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Flashcards in Paediatrics Deck (72):
1

A previously healthy 5 year old boy has a 1 day history of a low grade fever, colicky abdominal pain and a rash. He is well appearing and alert. His vital signs, other than a temperature of 38C are completely normal. A diffuse, erythematous, maculopapular, and petechial rash is present on his buttocks and lower extremities. He has no localised abdominal tenderness or rebound; bowel sounds are active. Laboratory data demonstrate:
Urinalysis: 30 RBCs/high powered field, ++ protein
Stool: Guaiac positive (positive for occult blood)
Platelets: 135x10(9)/L

These findings are most consistent with which of the following?
A) Henoch Schonlein purpura
B) Meningococcaemia
C) Child abuse
D) Leukaemia
E) Haemophilia B

A - Henoch Schonlein purpura

The clinical presentation described supports the diagnosis of HSP, a generalised, acute vasculitis of unknown cause involving small blood vessels. In this condition, the skin lesion, which is classic in character (palpable purpura) and distribution, is often accompanied by arthritis, usually of the large joints, and by GI symptoms. Colicky abdo pain, vomiting and melena are common.
Renal involvement occurs in a significant number of patients and is potentially the most serious manifestation of the disease. Although most children with complication recover, a few develop chronic nephritis. Lab studies are not diagnostic. Serum complement and IgA levels can be normal or elevated. Coagulation studies and platelets are normal. Meningococcal infection and leukaemia should be in the differential, as both can cause purpura, but in a well appearing child with normal vital signs and normal blood count they are unlikely. Child abuse and haemophilia will typically result in bruises not petechiae.

2

A 6 year old boy is often teased as school because he has stolid in his underwear almost daily for the last 3 months. He was toilet trained at 2 years of age without difficulty, but over the last 2 years he had developed ongoing constipation. His family is frustrated because they cannot believe him when he says "I didn't know when I had to go." He is otherwise normal; school is going well, and his home life is stable. His only finding on examination is significant for stool in the rectal vault. The plain radiograph of his abdomen shows a dilated, stool filled colon. Initial management of this problem should include which of the following?

A) Barium enema and rectal biopsy
B) Family counselling
C) Time-put when he stools in his underwear
D) Clear faecal impaction and short-term stool softener use
E) Daily enemas for 4 weeks

D - Clear faecal impaction and short-term stool softener use

Encopresis is defined as the passage of faeces in inappropriate locations after bowel control would be expected (usually >4 years). Encopresis is seen both with chronic constipation and overflow incontinence (retentive encopresis) and without constipation (non-retentive encopresis). Retentive encopresis is more common, and is the source of this child's problem. There is leakage of fluid stool around a large faecal impaction, resulting in retentive encopresis. Treatment involves clearing the faecal mass, maintaing soft stools for a short period of time with mineral oil or stool softeners (3-6 months), and behavioural modification. Most children will grow out of this condition. Time-out would be ineffective, because these children usually have dysfunctional anal sphincters and little control over the problem; they do not know they are soiling their clothes until it is too late. Daily enemas could potentially be harmful. A rectal biopsy would help diagnose Hirschsprung disease, but the story presented is not consistent with that diagnosis.

3

A 16 year old arrives to your office soon after beginning basketball season. He states that he has had progressive pain in his knees. A physical examination reveals, in addition to tenderness, a swollen and prominent tibial tubercle. Radiographs of the area are unremarkable. Which of the following is the most likely diagnosis?

A) Osgood-Schlatter disease
B)Popliteal cyst
C) Slipped capital femoral epiphysis
D) Legg-Calve-Perthes disease
E) Gonococcal arthritis

A

This history is typical Osgood-Schlatter disease. Microfractures in the area of the insertion of the patellar tendon in the tibial tubercle are common in athletic adolescents. Swelling,tenderness, and an increase in size of the tibial tuberosity are found. Radiographs can be necessary to rule out other conditions. Treatment consists of rest.

Legg-Calve-Perthers disease is avascular necrosis of the femoral head. This condition usually produces mild or intermittent pain in the anterior thigh but can also present as a painless limp. Gonococcal arthritis, although common in this age range, is uncommon in this anatomic site. More significant systemic signs and symptoms, including chills, fever, migratory polyarthralgia, and rash are commonly seen. Slipped capital femoral epiphysis is usually seen in a younger, more obese child (mean age about 10y) or in a thinner, older child who has undergone a rapid growth spurt. Pain upon movement of the hip is typical. Popliteal cysts are found in the posterior aspect of the knee. Observation is usually all that is necessary, as they typically resolve over several years. Surgical excision is indicated in the cysts progressively enlarges or if there are unacceptable symptoms associated with the cysts.

4

A 1 year old presents for a well-child checkup, but the parents are concerned about giving the child his immunisations. Which of the following is a true contraindication to the administration of the DTaP (diphtheria and tetanus toxoid an acellular pertussis) vaccine?

A) Child is currently on amoxicillin for an otitis media
B) Positive FHx of adverse reaction to DTaP vaccine
C) A past Hx of infantile spasms
D) Child is currently febrile to 39C
E) Prolonged seizures 6 days after the last DTaP vaccine

E

There are few true contract indications to vaccines, but many misconceptions. The one contraindication for all vaccines is a prior history of a severe allergic reaction to a component of the vaccine. For the DTaP, another contraindication is the occurrence is encephalopathy (such as coma, altered level of consciousness, or prolonged seizures) within 7 days of administration of the previous dose. Minor illnesses; current antibiotic therapy; Hx of local reaction (such as erythema or swelling) after previous immunisations; FHx of seizures, SIDS, or adverse events due to DTaP; and stable, non progressive neurologic conditions (eg. cerebral palsy, controlled seizures disorder or developmental delay) are not contraindications.

5

A 20 month old child is brought to A&E because of fever and irritability and refusal to move his right lower extremity. Physical examination reveals a swollen and tender right knee that resists passive motion. Which of the following is the most likely to yield the diagnosis in this patient?

A) Examination of joint fluid
B) X-ray of the knee
C) ESR
D) FBC and differential
E) Blood culture

A

All of the answers may ultimately done, but examination of the joint fluid is the key to diagnosis. The joint tap will reveal cloudy fluid containing a predominance of polymorphonuclear leukocytes. Organisms are readily sons on Gram stain examinational cultures of joint fldui and blood are usually positive. X-ray reveals a widened joint space. Finding pus in the joint indicated the need for immediate surgical drainage and prompt institution of IV antibiotic therapy to avoid serious damage to the joint and permanent loss of function. The most common organism found to cause septic arthritis is S.aureus. Since immunisation against Haemophilus influenza type B has become an establish practice, invasive disease such as septic arthritis caused by this organism is rarely seen. In sexually active adolescents, Neisseria gonorrhoea is a common cause of septic arthritis.

6

A 1 week old child's mother complains that the child has a transient rash that has splotchy areas of erythema with a central clear pustule. Your microscopic examination of the liquid in the pustule reveals eosinophils.

Most likely diagnosis?
A) Sebaceous naevus
B) Salmon patch
C) Neonatal acne
D) Pustular melanosis
E) Erythema toxicum
F) Seborrheic dermatitis
G) Milia

E

Erythema toxic is a benign, self-limited condition of unknown aetiology. It is found in about 50% of term newborns. Lesions are yellow-white and 1-2mm in size, with a surrounding edge of erythema. This rash waxes and wanes over the first days to weeks of life. Examination of the fluid from these lesions demonstrates eosinophils. No therapy is indicated.

7

An adolescent boy complains of a splotchy red rash on the nape of neck, discovered when he had his head shaved for football season. The rash seems to become more prominent with exercise or emotion. His mother notes that he has had a rash since infancy, but that it becomes invisible as hair grew. He had a similar rash on his eyelids that resolved in the newborn period.

Most likely diagnosis?
A) Sebaceous naevus
B) Salmon patch
C) Neonatal acne
D) Pustular melanosis
E) Erythema toxicum
F) Seborrheic dermatitis
G) Milia

B

Salmon patches (aka nevus simplex or flameus) are flat vascular lesions that occur in listed regions and appear more prominent during crying. The lesions on the face fade over the first weeks of life. Lesions found over the nuchal and occipital areas often persist. No therapy is indicated.

8

A nurse calls you to evaluate an African American newborn, whom she thinks has a bacterial skin infection. The areas in question have many scattered pustules full of a milky fluid. Upon examining pustules, they are easily wipe away, revealing a small hyper-pigmented macule.

Most likely diagnosis?
A) Sebaceous naevus
B) Salmon patch
C) Neonatal acne
D) Pustular melanosis
E) Erythema toxicum
F) Seborrheic dermatitis
G) Milia

D

Pustular melanosis is another benign, self-limited disease of unknown aetiology of the newborn period. It is more common in blacks than in whites. These lesions are usually found at birth and consist of 1-2mm pustules that result in a hyper-pigmented lesion upon rupture of the pustule. The pustular stage of these lesions occurs during the first few days of life, with the hyper-pigmented stage lasting for weeks to months. No therapy is indicated.

9

The obstetric resident on call asks you to evaluate an area of newborn's scalp that seems to have no hair and is scaly and yellowish.

Most likely diagnosis?
A) Sebaceous naevus
B) Salmon patch
C) Neonatal acne
D) Pustular melanosis
E) Erythema toxicum
F) Seborrheic dermatitis
G) Milia

A

Sebaceous nevis are small, sharply edged lesions that occur most commonly on the head and neck of infants. These lesions are yellow-orange in colour and are slightly elevated. They usually are hairless. Malignant degeneration is possible, most commonly after adolescence.

10

A newborn's mother complains that her infant seems to have very small white dots all over his nose. The dots do not wipe off with bathing but they are also not erythematous.

Most likely diagnosis?
A) Sebaceous naevus
B) Salmon patch
C) Neonatal acne
D) Pustular melanosis
E) Erythema toxicum
F) Seborrheic dermatitis
G) Milia

G

Milia are fine, yellowish white, 1-2mm scattered over the face and gingival of the neonate. They are cysts that contain keratinised material. Commonly, these lesions resolve spontaneously without therapy. When on the palate, they are called Epstein pearls.

11

A newborn's father complains that his son has dandruff, with many waxy flakes of skin on the scalp. When he scrapes the lesions, hair often comes off with the flakes of skin. In addition, the baby has flaking of the eyebrows.

Most likely diagnosis?
A) Sebaceous naevus
B) Salmon patch
C) Neonatal acne
D) Pustular melanosis
E) Erythema toxicum
F) Seborrheic dermatitis
G) Milia

F

Seborrhoeic dermatitis can begin anytime during life and frequently presents as cradle cap in the newborn period. This rash is communly greasy, scaly, and erythematous and in smaller children involves the face, neck, axilla and diaper area. In older children, the rash can be localised to the scalp and intertriginous areas. Pruritus can be marked.

12

A 3 year old boy awakens every night around 2am screaming incoherently. His parents note that he is agitated, seems awake but unresponsive and goes back to sleep within a few minutes. He has no memory of the episodes in the morning.

Choose the sleep disturbance most consistent with the history
A) Night terrors
B) Nightmares
C) Learned behaviour
D) Obstructive sleep apnoea
E) Somniloquy

A

Night terrors (pavor nocturnus) are non-REM phenomena seen less commonly than nightmares, occurring in 1-6% of all children. The child will be described as apparently awake but unresponsive; they can have evidence of autonomic arousal such as tachycardia, sweating and tachypnoea and appear frightened and agitated. Attempts at calming the child are usually not effective, and the child will eventually go back to sleep. Although usually a problem in early childhood, night terrors can sometimes continue through adolescence.

13

A 15 month old toddler continues to wake up crying every night. Her parents give her a night time bottle, rock her, and sing to her to help her go back to sleep. Her parents are exhausted and ask you if she is having bad dreams.

Choose the sleep disturbance most consistent with the history
A) Night terrors
B) Nightmares
C) Learned behaviour
D) Obstructive sleep apnoea
E) Somniloquy

C

Many children resist going to bed, and parents frequently give in just to get the child to sleep by allowing the child to sleep in the parents' bed or allowing them to stay up late. Unfortunately, learn remarkably well how to get what they want, and the parents' concessions only make the problem worse. Learned behaviour is the root of many sleep disturbances in young children.

14

Parents hear over their baby monitor that their 5 year old girl regularly calls our during the night. When the parents check on her, she is sleeping comfortably and is in no apparent distress.

Choose the sleep disturbance most consistent with the history
A) Night terrors
B) Nightmares
C) Learned behaviour
D) Obstructive sleep apnoea
E) Somniloquy

E

Somnambulism, or sleepwalking, occurs in 15% children and is described as recurrent episodes of rising from bed and walking around. The child is typically hard to arouse and will have amnesia after the events. This usually happens in the first third of the sleep cycle during stage 4 non-REM sleep. Somniloquy, or sleep talking, can occur at any sleep stage and is seen in all ages.

15

A 4 year old boy occasionally wakes in the middle of the night crying. When his parents check on him, he seems visibly frightened and tells his parents that Chihuahuas were chasing him.

Choose the sleep disturbance most consistent with the history
A) Night terrors
B) Nightmares
C) Learned behaviour
D) Obstructive sleep apnoea
E) Somniloquy

B

A nightmare is a scary or disturbing dream that usually awakens the child and causes agitation about the content of the dream. Nightmares occur during REM sleep. Many children and adults have an occasional nightmare; recurrent or frequent nightmares, however, may be indicative of an on-going stress in the child's life.

16

A 5 year old child refuses to sleep in his bed, claiming there are monsters in his closet and that he has bad dreams. The parents allow him to sleep with them in their bed to avoid the otherwise inevitable screaming fit. His parents note that the child sleeps soundly, waking only at sunrise.

Choose the sleep disturbance most consistent with the history
A) Night terrors
B) Nightmares
C) Learned behaviour
D) Obstructive sleep apnoea
E) Somniloquy

C - learned behaviour.

17

Give common causes of congenital infections

CHEAP TORCH

Chickenpox
Hepatitis B, C, (D), E
Enterovirus
AIDS
Parvovirus B19

Toxoplamsosis
Other - syphilis, GBS, Listeria, Candida, Lyme,
Rubella
CMV
HSV

18

Congenital Rubella infection presentation triad

Sensorineural hearing loss + ocular abnormalities + congenital heart defect


Ocular abnormalities include cataracts, infantil glaucoma, chorioretinitis, retinitis pigmentosa

Heart defects include PDA, pulmonary artery stenosis, ASD, VSD

19

In which of the following conditions is the abdominal viscera herniated through the umbilical cord and encased in a transparent membrane?

A) Hirschsprung's
B) Gastroschisis
C) Congenital Rubella
D) Exomphalos
E) Thalassemia

D - exomphalos.

This is a defect in development as the bowel fails to return to the abdomen during embryogenic development.

C.f. gastroschisis where the abdominal viscera herniates through an anterior abdominal wall defect adjacent to the umbilical cord and is NOT encased in a membrane.

20

A 1 year old boy has been admitted three times in the past with abscess formation requiring incision and drainage. He is now admitted for surgical drainage of a hepatic abscess identified on USS.

Most appropriate diagnostic laboratory test:
A) ESR
B) Serum immunoglobulin levels
C) Nitroblue tetrazolium (NBT) test
D) CH50 assay
E) FBC demonstrating Howell-Jolly bodies
F) Platelet count
G) Intradermal skin test using Candida albicans

C) Nitroblue tetrazolium test

The NBT or other respiratory burst assay will help identify phagocytic-cell defects such as chronic granulomatous disease (causing the frequent liver abscess in the child)

21

A 5 month old infant is admitted with severe varicella infection. The lesions cover the infant's entire body, and the infant is beginning to show symptoms of respiratory distress. PMHx is significant for a history of atopic dermatitis. The family also notes frequent epistaxis; the last episode required nasal packing in A&E.

Most appropriate diagnostic laboratory test:
A) ESR
B) Serum immunoglobulin levels
C) Nitroblue tetrazolium (NBT) test
D) CH50 assay
E) FBC demonstrating Howell-Jolly bodies
F) Platelet count
G) Intradermal skin test using Candida albicans

F - Platelet count.

Wiskott-Aldrich syndrome is unlikely if the platelet count is normal; Wiskott-Aldrich syndrome must be considered in a patient with severe eczema, thrombocytopenia, and unusual infections.

22

A 3 year old has had repeated episodes on sinusitis and otitis media. He was recently admitted for osteomyelitis of his femur with S.aureus. The family notes that while his first 4-5 months of life were normal, he has been persistently ill with multiple infections in the ensuing months. The mother notes that her brother had similar problems with infections and died at the age of 3 years from a 'lung infection'. Physical examination is significant for the absence of lymph nodes and tonsillar tissue.

Most appropriate diagnostic laboratory test:
A) ESR
B) Serum immunoglobulin levels
C) Nitroblue tetrazolium (NBT) test
D) CH50 assay
E) FBC demonstrating Howell-Jolly bodies
F) Platelet count
G) Intradermal skin test using Candida albicans

B - Serum immunoglobulin levels

B cell defects are likely to result in low IgA, G & M levels and result in multiple infections such as that described in the 3 year old with otitis media and sinusitis.

23

A GP refers to you for evaluation a 3 year old boy with frequent infections. You note the child to have a loud systolic murmur, posteriorly rotatedears that are small and low-set, down-slanting and widely spaced eyes, a small jaw, and an upturned nose. At birth the child spent 2 weeks in the nursery for "low calcium" and seizures, and he still receives calcium supplementation, but the mother does not know why. You would like to order a rapid diagnostic test for this child.

Most appropriate diagnostic laboratory test:
A) ESR
B) Serum immunoglobulin levels
C) Nitroblue tetrazolium (NBT) test
D) CH50 assay
E) FBC demonstrating Howell-Jolly bodies
F) Platelet count
G) Intradermal skin test using Candida albicans

G - intradermal skin test using candida albicans

An intradermal test using Candida albicans will result in no response in the patient with T cell deficiencies, such as in the question of the dysmorphic child who possibly has DiGeorge syndrome.

24

A 2 year old girl has had 2 episodes of Neisseria meningitides septicaemia and is now admitted for Strep pneumonia septicemia.

Most appropriate diagnostic laboratory test:
A) ESR
B) Serum immunoglobulin levels
C) Nitroblue tetrazolium (NBT) test
D) CH50 assay
E) FBC demonstrating Howell-Jolly bodies
F) Platelet count
G) Intradermal skin test using Candida albicans

E) - FBC demonstrating Howell-Jolly bodies

Asplenia results in Howell-Jolly bodies and also an increased risk for encapsulated organisms such as pneumococcus or meningococcus; a FBC with a peripheral smear can rule out this disease.

25

A mother calls you frantic because she has just been diagnosed with chickenpox. She delivered 7 days ago a term infant that appears to be eating, stooping, and urinating well. The child has been afebrile and seems to be doing well. Which of the following is the most appropriate step in the management?

A) Isolate the infant from the mother
B) Hospitalize the infant in the isolation ward.
C) Administer acyclovir to the infant
D) Administer VZV immunoglobulin to the infant
E) Advise the mother to continue regular well-baby care for the infant.

E

VZIG is recommended for infants whose mothers develop chickenpox (but not herpes zoster) in the period seven days before to seven days after delivery. VZIG can be given without antibody testing of the infant. VZIG is not usually required for infants born more than 7 days after the onset of maternal chickenpox or whose mothers develop zoster before or after delivery, as these infants will have maternal antibody. VZIG is also recommended for:
a) VZ antibody-negative infants exposed to chickenpox or herpes zoster (other than in the mother) in the first 7 days of life
b) VZ antibody negative infants of any age exposed to chickenpox of herpes zoster while still requiring intensive or prolonged special care nursing.

26

You are seeing a 2 year old boy for the first time. His father denies any PMHx or PSHx, but does note that the child's day care recently sent a note home asking about several episodes, usually after the child does not get what he wants, when he 'breathes funny' and sits in the corner with his knees under his chin for a few minutes. The day-care staffers think this 'self-imposed time out' is a good thing, but they worry about the breathing. One teacher even thought he once looked blue, but decided that it was probably because of the finger paints he had been using. O/E you identify a right ventricular impulse, a systolic thrill along the left sternal border, and a harsh systolic murmur (loudest at the left sternal border but radiation through the lung fields). His chest radiograph shows a "boot shaped" heart. Which of the following congenital cardiac lesions would you expect to find in this child?

A) PDA
B) Right ventricular outflow obstruction
C) ASD
D) Transposition of the great vessels with a PFO
E) Hypoplastic left heart

B - Right ventricular outflow obstruction

This child has tetralogy of Fallot, which consists of right ventricular outflow obstruction (pulmonary stenosis), VSD, dextraposition of the aorta, and right ventricular hypertrophy.

As well as the radiograph showing the typical "boot shaped" heart, an ECG demonstrates the increased right ventricular forces. Children with tetralogy of Fallot may have cyanotic episodes ("tet spells") associated with acute reduction in pulmonary blood flow. Typically, these spells are self-limited, lasting no more than 30 minutes. Assuming the knee-chest position is thought to increase peripheral resistance, decreasing the amount of right-to-left shunting and thus increasing pulmonary blood flow. Alternative therapies include morphine sulphate and propranolol. Prolonged hypoxia can lead to acidosis; correction may require infusion of sodium bicarbonate.

Patent ductus arteriosus is likely to present in this aged child with a constant, machine-like murmur, and if the flow is big enough, with evidence of progressive congestive heart failure. An ASD will have a fixed split second heart sound and a pulmonic stenosis murmur; it can also present with progressive evidence of heart failure if the flow across the ASD is large enough. Transposition of the great vessels with a PFO and hypo plastic left heart syndrome are neonatal conditions; presentations are in the newborn period.

27

For the past year, a 12 year old boy has had recurrent episodes of swelling of his hands and feet, which has been getting worse recently. These episodes occur following exercise and emotional stress, last for 2-3 days, and resolve spontaneously. The last episode was accompanied by abdominal pain, vomiting and diarrhoea. The results of routine laboratory workup are normal. An older sister and a maternal uncle have had similar episode, but they were not given a diagnosis. He presents today with another episode.Which of the following is the most likely diagnosis?

A) SLE
B) Focal glomerulosclerosis
C) Congenital nephrotic syndrome
D) Hereditary angioedema
E) HSP

D - Hereditary angioedema

This conditions often worsens in adolescents. Although hereditary angioedema is relatively rare as a cause of oedema, the recurrent episodes in late childhood, the normal lab results, and the family history make the other choices less likely. Hereditary angioedema, transmitted as an autosomal dominant trait, is a result of inadequate function (owing to either deficient quantity or quality) of an inhibitor of the first step in the complement cascade, which results in the excessive production of a vasoactive kinin. In addition to otherwise asymptomatic subcutaneous oedema, oedema can occur in the GI tract and produce the symptoms mentioned in the question. Laryngeal oedema with airway obstruction can also occur.

28

A 10 month old infant has poor weight gain, a persistent cough, and a history of several bouts of pneumonitis. The mother describes the child as having very large, foul-smelling stools for months. Which of the following diagnostic manoeuvres is likely to result in the correct diagnosis of this child?

A) CT of the chest
B) Serum Igs
C) TB skin test
D) Inspiratory and expiratory CXR
E) Sweat chloride test

E - Sweat chloride test

Cystic fibrosis (CF) is multi system disease caused by an abnormally functioning CFTR protein. Abnormal secretions are produced as a result of decreased permeability of ionised chloride in the secretory epithelium of a number of organs. Progressive lung failure is caused by accumulation of viscid secretions that obstruct the airway and lead to infection, bronchiectasis, and inflammatory changes. Survival has improved markedly during the past few decades as a result of prompt recognition of CF and aggressive treatment; the median age at death has increased from less than 10 years to more than 30 years. Therapeutic approaches have included inhalation therapy, chest physical therapy, aggressive antibiotic administration, bronchodilators, oxygen and nutritional support. Heart-lung transplants have prolonged life and improved quality of life for some terminal patients. Several new approaches to the treatment of CF have been proposed, namely, the use of amiloride, purified human plasma a1-antitrypsin, recombinant DNAse, and gene therapy. The rationale for these therapeutic modalities is that they focus directly on ameliorating or correcting the basic deficit: amiloride by inhibiting sodium and with it water reabsorption, thereby improving airway dehydration: a1-antitrypsin by counteracting the effects on the lungs of neutrophil elastase, a proteolytic enzyme released by neutrophils; DNAse by reacting with DNA released by dead leukocytes to reduce sputum viscosity; and gene therapy by altering genetic material. Lung cancer does not appear to be associated with CF.
Unlike many other tests, there is almost no overlap in chloride values in sweat between patients with CF and normal control participants. A chloride concentration of >60mmol/L is diagnostic, values

29

A 13 year old develops fever, malaise, sore throat, and a dry, hacking cough over several days. He does not appear to be particularly sick, but his chest examination is significant for diffuse crepitations and rhonchi. The CXR shows reticulonodular opacities in the right upper lobe and prominence of the right hilum. Which of the following is the most likely pathogen?

A) S.aureus
B) M. tuberculosis
C) H. influenzae
D) S. pneumoniae
E) M. pneumonia

E - M. pneumonia

The radiograph is consistent with Mycoplasma pneumonia. Infections with M. pneumonia are common in older children and young adults. Although the infection typically produces an interstitial infiltrate, its effects are characteristically non-specific, and it can produce lobar pneumonia as well. It produces an URTI, pharyngitis, otitis media and externs, bronchiolitis, haemolytic anaemia, and Guillain-Barre syndrome. Treatment of choice is a macrolide antibiotic.

S. aureus traditionally is seen in infants

30

A previously healthy 18 month old has been in a separate room from his family. The family notices the sudden onset of coughing, which resolves in a few minutes. Subsequently, the patient appears to be normal except for increased amounts of drooling and refusal to take foods orally. Which of the following is the most likely explanation for this toddler's condition?

A) Severe gastro-oesophageal reflux
B) Foreign body in the airway
C) Croup
D) Epiglottis
E) Foreign body in the oesophagus

E - foreign body in the oesophagus

Many types of objects produce oesophageal obstruction in young children, including small toys, coins and food. Most are lodged below the cricopharyngeal muscle at the level of the aortic arch. Initially, the foreign body may cause a cough, drooling and choking. Later, pain, avoidance of food (liquids and tolerated better), and SOB can develop. Diagnosis is by history and by radiographs (especially if the object is radiopaque). The usual treatment is removal of the object via oesophagoscopy.
Severe gastro-oesophageal reflux would likely not present with acute findings as those outlined in the question, but rather with ongoing respiratory symptoms (asthma or pneumonia) or failure to thrive. Symptoms of foreign body in the airway may present acutely as described with resolution as the offending object settles in the lung, but the symptoms of failure to drink and to begin drooling would not be expected. Croup causes a barking cough, often at night, several days after an acute URTI. Epiglottitis can be diagnosed in a toxic appearing, febrile child with stridor.

31

A 15 year old girl with short stature, neck webbing and sexual infantilism is found to have coarctation of the aorta. A chromosomal analysis likely would demonstrate which of the following?

A) Mutation of chromosome 15q21.1
B) Trisomy 21
C) XO karyotype
D) Defect at chromosome 4p16
E) Normal

C - XO

Short stature, neck webbing, sexual infantilism and a shield-like chest with widely spaces nipples are signs of Turner syndrome, which is associated with an XO karyotype. Aortic coarctation occurs in about 15-20% of those with this disorder. Down syndrome is most commonly associated with endocardial cushion defects or VSD. Marfan syndrome (mutation 15q21.1) is associated with dilation of the aorta and mitral + aortic regurgitation. Ellis-van Creveld syndrome (4p16) is associated with ASD.

32

You are called acutely to the postnatal ward to see a 48 hour old baby girl. She was seen the day before by your colleague who performed her baby-check and found no abnormalities. On arrival you find a baby who is grunting and cyanotic. All pulses are palpable and there is no murmur on auscultation of the chest. You transfer her to the neonatal unit where you find her O2 sats are 55% OA.

A Coarctation of the aorta
B Eisenemnger's syndrome
C Patent ductus arteriosus
D Tetralogy of Fallot
E Transposition of the great arteries

Transposition of the great arteries.

This neonate is clearly unwell. With these features you should be very suspicious of congenital sepsis or pneumonia so your priority would be to perform blood cultures, CRP, FBC, and CXR. Empirical Abx should be commenced without delay.
These features are also suspicious of a cardiac lesion. Tetralogy of Fallot would usually not present so early in life and would usually be associated with a pulmonary stenosis murmur. In transposition of the great arteries, affected children are dependent on the ductus arteriosis to supply oxygenated blood to the systemic circulation. As the duct closes after birth the baby will become profoundly cyanotic and acidotic. CXR will show a characteristic narrow mediastinum with an egg-on-side appearance of the heart shadow.
Coarctation of the aorta also often presents when the ductus closes but this is not a cyanotic disease and the baby would usually present with shock, poor perfusion of the limbs distal to the lesion and absent femoral pulses.Eisenmenger's syndrome is a cyanotic heart lesion that occurs later in life with reversal of flow across septal defects due to RV hypertrophy.

33

McCune-Albright syndrome

Sporadic genetic condition characterized by precocious puberty (due to primary ovarian cysts secreting oestradiol), cafe-au-lait spots and polyostotic fibrous dysplasia.

34

A 9 month old boy as gastroenteritis. He is febrile and tachycardic. O/E he has a normal capilllary refill time, a slight reduction in skin turgor and dry mucous membranes. He is not wetting his nappies as much as usual.
% weight expected to be lost from dehydration?
A 0%
B 5%
C 10%
D 15%
E 20%

10%
This child is moderately dehydrating, equating to 10% weight loss in infants. Key features:- thirsty, restless/lethargic- Tachycardic, weak pulses- orthostatic hypotension- slightly reduced skin turgor and depressed fontanelles- dry mucous membranes- oliguria.

35

A 6 month old girl born in India is referred to you by her GP as she is not growing along the centiles. She was born on the 50th centril and has now dropped below the 2nd centile despite a good intake. She has had 2 chest infections but has never needed to be hospitalised. O/E she looks thin bu is not pale. Her abdomen is no distended and is soft on palpation.Investigation most likely to give you a cause for her failure to thrive?
A FBC
B IgA
C No investigation necessary
D Sweat test
E TFTs

Sweat test
This girl is likely to have CF, which is diagnosed with a sweat test. She was not born in the UK and so would have missed out on the neonatal screening. A common presentation of CF is FTT along with a history of chest infections.

36

Which of the following PEFRs would suggest a severe exacerbation of asthma?
A 75-100%
B 50-75%
C 33-50%
D

33-50%
Moderate = 50-75%
Severe = 33-50%
Life-threatening =

37

A 4 year old boy, who was previously fit and well, developed some petechial spots on his legs after climbing a tree. A few days later, the rash has spread over his entire body. He has not been any more lethargic than normal and was eating well. O/E you note a large bruise on his hip and a black eye which his mother could not give any explanation for.
Which of the following investigations would be likely to confirm the diagnosis?
A BM biopsy
B Clotting screen
C FBC
D Skeletal survey
E No investigation required

FBC

This boy most likely has ITP, which is diagnosed by a very low platelet count (

38

A 5 year old girl has suffered from arthritis for the last 6 months. It only affects her knees and elbows. and she has never had sacroiliac tenderness or nail problems. She has no rash or fever, but she does have regular opthalmology follow-up due to her increased risk of developing uveitis. Blood tests reveal that she is ANA positive but RF negative.

A Enthesitis
B Oligoarticular JIA
C Polyarticular JIA
D Systemic JIA
E Psoriatic arthritis

Olgiarticular JIA

JIA is defined as arthritis of unknown aetiology beginning before the 16th birthday and persisting for at least 6 weeks where other known conditions are excluded.JIA is categorised into:

1) Systemic JIA - arthritis with a quotidian fever + fluctuating macular salmon rash (affecting mainly trunk and proximal limbs). Also can present with hepatosplenomegaly, lymphadenopathy and serositis.

2) Oligoarticular JIA - ≤4 joints. Accounts for 60, most common in girls. Medium sized joints, Associated with anterior uveitis and highest ANA.

3) Polyarticular JIA - 5 or more joints. Small joints of hands or feet. Older girls. RF positive. c-spine andTMJ can also be affected.

4) Psoriatic arthritis - DIP joints. Nail changes.

5) Enthesitis-related arthritis - tendons. Tenderness of sacro-iliac joint. HLA-B27 associated.

39

A 13 month old boy presents to the GP. He has a 24 hour history of irritability. His mother reports he has been 'tugging' at his left ear. His temperature is 38.2C. O/E of the left ear, there is a bulging red tympanic membrane.

A 5 days of oral Abx
B Insertion of oil to the external ear canal
C No action required
D Oral analgesia
E Oral antihistamine

Oral analgesia

Acute otitis media is a purulent middle ear process. Earache is the single most important symptom. Other ear-related symptoms include tugging and rubbing of the ear, irritability, restless sleep and fever. Non-specific symptoms such as cough and rhinorrhoea may also be present. Examination with an otoscope may reveal a bulging tympanic membrane with loss of normal landmarks and change in colour and poor mobility. Paracetamol to control discomfort and and as antipyretic is the most appropriate. Abx should not be used first line but after trialling on analgesia. If prescribed, a 5 day regimen is recommended.

40

A 4 year old boy presents with a 10 month history of cough. This occurs most nights and he is usually symptom free during the day. He has had 2 episodes of wheeze, the first at 9 months of age associated with bronchiolitis and the 2nd when he was 3 years of when he had a viral URTI.Which of the following would you like to perform?
A CXR
B PEFR before and after bronchodilator
C pH study
D Sweat test
E Trial of therapeutic bronchodilator

Trial of therapeutic bronchodilators.

This child has asthma. The diagnosis of asthma can usually be made from the history and examination, though you may like to perform some investigations. A CXR may show hyperinflation but with mild symptoms it would be hard to justify exposing the child to radiation. PEFR is very useful in asthma as it is easy to perform. PEFR becomes even more useful if a diary is maintained documenting morning, evening and pre/post bronchodilator PEFRs. However, most children under 5 years are unable to perform this coordinated test, so a trial of bronchodilators would be the most useful diagnostic test. If the cough persisted despite this, further investigation is warranted.

41

A 3 year old girl as increased tone of her lower and upper limbs. Her legs are affected more than her arms and she has exaggerated reflexes in both her legs. You note that she has an abnormal gait, walking on her tiptoes with her knees and hips both flexed. She was born at 25 weeks gestation and she had a stormy course during the neonatal period.
What type of cerebral palsy is this girl most likely to have?

A Ataxic CP
B Athetoid CP
C Diplegic CP
D Hemiplegic CP
E Quadraplegic CP

Diplegic CP

CP is a group of disorders affecting movements caused by a permanent, non-progressive lesion in the developing brain. It is primarily a disorder of movement, but it is often couple with other neurological problems. Although it is non-progressive, the clinical picture can change as the child grows and develops. Diagnosis is clinical. During the first year of life there is abnormal tone (initial hypotonia which eventually leads to spasticity). There is usually delay in gross motor development and abnormal movements Often primitive reflexes persist longer than they should.
CP can be divided into different forms
1 Spastic (70%)
- Hemiplegic
------- One side, often arm>leg
------- circumducting gait
- Diplegic
------- One set of limbs worse than another
------- Leg scissoring, walk on tiptoes, equinovarus feet with flexed knees and hip
------- Associated with periventricular leukomalacia
- Quadraplegic
2 Ataxic
3 Dyskinetic aka athetoid
4 Mixed

42

A 2 year old girl presents with a 6 week history of foul smelling diarrhoea. She has also lost some weight. O/E, her abdomen looks full and slightly distended.
Most appropriate first line investigation

A anti-gliadin IgA
B Large bowel biopsy
C Small bowel biopsy
D Stool sample
E TTG IgA

TTG IgA

This girl has coeliac disease. It affects 1 in 1000 and children can present with FTT, diarrhoea, steattorrhoea, fatigue, abdominal distension and pain, muscle wasting and IDA.
Antigliadn Ab was initially used in diagnosing coeliac disease. This has now been replaced by TTG and anti-endomyseal IgA testing which have shown to have sensitivity and specificites of >95%. Guidelines at present recomment using IgA TTG as the initial screening test and if this positive to add EMA to further increase the specificity. It must be remembered that those who are IgA-deficient may have a falsely negative test and therefore should have IgA levels measure at the same time as the TTG. The gold standard diagnositc technique is duodenal or jejunal biopsies taken during endoscopy. Characteristic histological findings are coeliac disease are:

- partial or total villous atrophy
- crypt hyperplasia and lengthening
- intraepthelial lymphocytes.

43

7 causes of villous atrophy

1 Coeliac disease
2 Temporoary gluten intolerance secondary to gastroschisis
3 Tropical sprue
4 Kwashiorkor
5 Cow's milk intolerance
6 Giardiasis
7 SCID

44

A 9 year old boy suffers from epilepsy. His mother describes his seizures as infrequent. She normally hears a strange noise int he night from her son's room and then finds him twitching the R hand side of his mouth and face. He is usually drooling and is unrousable. This lasts for a few minutes and the child has no recollections of the event. A subsequent EEG shows high amplitude spikes in the L centrotemporal region.
Type of epilepsy?

A Absence seizures
B Benign rolandic seizures
C Juvenile myoclonic seizures
D Lennox-Gastaut type epilepsy
E Tonic-clonic epilepsy

Benign rolandic epilepsy

This child has a typical history of benign rolandic epilepsy which accounts for 20% of all childhood epilepsy. 7-10 year olds are the most likely to be affected (but it can be seen from 3-13 years of age) and there is a male preponderance. Rolandic seizures are usually nocturnal involving the mouth and face. They often begin with an odd sensation at the corner of the mouth which leads to twitching of the mouth and then the rest of the ipsilateral face. Excessive salivation, grunting and slurred speech can occr and they can progress to generalised seizures. The EEG often shows high amplitude spikes in the L centrotemporal region. This area of the brain is near the motor strip (the Rolandic fissure, hence the name of the epilepsy). It is a benign condition and children often grow out of it by adolescence).

Juvenile myoclonic epilepsy usually begins around puberty can can be precipitated by alcohol. There are usually severe symmertical jerks of teh arms and trunk, which can proceed to generalised fits. They often occur in the morning on waking.
Lennox-Gastaut type epilepsy is rare and presents between 1-4 y. Features include daily seizures, episodes of status epilepticus, slowed psychomotor development and behavioural disorders. It has a poor prognosis. The EEG shows slow spike waves with multiple abnormalities.

45

A 13 year old boy has been unwell for a number of days with a sore throat. 3 days after the onset of the illness he developed a widespread rash over his torso and proximal extremities. The rash is made up of numerous scaly papules, each 0.5-2cm in size. O/E of his oropharynx you note bilaterally inflamed tonsils with exudates.

A Atopic eczema
B Measles
C Meningococcal sepsis
D Psoriasis
E Scarlet fever

Psoriasis
Guttate psoriasis occurs almost exclusively in children and young adults. The lesions found are 0.5-2cm oval scaling red papules and small plaques. The lesions are numerous and distributed over the torso and proximal extremities. Guttate psoriasis is often preceded by streptococcal infections. The possibility of concurrent streptococcal infection should be investigated in any new cases of guttate psoriasis.
Scarlet fever also presents with a rash after a group A B-haemolytic streptococcal infection. In scarlet fever the rash occurs 12-24 hours after the onset of the illness and is a fine diffuse erythematous maculopapular rash that has the texture of goose flesh. Other features include a strawberry tongue, desquamation of the rash after 2-3 days (especially the palms and soles) and lymphadenopathy.

46

APGAR =

Score calculate on 1st and 5th minute of life. Each criterion is scored 0,1 or 2. (7 normal)

Appearance (colour): blue -> pink + blue -> pink
Pulse: >100
Grimace: No response -> Feeble -> Good cough/cry
Activity (tone): Limp -> diminished -> normal
Respiratory effort: None -> weak/irregular -> good

47

Syndrome spot diagnosis: Short stature + excess weight gain + delayed puberty + infertility + learning disability

Prader-Willi syndrome

48

Syndrome spot diagnosis: Short stature + low set ears + wide set eyes + growth retardation + scoliosis + learning disability + heart defects

Noonan's syndrome

49

Syndrome spot diagnosis: Short stature + triangular shaped face + clinodactyly + precocious puberty + body asymmetry

Russell-Silver syndrome

50

Syndrome spot diagnosis: short stature with normal trunk but short limbs

Achondroplasia

51

Syndrome spot diagnosis: short stature + shortened trunk with normal limbs

Spondyloepiphyseal dysplasia

52

An 8 year old child is undergoing a routine operation. At pre-assessment she appears well but slightly pale. Examination is unremarkable. Her blood film reveals a microcytic, hypo chromic anaemia and Hb electrophoresis shows increased HbA2 and HbF. No HbH is seen.

A a-Thalassemia trait
B B-Thalassemia major
C B-Thalassemia trait
D IDA
E Sickle cell anaemia

B-Thalassemia trait

Microcytic hypochromic anaemia is seen in both thalassemias and IDA.Normal Hb is composed of a tetramer of globin chains (2 a global and 2 non-a-globing chains). In the foetus the 2 a chains pair up with 2 gamma chains to produce HbF. In adults the majority of Hb is HbA (2 a chains + 2 B chains). About 2% of adult Hb is HbA2 (2 a chains and 2 delta chains). About 1% of adult Hb is in the foetal form HbF.
B-thalassemia trait major is an AutoR disorder in which there is a complete lack of production of Hb chain B-globin. It occurs mainly in Med and Middle Eastern families and is due to a point mutation on Ch11. Because patients with B-thalassemia major have mutations on both alleles and cannot synthesise any B-globin, they cannot produce functioning adult HbA. This condition typically presents within the 1st year of life when the production of HbF begins to fall. Affected children become generally unwell and fail to thrive secondary to a severe microcytic anaemia. Ferritin levels are normal since there is no iron deficiency. A compensatory increase in the synthesis of HbF and HbA2 occurs which can be detected on serum electrophoresis.
B thalassemia minor describes people heterozygous for B chain chromosomal mutation. Affected persons have only a mild hypo chromic, microcytic anaemia and are usually asymptomatic. Again Fe and ferritin levels are normal and Hb electrophoresis shows an elevated an HbA2 and HbF.
a-Thalassemia is common in SE Asia. There are 4 alpha genes and 4 variants of a-thalassemia. 1 gene corruption = asymptomatic; 2 genes = mild hypo chromic anaemia; 3 genes = HbH disease;4 genes = death in utero {Hb Barts}.

53

A 3 year old boy has been followed up by the paediatricians due to poor language skills and delayed social development. He also displays ritualistic behaviour. It is thought he may have autism. Which is true regarding autism?

A Aetiology is well described
B Affects girls more commonly than boys
C Language skills do not help predict long-term function
D Presents before the age of 3
E There is no increased risk of autistic disorders in siblings.

Presents before the age of 3.

Clinical manifestations of autism should be present by 3 years of age. If the delay occur later than this, then a different developmental disorder should be considered.

- The aetiology is unknown
- It affects boys more than girls
- Language skills and IQ are the best predictors of long term function
- Increased risk of autistic disorders in siblings.

54

A mother brings her 6 week old baby boy to the GP as she is worried he is vomiting. He weighs 4.6kg and is bottle-fed. He is taking 4 oz (120ml) every 4 hours but vomits after nearly every bottle. The vomiting is occasionally projectile. Baby is not taking his feeds well and is crying excessively. examination is unremarkable and he displays normal growth.

A Colic
B Gastro-oesophageal reflux
C Normal variant
D Overfeeding
E Pyloric stenosis

Gastro-oesophageal reflux (GOR)

GOR is extremely common in infants, partly as their lower oesophageal sphincter is not competent. Babies with reflux often present with difficult feeding. They can appear to be in pain (arching their back and crying) during or soon after a feed. While parents may describe the vomiting as 'projectile' it is technically regurgitation as the stomach contents are emptied effortlessly. An exact description from parents or observation of the vomiting is helpful in the diagnosis. More severe symptoms of GOR include apnoeic episodes, aspiration, FTT, and a chronic cough or wheeze.

GOR is confirmed by measuring the lower oesophageal pH over a 24 hours period. A pH

55

A 15 year old girl was recently started on the OCP. A few weeks later she presented with a UTI, which was successfully treated with trimethoprim. Now, a month later, she has developed a cold sore which is associated with multiple skin lesions over her lower limbs. The lesions are round and deep red with a central area of pallor.

Which of the following is the cause of the rash?

A Echovirus
B E.coli
C HSV
D OCP
E Sulphonamide antibiotic

HSV

This child has erythema multiforme (EM) most likely caused by HSV. All of the listed options are causes of EM except the OCP which causes erythema nodosum. Trimethoprim is commonly used to treat UTIs. It is commonly used in conjunction with sulphonamides in the form of co-trimoxazole. EM presents with characteristic target lesions (1-3cm oval or round, deep red, well-demarcated, flat macules), though it may also present with macules, papules, wheals, vesicles and bullae.

Steven-Johnson syndrome is a severe form of EM with mucosal bullae in the mouth, anogenital region and conjunctiva. Treatment is based on identifying and treating the underlying cause and providing symptomatic support. Steroids are given in severe cases. Most cases in children are caused by HSV. HSV DNA is detected in approx 80% of cases.

56

You are referred a girl from primary care as the parents are worried she is the shortest in her class. She enjoys school and is doing well. O/E you find her height to be below the 2nd lentil and her weight to be on the 50th centile. She is 15 years old and has developed some pubic hair but still has little breast tissue and has not started her periods yet, though mum tells you she was a late developer. You also notice slightly low set ears and a lowish hairline. She otherwise looks normal and has a normal examination.

A Congenital hypothyroidism
B Klinefelter's syndrome
C Noonan syndrome
D Normal
E Turner syndrome

Turner syndrome

This girl has Turner syndrome, one of the most common chromosomal disorders. It is due to the absence of an X chromosome or the presence of an abnormal X chromosome - 45XO.

Features of Turner syndrome
- neck webbing
- a low hairline
- shield-shaped chest
- widely spaced nipples
- wide carrying angle (arm turns out at the elbow)
- Low set ears in 80%
- Lymphoedema of hands and feet in the neonatal period
- Normal intelligence, though often have problems with spatial temporal processing.

As with most syndromes, features are variable and not always present. However, nearly all girls with Turner syndrome have slow growth and early ovarian failure. Kidney abnormalities, coarctation of the aorta, dissection of the aorta, bicuspid aortic valve, otitis media and AI thyroiditis are all seen in increased frequency in girls with Turner syndrome.

Turner syndrome is often not diagnosed until adolescence when the girls fails to go through puberty. Premature ovarian failure occurs and there are usually characteristic 'streak' gonads instead of functioning ovaries. Adrenarche, the beginning of pubic and axilla hair growth, usually occurs at a normal age as as this is not under the influence of oestrogen. Breast development and menstruation do not occur except in a small minority. Infertility is almost universal. The structure of the uterus, vagina and external genitalia is normal and pregnancy with a donor egg is possible.

However Noonan syndrome can affect boys and girls and is associated with mental retardation and pulmonary stenosis. Children with Noonan syndrome have characteristic dysmorphic facies - wide space eyes, epicanthic folds, low set ears.

57

A 10 year old boy has recently been diagnosed with T1DM. He wants to discuss the type of treatment regimen which would best suit him. He does not particularly like giving the injections, but has got used to it and would to have as tight a control as possible. However, he is very unwilling to give himself any injections whilst at school as he is embarrassed in front of his friends.

Best suited regimen?

A Diet control alone
B Insulin pump
C Multiple dose insulin regimen
D 3 daily injection insulin regimen
E 2 daily injection insulin regimen

3 daily injection insulin regimen.

A 3-injection regimen would be most suited. This is when long-acting insulin is given at night with mixed insulin given in the morning and rapid acting insulin given at teatime to cover the evening meals. It allows for tighter control than 2 injection insulin and allows the child not to give injections at school.

The traditional 2 injection regimen is used mainly in young children but it is hard to achieve tight control without experiencing hypglycaemia events.

The multiple injection regimen (basal bolus) has become very popular. Whilst with good compliance it allows for tight control with greater flexibility in meal times is requires more frequent injections, including at school.

Insulin pumps achieve optimal control. They are only used in young people when the multiple-dose regimen has failed and where it is felt the patient and family have the commitment and competence to use the therapy effectively. Whilst providing excellent control without hypo episodes the pump needs to be attached at all times and if it gets disconnected DKA can rapidly ensue.

58

A 7 year old boy presents with tonsillitis associated with a painful rash. He has multiple lesions over his shins. They are 1-5cm in size, are raised, tender and hot to touch. He has recently been started on antibiotics for his tonsillitis.

A EBV
B Group A Strep
C Reaction to erythromycin
D SLE
E TB

Group A Strep

The rash described is erythema nodosum, in this case caused by a group A Strep tonsillitis. EN presents with red, nodules or plaques which are symmetrical, tender and hot to touch. They are most commonly found on the shins but may also be found on the thighs, ankles, knees, arms, face and neck. Frequently no cause is found.

59

An 18 month old girl presents with a recurrent cough which is occasionally productive. She is small for her age. Mum reports multiple episodes of wheeze.

What is the gold standard investigation to confirm diagnosis?

A CXR
B Genetic mutation analysis
C Immune reaction trypsin
D Nasal potential difference
E Sweat test

Sweat test

CF is the most common lethal autosomal recessive disease of Caucasians. There is a carrier rate of 1 in 25 leading to the disease affecting approx 1 in 2500 for the UK population.

The gold standard investigation for CF is the sweat test. The abnormal function of sweat land results in an excess concentration of NaCl in sweat. Sweat is stimulated by pilocarpine iontophoresis, collected on filter paper. At least 2 sweat tests should be performed as diagnostic error and false positives are common.

CXR are frequently required in CF to monitor disease progress or during an acute infective episode but would not be diagnostic. Immune-reactive trypsin is now used as a national screening tool on the neonatal Guthrie card. A raised IRT is strongly suggestive of CF but the diagnosis still needs to be confirmed with either genetic mutation analysis or sweat test. Genetic mutation analysis can be used for the pre- or postnatal diagnosis of CF, however not all mutations have been identified. Nasal potential difference is used to measure the voltage across nasal epithelium, which correlates with the transport of Na and Cl across cell membranes.

60

A 5 year old boy is seen in clinic and is found to have an undescended testis on the right side. You are unable to palpate a testis either in the scrotum or inguinal canal. An abdo USS is performed and shows an intraabdominal testis on the right.

Which of the following is a reason to perform an orchidopexy?

A Decrease the risk of direct hernias in later life
B Decrease the risk of epididymitis
C Decrease the risk of malignancy back to that of the normal population
D Psychological benefit
E Significant improvement in fertility.

Psychological benefit

Cryptorchidism is defined as failure of the testis to descend from its intraabdominal location into the scrotum. It leads to complications including psychological distress, decreased fertility and an increased risk of torsion, indirect hernias and malignancies. There is huge psychological benefit from bringing a testicle down into the scrotum and this should not be underestimated as one of the reasons for peforming an orchidopexy.

During orchidopexy the inguinal canal is closed once the testicle has been brought down this decreasing the risk of indirect (rather than direct) hernias.

Infertility is observed in 10% of patients with unilateral and 40% of patients with bilateral cryptorchidism. At least 1 contributing mechanism for reduced spermatogenesis in cryptorchid testes is temperature. Even after orchidopexy, fertility does not improve significantly especially if the orchidopexy is performed after 2.

One of the strongest arguments for early orchidopexy is prevention and early treatment if testicular cancer. There is roughly 4-40x increased risk in men born with undescended testes with the most common tumour being a seminoma. Even after orchidopexy there is an increased risk of malignancy, and this is probably due to an inherent abnormality in the undescended testicle.

61

A 5 year old girl with epilepsy has some routine blood tests taken by the GP. She is currently on phenytoin and has been for a few years. Her mother is worried she is a fussy eater and does not enjoy eating meat. O/E she has some ulceration at the corners of her mouth.

Her FBC reveals:
Hb 8.9g/dL
MCV 109 fL

Best treatment?

A IM B12
B Oral ferrous sulphate
C Oral folic acid
D Oral B12
E Multivitamin tablet

Oral folic acid

This girl has macrocytic anaemia which is most likely due to folate deficiency. Children who are on anticonvulsants, especially phenytoin , can display folate deficiency as a SFx. Clinical features include glossitis (a smooth, beefy red tongue), angular stomatitis, N+V, abdo pain and anorexia. Folate deficiency is easily treated with oral folate supplementation in the form of folic acid. A 4 month course is generally sufficient to replenish body stores. Folate deficiency is also seen during periods of rapid growth such as in infancy, and in malabsorption due to coeliac and IBD.

62

A 7 year old child has absence seizures. She is currently on medication for this which she takes twice a day. Her mother has noticed that she has put on weight recently and wondered if this was a side effect of her epilepsy medication. She also tells you that when her daughter started her medication she started to lose some of her hair, though this has now resoled.

What medication is she on?

A Carbamazepine
B Gabapentin
C Lamotrigine
D Phenytoin
E Sodium valproate

Sodium valproate

NICE guidelines recommend certain drugs in certain seizure types. For children with absence seizures the first line treatment are sodium valproate and lamotrigine.

Na Valproate SFx: transient hair loss, weight gain, liver damage, blood dyscrasias. (Also teratogen resulting in neural tube defects).

Lamotrigine SFx: skin rash, drowsiness, insomnia, agitation.

Carbamazepine and gabapentin can worsen symptoms of absence seizures. Carbamazepine is used in tonic-clonic seizures and focal seizures.

Carbamazepine SFx: allergic skin reaction, blurred vision, ataxia, nausea Hepatic enzyme inducer (think about other meds and OCP).

Phenytoin is no longer first line. SFx: gum hyperplasia, hirsutism, coarsening of facial features, ataxia, slurred speech.

63

A 9 year old girl presents to GP with red urine. She is complaining of some abdo pain but is otherwise well. She has a history of recurrent UTIs and she recently had a throat infection which was treated for 3 days wit oral penicillin. Examination is unremarkable.

A urine dipstick reveals:
Blood 3+
Leucocytes negative
Nitrites negative

Which investigation would best reveal the cause of her haematuria?

A AXR and USS
B ASOT/throat swab
C FBC
D Serum complement C3
E Urine MCS

ASOT/throat swab

Acute glomerulonephritis can cause haematuria. This is caused by damage to the glomerulus secondary to immune-related process. It is relatively rare in the UK but the most common form occurs after streptococcal infection (typically 2 weeks after a throat or skin infection). An ASOT and throat swav are useful to establish if there has been a recent strep infection.

AXR and USS is useful for investigation renal stones in the presence of severe, colicky pain.

Serum complement are sometimes low, particularly in nephrotic syndrome, but this is not a reliable diagnostic test.

Urine MCS would be useful for investigation any UTI.

64

A 10 month old baby presents for the 2nd time to hospital with a UTI. He recovers quickly with a course of Abx. Your consultant asks you to organise follow up for him.

What investigations does this boy need?
A Inpatient renal USS
B Renal USS in 1 week
C USS and DMSA as outpatient
D USS and MCUG as outpatient
E USS, MCUG and DMSA as outpatient.

USS and DMSA as outpatient.

USS is performed to check for structural abnormalities such as obstruction. DMSA is a radiolabelled compound that becomes fixed in functioning proximal renal tubular cells. DMSA is not taken up by scarred, non-functioning renal parenchyma. MCUG is performed to demonstrate the presence of vesicoureteric reflux.

Recommendations:
3y - No Ix if simple. Atypical then inpatient USS. Recurrent the outpatient USS with 6/12 DMSA.

65

You review a 2 year old boy in clinic. He had a neural tube defect when he was born which was operated on soon after birth. His mother describes a sac of jelly at the base of the spine. O/E today he has a full ROM of both his arms and legs and his power, tone and reflexes appear normal. He is still in nappies but his mother is beginning to toilet train.

What was the neural tube lesion?

A Anencephaly
B Encephalocele
C Meningocele
D Myelomeningocele
E Spina bifida occulta

Meningocele.

This patient is likely to have had a meningocele - an exposed sac of meninges. The spinal cord remains intact and functions normally and thus the child's neurology is normal. The sac can rupture and there is an increased risk of developing meningitis and hydrocephalus. Surgical corection is always necessary and long term follow up is needed as neurological problems may develop as the child grows.

In a myelomeningocele, a meningeal sac herniates through a defect in the lower vertebrae and contains elements of the spinal cord and lumbosacral roots. 80% arein the lumbrosacral region. Neurological deficits range from minimal bladder dysfunction, mobility and intellectual problems in small defects to loss of limb function, anaesthesia and double incontinence.

Spina bifida occulta occurs when the posterior vertebral bodies fail to fuse. Tethering of the cord can occur with growth and is associated with neurological dysfunction. There can be weakness of the legs with spasticity and abnormal gait. There can also be sensory and autonomic abnormalities. There is no sac present but there may be cutaneous markers over the area including tufts of hair, a sinus or port wine stain. Diagnosis can be made on USS below the age of 2 or ideally MRI.

66

A 7 year old boy with a history of hypothyroidism presents with a limp. Mum has noticed the limp over the last few weeks and it seems to come and go. He is also complaining of pain in his left leg. He is generally well on exam but has limited ROM of the left hip. A Xray reveals he has Perthes disease.

This boy is more likely to have Perthes' than SUFE because:

A He is a boy
B He is hypothyroid
C He is obese
D He is tall
E He is 7 years old

He is 7 years old.

Perthes disease is idiopathic avascular necrosis of the femoral head, which is followed by revascularisation and re-ossification over a period of 2-3 years. It usually occurs between 5-10 year olds and is 5x more common in boys. Bilateral in 10%. Can present with fixed flexion deformity in contralateral leg to compensate for the lost in height. Xray will show a collapsed, irregular, sclerotic femoral head with an increased joint space. Treatment depends on severity. Mild - conservative bed rest, analgesia and monitoring. Abduction bracing/splinting; femoral osteotomy. Prognosis is worse in older girls with more involvement of the femoral head.

Slipped upper femoral epiphysis describes posteriolateral displacement of the femoral head through the growth plate. Occurs more commonly in boys. Mainly in 10-15 year olds during the growth spurt. Obesity, microgenitalia, hypothyroid and tall stature are RFs. 20% bilateral. Manage by pinning of the epiphysis. Complications include premature epiphyseal fusion and AVN.

67

An 8 year boy presents with abdo pain in the lower right part of his tummy. He has had a cold for the last 3 days. O/E he is slightly tender in the R iliac fossa but he has no guarding or signs of peritonism. His temperature is 37.9C. A urine dipstick reveals: leucocytes 1+ , nitrites negative, blood negative.

Most likely cause of abdo pain?

A Appendicitis
B Constipation
C Mesenteric adenitis
D Pneumonia
E UTI

Mesenteric adenitis

Mesenteric adenitis describes inflammation of the intra-abdominal LNs. It is usually associated with, or follows, an UTI or gastroenteritis. It often mimics appendicitis and commonly presents with RIF pain. Features that may be helpful in distinguishing the two are a high grade fever (>38.5c), shifting tenderness, lack of rebound tenderness and absence of anorexia in mesenteric adenitis. It is a diagnosis of exclusion.

68

You see a boy in clinic and are asked to perform a developmental assessment. He can walk well and even runs but is not able to kick a ball. He can create a tower of 3 blocks, scribbles, though cannot copy a straight line. He uses nearly 10 words but is not putting them together. He is able to feed himself with a spoon but not able to use a fork. His mother tells you he is always copying her when she does the housework.

Developmental age?

A 12 months
B 15 months
C 18 months
D 2 years
E 2 1/2 years

18 months

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Hs and Ts of reversible emergency condition

Hypoxia
Hypovolemia
Hypoglycaemia
Hypo/hyperkalemia
Hypothermia
H+ excess (acidosis)

Toxins
Tamponade
Tension pneumothorax
Thrombosis - PE + MI

70

Laron syndrome

Defective GH receptors result in short stature.

High GH levels, low downstream IGF-1

71

An infant with hypercyanotic episodes on squatting. Has a load harsh ejection systolic murmur at left sternal edge. CXR shows a boot shaped heart.

Tetralogy of fallot.

VSD
Overriding aorta
Pulmonary stenosis
RVH

72

Sudden cyanosis day 3 of life. CXR shows narrowed upper mediastinum with 'egg on side' appearance.

Transposition of the great arteries