CHILD'S HEALTH 2 - Derm, Infect. Disease, Neuro, Psych, Endo, Onc Flashcards

Question

What are some conditions that have similar presenations to Kawasaki disease?

Answer 1

Scarlett fever Malignancy Measles Toxic shock SJS

Answer 2

High CRP/WCC/ESR. - ***particulary ESR*** Full blood count can show anaemia, leukocytosis and thrombocytosis Liver function tests can show **hypoalbuminemia and elevated liver enzymes** Urinalysis can show raised white blood cells without infection **Echocardiogram can demonstrate coronary artery pathology** | High platelet count.

Answer 3

Acute phase: The child is most unwell with the **fever, rash and lymphadenopathy**. This lasts 1 – 2 weeks. Subacute phase: The acute symptoms settle, the **desquamation and arthralgia** occur and there is a risk of coronary artery aneurysms forming. This lasts 2 – 4 weeks. Convalescent stage: The remaining symptoms settle, the blood tests slowly return to normal and the coronary aneurysms may regress. This last 2 – 4 weeks. Do echo when they first come in, and 6 weeks onwards

Answer 4

**High dose aspirin** to reduce the ***risk of thrombosis*** **IV immunoglobulins** ***to reduce the risk of coronary artery aneurysms*** follow up with **echocardiograms** to monitor for evidence of coronary artery aneurysms.

Answer 5

To prevent thrombosis. These children have thrombocytosis and so are at risk of thrombosis. *TOM TIP: Kawasaki disease is one of the few scenarios where aspirin is used in children. Aspirin is usually avoided due to the risk of Reye’s syndrome. This is a unique fact that examiners like to test.*

Answer 6

Coronary artery aneurysm.

Answer 7

- Thorough history - ensure good documentation, are there any discrepancies? - Examination - use body charts. - FBC, clotting, swabs, bone profile, skeletal survey. - Social services assessment +/- police input.

Answer 8

Measles is an acute illness caused by morbillivirus, Transmitted by respiratory droplets. Incubation 10–18d. Highly contagious: Complications otitis media: the most common complication pneumonia: the most common cause of death encephalitis: typically occurs 1-2 weeks following the onset of the illness)

Answer 9

higher grade fever, conjunctivitis, coryza, diarrhea, Koplik spots (white spots on the red buccal mucosa, like small grains of sand) mEAsles - starts behind the EAr Then generalized, maculopapular rash, classically face/neck->trunk->limbs passmed - rubELLA - Ella has a beautiful face - spreads from the face

Answer 10

Supportive. Isolate children in hospital. In immunocompromised patients, antiviral drug ribavirin can be used. Vitamin A, which may modulate the immune response should be given in low-income countries. Prevention by **immunization is the most successful strategy** for reducing the morbidity and mortality of measles. Local Health Protection Team need to be notified, not PHE!

Answer 11

Its the primary infection of the varicella zoster virus - in children – It is spread via the airways and the rash develops 4 days post infection

Answer 12

Symptoms: – Prodrome of high temperature Widespread, erythematous, raised, vesicular , blistering lesions. Eventually the lesions scab over, at which point they have stopped being contagious. The rash usually starts on the trunk or face and spreads outwards affecting the whole body. – Can lead to secondary bacterial infection of the vesicles

Answer 13

Acute illness with symptoms: Treat with IV acyclovir. Post-exposure or very early intervention: Consider VZIG, especially if given shortly after exposure but before symptoms develop. keep cool, trim nails, calamine lotion immunocompromised patients and newborns should receive varicella zoster immunoglobulin (VZIG). Do not use NSAIDs ↑ risk of secondary bacterial infection. Chickenpox school exclusion - ***until all the lesions are dry and have crusted over*** (usually about 5 days after the onset of the rash) Chickenpox is a risk factor for **invasive group A streptococcal soft tissue infections** such as necrotizing fasciitis

Answer 14

Shingles is uncommon in children. It is caused by reactivation of latent VZV, causing a vesicular eruption in the dermatomal distribution of sensory nerves. It occurs most commonly in the thoracic region, although any dermatome can be affected (Fig. 15.15).

Answer 15

Oral aciclovir 1st line You can't give shingles to other people. But, other people can catch chickenpox from people with shingles if they haven't had it before.

Answer 16

Non immune pregnant mothers need to receive varicella zoster IG injection to prevent congenital varicella syndrome. If mum develops chickenpox she will also be treated with aciclovir.

Answer 17

It is a mild disease in childhood caused by the rubella virus. More common in winter and spring, it is spread by the respiratory route, frequently from a known contact. The prodrome is usually mild with a low-grade fever or none at all.

Answer 18

The maculopapular rash is often the first sign of infection, appearing initially on the face and then spreading centrifugally to cover the whole body. It fades in 3 days to 5 days. Lymphadenopathy, particularly the suboccipital and postauricular nodes, is prominent. **May have low grade fever** There is no effective antiviral treatment, so **immunisation is key**

Answer 19

Can lead to Congenital rubella syndrome = caused by maternal infection with the rubella virus during the first 20 weeks of pregnancy. The risk is highest before ten weeks gestation. *Women planning to get pregnant should ensure they have had the MMR vaccine. Pregnant women should not receive the MMR vaccination, as this is a live vaccine. Non-immune women should be offered the vaccine after giving birth.*

Answer 20

Sensorineural deafness (58% of patients) Eye abnormalities—especially retinopathy, cataract, glaucoma, and microphthalmia (43% of patients) Congenital heart disease—especially pulmonary artery stenosis and patent ductus arteriosus (50% of patients) If infection occurs 0–11 weeks after conception, the infant has a 90% risk of being affected ***Heart, Ears and Eyes!***

Answer 21

Usually mild. Smptoms often develop gradually, beginning with a sore throat and fever. In severe cases, a grey or white patch develops in the throat, which can block the airway, and **create a barking cough similar to what is observed in** ***croup.*** May involve lymph node swelling, and can involve skin, eyes and genitals

Answer 22

S. aureus bacteria that produces exfoliative toxins. Toxins are proteases that breakdown the proteins that hold skin cells together. IV antibiotics (Flucoxacillin) Topical therapy fusidic acid Fluid and electrolyte management (consider burns unit) Analgesia with paracetmol

Answer 23

A child, < 5 years old presents with a sore throat, fever, widespread peeling, erythematous rash. Nikolsky’s sign – separation of the skin on gentle pressure.

Answer 24

Scarlett fever - 24 hours after starting antibiotics 4 days from onset of rash - Measles Until symptoms have settled for 48 hours - D and V

Answer 25

48 hours after commecing atnbx - whooping couhg 5 days from onset of rash - rubella

Answer 26

Roseola infantum (occasionally called sixth disease) is a common disease of infancy caused by the human herpes virus 6 (HHV6). A coryzal illness with associated high fever that resolves and is followed 1-2 weeks later by an erythematous rash across the trunk and limbs is a classical history of roseola infantum. The fever is typically rapid onset and can often predispose to febrile convulsions. normally mild

Answer 27

Upper respiratory tract infection caused by Bordetella pertussis **(Gram negative aerobic coccobacillus)** The bacteria release toxins in the trachea that stop cilia beating and clearing airways, so the only way to clear debris in lungs to cough loads, 'whooping' to inhale inbetween coughing fit

Answer 28

Catarrhal stage (1-2 weeks): - Dry, unproductive cough - Low-grade fever - Conjunctivitis - Coryzal symptoms Paroxysmal stage (1-6 weeks): - Coughing fits: typically consist of a short expiratory burst followed by an inspiratory gasp, causing the ‘whoop’ sound - Whoop sound caused sharp inhalation of breath during coughing bout - Post-tussive vomiting Convalescent stage (lasts up to 6 months): Gradual improvement in symptoms

Answer 29

Nasopharyngeal swab/aspirate: Culture/PCR Anti-pertussis toxin immunoglobulin G (IgG) serology

Answer 30

Notify PHE Hospital admission if severe Antibiotics: if Cough Sx is within 21 days Macrolids - Clarithromycin, Azithromycin School work absence: highly contagious Antimicrobial therapy should not routinely be offered to patients after 21 days from onset of cough as by this time the duration of symptoms is unlikely to be reduced. *can return to school 48 hours after antibiotics given*

Answer 31

Polio is the common name of poliomyelitis, an acute clinical disease caused by a poliovirus. Remains endemic in Afghanistan and Pakistan (2016).12 Presentation: Incubation 7–10d. Flu-like prodrome in ~25%. Pre-paralytic stage: fever, increased HR, headache, vomiting, neck stiffness, tremor, limb pain. ~1 in 200 progress to paralytic stage: LMN/bulbar signs ± respiratory failure

Answer 32

Acid Fast Rod Bacilli Non motile + non spore forming Acid fast staining (Zeihl-Neelsen stain.) - **Stains red** Doesn't take up gram stain due to Mycolic acid capsule Resistant to phagocytic killing. Slow growing (15-20 hrs)

Answer 33

Macrophages struggle to clear TB due to its waxy mycolic acid capsule. Instead of being broken down and cleared, A **focal caseating granuloma** typically forms in the lower lobe known as a **Ghon focus.** The Ghon focus can then spread to the **Hilar Lymph nodes** in the lungs, which together form a **ghon complex** These ghon complexes can under go **fibrosis and calcification**, leading to the appearance of **ranke complexes** on xray

Answer 34

- occurs after primary infection, immune system encapsulates sites of infection and stop the progression of the disease. - Patients remain asymptomatic and the bacteria remains dormant, resulting in negative sputum cultures but a positive Mantoux test. - These patients are not infectious. - However, if patients are immunocompromised, the disease can progress or reactivate at a later stage to become active TB.

Answer 35

Immunocompromised patients may develop secondary TB when latent TB reactivates - Patients are infectious. - Reactivation typically occurs in the lung apex where pO2 is highest, as mycobacteria are aerobic. bacteria can spread locally, to form caseating granulomata, or systemically (miliary TB).

Answer 36

Miliary TB - Where immune system cannot control the infection and it becomes disseminated Extrapulmonary TB - where TB infects other areas

Answer 37

he clinical features of active TB are often nonspecific, such as prolonged fever, malaise, anorexia, weight loss, or focal signs of infection (e.g. lymph node swelling in TB lymphadenitis).

Answer 38

Latent Disease - Mantoux Test/tuberculin skin test - can be positive if have had BCG Interferon Gamma release assay

Answer 39

**Patchy Consolidation** Ghon Complex Granulomatous Lesions **Hilar Lymphadenopathy** - (enlargement) Pleural Effusion

Answer 40

Doesnt necessarily need Tx If risk of reactivation then: 6 months of isoniazid with pyridoxine or 3 months of isoniazid, pyridoxine and rifampicin

Answer 41

RIPE: Combination Abx for 6-12 months R – Rifampicin for 6 months I – Isoniazid for 6 months P – Pyrazinamide for first 2 months E – Ethambutol for first 2 months Pyra zina mide Etham but ol

Answer 42

Haematuria

Answer 43

Peripheral Neuropahty, **Can also be a trigger for SLE**

Answer 44

Hepatitis, Also gout, and joint pain

Answer 45

– Eye problems e.g. uveitis

Answer 46

Note RI = 2 months, PE = 6 months

Answer 47

The virus enters and destroys the CD4 T helper cells. Uses reverse transcriptase enzyme to transcribe a piece of complimentary proviral DNA, to make a double strand with the original RNA strand. This double stranded DNA then pops itself into the DNA of the cell (via integrase enzyme.) , ready to be transcribed into another virus cell, when the old immune cell becomes activated and starts trying to transcribe proteins for the immune response. (sneaky)

Answer 48

Sexual abuse/unprotected sex Mother to child at **any stage of pregnancy, birth or breastfeeding.** This is referred to as vertical transmission. Mucous membrane, blood or open wound exposure to infected blood or bodily fluids. This could be through sharing needles, needle-stick injuries or blood splashed in an eye.

Answer 49

Mode of delivery will be determined by the mother viral load: Normal vaginal delivery is recommended for women with a **viral load < 50 copies / ml** Caesarean sections are considered in patients with > 50 copies copies / ml and in all women with > 400 copies / ml IV zidovudine should be given during the caesarean if the viral load is unknown or there are > 10000 copies / ml

Answer 50

Prophylaxis treatment may be given to the baby depending on the mothers viral load: Low risk babies, where mums viral load is < 50 copies per ml, should be given zidovudine for 4 weeks High risk babies, where mums viral load is > 50 copies / ml, should be given zidovudine, lamivudine and nevirapine for 4 weeks No - HIV can be transmitted during breastfeeding, even if the mother’s viral load is undetectable. Breastfeeding is never recommended for mothers with HIV

Answer 51

Twice: **HIV viral load test at 3 months.** If this is negative, the child has not contracted HIV during birth and will not develop HIV unless they have further exposure. **HIV antibody test at 24 months**. This is to assess whether they have contracted HIV since their 3 month viral load, for example through breast feeding. If the 3 month test is negative and they are not breastfed, this should be negative. Note that the antibody test can be **positive in infants who do not have HIV for up to 18 months of age.** This is due to maternal antibodies that have crossed the placenta during pregnancy.

Answer 52

Antiretroviral therapy (ART) to suppress the HIV infection Normal childhood vaccines, avoiding or delaying live vaccines if severely immunosuppressed. Prophylactic co-trimoxazole (Septrin) for children with low CD4 counts, to protect against pneumocystis jirovecii pneumonia (PCP) Treatment of opportunistic infections The aim of antiretroviral therapy (ART) is to achieve a normal CD4 count and undetectable viral load

Answer 53

Escherichia coli Group B Streptococcus (Streptococcus agalactiae) Listeria monocytogenes *only group where both Streptococcus Pneumoniae or Neisseria Meningitidis aren't in the most common top 3*

Answer 54

Neisseria meningitidis Haemophilus influenzae *(but less common now due to vaccination)* Streptococcus pneumoniae *if in doubt, just say Streptococcus Pneumoniae or Neisseria Meningitidis)*

Answer 55

Neisseria meningitidis Streptococcus pneumoniae *if in doubt, just say Streptococcus Pneumoniae or Neisseria Meningitidis)*

Answer 56

- **Kernig’s sign:** extension of the knee when hip is flexed at 90 degrees causes neck pain - **Brudzinski sign:** severe neck stiffness causes the hips and knees to flex when the neck is flexed - **Petechial or purpuric non-blanching rash:** associated with meningococcal disease **(N. meningitidis)** - **Pyrexia** - **Reduced GCS**

Answer 57

FEVER HEADACHE NECK STIFFNESS – ‘MENINGISM’ Might not be able to touch chin to neck Purpuric rash – only in BACTERIAL meningitis Non-blanching plupurent rash = meningococcal septicaemia **(meningitis caused by N. Menigitidis)** Photophobia and/or phonophobia Papilloedema – swelling of optic disc on fundoscopy Usually bilateral

Answer 58

**INVESTIGATIONS AND TREATMENT SHOULD BE DONE IN PARALLEL** Treat first, investigate later – give IM benzylpenicillin Assess GCS - if <8 then can't maintain their own airway, 🡪 intubate Blood cultures – BEFORE ANTIBIOTICS!! Lumbar puncture - to obtain CSF - **Diagnostic** Head CT – to exclude lesions e.g. tumour Blood – blood cultures and PCR for S. pneumoniae and N. meningitidis. Nose and throat swabs – are plated out onto blood and chocolate agar. Stool – stool PCR can be used to detect enterovirus. Serology – blood (to detect a convalescent rise in antibody).

Answer 59

NICE recommends a lumbar puncture as part of the investigations for all children: Under 1 month presenting with fever 1 to 3 months with fever and are unwell Under 1 year with unexplained fever and other features of serious illness **As v young kids have a BBB that is far easier to penetrate**

Answer 60

CSF: Appearance - Cloudy/Turbid WCC - High neutrophils Protein - High Glucose - Low Culture - bacterial organism bacteria swimming in the CSF (cloudy) will release proteins (high) and use up the glucose (low). Immune response to bacteria is neutrophils

Answer 61

CSF: Appearance - Clear WCC - High Lymphocytes Protein - Normal/Mildly raised Glucose - Normal (2.8–4.2mmol/L., two thirds of blood glucose) Culture - Negative Viruses cant be seen (clear) don’t use glucose (normal) but may release a small amount of protein (normal/mild inc). Immune response to viruses are lymphocytes

Answer 62

Between L3/L4 **Raised ICP** GCS <9 Focal Neurological signs **coagulopathy** Cardiovascular compromise (bradycardia and HTN), **Infection at the site of LP**

Answer 63

Usually milder and so Supportive Tx If HSV/VZV infection then Acyclovir

Answer 64

A to E approach, and give O2 if needed Antibiotics Bolus fluids, as they are acutely unwell

Answer 65

IV dexamethasone, ideally administered before or with the first dose of antibiotics once in hospital. Reduces mortality and likelihood of neurological sequelae. ceftriaxone : 2 g intravenously every 12 hours OR cefotaxime : 2 g intravenously every 6 hours

Answer 66

cefotaxime -- AND -- ampicillin or amoxicillin Cefotaxime is used to avoid complications like bilirubin displacement and biliary sludging, which ceftriaxone can do NICE advise against giving corticosteroids in children younger than 3 months

Answer 67

Urgent/immediate IM Benzylpenicillin Prior to immediate transfer to a hospital

Answer 68

Give IM benzylpenicillin and do an immediate hospital referral Can offer close **contacts Ciprofloxacin**

Answer 69

Neonates and babies can present with very non-specific signs and symptoms, such as hypotonia, poor feeding, lethargy, hypothermia and a bulging fontanelle. Any Fever, unless obvious source - need to rule out meningitis

Answer 70

In children the most common cause is herpes simple type 1 (HSV-1) from cold sores. Neonates it is herpes simplex type 2 (HSV-2) from genital herpes, contracted during birth.

Answer 71

Altered consciousness Altered cognition Unusual behaviour Acute onset of focal neurological symptoms Acute onset of focal seizures Fever

Answer 72

Children with features of encephalitis need some key investigations to establish the diagnosis: Lumbar puncture, sending cerebrospinal fluid for viral PCR testing CT scan if a lumbar puncture is contraindicated MRI scan after the lumbar puncture to visualise the brain in detail CT - encephalitis will show** temporal lobe changes on CT** EEG recording can be helpful in mild or ambiguous symptoms but is not always routinely required Swabs of other areas can help establish the causative organism, such as throat and vesicle swabs HIV testing is recommended in all patients with encephalitis Contraindications to a lumbar puncture include a GCS below 9, haemodynamically unstable, active seizures or post-ictal.

Answer 73

Intravenous antiviral medications are used to treat the suspected or confirmed underlying cause: Aciclovir treats herpes simplex virus (HSV) and varicella zoster virus (VZV) Ganciclovir treat cytomegalovirus (CMV) Repeat lumbar puncture is usually performed to ensure successful treatment prior to stopping antivirals **Aciclovir is usually started empirically in suspected encephalitis** until results are available. Other viral causes have no effective treatment and management is supportive Needs to be IV not oral aciclovir.

Answer 74

one of several possible manifestations of infection by parvovirus B19. It typically presents as a rash and is more common in children **Also known as Erythma Infectiosum, or fifth disease**

Answer 75

HPV-B19 infects the erythroblastoid red cell precursors in the bone marrow. asymptomatic infection – common; about 5% to 10% of preschool children and 65% of adults have antibodies * erythema infectiosum – the most common illness, with a viraemic phase of fever, malaise, headache, and myalgia followed by a characteristic rash on the face (slapped-cheek) a week later, progressing to a maculopapular, ‘lace’-like rash on the trunk and limbs; arthralgia or arthritis can be common in adults

Answer 76

In Pregnant women, as can be transfered to foetus Miscarriage or fetal death Severe fetal anaemia Hydrops fetalis (fetal heart failure) Maternal pre-eclampsia-like syndrome In those with sickle cell anaemia or Thalassaemia - **Can send them into a aplastic crisis** Treatment is supportive

Answer 77

Impetigo is a superficial bacterial skin infection Most common cause - staphylococcus aureus, can also be caused by streptococcus pyogenes

Answer 78

staphylococcus aureus bacteria that produces toxins (exfoliative toxins) that breakdown the proteins that hold skin cells together and cause 1-2 cm fluid filled vesicles to form on the skin. “golden crust” typically occurring around the nose or mouth

Answer 79

non-bullous impetigo, in which blisters are not present. the less common form, bullous impetigo, in which fluid-filled blisters (bullae) are present. Bullous is more common in <2 year olds, and almost always caused by staph aureus.

Answer 80

Non bullous hydrogen peroxide 1% cream for people who are not systemically unwell or at a high risk of complications. or, a topical antibiotic: Fusidic acid 2% (apply three times a day for 5 days) For more widespread or severe non bullous impetigo, as well as bullous impetigo, use Oral flucloxacillin

Answer 81

**Systemic Symptoms**,They may be feverish and generally unwell. In severe infections when the lesions are widespread, it is called staphylococcus scalded skin syndrome.

Answer 82

Impetigo localized (to face or extremities) Rarely have systemic symptoms Mild pruritus seen crusted lesions/blisters VZV Diffuse spread or dermatomal w shingles Intense pruritis have systemic symptoms vesicles are on an erythematous base

Answer 83

Nappy rash is skin inflammation, mainly due to a reaction of the skin to urine and poo. Switching to highly absorbent nappies (disposable gel matrix nappies) Change the nappy and clean the skin as soon as possible after wetting or soiling Use water or gentle alcohol free products for cleaning the nappy area Use a thin layer of barrier cream Ensure the nappy area is dry before replacing the nappy Maximise time not wearing a nappy

Answer 84

Rash extending into the skin folds Larger red macules Well demarcated scaly border Circular pattern to the rash spreading outwards, similar to ringworm **Satellite lesions,** which are small similar patches of rash or pustules near the main rash Check for oral thrush with a white coating on the tongue, as this is likely to indicate a fungal infection in the nappy area.

Answer 85

- Treatment topical antifungal (imidazole). - Cease the use of a barrier cream until the candida has settled Canesten® cream has been used to treat fungal nappy rash for 25 years. Active ingredient **clotrimazole** cloh trimm azz oll

Answer 86

A severe systemic reaction to staphylococcal exotoxin. Toxin-producing S. aureus and group A streptococci Leaving tampons in too long, female barrier contraceptives, any break in the skin, nasal packing for nose bleeds characterized by: * fever over 39° C * hypotension * diffuse erythematous, macular rash.

Answer 87

This is an emergency, ABCDE approach. Oxygen IV Broad spec Abx + IV IG IV Fluids Surgical debridement *Antibiotics often include a third-generation cephalosporin (such as ceftriaxone) together with clindamycin, which acts on the bacterial ribosome to switch off toxin production. Intravenous immunoglobulin may be given to neutralize the circulating toxin.*

Answer 88

Scarlet fever infectious disease caused by Streptococcus pyogenes, a Group A streptococcus The infection is a type of Group A streptococcal infection (Group A strep). It most commonly affects children between five and 15 years of age

Answer 89

Erythematous 'pinhead' Sandpaper rash, spares the face, **desquamates around the fingers and toes** + ***‘Strawberry tongue’*** Fever, Malaise, headache, nausea. Scarlet fever usually follows from a group A streptococcal infection **it is a notifiable disease!**

Answer 90

Swab throat Prescribe a 10-day course of phenoxymethylpenicillin (penicillin V) first-line. Azithromycin if allergic Can go back to school one day after starting antibiotics **it is a notifiable disease!**

Answer 91

Complications: can cause otitis media, rheumatic fever or glomerulonephritis.

Answer 92

Coxsackievirus A16 is the most common cause, and enterovirus 71 is the second-most common cause

Answer 93

Tiredness, sore throat, cough, temperature Then small mouth ulcers appear, Then discrete red spots appear on hands, feet and around the mouth, Then spots may blister mild systemic upset: sore throat, fever oral ulcers followed later by **vesicles** on the palms and soles of the feet

Answer 94

Diagnosis is made based on the clinical appearance of the rash. There is no treatment for hand, foot and mouth disease. Management is supportive, with adequate fluid intake and simple analgesia such as paracetamol if required. The rash and illness resolve spontaneously without treatment after a week to 10 days children do not need to be excluded from school the HPA recommends that children who are unwell should be kept off school until they feel better

Answer 95

Salmon patch - Flat red or pink patches on a baby's eyelids, neck or forehead at birth. They're the most common type of vascular birthmark and occur in around half of all babies. Infantile Haemangioma - strawberry marks, are raised marks on the skin that are usually red, occur in 5% of birth, more common in girls. Rapidly increase in size for the first six months before shrinking

Answer 96

Port wine stain - discoloration of the human skin caused by a vascular anomaly (a capillary malformation in the skin). *Mikhail Gorbachev famously had one on his forehead* Café au lait spots, = flat, hyperpigmented birthmarks. They are caused by a collection of pigment-producing melanocytes in the epidermis of the skin. **Multiple of these birth can be a sign of neurofibromatosis type 1**

Answer 97

Mongolian spots - More common in darker-skinned people and usually occur over the lower back or buttocks. ***now called congenital dermal melanocytosis*** congenital melanocytic naevi - normal moles

Answer 98

Primitive reflexes are reflex actions from CNS, seen in normal infants, but not neurologically intact adults, in response to particular stimuli. These reflexes are suppressed by the development of the frontal lobes as a child transitions normally into child development. eg Moro, Grasp, and Galant

Answer 99

Spasticity: UMN lesion in descending motor pathways (otherwise known as pyramidal tracts). Is force (or velocity) dependent- requires slow and fast passive movement to assess Most common form of hypertonia in children Rigidity: increased resistance to passive movement throughout the range of motion , often due to basal ganglia/deep nuclei insult e.g. substantia nigra in Parkinson’s disease

Answer 100

. When an object is placed in the infant's hand and strokes their palm, the fingers will close and they will grasp it with a palmar grasp

Answer 101

Said to be the only unlearned fear in newborns, a reflex done by a startling baby It is likely to occur if the infant's head suddenly shifts position, the temperature changes abruptly, or they are startled by a sudden noise. The **legs and head extend** while the **arms jerk up and out** with the palms up and thumbs flexed, then infant pulls his arms and legs in and starts crying

Answer 102

When the skin along the side of an infant's back is stroked, the infant will swing towards the side that was stroked.

Answer 103

Primitive reflexes should gradually disappear as postural reflexes develop. This essential for good motor development. If they persist, There may be a sign of CNS dysfunction Should disappear around 6 months of age

Answer 104

1. Gross motor. 2. Fine motor and vision. 3. Speech, language and hearing. 4. Social interaction and self care skills.

Answer 105

4 months **Grasp an object Uses both hands**reaches for things, and brings things to mouth** 12 months scribbles with a crayon, 3 years Tower of multiple cubes

Answer 106

- 6m: chest up with arm support, can sit unsupported. - 8m: crawling. - 9m: pulls to stand. The corrected age of a premature baby is the age minus the number of weeks he/she was born early from 40 weeks The corrected age is taken into consideration when looking at milestones until the age of 2

Answer 107

- 12m: walking. - 2 years: walking up stairs. - 3 years: jumping. - 4 years: hopping. - 5 years: rides a bike.

Answer 108

9 months Says 'mama' and 'dada' Understands 'no' 12 months Knows and responds to own name, can say one word 12-15 months Knows about 2-6 words (Refer at 18 months) Understands simple commands - 'give it to mummy' - 3 years: speech is mainly understandable.

Answer 109

6 weeks Smiles spontaneously 6 months Finger feeds 9 months Waves bye – bye 12 months Uses spoon/fork The corrected age of a premature baby is the age minus the number of weeks he/she was born early from 40 weeks The corrected age is taken into consideration when looking at milestones until the age of 2.

Answer 110

2 years - can take some clothes off, play w toys, but not sharing, "parallel play" w others 3-4 years can learn to play, take turns, dress themselves mostly

Answer 111

1. Not sitting by 12 months. Not walking by 18 months | 2. Not walking by 18 months.

Answer 112

Hand preference before 18 months.

Answer 113

1. Not smiling by 3 months - blindness? ASD? No clear words by 18 months | 2. No clear words by 18 months - ASD? Language problems?

Answer 114

1. No response to carers interactions by 8 weeks. 2. No interest in playing by 3 years.

Answer 115

Down’s syndrome Fragile X syndrome Fetal alcohol syndrome Rett syndrome Metabolic disorders

Answer 116

A delay that is specific to the gross motor domain may indicate underlying: Cerebral palsy Ataxia Myopathy Spina bifida Visual impairment

Answer 117

A delay that is specific to the fine motor domain may indicate underlying: Dyspraxia Cerebral palsy Muscular dystrophy Visual impairment Congenital ataxia (rare)

Answer 118

Specific social circumstances, for example exposure to multiple languages or siblings that do all the talking Hearing impairment Learning disability Neglect Autism Cerebral palsy

Answer 119

Emotional and social neglect Parenting issues Autism

Answer 120

Otoacoustic emission test *A computer-generated click is played through a small earpiece. The presence of a soft echo indicates a healthy cochlea*

Answer 121

If they fail this, then auditory brainstem response test should be carried out *An ABR test is a non-invasive test that uses electrodes (recording pads that measure brain activity) to measure how well sounds reach your baby's brainstem.* should be done as a newborn/infant Pure tone audiometry is typically performed on school-age children on their entry to school around 3-4 years of age. This involves wearing headphones and asking the child to raise a hand or press a button when they hear a beep

Answer 122

Detailed jstory and thought examin In boys not walking by 18m mnoths, check CK for DMD Focal neurological signs - MRI of head? Xray of hip - for Developmental dysplasia of hip Dysmorphic features, family history - do genetic investigations Orgnaic and amino acids investivgations, thyroid function tests - but most the time these are all normal

Answer 123

Febrile convulsions are a type of **seizure that occurs in children with a high fever** .They are not caused by **epilepsy or other underlying neurological pathology, such as meningitis or tumours** By definition, febrile convulsions occur only in children between the ages of 6 months and 5 years.

Answer 124

as the insult to the brain is permanent, but brain is still developing, and different things are expected of the kid

Answer 125

The seizure usually occurs early in a viral infection when the temperature is rising rapidly. Simple febrile convulsions are **generalised, tonic clonic** seizures. The vast majority of febrile convulsions are short and do not cause any long-term damage. Parents should be **advised to call an ambulance for any seizures lasting more than 5 minutes**

Answer 126

In order the make a diagnosis of a febrile convulsion, other neurological pathology must be excluded. The differential diagnoses of a febrile convulsion are: Epilepsy Meningitis, encephalitis or another neurological infection such as cerebral malaria Intracranial space occupying lesions, for example brain tumours or intracranial haemorrhage Syncopal episode Electrolyte abnormalities Trauma (always think about nonaccidental injury)

Answer 127

Identify and manage the underlying source of infection and control the fever with simple analgesia such as paracetamol and ibuprofen. Simple febrile convulsions do not require further investigations and parents can be reassured and educated about the condition. Complex febrile convulsions may need further investigation. *but a bacterial infection including meningitis should always be considered. The classical features of meningitis such as neck stiffness and photophobia may not be as apparent in children less than 18 months of age, so an infection screen (including blood cultures, urine culture, and lumbar puncture for cerebrospinal fluid) may be necessary.*

Answer 128

Febrile convulsions can be described as complex when they consist of partial or focal seizures, last more than 15 minutes or occur multiple times during the same febrile illness.

Answer 129

A neurological disorder characterised by an increased tendency to have recurrent seizures that are **idiopathic and unprovoked.** (>2 episodes more than 24hrs apart) emphasis on **unprovoked**

Answer 130

a sudden alteration of neurological function - - its a subjective experience, a disturbance of the conscious level, emotion, movement or sensation

Answer 131

In a seizure, clusters of neurones are temporarily impaired and start sending out **lots of excitatory signals - sometimes said to be paroxysmal.** This is due to an imbalance between inhibition and excitation of neurons, as **Balance of GABA and Glutamate shifts towards glutamate** ===> more excitatory stimulation Think- Glutamat**E** - E for **E**xcitatory

Answer 132

Generalised seizures (affect both hemispheres) Focal (affect one hemisphere/lobe)

Answer 133

Tonic Clonic Absence Tonic Myoclonic Atonic

Answer 134

Tonic seizure: the muscles become **stiff and flexed,** which can cause the patient to fall, usually backwards Clonic seizures: **violent muscle contractions** (convulsions). Tonic-clonic seizures: there is **loss of consciousness and tonic (muscle tensing) and clonic (muscle jerking) episodes.** Typically the tonic phase comes before the clonic phase. There may be associated tongue biting, incontinence, groaning and irregular breathing.

Answer 135

Myoclonic seizures: short muscle twitches. The patient usually remains awake during the episode. levetiracetam is first-line for females Absence seizures:** impaired awareness or responsiveness, Patient becomes blank and stares into space before returning to normal. Motor abnormalities are either absent or very minor e.g. eyelid flutters or repetitive lip smacking Atonic seizures:** aka drop attacks. The muscles suddenly relax and become floppy, which can cause the patient to fall, usually forward. These don’t usually last more than 3 minutes **= *common in children*

Answer 136

**Simple focal** - The Focal region of cortex **+ NO basal ganglia/thalamus involvement** **Complex focal** The focal region of cortex **+ Basal ganglia and thalamus are involved.**

Answer 137

EEG - 3hertz spike on EEG ethosuximide Prolactin can be used to differentiate between a true seizure and a pseudoseizure Factors favouring true epileptic seizures: tongue biting, **raised serum prolactin**

Answer 138

No Loss of consciousness The patient is awake and aware Will have uncontrollable muscle jerking and may be unable to speak

Answer 139

a focal seizure may **spread to affect a wider network of neurons involving both hemispheres.** Traditionally termed a secondary generalised seizure.

Answer 140

- **Prodromal phase:** - Confusion, irritability or mood disturbances - **Early-ictal phase:** - Aura: warning felt before a seizure. These can include sensory, cognitive, emotional or behaviour changes. - **Ictal phase:** - Will vary depending on seizure type - **Post-ictal phase:** - Confused, drowsy and irritable during recovery *Jacksonian movement (clonic movements travelling proximally) indicates frontal lobe epilepsy*

Answer 141

Must have had 2 or more seizures MORE THAN 24 hrs apart to be considered

Answer 142

Electroencephalogram (EEG)– detects electrical signals in the brain - would be abnormal in epilepsy. Gold standard Need to rule out any other causes of the seizures!!: CT head, or MRI- may see a structural lesion U&Es, - particularly hyponatraemia/hypernatraemia, or uraemia can cause seizures FBC - elevated WBC can indicate a systemic or CNS infection, which can cause seizures Blood glucose - again, extreme hypoglycaemia or hyperglycaemia can cause generalised tonic-clonic seizures Toxicology screen - a variety of illicit substances may cause a provoked GTCS Prolactin can be used to differentiate between a true seizure and a pseudoseizure Factors favouring true epileptic seizures: tongue biting raised serum prolactin*

Answer 143

Primary - also known as genetic or idiopathic epilepsy occur in an otherwise normal person and are due to a genetic predisposition to seizures. Secondary - due to an underlying abnormality of the brain structure or chemistry formerly called symptomatic epilepsy

Answer 144

Cerebral Palsy Encephalitis Developmental delay Dysmorphic features Neurocutaneous syndromes - like **Neurofibromatosis type 1, Tuberous sclerosis, Sturge Webber syndrome**

Answer 145

Lack of eyewitness account - people misremember clonic jerks and incontinence can occur in fainting, not just epilepsy Looking at past history of seizures that aren't epilepsy eg inc febrile seizure Looking at a positive family history of seizure - and jumping to a conclusion of epilepsy Overinterpretation of EEG

Answer 146

These spasms often manifest as sudden, jerking movements of the arms, legs, or trunk. - arms going out and grimacing They can occur in clusters, with each spasm lasting only a few seconds, but they can happen many times a day. Infantile spasms can be challenging to diagnose because the spasms themselves may not seem significant at first glance and can be mistaken for normal infant movements. However, they tend to occur in specific patterns, such as upon waking or when the infant is falling asleep. Additionally, they may be associated with developmental delays or regression known as/seen in West Syndrome

Answer 147

Infantile spasms: These are brief, sudden, and symmetric muscle contractions, typically involving the neck, trunk, and limbs. Hypsarrhythmia: This refers to a specific pattern seen on electroencephalogram (EEG) recordings. Hypsarrhythmia is often present in infants with West syndrome, but it's not exclusive to this condition. Developmental regression or delay

Answer 148

Reflex anoxic seizures occur when the child is startled. The vagus nerve sends strong signals to the heart that causes it to stop beating. Breath holding spells are also known as breath holding attacks. They are involuntary episodes during which a child holds their breath, usually triggered by something upsetting or scaring them. Metabolic - Hypoglycaemia, hypo and hypernatraemia, hypocalaemia, water intoxifcation Dehydration Anaemia Infection Anaphylaxis Arrhythmias Valvular heart disease Hypertrophic obstructive cardiomyopathy A vasovagal response to a stimuli, such as sudden surprise, pain or the sight of blood

Answer 149

Status epilepticus (SE) is a single, continuous seizure lasting more than five minutes or two or more seizures within a five-minute period without regaining consciousness in between. It is a **medical emergency**. Status epilepticus: rule out hypoxia and hypoglycaemia before thinking of other causes

Answer 150

ABCDE approach - secure airway and give oxygen. **IV bolus—to stop seizures: eg lorazepam 4mg** (in hostpial) Give 2nd dose of lorazepam if no response after 10–20min **Or Buccal Midazolam, or rectal diazepam** *(try cannulating a fitting person)* Then Phenytoin if second dose doesn't work. Get ITU/Anaesthetist help!! Status epilepticus: rule out hypoxia and hypoglycaemia before thinking of other causes May need to keep airway open w NasalPharyngeal tube

Answer 151

VITAMIN DE: Vascular - haemorrhage/infarcts Infection - Encephalitis Trauma Alcohol -*(if patient has seizures due to alcohol/alcohol withdrawal, give pabrinex)* Metabolic - Hypocalcaemia, Hypo/hypernatraemia, hypoglycaemia Idiopathic - Epilepsy Neoplasms - causing a lesion in brain Dementia + Drugs (cocaine) Eclampsia + everything else Status epilepticus: rule out hypoxia and hypoglycaemia before thinking of other causes

Answer 152

Juvenile Myolconic Epilepsy The initial absence seizures (at age 6) and the later generalized tonic-clonic seizures (at age 12) Valproic Acid (Sodium Valproate): Most effective medication for controlling myoclonic, generalized tonic-clonic, and absence seizures. or **Levetiracetam:** Effective for myoclonic seizures and generalized tonic-clonic seizures.

Answer 153

Juvenile Myoclonic Epilepsy (JME) - Key Features and Management Common Features: Age of Onset: Typically between 12-18 years. Myoclonic Jerks: Sudden, brief jerks of arms or shoulders, often upon waking. **Generalized Tonic-Clonic Seizures**: Occur in the **morning or after sleep deprivation.** Absence Seizures: Can occur but less common; brief lapses in awareness. Postictal Confusion: Following generalized seizures, there may be confusion. BRE happens at night, in otherwise healthy children w no risk factors, between 4-12. Most children outgrow it

Answer 154

Management: First-Line Treatment: Valproate (sodium valproate). Alternative Options: Lamotrigine or Levetiracetam. Lifestyle Modifications: Avoid sleep deprivation, alcohol, and stress; ensure regular sleep patterns.

Answer 155

1st line: sodium valproate or lamotrigine. Levetiracetam - Keppra *Breast feeding is acceptable with nearly all anti-epileptic drugs, so wouldn't need to be stopped*

Answer 156

Carbamazepine for focal seizures *Breast feeding is acceptable with nearly all anti-epileptic drugs, so wouldn't need to be stopped*

Answer 157

Myoclonic seizures males: sodium valproate **females: levetiracetam** Tonic or atonic seizures males: sodium valproate females: lamotrigine

Answer 158

All females of childbearing age (15-45) Sodium Valporate is Teratogenic Can also damage liver, and cause hepatitis and pancreatitis, can also lead to hair thinning and weight gain Instead use Lamotrigine

Answer 159

Lamotrigine is associated with Stevens-Johnson syndrome, Toxic Epidermal Necrolysis or Hypersensitivity syndrome. **its a dermatological medical emergency, type IV hypersensitivity reaction** High levels of carbamazepine are associated with **Blurred vision, nystagmus, unsteadiness and incoordination**

Answer 160

Topiramate is another antiepileptic medication that can cause side effects like weight loss, cognitive impairment, and kidney stones Phenytoin is an antiepileptic drug that can cause side effects such as peripheral neuropathy, characterized by numbness and reduced sensation in a glove-and-stocking distribution. Additionally, phenytoin can cause gingival hyperplasia, which may lead to bleeding gums. Lymphadenopathy is another potential side effect of phenytoin.

Answer 161

5% school aged children. | M:F = 4:1

Answer 162

ADHD is most likely caused by a complex interplay of factors: neurobiologic (neuroanatomical and neurochemical) genetic influences environmental/psychosocial factors CNS insults (such as perinatal factors, CNS infections, FAS or premature.) Research repeatedly demonstrates that ADHD runs in families

Answer 163

1. Hyperactivity. 2. Inattention. 3. Impulsivity. (HII) These symptoms occur in every child from time to time but when they are persistent and impact on daily functions, more investigation is needed

Answer 164

1. Fidgety. 2. Talkative. 3. Noisy. 4. Can't remain seated. 5. Often 'On the go' or acts as if driven by a motor

Answer 165

1. Blurts out answers. 2. Interrupts. 3. Difficulty waiting turns. 4. When older, pregnancy and drug use.

Answer 166

1. Easily distracted. 2. Not listening. 3. Mind wandering. 4. Struggling at school. 5. Forgetful. 6. Organisational problems. Does not appear to be listening when spokento directly Makes careless mistakes Looses important items

Answer 167

**ADHD definition <17 Years** 6/9 inattentive symptoms and 6/9 hyperactivity/impulsivity. Present before 12 years Developmentally inappropriate Several symptoms in 2 or more settings Clear evidence symptoms interfere/reduce the quality of social/academic/occupational function .

Answer 168

1. Clinical interview - are there any RF's for ADHD? 2. ADHD nurse classroom observation. 3. Questionnaires (SNAP), Conor's questionaire 4. Quantitative behavioural (QB) analysis.

Answer 169

1. Education. 2. Parenting programmes and school support. 3. Medications e.g. methylphenidate. (Conerta, Equaysm), or Lisdexamfetamine (Elvanse)

Answer 170

Some ADHD medications can affect HR and BP and so it is important to do a cardiac assessment first.

Answer 171

PRIMARY SCHOOL CHILDREN (6-12 years) Distractability Motor restlessness specific learning disorders aggressive behaviour low self-esteem repetition of classes/ grades rejection by peers ADOLESCENTS (13-17 years) Difficulty in planning and organisation aggressive, antisocial anddelinquent behaviour alcohol and drug problems emotional problems accidents ADULTS (18 years and older) Residual symptoms Associated problems other mental disorders antisocial behaviour/delinquency lack of achievement in academicand professional career

Answer 172

They can be categorised as deficits in social interaction, communication and behaviour

Answer 173

NO DESIRE TO INTERACT WITH OTHERS BEING INTERESTED IN OTHERS TO HAVE NEEDS MET LACK OF MOTIVATION TO PLEASE OTHERS AFFECTIONATE ON OWN TERMS Touches inappropriately Poor Eye contact Plays alone Finds it stressful to be with other people

Answer 174

Repetitive use of words or phrases Delay, absence in language development Lack of appropriate non-verbal communication such as smiling, eye contact, responding to others, and sharing interest Lack of desire to communicate at all PEDANTIC LANGUAGE, VERY LITERAL, POOR OR NO UNDERSTANDING OF IDIOMS AND JOKES

Answer 175

USING TOYS AS OBJECTS INABILITY TO PLAY OR WRITE IMAGINATIVELY RESISTING CHANGE PLAYING SAME GAME OVER AND OVER OBSESSIONS/RITUALS There may be self-stimulating movements that are used to comfort themselves, such as hand-flapping or rocking. Extremely restricted food preferences

Answer 176

- Education and games to encourage social communication. - Visual aids and timetables. - Parenting workshops and school liaison. Manage Comorbidity There are no medications available for ASD Diagnosis should be made by a specialist in autism. This may be a paediatric psychiatrist or paediatrician with an interest in development and behaviour. A diagnosis can be made before the age of 3 years. It involves a detailed history and assessment of the child’s behaviour and communication..

Answer 177

Child psychology and child and adolescent psychiatry (CAMHS) Speech and language specialists Dietician Paediatrician Social workers Specially trained educators and special school environments Charities such as the national autistic society

Answer 178

A. **Restriction of energy intake relative to requirements**, leading to a **significant low body weight** in the context of the age, sex, developmental trajectory, and physical health (less than minimally normal/expected) B. **Intense fear of gaining weight** or becoming fat or persistent behaviour that interferes with weight gain. C. **Disturbed by one’s body weight or shape,** self-worth influenced by body weight or shape, or persistent lack of recognition of seriousness of low bodyweight.

Answer 179

Social pressure Perfectionist character traits Reversing or halting effects of puberty Some genetic links Depression may be a trigger for binges. Low self-esteem Occupation and interest (e.g. ballet dancers) Anxiety disorders Past or present events: life difficulties sexual abuse physical illness upsetting events - a death or the break-up of a relationship important events - marriage or leaving home.

Answer 180

Significant weight Loss - BMI less than 18 **a BMI of less than 70% of the median for your age** Resting bradycardia < 50 bpm Postural tachycardia > 35 bp Postural drop in systolic BP > 20 Hypothermia < 35.5 degrees Severe Abdominal pain **Escalating parental Concern** - generally very good guide – usually had months of struggling before presenting to hospital and they have witnessed a significant deterioration in functioning prompting presentation to medical services The Rapidity of the weight loss is as important as its degree in determining risk

Answer 181

do you make yourself Sick because you're uncomfortably full? do you worry that you’ve lost Control over how much you eat? have you recently lost more than 6 kilograms (about One stone) in three months? do you believe you’re Fat when others say you’re thin? would you say that Food dominates your life?

Answer 182

Loss of cardiac muscle and impaired cardiac reserve Starvation causes loss of cardiac muscle as well as skeletal muscle A weakened atrophied heart also poses a risk during refeeding due to the risk of precipitation of heart failure and even death Check U and Es TFTs Check potassium

Answer 183

Dry skin Lanugo hair - ”peach fuzz” hair on face and trunk Orange skin and palms - carotinaemia Cold hands and feet Bradycardia Drop in BP on standing - or **increased fainting** Oedema Week proximal muscles - squat test *Physical differentials - T1DM, Hyperthyroidism, Malnutrition/abuse, DKA* Anorexia features most things low G's and C's raised: growth hormone, glucose, salivary glands, cortisol, cholesterol, carotinaemia

Answer 184

Osteroporposis and increased risk of fractures - *as period stops so less ostrogen circualing that promotes bone health* Growth stunting and pubertal delay Neurocognitive Superior mesenteric artery syndrome

Answer 185

CBT Feeding regime 20calories per kilo - gradually increasing, done by specialists - NG tube Oral thiamine, and multivitamins Interpersonal therapy Food diary and regular eating programme – re-establish control of diet, address underlying abnormal cognitions SSRIs – best one to use is fluoxetine

Answer 186

the people have a normal body weight, that tends to flucuate Condition involves binge eating, followed by Purging - **inducing vomiting or taking laxatives to prevent the calories being absorbed.**

Answer 187

**medical complications that result from fluid and electrolyte shifts as a result of aggressive nutritional rehabilitation** Using up electroyles as tehy start to proccess food again - leads to **hypomagnesia, hypokalaemia and hypophosphataemia** These patients are also at risk of cardiac arrhythmias, heart failure and fluid overload.

Answer 188

Features of bulimia nervosa: Alkalosis, due to vomiting hydrochloric acid from the stomach Hypokalaemia Erosion of teeth Swollen salivary glands Mouth ulcers Gastro-oesophageal reflux and irritation Calluses on the knuckles where they have been scraped across the teeth. This is called Russell’s sign. *Look out for the teenage girl with a normal body weight that presents with swelling to the face or under the jaw (salivary glands), calluses on the knuckles and alkalosis on a blood gas. The presenting complaint may be abdominal pain or reflux.*

Answer 189

9 months - 3 years Separation from caregivers, sudden movements, loud noised 3-6 years, animals, dark, monsters 6-12 performance anxiety 12-18 - social anxiety 18 and above - death, illness

Answer 190

Separation aneixty Symptoms must persist for more than 4 weeks Having an ill parent can make it worse

Answer 191

Act with intent to hurt self Includes cutting, burning with ice, hitting self and overdose No intention to kill self Associated with suicidal ideas therefore check May want to release tension, make self feel, others to see distress, subcultural

Answer 192

Act with intent to kill self Includes overdose, attempted hanging, Intention includes desire to be dead Importance to assess severity and whether ongoing

Answer 193

Check for associated suicidal attempt/ideas Social factors eg family, school, abuse, drugs and alcohol Frequency, severity, methods, infection Reason – eg relief of distress

Answer 194

Circumstances eg alone, did they tell anyone Planned or impulsive Left letter Continuing ideas What would stop a further ephisode Future Weather they actually were intending to die

Answer 195

Manage immediate risk Tell parents – plan for young people to tell parents if have further thoughts Manage any underlying mental health condition eg Depression If too severe – hospital/intensive home treatment If parents unable to work to protect young person – consider social care

Answer 196

Alternative strategies egtalking friend, distraction watch TV, soothing eg music Manage/ Treat underlying cause eg Family therapy for family conflict, bullying

Answer 197

In about 5% of boys the testes have not made it out of the abdomen by birth. At this point they are called undescended testes. They might be palpable in the inguinal canal (in the inguinal region), which is not technically classed as undescended testes, although they have not fully descended at that point.

Answer 198

Watching and waitng, in most cases the testes will descedn in the first 3-6 months If not, Orchidopexy (surgical correction of undescended testes) should be carried out between 6 and 12 months of age. Undescended testes in older children or after puberty hold a higher risk of testicular torsion, infertility and testicular cancer.

Answer 199

Testicular torsion refers to twisting of the spermatic cord with rotation of the testicle. leading to ischaemia and eventually necrosis. **“6 hour window” after onset before damage from ischaemia is irreversible!**

Answer 200

- Quite common in adolescent boys and young men - Two peaks; one in the neonatal period and one around puberty, with a peak incidence of 13 to 15 years old Often triggered by playing sport - **ask about this in onset of symptoms**

Answer 201

- **Young age** - **Bell clapper deformity:** high riding testicle with a horizontal lie - - **Cryptorchidism:** undescended testis increase the risk of torsion and would usually present in the first few months of life - **Trauma:** trauma-induced torsion accounts for less than 10% of cases

Answer 202

Normally the testicle is **fixed posteriorly to the tunica vaginalis.** Bell-clapper deformity is where this fixation is absent. It allows testicle to rotate within tunica and as it rotates it twists the vessels and cuts of its blood supply

Answer 203

- **Swollen, high-riding and tender testicle: skin may be erythematous** - **Abnormal lie** - Horizontal lie - Rotated so that epididymis is not in normal posterior position - Elevated (retracted) testicle **absent cremasteric reflex, and prehns sign negative** *(Prehns is positive in epididymtis)*

Answer 204

- **Absent cremasteric reflex** - Swipe the superior and inner part of the thigh - A normal reflex contracts the cremaster muscle, pulling up the ipsilateral testis Reflex almost always absent - **Prehn’s negative:** - Pain is **not** relieved on lifting the ipsilateral testicle, unlike in epididymitis

Answer 205

- **Testicular pain** - Usually unilateral, sudden onset and excruciatingly painful - Often triggered by activity - Pain may be severe, intermittent and self-limiting; intermittent pain does **not** rule out torsion - **Nausea and vomiting** secondary to pain is common - **Lower abdominal pain:** referred pain - ***ADBO PAIN MAY BE THE ONLY SYMPTOM, SO ALWAYS DO TESTICULAR EXAM ON A LAD WITH UNEXPLAINED ABDO PAIN***

Answer 206

Imaging should not be considered if testicular torsion is suspected as it will delay surgery! Think of how much pain the poor man must be in don’t wait give him blood back to his testicle Surgical exploration: should be performed immediately if there is high clinical suspicion as it allows definitive diagnosis and management. Can do Testicular ultrasound: operator-dependent; ‘whirl-pool’ sign suggests torsion, as does decreased blood flow in the affected testicle on colour doppler **HAVE TO OPERATE WITHIN 6 HOURS OF SYMPTOM ONSET TO PREVENT NECROSIS**

Answer 207

- **Viable testicle** **Bilateral orchiopexy:** the affected testicle is untwisted and fixed to the scrotal sac. The contralateral testicle should always be fixed to prevent contralateral torsion - **Non-viable testicle** **Ipsilateral orchiectomy and contralateral orchiopexy:** removal of the affected testis and fixation of the contralateral testis to the scrotal sac to prevent contralateral torsion **HAVE TO OPERATE WITHIN 6 HOURS OF SYMPTOM ONSET TO PREVENT NECROSIS**

Answer 208

Hydrocele refers to a collection of serous fluid between the parietal and visceral layers of the tunica vaginalis (membrane covering the testes).

Answer 209

Simple - overproduction of fluid in the tunica vaginalis Communicating - processus vaginalis fails to close, allowing peritoneal fluid to communicate freely with the scrotal portion

Answer 210

Management Resolve spontaneously Many of infancy resolve by 2 years **Therapeutic aspiration** or surgical removal

Answer 211

Smooth, extra-testicular, spherical sac of fluid in the head of the epididymis (top of testicle). - also known as a *spermatocele*

Answer 212

- Investigations - **Scrotal ultrasound** - Differential diagnosis - **Hydrocele** - **Varicocele** - these are mostly astmpromatic Management - **Usually not necessary** - **Removed, if symptomatic**

Answer 213

The onset of secondary sexual characteristics before 8 or 9 gonadotrophin dependent (central, ‘true’ precocious puberty) from **premature activation of the hypothalamic–pituitary–gonadal axis.** The sequence of pubertal development would be **normal, described as ‘consonant’** Stimulated LH:FSH ratio > 1 gonadotrophin independent (pseudo, ‘false’ precocious puberty) from **excess sex steroids outside the pituitary gland.** The sequence of pubertal development would be abnormal, described as ‘dissonant’. Stimulated LH:FSH ratio < 1

Answer 214

Central malformation or damage e.g. hydrocephalus, neurofibromatosis Acquired- post-sepsis, surgery, radiotherapy, trauma, birth anoxia Brain tumours

Answer 215

Increased adrenal activity- congenital adrenal hyperplasia Exogenous sex steroids Gonadal tumour- ovarian/testicular tumours Hypothyroidism McCune Albright syndrome- polyostotic fibrous dysplasia

Answer 216

Short stature: early onset of puberty means a child loses 2-3 yrs of typical growth hormone-dependent growth (20cm in females and 30 cm in males) Psychological disturbance: child treated as older than their age, deprived of their childhood. Early menarche: particularly a practical consideration with onset in primary school-age – children where the school isn’t set up for it. Safeguarding concerns of early development, particularly in vulnerable special educational needs childr

Answer 217

GnRH **super-antagonists** can be given to suppress pulsatility of **GnRH secretion. - leuprorelin**, triptorelin *Continuous exposure to an agonist such as leuprorelin for several weeks causes pituitary GnRH receptors to become desensitised and no longer responsive, as release needs to be pulsatile* Detect and treat underlying pathology eg MRI scans to find tummour Reduce rate of skeletal maturation addressing psychological/behavioural difficulties associated with early progression through puberty.

Answer 218

Thyroid dysgenesis is a developmental abnormality of the thyroid gland. Either it doesn’t develop at all (agenesis) or it is poorly formed - 85% of cases Thyroid dyshormogenesis anatomically normal thyroid gland. An enzymatic defect means the thyroid is unable to produce thyroid hormone normally. This accounts for the remaining 15% of cases Don't forget iodine deficiency as well!!, this is still the most common cause of congenital hypothyroidism world wide!

Answer 219

new born blood spot = Guthrie test 1. CF. 2. Congenital hypothyroidism. 3. Sickle cell disease. 6 metabolic diseases e.g. MCADD, phenylketonuria and maple syrup disease etc.

Answer 220

Feeding difficulties Lethargy and increased sleeping Constipation Prolonged jaundice Hoarse cry Poor growth Macroglossia Myxedema Large fontanelles Hypotonia Bradycardia

Answer 221

Hypogonadotrophic hypogonadism (secondary): a deficiency of LH and FSH Hypergonadotrophic hypogonadism (primary): a lack of response to LH and FSH by the gonads (the testes and ovaries)

Answer 222

Previous damage to the hypothalamus or pituitary, for example by radiotherapy or surgery for previous cancer Growth hormone deficiency Hypothyroidism Hyperprolactinaemia (high prolactin) Serious chronic conditions can temporarily delay puberty (e.g. cystic fibrosis or inflammatory bowel disease) Excessive exercise or dieting can delay the onset of menstruation in girls Kallman syndrome - *genetic condition associated with reduced/absent sense of smell* **Basically, think of damage to brain, or things that may delay puberty**

Answer 223

Hypergonadotrophic hypogonadism is the result of abnormal functioning of the gonads. This could be due to: Previous damage to the gonads (e.g. testicular torsion, cancer or infections, such as mumps) Chemotherapy / Radiotherapy Galactosemia Trauma/surgery Congenital absence of the testes or ovaries Kleinfelter’s Syndrome (XXY) Turner’s Syndrome (XO)

Answer 224

when there is no evidence of pubertal changes in a **girl aged 13 or a boy aged 14** Full blood count and ferritin for anaemia U&E for chronic kidney disease Anti-TTG or anti-EMA antibodies for coeliac disease **Early morning serum FSH and LH** (the gonadotropins). Thyroid function tests Growth hormone testing. **Insulin-like growth factor I is often used as a screening test for GH deficiency**. **Serum prolactin** Genetic testing for: Kleinfelter’s syndrome (XXY) Turner’s syndrome (XO)

Answer 225

Early morning serum FSH and LH (the gonadotropins). These will be low in hypogonadotrophic hypogonadism and high in hypergonadotrophic hypogonadism. Imaging can be useful: Xray of the wrist to assess bone age and inform a diagnosis of constitutional delay Pelvic ultrasound in girls to assess the ovaries and other pelvic organs MRI of the brain to look for pituitary pathology and assess the olfactory bulbs in possible Kallman syndrome

Answer 226

Kallman syndrome is a genetic condition causing hypogonadotropic hypogonadism, resulting in failure to start puberty. It is associated with a reduced or absent sense of smell (anosmia).

Answer 227

X linked recessive or dominant.

Answer 228

It's a genetic condition caused by a congenital deficiency of the 21-hydroxylase enzyme. It is a genetic condition that is inherited in an autosomal recessive pattern.

Answer 229

It helps the body deal with stress, raise blood glucose, reduce inflammation and suppress the immune system. **Its a Glucocorticoid** - released from the Zona Fasicularis in the adrenal gland It is released in response to adrenocorticotropic hormone (ACTH) from the anterior pituitary.

Answer 230

act on the kidneys to control the balance of salt and water in the blood. Releasedin response to decreased perfusion at the JGA, so acts on the kidneys to increase **sodium and water reabsorption** into the blood and increase **potassium secretion** into the urine. increase sodium and decrease potassium in the blood. **Its a mineralocorticoid, released in response to Renin**, in the Zona Glomerulusa

Answer 231

21-hydroxylase is the enzyme responsible for converting progesterone into aldosterone and cortisol. Progesterone is also used to create testosterone, but this conversion does not rely on the 21-hydroxylase enzyme

Answer 232

there is a defect in the 21-hydroxylase enzyme. Therefore, because there is extra progesterone floating about that cannot be converted to aldosterone or cortisol, it gets **converted to testosterone** instead. The result is a patient with low aldosterone, low cortisol and **abnormally high testosterone**. *its a cause of 'false' or Gonadotrophin independant precocoious puberty, as FSH:LH is less than one *

Answer 233

virilised genitalia (in women) Patients with more severe CAH present shortly after birth with hyponatraemia, hyperkalaemia and hypoglycaemia. This leads to signs and symptoms: Poor feeding Vomiting Dehydration Arrhythmias

Answer 234

Lack of aldosterone So get Na loss and K+ increase = which impairs Kidneys **ability to excrete H+ ions, leading to metabolic acidosis** Due to Metabolic acidosis, the bicarbonate (HCO₃⁻) is used up to try and counteract/buffer acidotic blood, so in CAH, bicarbonate (HCO₃⁻) is low. pCO₂: Normal or slightly decreased, as kid is breathing more to blow off CO2, (respiratory compensation for the acidosis)

Answer 235

Patients who are less severely affected present during childhood or after puberty. Their symptoms tend to be related to high androgen levels. Female patients: Tall for their age Facial hair Absent periods Deep voice Early puberty Male patients: Tall for their age Deep voice Large penis Small testicles Early puberty skin hyperpigmentation, as anterior pituitary gland responds to the low levels of cortisol by producing increasing amounts of ACTH, a byproduct of which is Melanocyte simulating hormone

Answer 236

Cortisol replacement, usually with hydrocortisone, similar to treatment for adrenal insufficiency Aldosterone replacement, usually with fludrocortisone Female patients with “virilised” genitals may require corrective surgery Hyperkalaemia - can manage w insulin and dextrose, nut also salbutamol

Answer 237

This is an **x-linked recessive** condition due to a mutation in the androgen receptor gene. – This mutation **reduces the ability of androgen to bind to the receptor and exert its effects** – This leads to failed external virilisation in XY individuals giving them a female phenotype

Answer 238

In this situation, the body is completely unresponsive to testosterone. – This gives external female genitalia and sexual characteristics but **male internal reproductive organs.** (as female is the default sex) – These individuals are **typically raised as females until puberty** and may not even know they have the condition until symptoms start to show at puberty *When the Wolffian ducts are exposed to testosterone during embryogenesis, male sexual differentiation occurs: the Wolffian duct develops into the rete testis, the ejaculatory ducts, the epididymis, the ductus deferens and the seminal vesicles. Without the stimulation from androgens, as in androgen insensitivity syndrome, this development will not occur*

Answer 239

Symptoms: – Primary amenorrhoea –> no periods as these individuals lack a uterus – Groin masses –> due to undescended testes At puberty, serum levels of testosterone and LH are elevated. Conversion of testosterone to oestradiol in the testis and in peripheral tissues results in normal breast development. * Pubic and axillary hair development is absent or sparse. – May look more masculine in their appearance than XX girls

Answer 240

Partial Androgen Insensitivity This means that the body is partially responsive to testosterone, but less so than in healthy males. These individuals may be raised as males or as females Symptoms: – Genitalia may look typically female, typically male, or ambiguous – Born with male sex characteristics but often infertile and underdeveloped – Can experience breast enlargement at puberty

Answer 241

– For complete androgen insensitivity, the main idea is to raise the child as normal females – Counselling –> this provides psychological support – Surgery –> **bilateral orchidectomy to remove undescended testes reducing risk of testicular cancer** – Hormone therapy –> oestrogen to feminise children

Answer 242

1. Physical injury -> bruises, scratches, burns, fractures. 2. Sexual abuse -> behaviour change, physical symptoms e.g. bleeding, STI, pregnancy. 3. Emotional abuse -> relationships high in criticism and low in warmth. 4. Neglect -> care that does not meet the needs of a child.

Answer 243

- Disclosure. - Injury observed e.g. at school. - Incidental findings.

Answer 244

Acute lymphoblastic leukaemia (ALL) accounts for 80% of leukaemia in children. Most of the remainder is acute myeloid leukaemia

Answer 245

Malignant change in a Lymphocyte precursor cell, causing the acute proliferation of a single type of lymphocyte, **usually B-lymphocytes.** Leads them to replace the other cell types being created in the bone marrow, leading to a pancytopenia.

Answer 246

Most commonly affects with children Highest prevalence between 2-4 years Associated with Down’s syndrome

Answer 247

-Anaemia 🡪 breathlessness, fatigue, pallor Infection Hepatosplenomegaly Peripheral lymphadenopathy *(swollen lymph nodes)* CNS involvement 🡪 headache, cranial nerve palsies Easy bruising SVC obstruction, dilated superficial chest veins Bone marrow failure and bone pain

Answer 248

FBC 🡪 anaemia, thrombocytopaenia, neutropoenia, low reticulocyte count Blood film 🡪 leukaemic blast cells **Bone marrow aspiration and trephine biopsy**: diagnosis can be made if ≥ 20% of the cells in the sample are lymphoblast's CXR and CT 🡪 lymphadenopathy

Answer 249

Most common gene abnormality T (12;21), a translocation between genes 12 and 21

Answer 250

the testes and CNS are recognised as areas which are protected from chemotherapeutic agents (due to the existence of the blood brain barrier for CNS).

Answer 251

2nd MC childhood cancer - It can present at any age but normally presents from middle age onwards. It can be the result of a transformation from a myeloproliferative disorder, such as polycythaemia ruby vera or myelofibrosis. A blood film and bone marrow biopsy will show a high proportion of blast cells. Auer rods in the cytoplasm of blast cells are a characteristic finding in AML.

Answer 252

ALL peaks aged 2 – 3 years AML peaks aged under 2 years

Answer 253

**Supportive treatment** (blood/platelets/fluids/antibiotics) Correction of anaemia, thrombocytopenia and coagulation abnormalities Treatment of infection with IV antibiotics **Allopurinol** - prevention of acute tumour lysis syndrome **Chemo** needed to induce remission **BM transplant** and steroids to maintain

Answer 254

Tumour lysis syndrome is caused by the release of uric acid from cells that are being destroyed by chemotherapy. High uric acid High potassium (hyperkalaemia) High phosphate Low calcium (as a result of high phosphate) The uric acid can form crystals in the interstitial tissue and tubules of the kidneys and causes acute kidney injury.

Answer 255

Alopecia, nausea, vomiting, fatigue, neutropenia, sexual dysfunction, increased infection susceptibility, anaemia… Long term - **tumour lysis syndrome** age < 2 years or > 10 years WBC > 20 * 109/l at diagnosis T or B cell surface markers non-Caucasian male sex

Answer 256

Some human leukocyte polymorphisms can increase susceptibility to the disease - seen in HLA-DR and HLA-DQ (Human Leucocyte antigen system) Genes Coeliac disease may have link

Answer 257

Months to years

Answer 258

Gluconeogenesis, Glycogenolysis and ketogenesis. Patients as a result present with ketoacidosis and hyperglycaemia.

Answer 259

- Hyperglycaemia (above 11.1). - Polyuria (passing urine frequently). - Polydipsia (drinking water frequently) - Weight loss - Tiredness

Answer 260

- Random plasma glucose (above 11) - Fasting plasma glucose (above 7)

Answer 261

Glycohemoglobin test (HbA1c) It measures Glycated haemoglobin, a form of haemoglobin that is measured to identify the three month average plasma glucose concentration Reflects the degree of hyperglycaemia over the **preceding 3 months greater than 6.5% (48 mmol/mol)** indicates diabetes

Answer 262

A progressive disorder defined by deficits in insulin secretion and insulin resistance that lead to abnormal metabolism and related metabolic derangements

Answer 263

Repeated exposure to high levels of Glucose and insulin makes the cells in the body come resistant to insulin. Over time, the pancreas (specifically the beta cells) becomes fatigued and damaged by producing so much insulin and they start to produce less. Fasting glucose levels increases

Answer 264

Having the risk factors eg Older age Overweight/obese Being of a certain ethnic groups inc Black, south asiain, And coming in with: Fatigue Polydipsia and polyuria (thirsty and urinating a lot) ***Unintentional weight loss Opportunistic infections Slow healing***

Answer 265

Patient education about their condition and the lifestyle changes, advise that there is a possible cure. Exercise and weight loss, stop smoking Regarding food: - Include **high-fibre, low-glycaemic-index** sources of carbohydrate in their diet, such as fruit, vegetables, wholegrains, and pulses - Eat **low-fat dairy products and oily fish** - Limit their intake of foods containing saturated and trans fatty acids. **Needs annual reinforcement and review** Optimise treatment for other illnesses, eg hypertension

Answer 266

Medical management: First line: metformin titrated from initially 500mg once daily as tolerated. Metformin is a “biguanide”. It **increases insulin sensitivity and decreases liver production of glucose.** It is considered to be “weight neutral” and does not increase or decrease body weight. Management cardiovascular risks: An ACE inhibitor or an angiotensin-II receptor antagonist If an ACE inhibitor is not tolerated, use an angiotensin-II receptor antagonist instead *because metformin only increases insulin sensitivity instead of stimulating more insulin, it'll rarely cause hypoglycaemia*

Answer 267

Ketoacidosis is High levels of ketones in the blood due to cells in the body initiating the process of ketogenesis for fuel. The **ketone acids use up the bicarbonate buffer and the blood starts to become acidic.**

Answer 268

nsulin deficiency leads to release of free fatty acids from adipose tissue (lipolysis), hepatic fatty acid oxidation, and formation of ketone bodies), which result in ketonaemia and acidosis, as the bicarbonate buffer from the kidneys is used up

Answer 269

**Known to have diabetes, and are unwell** **Hyperkalaemia** Polydipsia polyuria, recent unexplained weight loss, or excessive tiredness, **Acetone smell on breath** Secondary: Nausea Abdominal pain[4][49] Hyperventilation Reduced consciousness.

Answer 270

**Venous blood gas** of: pH ≥7.0 indicates mild or moderate DKA. pH <7.0 indicates severe DKA Diabetes - blood glucose is >11.0 mmol/L blood ketones are >3.0 mmol/L - Ketonemia ketonuria (2+ or more on standard urine sticks) You obtain a blood gas which show pH7.15 PCO2 2.5 PO2 13 HCO3 7 GLU 27 - Metabolic acidosis w partial resp compensation , high glucose

Answer 271

**Venous blood gas (key)** Blood Glucose Blood ketones Urea and Electrolyte count They will have a **high sodium, as they are v dehydrated** Urine stick for ketones

Answer 272

***(Insulin makes you hypokalaemic), as it move postassium into your cells*** Serum potassium can be high or normal in diabetic ketoacidosis, as the kidneys continue to balance blood potassium with the potassium excreted in the urine, however total body potassium is low because no potassium is stored in the cells.

Answer 273

IV fluids. 1. Give a fluid bolus of 500 mL of normal saline (0.9% sodium chloride) over 10 to 15 minutes if the initial systolic blood pressure (SBP) is <90 mmHg. 10ml per Kilo If BP is >90mmHg, give 1L of normal saline over 60 minutes.

Answer 274

**Potassium and Insulin!!** 1. Add potassium to the **second litre of intravenous fluid** if serum potassium is ≤5.5 mmol/L ***(Insulin makes you hypokalaemic), as it move postassium into your cells *** 2. Start a fixed-rate intravenous insulin infusion (FRIII) according to local protocols; continue FRIII until DKA has resolved Ensure intravenous fluids have already been started before giving a FRIII.

Answer 275

Insulin binds to muscle and fat cells via receptors Which leads to intracellular glut4 vesicles to go to bind to the plasma membrane, which means that glucose will go and enter the cell via these GLUT4 membranes Glucose enters the cells

Answer 276

Symptoms of Diabetes (3Ps) + Fasting plasma glucose > 7 mmol/l OR No symptoms - GTT (75g glucose) fasting > 7 or 2h value > 11 mmol/l (repeated on 2 occasions) HbA1c of > 48mmol/mol (6.5%)

Answer 277

Using a combination of long-acting insulin (insulin detemir, degludec, or glargine) for **basal dosing,** and rapid-acting insulin (insulin lispro, aspart, or glulisine) for **bolus dosing**

Answer 278

If HbA1c rises to 58mmol/mol, consider dual therapy or metformin and one of either a sulfonylurea, - **(Gliclazide)** DPP-4 inhibitor **(Sitagliptin)** or SGLT-2 inhibitor **(Dapagliflozin)**, or Glitazone. **(Pioglitazone)** The decision should be based on individual factors and drug tolerance. **Most commonly metformin and an SU**

Answer 279

Trembling Palpitations Sweating Anxiety Hunger Nausea and Headache are non specific

Answer 280

Difficulty concentrating Confusion Weakness Drowsiness, dizziness Vision changes Difficulty speaking Nausea and Headache are non specific

Answer 281

a) Stop secreting insulin b) starts secreting glucagon c) Adrenaline release - Causes neuroglypenic symptoms d) Cognitive dysfunction e) Reduced conscious level, convulsions, coma

Answer 282

“Maturity-onset diabetes of the young” Commonest type of monogenic diabetes (~1% diabetes) Diagnosed <25y Autosomal dominant Non-insulin dependent **Single gene defect** altering beta cell function Tend to be non-obese **Monogenic - caused a mutation of one gene only**

Answer 283

Parent affected with diabetes **Absence of islet autoantibodies** Measurable C - Peptide - NOT SEEN ON SYNTHETIC INSULIN

Answer 284

Diagnosed <6 months (usually de novo): Signs: Small babies, epilepsy, muscle weakness

Answer 285

Increaes inssulin, as illness increases gluconeogenesis

Answer 286

he primary ketone body involved in diabetic ketoacidosis is **acetoacetate**

Answer 287

Astrocytoma (~40%) – varies from benign to highly malignant (glioblastoma multiforme). From astrocytes * Medulloblastoma (~20%) – arises in the midline of the posterior fossa. (cerebellum) May seed through the CNS via the CSF and up to 20% have spinal metastases at diagnosis. * Ependymoma (~8%) – mostly in posterior fossa where it behaves like medulloblastoma - ependymoma is a tumor that arises from the ependyma, a tissue of the central nervous system. *more commonly intracranial in kids*

Answer 288

Signs and symptoms are often related to evidence of raised intracranial pressure Headache often worse lying down Vomiting especially early morning Papilloedema Squint Nystagmus Ataxia Personality or behaviour change

Answer 289

If also papilloedema, decreased acuity, visual loss If also other neurological signs (or they develop) If recurrent and/or early morning If associated with vomiting if persistent, more frequent, preceded by headache If also have short stature / decelerated linear growth If have symptoms of diabetes insipidus If age < 3 years If child has neurofibromatosis (NF1)

Answer 290

Wilm’s tumour. Neuroblastoma. Rhabdomyosarcoma.

Answer 291

Nephroblastoma, malignancy arising from embryonal renal tissue.

Answer 292

1. Abdominal mass. 2. Haematuria. 3. Abdominal pain. 4. Anorexia. 5. Anaemia most commonly present in children aged 2 to 5 years Median Age at Diagnosis: Approximately 3.5 years.

Answer 293

The initial investigation is an ultrasound of the abdomen to visualise the kidneys. A CT or MRI scan can be used to stage the tumour. Biopsy to identify the histology is required to make a definitive diagnosis.

Answer 294

- Chemotherapy - before and after surgery. - Nephrectomy. - Radiotherapy for higher stage disease.

Answer 295

Tumours arising from neural crest tissue in the adrenal medulla and sympathetic nervous system.

Answer 296

1. Abdominal mass - often crosses the midline and envelopes major vessels and lymph nodes. 2. Symptoms of metastases e.g. bone pain, weight loss, pallor, limp, hepatomegaly.

Answer 297

- Surgery - localised primaries can often be cured with surgery alone. - Chemotherapy - can be given before and/or after surgery to control disease. - Radiotherapy for high risk groups.

Answer 298

Retinoblastoma is a malignant tumour of retinal cells The retinoblastoma susceptibility gene is on chromosome 13, and 1. Mutations in RB1 (tumour suppressor gene) located on chromosome 13. 2. Familial (AD) - the pattern of inheritance is dominant, but with incomplete penetrance. 3. can also be Sporadic. All bilateral tumours are hereditary, as are about 20% of unilateral cases

Answer 299

1. Loss of red reflex. 2. Pain around the eye. 3. Poor vision. 4. Squint

Answer 300

**Laser therapy is 1st line!** Also: chemotherapy radiation therapy phototherapy thermal therapy cryotherapy surgery - enucleation of eye

Answer 301

Osteosarcoma is a type of bone cancer. This usually presents in adolescents and younger adults aged 10 – 20 years. The most common bone to be affected is the femur. Other common sites are the tibia and humerus.

Answer 302

The main presenting feature is persistent bone pain, particularly worse at night time. This may disturb or wake them from sleep. Other symptoms that may be present include bone swelling, a palpable mass and restricted joint movements. *NICE guidelines recommend a very urgent direct access xray within 48 hours for children presenting with unexplained bone pain or swelling.*

Answer 303

Xrays - poorly defined lesion in the bone, with destruction of the normal bone and a “fluffy” appearance. Will also see periosteal reaction, classically described as a “sun-burst” appearance. There can an associated soft tissue mass. Blood tests may show a raised alkaline phosphatase (ALP). Further investigations is used to better define the lesion and stage the cancer: CT scan MRI scan Bone scan PET scan Bone biopsy

Answer 304

Hepatoblastoma Wilms tumour Neuroblastoma Lymphoma/leukaemia Sarcoma Constipation Enlarged kidneys – polycystic disease

Answer 305

Hepatoblastoma is a malignant liver cancer occurring in infants and children and composed of tissue resembling fetal liver cells, mature liver cells, or bile duct cells

Answer 306

Localised masses Lymphadenopathy Organomegaly Bone marrow infiltration - recurrent illness Airway obstruction from lymphadenopathy *The mediastinal mass may cause superior vena cava obstruction presenting with dyspnoea, facial swelling and flushing, venous distention in the neck, and distended veins in the upper chest and arms*

Answer 307

Enlarging node without clear infective cause Persistently enlarged node Unusual site e.g. supraclavicular If have associated symptoms and signs Fever, weight loss, enlarged liver/spleen If CXR abnormal

Answer 308

B symptoms in lymphomas—fever, drenching night sweats, and unintentional weight loss (>10% over six months)—are caused by systemic inflammation due to cytokine release (e.g., IL-6, TNF-α), tumor necrosis, and immune dysregulation. They reflect heightened metabolic demand and are important for staging, prognosis, and guiding treatment, often indicating more aggressive disease. a positron emission tomography (PET) scan. This uses a radioactive tracer to show the areas of high uptake and therefore areas of active malignancy.

Answer 309

1. give **5 rescue breaths** if there are no signs of breathing on initial assessment 2. check for signs of circulation infants use brachial or femoral pulse, children use femoral pulse 3. Then start CPR with a rate of 15 chest compressions to 2 breaths. This partly reflects the fact that the majority of paediatric arrests are secondary to airway or breathing problems. Adults is chest compressions : ventilations 30:2 chest compressions should be 100-120/ min for both infants and children

Answer 310

Management treatment is only indicated if living lice are found a choice of treatments should be offered - malathion, wet combing, dimeticone, isopropyl myristate and cyclomethicone household contacts of patients with head lice do not need to be treated unless they are also affected

CHILD'S HEALTH 2 - Derm, Infect. Disease, Neuro, Psych, Endo, Onc Flashcards

(334 cards)