Paediatrics Flashcards

(513 cards)

1
Q

What is the difference between the median age and limit age?

A

median age is the age when half the standard population of children have reached a milestone

Limit age is the max-age a child should have achieved a milestone by

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2
Q

2 methods of screening hearing in newborns?

A

Evoked Otoacoustic Emission

Automated Auditory Brainstem Response (EEG)

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3
Q

Moro reflex?

A

sudden extension of the neck causes symmetrical extension then flexion of the arms

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4
Q

Recoil reflex?

A

Flexion then sudden extension causes instant flexion again

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5
Q

Grasp reflex?

A

When an object is placed in their hand they flex fingers

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6
Q

Rooting reflex?

A

Head turns to stimulus when touched near the mouth

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7
Q

Asymmetrical tonic neck reflex?

A

Lying supine, infant adopts an outstretched arm to the side which the head is turned

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8
Q

Gallant reflex?

A

when suspended face down, rub the side on the back and the lower extremity should move to that side

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9
Q

Dolls eye reflex?

A

When head is turned, the eyes move in the opposite direction?

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10
Q

Labarythine righting?

A

When body is tilted the head moves in the opposite direction

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11
Q

Postural support?

A

When held upright, legs take weight and push up (Bounce)

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12
Q

Lateral propping?

A

When sitting, the arm extends on the side the child is falling

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13
Q

Parachute reflex?

A

when suspended face down, the arms extend as though to save themselves

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14
Q

Landau reflex?

A

when suspended in prone, when head comes up so do the legs and when head comes down so do the legs

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15
Q

Cerebral palsy?

A

Non-progressive movement and posture disorder caused by brain injury in the first 2 years of life

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16
Q

Types of cerebral palsy and location of damage?

A

Spastic - UMN pyramidal and corticospinal tracts

Dyskinetic - Basal ganglia

Ataxic (Hypotonic) - cerebellum

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17
Q

2 main causes of cerebral palsy?

A

Hypoxic-ischaemic brain injury
Hyperbilirubinaemia

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18
Q

How would a patient with a hemiplegic cerebral palsy present?

A

Unilateral spasticity + brisk reflexes
Face sparing
Fisted hand, Flexed arm + Asymmetrical reaching out between 4 to 12 months

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19
Q

Opisthontos?

A

Spasm of muscle of head, neck, back + spine causing poor head control

Quadriplegic spastic cerebral palsy

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20
Q

Risk factors for autism?

A

Affected sibling
Gestational age <35 weeks
Parental schizophrenia
Birth defect affecting nervous system
LD
Downs
Male

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21
Q

Examples of AD?

A

Ehlers-Danlos syndrome
Familial Hypercholesterolaemia
Familial adenomatous polyposis
Huntington’s disease
Marfan
Osteogenesis Imperfecta
Neurofibromatosis
Noonan syndrome

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22
Q

Examples of AR?

A

Congenital adrenal hyperplasia
Cystic fibrosis
Friedreich Ataxia
Sickle cell
Thalassaemia

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23
Q

What is the difference between penetrance and expressivity?

A

The proportion of people carrying an allele that also exhibit clinical signs

Expressivity - the difference observed in the clinical phenotype between 2 individuals with the same genotype

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24
Q

Anticipation?

A

When the disease presents at an earlier age and more severe in successive generations

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25
What is uniparental disomy and examples of such conditions?
When a child inherits 2 copies of a chromosome from 1 parent and non from the other Angelmann + Prader Willi syndrome
26
Robertsonian translocation in Downs occurs between which 2 chromosomes?
14 + 21
27
Ways that trisomy 21 occur?
Mosaisim Meiotic non-disjunction Robertsonian translocaiton between chromosome 14 + 21
28
Craniofacial features of Down's syndrome?
Flat occiput Flat nose bridge Up slanted palpebral fissue Small mouth Protruding tongue Small ears
29
Non-craniofacial features of Down's syndrome?
Wide sandal grip Incurved fifth finger Hypotonia Short neck
30
What is atlantoaxial instability?
fewer stable bones of the upper neck + base of skull so more at risk of nerve damage
31
When is the scan done to detect Down, Edwards + Pataeu and what factors are considered?
10 to 14 week scan Nuchal Translucency Beta hCG PAPPA
32
More specific diagnostic investigation of Down's syndrome?
Amniocentesis + Karyotyping
33
Features of Edwards syndrome?
Prominent occiput Small mouth and chin Short sternum Flexed overlapping fingers Rocker bottom feet (congenital vertical talus) Cardiac + renal malformations
34
Features of Patau syndrome?
Structural defects of brain Scalp defects Small eyes Cleft lip + palate Polydactyly Cardiac + renal malformations
35
Klinefelter syndrome?
47XXY Hypogonadism, reduced fertility + being taller than expected, Gynaecomastia
36
Investigations of Klinefelters syndrome?
Karyotyping, Testosterone, Sperm Count
37
Most common cause familial learning difficulties?
Fragile X syndrome
38
Fragile X syndrome?
Gap/break in the distal part of the long arm of the X chromosome or \>200 trinucleotide repeats
39
Trinucleotide repeat seen in fragile X syndrome?
\>200 CGG
40
Turners syndrome?
45X0
41
Clinical features of turners syndrome?
Short stature, Premature ovarian failure, Wide space nipples, Neck webbing, Recurrent otitis media
42
Neonatal signs of turners syndrome?
Lymphoedema of the neck, hands or feet
43
Management of turners syndrome?
GH Oestrogen replacement to develop secondary sex characteristics
44
What is the difference between Duchene + Becker's muscular dystrophy?
Duchese in no dystrophyin protein + Becker is misshapen dystrophin making it less severe
45
Mode of the inheritance of muscular dystrophy?
X linked recessive deletion/duplication on the gene that codes for dystrophin protein
46
Clinical features of muscular dystrophy?
Delayed walking Waddling gait Calf pseudohypertrophy Gower's sign
47
Complications of muscular dystrophy?
Wheelchair-bound Resp failure Scoliosis Dilated cardiomyopathy Arrhythmia
48
Diagnosis of muscular dystrophy?
High Creatine Kinase Dystrophin mutation (DNA or western blot) Muscle biopsy + stain for dystrophin
49
What causes calf pseudohypertrophy?
Cell death of the muscle due to lack of dystrophin Short term regeneration of muscle fibres of different sizes + long term muscle atrophy Fat + fibrotic tissue instead of muscle
50
Classification of mobility in cerebral palsy?
Gross motor function classification system
51
What chromosome is mutated in the conditions Angelmanns syndrome and Prader Willi?
Chromosome 15
52
Clinical features of Angelmann syndrome?
Happy puppet Inappropriate laughter Unstable ataxic gait Jerky movements Microencephaly Decreased need for sleep Feeding difficulties
53
Clinical features of Prader Willi syndrome?
Hypotonia + poor feeding in infancy Overeating, hypogonadism + LD in childhood
54
Noonan syndrome? 4 HIPA 4
4 Major: Short stature, Triangular face, Neck webbing Pectus excavum Hypertrophic Cardiomyopathy, Infundibular pulmonic stenosis, Pulmonary hypertension, ASD 4 minor: Bleeding disorder, Downward slanting of palpebral fissures, Squint, AD
55
Syndrome associated with transient neonatal hypercalcaemia?
William syndrome
56
Mechanism of mutation of Williams syndrome?
Spontaneous deletion of 26 to 28 genes on chromosome 7
57
Clinical features of Williams syndrome?
Developmental delay Growth delay full cheeks Large mouth usually held open Broad nasal bridge with nostrils flaring forward Underdeveloped teeth
58
Examples of genetic conditions that exhibit anticipation?
Myotonic dystrophy Huntington's
59
Mode of inheritance of Haemophilia A?
X linked recessive No father to son transmission Daughter will be a carrier
60
Examples of X linked recessive conditions?
Haemophilia A G6PD deficiency
61
In what situation can a female patient be affected by an X linked recessive mutation?
Turners syndrome 45X0
62
X linked Recessive?
Inherited from heterozygous mothers No male to male transmission Assuming Het mother + normal father - all male have 50% of being affected and all females have a 50% of being carriers
63
When a condition is only passed on by females but when it affects a son, they can no longer pass on the mutation. what kind of inheritance is described?
Mitochondrial inheritance
64
CF mode of transmission?
AR deletion ٨F508 resulting in a misfolded Cystic Fibrosis Transmembrane Conductdance Regulator
65
What causes the negative transepithelial potential difference seen in cystic fibrosis?
CFTR gene not effective is mucus producing cells so increased intracellular Chloride ions Compensatory influx of sodium causes a overall native charge on the outside of the membrane
66
What condition is seen a new born with CF?
Meconium ileus (Gastrografin)
67
CF effects on the pancreas?
Avitaminosis A - squamous metaplasia of epithelial lining of pancreatic exocrine ducts - digests it;self resulting in pancreatitis + insulin dependant DM Steatorrhoea
68
The causative organism of recurrent pneumonia in children with CF?
Staphy A
69
The causative organism of recurrent pneumonia in teens/adults with CF?
Pseduomonas Aruginosa
70
What organism can cause a CF exacerbation that can lead to resp failure + death?
Aspergillus fumigatus
71
CF effects on the liver?
``` Small billiary duct obstruction Biliary Cirrhosis (Stellate cells) ```
72
Metabolic complications of CF?
Hypokalaemia Contraction Alkalosis - Alkalosis associated with hypovolaemia
73
How does CF cause subfertility/Infertility in adults?
Femlae - cervical mucus too thick for sperm to penetrate Male - Absent vas deferens
74
4 ways of diagnosing CF?
Heel prick - Immunoreacitve trypsinogen Nasal negative transepithelial potential difference DNA CFTR gene mutation Pilocarpine induced sweat test - excess chloride ions
75
2 mucolytics used to manage CF?
Nebulized N-acetylcysteine - Cleaves disulphide bonds in mucus glycoproteins Dornase - Cuts up nucleic acid
76
Management of CF?
Chest physio Bronchodilators (Albuterol or theophylline or anticholinergics) Mucolytics Anti-inflammaotry Antibiotics O2 CFTR modulators (Cafotr family)
77
LBW, VLBW, EXLBW?
\<2.5Kg \<1.5Kg \<1Kg
78
Indications for 5milligrams of folic acid during pregnancy?
BMI \>30 Previous NTD Antiepileptics Coeliac Sickle cell Methotrexate on alternate days
79
What is included in the routine infection screen?
HIV Hep B Rubella Syphilis
80
What can be given if a fetus has supraventricular tachycardia?
Digoxin or Flecainide
81
Effect of anticonvulsants on fetus?
Midfacial hypoplasia CNS, Limb + Cardiac malformation Developmental delay
82
Effects of lithium on fetus?
Congenital heart defects - Ebstein anomaly (tricuspid is displaced)
83
Effects of tetracycline on fetus?
Enamel Hypoplasia of the teeth
84
Effects of Thalidomide on fetus?
Limb shortening
85
Effects of Vitamin A on fetus?
Increased risk of spontaneous miscarriage + abnormal face
86
Effects of warfarin on fetus?
Interferes with cartilage formation (Hypoplastic nose + stripped epiphysis) Spontaneous abortion or stillbirth
87
Perinatal infection associated with anaemia + fetal hydrops?
Parvovirus
88
Effect of rubella infection on the fetus?
Deafness, Cardiac malformations + Cataracts
89
The causative organism of neonatal meningitis?
GBS e.g. Strep algalacticae
90
SE of epidural?
Maternal pyrexia Increased risk of instrumental delivery
91
What is the first thing done in neonatal resuscitation?
Dry the baby, remove wet towels + cover then start the clock
92
What is the name of the manoeuvre used to correct developmental dysplasia of the hip?
Ortolani Barlow used to identify then Ortiolani dues to correct
93
What is the recommended compression: ventilation ratio for the newborn?
3:1
94
Recommended regime for Vit K to prevent haemorrhagic disease of newborn?
One off IM injection
95
What is hypoxic-ischaemic encephalopathy?
Tissue injury due to lack of perfusion following a period of asphyxia
96
Some symptoms of hypoxic-ischaemic injury?
Irritability, abnormal tone or movement, impaired feeding, hyperventilation seziures + no response
97
Causes of HIE?
Failure of exchange across placenta Interruption of umbilical flow Inadequate placental perfusion Compromised fetus Failure to breath
98
Medication given to the preterm infant?
Magnesium sulphate 10 day erythromycin Steroids
99
Symptoms of resp distress in infants?
Tachypnoea \>60bpm Nasal flare Grunting Laboured breathing with chest wall recession Cyanosis
100
What can be used to manage preterm apnoea/bradycardia?
Caffeine Phosphodiesterase inhibitor
101
Management of patent ducuts arteriosus?
Neonatal Indomethacin - NSAID that inhibits the synthesis of prostaglandins
102
Management of patent ductus arteriosus?
Neonatal Indomethacin - NSAID that inhibits the synthesis of prostaglandins
103
Where are most brain injuries found?
Germinal matrix above the caudate nucleus
104
What are porencephalic cysts?
When blood has haemorrhaged then gathered into a cyst
105
What is seen in retinopathy of prematurity?
Stevie Wonder - changes in vascular growth + fibrous ridges grow
106
What is bronchopulmonary dysplasia?
When an infant still requires oxygen after 26 weeks due to continuous ventillation Lung damage from pressure + volume trauma
107
What can be seen in the CXR of a neonate with bronchopulmonary dysplasia?
Widespread opacification Cystic changes Destroyed boarders
108
What enzyme is responsible for maintaining enterohepatic circulation?
Beta glucuronidase
109
What enzyme conjugates bilirubin in the liver?
Uridine diphosphatase glucuronyltransferase
110
FRBC lifespan?
70 days
111
Causes of increased haemolysis?
Rhesus disease ABO incompatibility Cephalohematoma (Extravasted blood) G6PD deficiency Sepsis Polycythemia
112
Causes of increased enterohepatic circulation?
Breast feeding jaundice - Poor feeding so the digestive system not fully functioning + dehyadration so no excretion of excess bilirubin Breast milk jaundice - increase beta glucuronidase so more enterohepatic circulation
113
Crigler-Najjar syndrome?
Absent/Low uridine diphospho glucuronosyltransferase so increase unconjugated bilirubin
114
BIND?
Bilirubin Induced Neurological Damage due to bilirubin diffusing over the BBB and attaching to basal ganglia + brainstem nuclei
115
Kernicterus?
Encephalopathy due to bilirubin deposits in the basal ganglia + brainstem nuclei Too much to attach to bilirubin Choreoathetoid cerebral palsy Sensorineural hearing loss Gaze abnormalities Dental enamel dysplasia
116
symptoms of acute bilirubin encephalopathy?
Lethargy, hypotonia + poor suck then develops into hypertonia, high pitched cry, fever + seziures
117
Who are most at risk of transient tachypnoea of newborn?
Preterm + C section
118
Causes of resp distress in term infants
TTN Meconium Aspiration Pneumonia Pneumothorax Milk aspiration Persistent pulmonary hypertension of newborn Diaphragmatic HErnia
119
Management of persistent pulmonary hypertension of newborn?
Nitric Oxide or Sildenafil Magnesium sulphate
120
Herpes simplex effect on newborn?
Hepatica lesions on the skin or eye +/- encephalitis or disseminated disease
121
Effect of toxoplasmosis on fetus?
Retinopathy, Cerebral calcifications or Hydrocephalus
122
Management of toxoplasmosis in newborn?
Pyrimethamine + Sulfadiazine for 1 year
123
Mother 5 weeks till delivery has genital lesions and test +ve for herpes simplex, what is the appropriate management?
C section + Oral Aciclovir 400mg tds IV Aciclovir if PROM or spontaneous delivery
124
In what situation would the Hep B vaccination be given?
If the mother was HBsAg +ve then Hep B vaccine immediately after birth then Hep B immunoglobulin within 24 hours of birth
125
2 causes of neonatal seizures?
Hypoglycaemia + Meningitis
126
Pierre Robinson Sequence?
Underdeveloped jaw + backward displacement of tongue
127
Causes of small bowel obstruction in neonates?
Duodenal atresia Small bowel atresia (jejunm or ileum) Malrotation with volvulus Meconium plug in the lower intestine Meconium ileus pyloric stenosis
128
Causes of large bowel obstruction?
Hirschprung disease - missing myenteric nerve plexus in the rectum and may extend to colon Rectal atresia
129
VACTERL?
Vertebral Anorectal Cardiac Traceho-oesophagal Renal Limb abnormalities
130
When is the fastest period of growth? - Fetal - Infancy - Childhood - Adolescent - Adult
Fetal - 30% of eventual height
131
What is growth during infancy dependent on?
Nutrition and environment
132
What is growth dependant on during childhood?
GH, IGF-1, Environment
133
What is growth dependent on during puberty?
GH, Testosterone + Oestrogen
134
First signs of puberty in males + females?
Male - Increased testicular volume Female - Breast development
135
Short stature?
Height below the second centile
136
Height velocity?
Rate of growth over time
137
Causes of short stature?
Familial, IUGR, Prematurity, Endocrine, Poor nutrition
138
What is Laron syndrome?
Decreased IGF-1 due to decreased GH receptors
139
Investigations that can be used to assess growth?
Standing height subischial height - Sitting height - total height Skeletal survey
140
Causes of tall stature?
Obesity, CAH, Precocious puberty, Marfan, Klinefelter
141
Craniosynostosis?
Premature fusion of the sutures
142
Premature sex development?
showing secondary sex characteristics by 8 in females and 9 in males
143
What is the function of the SRY gene?
AMH + Testosterone + Dihydrotestosterone
144
Causes of disorders of sexual differentiation?
Excessive androgen Androgen insensitivity syndrome Ovotesticular disorder Gonadotrophin insufficiency
145
Ovotesticular disorder?
Some of the cells are XX and some XY so both ovarian and testicular tissue present
146
Pathophysiology of CAH?
AR Decreased cortisol + mineralocorticoid leadds to increased ACTH which stimulates the adrenal medulla to produce androgens
147
Signs of CAH?
Virilisation (clitoral hypertrophy or variable labial folds) Enlarged pigmented scrotum Adrenal crisis Tall stature Muscular build, pubic hair + acne
148
Typical bloods of a patient with CAH?
↓Na ↑K Metabolic acidosis Hypoglycaemia
149
What is the precursor to cortisol that is measured to diagnose CAH?
High 17α-hydroxyprogesterone
150
How may an adrenal crisis present?
Vomiting, weight loss, floppiness, Circulatory collapse
151
Features of Marfan?
Tall stature Arahcnodactyl Pectus excavum Pes planus Scoliosis Cardiac problems Repeated pneumothoraces Upward lens dislocation Dural ectasia - ballooning or widening of the dural sac
152
What is Marfans?
AD connective tissue disorder of the FBN1 gene on chromosome 15 that affects protein fibrillin 1
153
Risk factors for SIDS?
prone sleeping parental smoking bed sharing hyperthermia and head covering prematurity
154
What heart mumur is turners syndrome associated with?
Ejection systolic murmur
155
Shaken baby syndrome triad?
Retinal Haemorrhages + Subdural haematoma + Encephalopathy
156
Cardiac abnormalities seen in patients with turners syndrome?
Coarctation of the aorta or Bicuspid aortic valves
157
Features of maternal alcohol syndrome?
Microcephaly (small head) Short palpebral fissures (small eye opening) Hypoplastic upper lip (thin) Absent philtrum Reduced IQ Variable cardiac abnormalities
158
what is the difference between weight for height and height for age?
weight for height is a measure of wasting and index of acute malnutrition (\<3SD below the mean) Height for age measures stunting an is an index for chronic malnutrition
159
What is the difference between Marasumus + Kwashiorkor?
Marasmus - weight for height \<3SD below the mean + significant protein/carb malnutrition leading to wasting, apathy + significant weight loss Kwashiorkor - Severe protein deficiency that causes fluid retention, protruding abdomen + wasting
160
Signs of kwashiorkor?
Flaky desquamated skin Distended abdomen Hepatomegaly (Fatty infiltration) Spare + Depigmented hair Diarrhoea, Hypothermia, Bradycardia, Hypotension
161
What is Rickets?
Failure of mineralisation of growing bone or osteoid tissue
162
Signs of Rickets?
Craniotabes Rachitic Rosary Harrison Sulcus Pectus Carinatum (pigeon chest) Bowed legs
163
MOA of orlistat and what it is used for?
Childhood obesity - it is a lipase inhibitor that reduces the absorption of fat
164
Fluid deficit calculation?
Deficit X 10 XWeight (Kg)
165
Maintenance doses?
First 10kg = 100ml/kg per day Second 10kg = 50ml/kg per day Remaining weight = 20ml/ kg per day
166
Fluid bolus given?
20ml/kg of 0.9% sodium chloride or can be 10ml/kg
167
Common causes of meningitis in newborns?
GBS, Listeria + E.coli
168
Bacterial causes of meningitis in childhood?
Neisseria Meningitidis Strep Pneumonia Haemophilus Influenzae
169
Viral causes of meningitis?
RSV Enterovirus EBV Adenovirus Mumps
170
Meningitis prophylaxis?
Rifampicin or Ciprofloxacin
171
Management of meningitis?
Ceftriaxone or Cefotaxime
172
Signs of encephalitis?
Insidious altered consciousness, Altered cognition, Unusual behaviour, Fever, Focal neurological signs, Seizures + fever
173
Causative organisms of encephalitis?
HSV, CMV, EBV, Measles, VZV
174
Signs of TSS?
Superantigens causes vomiting, diarrhoea, fever, hypotension, rash resembling sunburn on palms, soles, finger or toes
175
Necrotising fasciitis?
Severe SC infection involving skin down to the fascia and muscle causing large areas of skin to potentially become necrotic
176
Management of impetigo?
Hydrogen peroxide or fusidic acid cream Oral flucloxacillin Highly contagious skin infection common in pre-sensitising skin disease 48 hour after infection or until lesions crust over can they see others
177
What is this?
Impetigo - highly contagious staphy A or GAS infection over pre-existing skin conditions Erythematous macules then become pustular the bullous containing honey coloured crusted lesions
178
What is this?
Nikolsky sign of scalded skin syndrome due to exfoliate staphy toxins
179
4 year old patient presentes with sore throat, fever, headache, fatigue, nasuea, pinpoint sandpaper rash over the trunk + pastia lines. How do you investigate and first line management?
Scarlet fever Phenoxymethylpenicillin for 10 days
180
Causative organism of scarlet fever?
Strep pyogenes
181
Complications of scarlet fever?
Otitis media, Peritonsillar abscess, Rheumatic fever, Post-strep glomerulonehritis
182
complications fo VZV?
Secondary bacterial infections, Encephalitis, Pupura fulminans (skin necrosis + DIC)
183
What is mononucleosis syndrome and guilty culprits?
Enlarged glands, Feverm sore throat + fatigue EBV, CMV
184
What virus is associated with Roseola infantum, fever + febrile convulsions?
HHV 6 + 7
185
Parvovirus clinical syndromes?
Erythema infectiosum (Slapped cheek) + myalgia Aplastic crisis in patients with haemolytic anaemia Fetal anaemia causing hydrops
186
Management of enteroviruses Coxsackir, Echovirs or polio?
Ceftriaxone
187
What can be given to manage measles in immunocompromised patients?
Ribavarin
188
Mumps?
Parotitis, fever, malaise, difficulty eating or swallowing Risk of hearing loss/ meningitis or Encephalitis
189
Clincial features of kawasaki disease?
Fever \>5 days Non-purulent conjunctivitis Red/dry cracked lips Strawberry tongue Cervical lymphadenopathy Peeling fingers + toes
190
What is Kawasaki disease?
A systemic vasculitis that mostly affects 6 months to 4 year olds
191
Biggest complication of Kawasaki disease?
Giant Coronary Artery Aneurysm
192
Management of Kawasaki disease?
IVIG for 10 days High dose asprin
193
TORCH?
Toxoplasmosis, Rubella, CMV, HSV
194
Abx used as prophylaxis against PCP in immunosuppressed patients?
Co-trimoxazole
195
10 year old child went to the farm over summer and developed a dart like rash on their torso. They have muscle and joint pain and a persistent fever. What is the condition and management?
Lyme disease Hard tick Erythema migrans is the dart-like rash on their torso because the child is under 12 then Amoxicillin but if over 12 then Doxycycline
196
SPUR?
Spontaneous, Prolonged, Unusual, Recurrent
197
Common causes of Vomiting in infants?
GORD, Infection, Intolerance, Intestinal obstruction
198
Common causes of vomiting in adolescence?
Gastroenteritis, Infection, Appendicitis, Intestinal obstruction
199
Investigations of GORD in paeds?
24 hour OE pH monitoring 24 hour impedance monitoring - measures acidic and non-acidic reflux in OE Endoscopy + biopsy +/- contrast
200
Management of GORD in paeds?
Thickening agents + Upright posture Ranitidine (H2 receptor antagonist) Omeprazole (PPI) Domperidone (Increases gastric emptying after eating)
201
What is pyloric stenosis?
Hypertrophy of the pyloric muscle causing gastric outlet obstruction around 2 to 7 weeks of age
202
Diagnosis of pyloric stenosis?
Test feed - while baby is being fed examine gastric peristaltic movements across the abdomen (+/- pyloric mass in RUQ or overdisteneded stomach) Bloods - metabolic alkalosis Ultrasound
203
Management of pyloric stenosis?
Correct fluid balance Pyloromyotomy - remove some of the muscle - feed the baby within 6 hours and discharge within 2 days
204
What is infant colic?
Inconsolable crying between 6 weeks to 4 months that is self-limiting Baby draws up their knees and arches their back
205
Management of infant colic?
Self-limiting by 6 months could try hydrolysate formula or gripe water
206
What is non-specific abdo pain?
Abdo pain that resolves within 24 to 48 hours usually associated with URTI or cervical lymphadenopathy
207
Ddx of acute abdo pain?
Appendicitis NSAP Meckel's diverticulum Intussusception Malrotation with volvulus Mesenteric lymphadenitis (larrge mesenteric nodes)
208
What is this condition? Diagnosis? Management?
Intersussception causing obstruction - when proximal bowel invaginates into distal bowel in 3 months to 2 year olds AXR - Distended small bowel and no clear distal colon Rectal air insufflation + IV fluids if in shock
209
Clinical features of intussusception?
3 months to 2 years old **Redcurrant jelly mucus stool** Paroxysmal abdo pain Pallor Drawn up legs Vomit Decreased feeds Palpable sausage-shaped mass
210
Meckel's diverticulum is a remnant of what and how can it be identified?
Vitelline duct - communicated between the yolk sac and midgut of fetus found 2cm IC, \<2%, 2 year olds, 2 types of tissue Technetium scan - shows uptake by gastric mucosa
211
What is Malrotation?
When the small bowel isn't fixed at the duodenojejunal flexure + ileocaecal region so the small bowel is short and prone to volvulus Can cause an obstruction as Ladd bands go over the duodenum to attach the caecum to the retroperitoneum
212
Diagnosis of Malrotation?
Upper GI contrast study or Laparoscopy
213
Causes of recurrent abdo pain?
GI - IBS, constipation, IBD, Coeliac GYNAE - Dysmenorrhoea, Ovarian cysts, PID LIVER/PANCREAS - PAncreatiirs, Hepatitis, Gall stones UT - UTI or obstruction PSYCHOSOCIAL - bullying, abuse
214
IBS symptoms?
Abdo pain worse after eating and made better by opening bowels Explosive loose stool + mucus stool Bloating Feeling of incomplete defecation Or even constipation
215
When would you suspect a child has a duodenal ulcer?
If the pain is waking them up int he middle of the night otherwise uncommon
216
Investigations of H pylori infection?
Gastric antral biopsy Urea breath test H. Pylori stool antigen test
217
Management of H.pylori infection?
O, C + A/M
218
Common causes of gastroenteritis and key features?
Rotavirus Sever abdo pain - campylobacter Blood, pus +/- fever -shigella or salmonella Rapidly dehydrating diarrhoea - Cholera
219
Signs of dehydration?
220
Management of a dehydrated baby?
Breastfeeding + increased fluid intake Oral rehydration solution (50ml/kg over 4 hours) NG tube IV sodium chloride (bolus, Maintenance or correct deficit)
221
What test can be used to diagnose post gastritis intolerance?
+ve clinitest - non-absorbed sugar in stool
222
Histological features of coeliac?
Crypt hyperplasia, Villous atrophy + intraepithelial lymphocytes
223
Diagnosis of coeliac?
Endoscopic biopsy of small bowel +ve IgA tissue transglutaminase + Endomyseal Antibodies
224
What other conditions are coeliac associated with?
T1DM, Autoimmune thyroid disease, Downs
225
Complications of crohns v complication of UC?
Crohns - strictures, fistulae, Anal tags UC - Toxic megacolon
226
Extra abdominal features of crohns?
Uveitis, Arthalgia, Erythema nodosum (swollen fat under skin)
227
Management of crohns?
Whole protein modular feeds for 6 to 8 weeks Relapse: **Azathioprine, Methotrexate** Mercaptopurine or Infliximab (anti TNF alpha)
228
Management of UC?
**Aminosalicylates** for induction and maintenance Azathioprine +/- low dose corticosteroids to maintain remission
229
Causes of constipation?
GI- Hirshprung, Coeliac, GI dysmotility, Crohns Neuro - Lumbosacaral pathology or spina bifida Endo - hypothyroidism Metabolic - Hypocalcameia
230
Management of constipation
Stool softener - **Movicol** (Polyethylene glycol) which is an osmotic laxative that draws water into the stool Stimulant laxative - **Senna** or **Sodium Picosulphate** Enema Manual evacuation
231
Hirschsprung disease?
Absence of ganglion cells in the distal colon causes obstruction Rectal exam - narrow then stool will come gushing Suction rectal biopsy - shows absence of ganglion cells colostomy - anastamose bowel to anus
232
Common cause of coryza in children?
Rhinovirus, Coronavirus or RSV
233
2 causative organisms of tonsillitis?
GAS + EBV
234
Management of tonsillitis?
Penicillin or Erythromycin Avoid amoxicillin as can cause maculopapular rash if tonsillitis caused by EBV
235
Causative organism of croup?
Parainfluenza virus
236
Causative organism of bacterial tracheitis/ pseudomembranous croup and how it differs from normal croup?
Staphy A Thicker mucus + High fever
237
Causative organism of epiglottis?
Haemophilus Influenza type B
238
How dose croup differ from epiglottis?
Onset - over days v over hours Preceding coryza - yes Cough - croup more barking v no Able to drink? - yes v no Drooling - no v yese Appearance - unwell v toxic/ very ill Fever - \<38.5 v \>38.5 Stridor - harsh v whispering/ soft Voice - Hoarse v muffled
239
3 stages of bronchitis and their causative organism?
Catarrhal Paroxysmal Convalescent
240
Complications of bronchitis?
Vomiting, Epistaxis, Sunconjunctival haemorrhages, Pneumonia, Convulsions, Bronchiectasis
241
Management of bronchitis?
Erythromycin for 10 days and prophylaxis for close contacts
242
Causative organism of bronchiolitis and it's symptoms?
RSV Protruding sternum, hyperinflated chest, displaced liver, sharp dry cough, cyanosis
243
Age range most hit by bronchiolitis and prophylaxis that can be given?
1 to 9 months, rare in over 1 year Palivizumab
244
Causative organisms of pneumonia in newborn?
GAS, Enterococci, Infection from mothers genital tract
245
Causative organism of pneumonia in infancy?
RSV, Strep pneumonia, HI, Staphy A, Chalmydia
246
Clinical features of pneumonia in children?
Cough, Dyspnoea, Irritability, Nasal flare, Grunting, Chest recession, Lethargy, Malaise, Decreased feeding
247
Ddx of wheeze?
TEW, Atopic asthma, Non-atopic asthma, Anaphyalxis, Aspiration of foreign body, congenital lung defects
248
Signs of asthma?
Wheeze (Whistle when the child breathes out), Worse at night and early morning, Interval symptoms, +ve response to bronchodilators, Fx of atopy
249
How does the second line management of asthma change between \>5 and \<5?
\<5 - LTRA \>5 Low dose ICS
250
Management of meconium ileus?
Gastrografin enema or surgery
251
Pancreatic symptoms seen in CF?
Staetorrhoea or Avitaminosis A
252
CF effects on the liver?
Small biliary obstruction or Biliary Cirrhosis
253
What conditions are associated with primary ciliary dyskinesia?
Dextrocardia or Situs Invertus
254
Aside from obesity, what are other causes of OSA in children?
Adenotosillar hypertrophy, Craniofacial abnormalities, Achondroplasia, Neuromuscular disease
255
Left to right shunting causes?
ASD, VSD, Partial AVSD
256
Right to left shunting?
ToF Transposition of great arteries
257
Outflow obstruction + asymptomatic well child?
Pulmonary stenosis or Aortic stenosis
258
Mixed breathless and blue?
Complete AVSD
259
Symptoms of heart failure in infants?
Breathlessness, Sweating, Poor feeding, Recurrent chest infections Faltering growth, Tachypnoea, Tachycardia, Enlarged heart, Peripheral oedema, Cool peripheries
260
Causes of Left heart obstruction in neonates?
Hypoplastic LH syndrome (narrow aorta) AV stenosis Coarctation of aorta (arterial duct around and collaterals form) Interruption of the aortic arch
261
Continuous diastolic murmur beneath the clavicle + collapsing pulse + pulmonary hypertension +/- HF?
PDA Failure to close after 1 month
262
Tof?
Overriding aorta RV outflow obstruction/ Pu;moanry stenosis RV hypertrophy VSD
263
ToF clinical features?
Cyanosis + O2 sats \<94% in first weeks of life Hypercyanotic spells Clubbing on fingers and toes Large harsh systolic ejection murmur at the left sternal edge
264
What is transposition of great arteries?
Aorta connected to right ventricle and pulmonary artery connected to left ventricle Cyanosis + large second heart sounds Narrow upper mediastinum + increased pulmonary flow Prostaglandin infusion or balloon septostomy - tearing the foramen ovale open allowing the mixture of blood
265
What test is used to determine the presence of heart disease in a cyanosed neonate?
Hyperoxia nitrogen washout test placed in headbox/ 100% O2 ventilator for 10 mins then if PaO2 remains low then congenital heart disease is diagnosed After excluding persistent pulmonary hypertension + chronic lung disease ABC + prostaglandin infusion
266
Complete AVSD?
Hole in the middle of the heart resulting in 5 leaflet valve between atria and ventricles Cyanosis + breathlessness 2 to 3 weeks of life Diuretics + Captopril + surgery
267
The difference in clinical features between aortic stenosis + pulmonary stenosis?
AS - ejection systolic murmur heard at right upper sternal edge, carotid thrill, slow rising pulse PS - ejection systolic murmur heard at left upper sternal edge, heave
268
Out of the following 3 options of outflow obstruction in sick infants, which causes circulatory collapse,e absent femoral and absent left brachial? 1. Coarctation of aorta 2. Interruption of aortic arch 3. Hypoplastic left heart syndrome
2. Interruption of aortic arch
269
Management of SVT?
CPAP, Vagal Stimulation, Adenosine or DC cardioversion
270
Criteria used for rheumatic fever?
Jones criteria 2 major or 1 major + 2 minor
271
The causative organism of rheumatic fever?
GAS e.g. Strep pyogenes
272
When does rheumatic fever present?
5 to 15 year olds 2 to 6 weeks after pharyngeal infection, arthritis, fever + malaise
273
Major manifestation of rheumatic fever?
Pancarditis, Polyarthritis, Sydenham Chorea, Erythema marginatum, Subcutaneous nodules
274
Minor manifestations of rheumatic fever?
Fever, Polyarthalgia, History of RF, Prolonged PR interval, Raised acute phase reactions
275
Management of rheumatic fever?
Penicillin/ Erythromycin/ Cephalosporin High dose NSAID or aspirin for arthritis Diuretics, ACEi, Digoxin for heart failure Chorea is self-limiting of diazepam
276
What is infective endocarditis and who is at high risk?
Strep viridans Vegetations, fibrin and microorganisms on the valves cause damage High risk are those with congenital heart disease
277
management of infective endocarditis?
6 weeks aminoglycosides + good dental hygiene
278
Management of cardiomyopathy?
Diuretics ACEi Carvedilol
279
How does eGFR change between infancy and 2 years old?
15 to 20ml/min per 1.73m2 **to** 80 to 120ml/min per 1.73m2
280
Methods of assessing renal function?
Urea + Creatinine eGFR Plasma Creatinine ratio Insulin or EDTA - substances freely filtered in glomeruli
281
MAG3 Renogram?
Dynamic scan Renal blood flow by injecting isotope that is excreted from blood into urine and ASSESS URINARY DRAINAGE ( identify obstruction)
282
DMSA scan?
Status scan of renal cortex Looking for functional defects or scars - highly sensitive so best to do 2+ months after UTI
283
Renal ultrasound?
anatomical assessment of kidneys + UT but not function
284
Micturating cystourethrogram?
Contrast inserted into bladder through urethral catheter Detect vesicoureteric reflux + urethral obstruction
285
Renal agenesis?
Absence of both kidneys Severe oligohydramnios + potters syndrome Fetus is compressed - lung hypoplasia, severe talipes, limb deformities Facies - beaked nose, downward slanting eyes, low-set ears
286
Multicystic dysplastic kidney?
Failure of the fusion of the ureteric buds with nephrogenic mesenchyme Large non-functioning fluid-filled cysts with no renal tissue or connection to bladder Causes potters syndrome if bilateral
287
Hypertension + haematuria then progress into renal failure?
ADPKD
288
Difference between ARPKD and ADPKD?
ARPKD - diffuse and bilateral enlargement of the kidneys ADPKD - Separate cysts of varying size between normal renal parenchyma
289
What 2 conditions are caused by the abnormal caudal migration of kidneys during fetal development?
Pelvic kidneys + Horseshoe kidney (fusion of the lower poles of the kidney - increased risk of infection + obstruction)
290
Duplex system of kidneys?
Incomplete fusion of the upper and lower pole of the kidney creates 2 drainage systems from the kidney Lower pole - reflux Upper pole - into urethra, vagina or prolapse into the bladder
291
Prune belly syndrome?
Absent musculature syndrome - no anterior abdominal wall Large bladder, Dilated ureters + Cryptochordism
292
The common sites for urinary tract obstructions to occur?
Pelviureteric junction + Vescioureteric junction + bladder neck (posterior urethral valve)
293
Posterior urethral valves?
Gross vesicoureteric reflux Distended bladder Dilated posterior urethra Posterior urethral valve Bilateral hydronephrosis Antenatal ultrasound or Micturating Cystourethrogram
294
2 methods of investigating urinary obstruction or vesicoureteric reflux in children?
Dynamic MAG3 or Micturating Cystourethrogram
295
Symptoms of UTI in infancy?
Fever, Unsettled, Irritable, Poor feed, Lethargy, Jaundice, Septicaemia, Febrile convulsions, Offensive urine
296
Symptoms of UTI in childhood?
Dysuria, Frequency, Urgency, Vulvitis or Balinits, Febrile convulsions, Loin tenderness, Suprapubic pain, Offensive urine
297
Investigations of UTI?
Urine dipstick + culture (\>10^5/ml of single organism) Ultrasound Static DMCA + MCUG (\<3 months)
298
Causative organisms of UTI?
E.coli
299
What organisms is associated with UTI + struvite stones?
Proteus mirabilis
300
What organism is associated with UTI + Structural abnormality?
Pseduomonas
301
Rfx for UTI?
Infrequent voiding Structural abnormalities Incomplete micturition Obstruction due to loaded bladder by constipation Vesicoureteric reflux Neuropathic baldder
302
Management of UTI?
\<3 months - IV cefotaxime \>3 months + acute pylonephritis - Oral co-amoxiclav or IV cefotaxime LUTI + older child - Oral abx for 3 days
303
UTI prophylaxis?
Trimethoprim (2mg/Kg) Nitrofurantoin or Cephalosporin Other: Ensure complete bladder empty, Regular voiding, Prevent constipation
304
What is daytime enuresis?
Loss of bladder control during the day in 3 to 5 year olds
305
Causes of daytime enuresis?
Lack of attention to bladder sensation Detrusor instability Bladder neck weakness Neuropathic bladder UTI Constipation Ectopic ureter
306
Dry at night then waking up in a pool of urine + female?
Ectopic ureter with the vagina
307
Management of daytime enuresis?
Start chart Enuresis alarm Pelvic floor exercises Treat constipation Oxybutynin - relax etrusor muscle
308
Secondary enuresis?
UTI, Emotional upset, DM
309
What is nephrotic syndrome?
Heavy proteinuria that results in decreased plasma albumin and oedmea
310
Causes of proteinuria?
Orthostatic postural proteinuria Glomerulonephropathy Abnormal glomerular basement membrane Increase GFR Renal mass Hypertension
311
Symptoms of nephrotic syndrome?
Periorbital oedema Lower limb or genital oedema Ascites Breathlessness due to distended abdomen and pleural effusion
312
Features suggesting steroid-sensitive nephrotic syndrome?
Age 1 to 10 No microscopic haematuria Normal BP Normal complement function Normal renal function
313
Management of proteinuria?
60mg/m^2 of prednisolone for 4 weeks then drop to 40 for 4 weeks then should be protein-free within 11 days
314
Complications of nephrotic syndrome?
Hypovolaemia Thrombosis (urinary loss of antithrombin + raised haematocrit creates a hypercoagulable state) Pneumococcus Infection Hypercholesterolaemia
315
Features of acute nephritis?
Haematuria Proteinuria Periorbital oedema Hypertension Decreased urine output Volume overload
316
Causes of acute nephritis?
Henoch-scholein purpura SLE Post strep IgA nephropathy Mesangiocapillary glomerulonephropathy Anti-basement membrane
317
Investigations of post-infectious nephritis?
Culture Raised Antistreptolycin or Anti-DNAse B Low C3 complement 3 to 4 weeks post-infection
318
HSP?
IgA Vasculitis seen in 3 to 10 year olds after a URTI A purpuric rash over butt, legs + arms Haematuria Knee and ankle joint pain and swelling Bloody diarrhoea Self-limiting or NSAIDs
319
commonest familial nephritis?
Alport syndrome - X-linked recessive Male, deaf, ocular defects +/- mama haematuria
320
SLE nephritis?
Anti DNA, ANA, low Complement Haematuria + Proteinuria
321
Paediatric hypertension?
BP \>95th centile for height, age + sex
322
Causes of paediatric hypertension?
**Renal:** Renal parenchymal disease, Renal artery stenosis, PKD, Renal tumours **Coarctation of aorta** **Catecholamine excess:** Phaeochromocytoma or Neuroblastoma **Endocrine**: CAH, Cushings, Hyperthyroidisim **Essential hypertension**
323
Unilateral causes of palpable kidneys?
Mutocystic kidney Obstructed hydronephrosis Renal tumour (Wilms tumour) Renal vein thrombosis
324
Causes of bilateral palpable kidneys?
PKD (AR/AD) Tuberous sclerosis RV thrombosis
325
What is Fanconi syndrome?
Substances that are normally reabsorbed are urinated out due to dysfunction of proximal tubule cells Excess loss of AA, Glucose, Phosphate, Bicarbonate, Sodium, Calcium, Potassium, Urate
326
What kind of acidosis is seen in Fanconi syndrome compared to Bartter syndrome?
Fanconi - Hyperchloraemic metabolic acidosis Bartter syndrome - Hyperkalaemic metabolic acidosis
327
Difference between RTA 1 and RTA 2?
RTA 1 causes metabolic acidosis by decreasing the secretions of hydrogen ions RTA 2 causes metabolic acidosis by decreasing the reabsorption of bicarbonate
328
Prerenal cause of AKI?
Hypovolaemia low excreted sodium as body tries to retain fluid Secondary to burns, sepsis, haemorrhage, gastroenteritis
329
Management of hyperkalaemia?
Calcium gluconate Salbutamol Calcium exchange reisn Glucose + Insulin
330
Hyperphosphatemia management?
Calcium carbonate
331
Causes of renal failure?
Vascular Tubular Glomerular Interstitial
332
Haemolytic uraemic syndrome?
Bloody diarrhoea then AKI + Microangiopathic haemolytic anaemia + Thrombocytopenia Toxins of E.Coli or shigella cause **intravascular thrombogenesis** in the endothelial cells of the kidneys decreasing all the platelets then all the RBC that try come to the rescue get damaged from the shearing forces and turbulence of the small vessels
333
Clinical features of CKD in children?
Anorexia, Lethargy, Polydipsia, Plyuria, Failure to thrice, Renal osteodystrophy causing bony deformities, Hypertension, Proteinuria, Normochromic normocytic anaemia
334
Management of CKD?
Calcium carbonate + decrease phosphate intake Recombinant Erythropoietin Growth hormone Dialysis Kidney Transplant
335
Phimosis?
When the foreskin is too tight to be pulled over the glans penis Non-retractile foreskin
336
Hypospadias?
Where the opening of the urethra is not located at the tip of the penis Don't circumcise and check both testes are palpable Can be Glanular, Coronal, Midshaft or Penoscrotal
337
Blue dot on tesis?
Torsion of the testicular appendix - remnant of paramesonephric duct (mullerian) Tender upper pole Pre-pubertal
338
Ddx for acute scrotum?
Testicular torsion Torsion of appendix testis Idiopathic scrotal oedema
339
Smegma pearl?
Myertiosu penile swelling Collection of sebaceous material and dead skin inside the foreskin above the glands
340
How to differentiate between indirect inguinal hernia + hydrocele?
Can you get above the swelling and can it be illuminated = hydrocele Hydrocele - when fluid trickles down an open processes
341
Ddx for head and neck lumps?
Thyroglossal cyst - stopping as it goes through it's natural descent Branchial fistula External angular dermoid cysts - the skin gets trapped under another bit of skin near the eyebrow
342
2 indications for circumcision?
Phimosis Recurrent Balanoposthitis - redness of the foreskin + discharge (Warm baths + Abx) Recurrent UTI
343
Paraphimosis?
When foreskin can't be put back in normal position after being retracted due to swollen glans
344
Causes of biliary tree obstruction + conjugated \>20 micromol/L in children?
Biliary atresia or Choledochal cyst
345
Symptoms of biliary atresia?
Pale stool + dark urine Failure to thrive Hepatomegaly/ splenomegaly secondary to portal hypertension
346
Investigations of biliary atresia or choledochal cyst?
Ultrasound Radioisotope scan showing the uptake by the liver but not being excreted into bowel then liver biopsy +/- laparotmy If dilated on ultrasound - Cholangiogram
347
What is a choledochal cyst?
Cystic dilatation of the extrahepatic biliary system causing obstruction + elevation of conjugated bilirubin
348
Causes of neonatal hepatitis?
Alpaha 1 AT Galactosaemia Neonatal cholestasis of infancy - give ursodeoxycholic acid Progressive familial Intrahepatic Cholestasis Intrahepatic biliary hypoplasia (Liver, Heart, Skeletal, Renal)
349
Galactosaemia?
Unable to convert galactose to glucose Poor feeding + vomit + jaundice + hepatomegaly + cataracts
350
Which hepatitis has the greatest risk of causing chronic liver disease?
Hep B
351
Which hepatitis is associated with post-transfusion hepatitis and how can it be managed?
Hep C Pegylated interferon + Ribavirin
352
Causes of acute liver disease?
Hep A, B, C non-A to G Paracetamol overdose, Isoniazid, halothene, poisonous mushroom Wilsons disease Autoimmune Reye syndrome
353
Management of acute liver failure?
Dextrose keep BM \>4 Broad spec abx + antifungals Vit k to prevent bleeding Mannitol diuresis - prevent cerebral oedmea
354
Signs of acute liver failure?
Jaundice Encephalopathy Coagulopathy Hypoglycaemia Electrolyte disturbance
355
Reyes syndrome?
Non-inflammatory encephalopathy with microvesicular fatty infiltration of the liver no aspirin to \<12 Medium-chain acyl-CoA in heel prick to ID those at risk
356
Causes of chronic liver disease?
Chronic hepatitis Wilsons disease A1AT CF Neonatal liver disease Bile duct lesions
357
Autoimmune hepatitis?
7 to 10 year old Skin rash, Lupus erythematosus, arthritis, haemolytic anaemia, nephritis Hypergamaglobulinaemia \>20m/L + autoantibodies + low complement Prednisolone + azathioprine
358
Management of wilsons disease?
Penicillamine or Trientine - promote copper excretion Zinc - reduce copper absorption Pyridoxine - prevent peripheral neuropathy
359
Complications of cirrhosis?
OE varieties that can bleed Ascites Spontaneous bacterial peritonitis Encephalopathy
360
ALL symptoms?
Acute Lymphatic Leukaemia 2 to 5 year olds Insidious onset BM infiltration, Malaise, Anorexia, Bone pain, Hepatosplenomegaly, Lymphadenopathy, Headache, Vomiting, Nerve palsy +/- Mediastinal mass
361
ALL Investigations?
FBC - Low Hb, Low Platelets, Leukaemic blast cells CXR - MEdiastinal mass (central lymphadenopathy) Bone marrow biopsy
362
Management of ALL?
Induction - Consolidation + CNS - Interim maintenance - Delayedd Intensification - Continue maintenance Overall management takes about 3 years to enter remission
363
What is remission?
Eradication of leukaemic blast cells + restoration of normal marrow function
364
What can be used to protect the kidneys against the effect of rapid cell lysis?
Allopurinol or Urate oxidase
365
Common location of paeds brain tumours?
Infratentorial
366
Most common type of brain tumour in children?
Astrocytoma (Glioblastoma Multiforme)
367
Signs of brain tumour?
Raised ICP, Focal neurological signs Spinal - Back pain, limb weakness, bladder/bowel sensation altered
368
Investigations of brain tumours?
MRI MR spectroscopy - biological activity of tumour
369
Which lymphoma is more common in adolescence than childhood?
Hodgekin - adolescence Non-hodgkin - Childhood
370
Hodgkin lymphoma sympotms/signs?
Painless lymphadenopathy +/- airway obstruction Normal FBC CXR - mediastinal mass Reed Sternberg cells Radiological assessment of all nodal sites will show uptake by cervical and axillary nodes
371
Symptoms/ signs of non-Hodgkin lymphoma?
B symptoms - fever, weight loss, night sweats, pruritus Head, neck + Abdo - Abdo obstruction or intussusception SVC obstruction
372
Signs of raised ICP in infants?
Vomit, Tense fontanelle, Separating sutures, Increase Head circumference, Head tilt, developmental delay
373
Signs of raised ICP in children?
Headache on waking, Vomit, Personality change, Visual disturbance, Papilloedema
374
Neuroblastoma?
Tumours of the neural crest tissue in the adrenal medulla + sympathetic nervous system \<5 year olds - worse prognosis if developed after 1 year old
375
Symptoms of neuroblastoma?
Abdo mass, Bone pain, Weight loss, Malaise, Limp, Pallor, Hepatomegaly may wrap around major vessels if cross midline
376
What scan can be used to identify neuroblastoma + pheochromocytoma?
MIBG scan
377
Investigations of neuroblastoma?
Increased catecholamines Biopsy of adrenal medulla Bone marrow MIBG
378
Wilms tumour?
Nephroblastoma Embryonal renal tissue \<5 years old **Large abdo mass** found incidentally +/- Abdo pain, haematuria, anaemia, hypertension Ultrasound/ CT/ MRI - intrinsic renal mass altering structure Chemo + delayed nephrectomy
379
commonest form of soft tissue sarcoma in childhood?
Rhabdomyosarcoma
380
Clinical features of soft tissue sarcoma?
Head + neck - most common causing proptosis, nasal obstruction or bloodstained nasal discharge GU - dysuria or urinary obstruction, scrotal mass, blood-stained vaginal discharge
381
Bone tumour most seen in younger children?
Ewig sarcoma
382
Symptoms of bone tumour?
Bone pain + mass but otherwise well
383
Investigations of bone tumours?
X ray - bony lesions Bone scan Chest CT - lung met?
384
Retinoblastoma?
**Malignant tumour of the retinal cells** Hereditary - AD 13 Within 3 years old White pupillary reflex +/- squint MRI Chemo or radio
385
Common liver cancer in children?
Hepatoblastoma
386
Liver tumours
Abdo distension + mass Pain and jaundice rare
387
Alpha feto protein associated with which tumours?
Hepatoblastoma + Germ cell tumour
388
Germ cell tumours?
Primitive germ cells Alpha FP + Beta HCG Malignant - gonads + Benign - Sacrococcygeal
389
Langerhans cell histiocytes?
Abnormal proliferation of histiocytes Disorder of antigen-presenting cells/ Macrophages Bony lesions, Diabetes Insipidus, Seborrhoeic rash, Soft tissue involvement of gums, ears, lungs, liver spleen, lymph nodes + bone marrow
390
Cancers in children \<5?
Neuroblastoma Wilm tumour Retinoblastoma ALL Non-Hodgkin
391
Cancer in school-age children?
ALL Brain tumour
392
Cancer in adolescence?
ALL Hodgkin lymphoma Soft tissue sarcoma
393
Hb levels that indicate anaemia in different age groups?
Neonate \<14g/dl 1 to 12 months \<10g/dl 1 to 12 years \<11g/dl
394
Causes of impaired RBC production?
Red cell aplasia Ineffective erythopoesis
395
4 things that can decrease iron absorption?
Cows milk, Vitamin C, Tannin + high fibre foods
396
Causes of red cell aplasia + how can they be investigated?
Parvovirus B19 Diamond blackfan anaemia - congenital Transient erythroblastopenia of childhood Parvovirus serology + bone marrow aspirate
397
Clinical features of iron deficiency anaemia?
Asymptomatic until Hb \< 6 to 7 g/dl Lethargy, Decreased feeding, Pallor, Pica (eating non-food materials)
398
Management of iron deficiency anaemia?
Diet Sytron or Niferex (don't stain teeth) until Hb normal for 3 months if no helpful - look at malabsorption or chronic blood loss
399
Diagnostic clues to red cell aplasia?
Low reticulocyte count + low Hb Normal bilirubin Negative coombs Absent rec cell precursors in bone marrow
400
What do images A B + C show?
A - spherocytosis B - Sickle cell C- Hypochromic cells seen in thalassaemia
401
David blackfan anaemia?
Congenital mutations in ribosomal protein genes 2 to 3 months short stature + abnormal thumbs Oral steroids + monthly blood transfusions or stem cell transplant
402
What is transient erythroblastopenia of childhood?
Anaemia triggered by a viral infection
403
Causes of haemolytic anaemia?
Red cell membrane disorders G6PD deficiency Haemoglobinopathies
404
Signs of haemolytic anaemia?
Anaemia Hepatomegaly or splenomegaly Increased unconjugated bilirubin Excess urobilinogen
405
Diagnostic clues of haemolysis?
Raised reticulocytes (lilac) Increased unconjugated bilirubin or urinary urobilinogen Blood film shos abnormal appearance Increased Red cell precursors in the bone marrow
406
Hereditary spherocytosis?
Spectrin, Ankyrin or band 3 mutation Red cell loses part of the membrane as it passes through spleen Less deformable then destroyed in the microvasculature of spleen
407
Management of sphreocytosis?
Oral folic acid Splenectomy after 7 Hib, Men C + strep pneumonia vaccine
408
G6PD deficiency?
G6PD - essential for preventing oxidative damage to red cells X linked Neonatal jaundice or triggered by infection, medication, fava beans or naphthalene in moth balls Intravascular haemolysis
409
G6PD drug triggers?
Antimalarials Abx: Co-trimoxazole, Quniolones, Nitrofurantoin Aspirin Naphthalene (moth balls) Fava beans
410
Sickle cell disease pathophysiology?
HbS polymerises within RBC causing them to be rigid in structure = sick shape reduced lifespan and get trapped in microcirculation = blood vessel occlusion + ischaemia of bone or ogan Precipitated by low oxygen, dehydration + cold
411
Clinical manifestation of sickle cell disease?
Anaemia Infections - microinfarction of the spleen (risk of spesis+ hyposplenism) Vasooculssive crisis e.g. ductility's (swelling + pain of hands + feet from vaso-occlusion) can also affect limbs + spine Acute anaemia (haemolytic crisis, aplastic crisis or accumulation of sickled cells in spleen or liver) Priapism (long-lasting erection)
412
Management of acute sickle cell crisis?
Analgesia, Fluids, Abx, O2 Transfusion if Acute chest syndrome, stroke or priapism
413
Management of sickle cell disease?
Vaccinations - Hib, Meningococcal, Pneumococcal Daily penicillin + folic acid Avoid cold, dehydration + hypoxia
414
Management of painful vaso-occlusive crisis or acute chest syndrome?
Hydroxyurea - increase HbF production Bone marrow transplant
415
Neonatal screening test used to confirm sickle cell disease?
Guthrie test - part of heel prick test
416
Difference between BT major and intermedia?
Major - severe + no HbA Intermedia - small amount of HbA +/- large amount s of HbF
417
Clinical features of BT?
Severe anaemia (need repeated BT) Splenomegaly Hepatomegaly Jaundice Failure to thrive Bossing of skull or Maxillary overgrowth
418
Management of BT?
Blood transfusion + iron chelation
419
Alpha thalassemia?
normally 4 alpha genes Barts fetalis - no alpha genes Trait - missing 1 or 2 genes Hb electrophoresis or Hb high performance liquid chromatography
420
Anaemia of newborn?
Rhesus disease ABO incompatibility (Anti A/B/ Kell) G6PD, Spherocytosis Blood loss - haemorrhage/ TT transfusion/ placental abruption
421
Diagnosis of rheusus disease?
Positive direct antiglobulin test (coombs) -ve mama + +ve baby
422
Anaemia of prematurity?
Decreased EPO Decreased RC lifespan Frequent blood sampling Iron/ Folic acid deficiency
423
Aplastic anaemia?
Bone marrow failure Anaemia, Thrombocytopenia, Reduced WCC
424
Fanconi anaemia?
AR inherited aplastic anaemia Short stature, abnormal radii, renal malformation, microphthalmia (when 1 or both eyes don't develop properly), pigmented skin lesions 5 to 6 years old Increased chromosomal breakage of peripheral blood lymphocytes
425
Complications of Fanconi anaemia?
BM failure or transformation to acute leukaemia
426
Shwanchman-Diamond syndrome?
AR BM failure + Pancreatic exocrine failure + skeletal abnormalities Presents with neutropenia or pancytopenia increased risk of acute leukaemia
427
useful screening tests for bleeding disorders?
FBC + blood film Prothrombin time - 10752 Activated Partial Thromboplastin time - 2,5, 8-12) Thrombin time - dysfunction of fibrinogen Quantitative fibrinogen assay D-dimer - Fibrin degradation products Renal + Liver function tests
428
Haemophilia?
X linked recessive A is 8 and B is 9 Severe: random muscle or join bleeds Moderate: Bleed after minor trauma Mild: bleed after surgery Evident wen children start to walk or take long to stop bleeding after blood drawn
429
Management of haemophilia?
Recombinent 8 or 9 Desmopressin - 8 + vWf Avoid IM injection, aspirin + NSAIDS
430
431
Function of vW factor?
Platelet adhesion or damaged endothemlium Carrier protein for factor 8 to prevent it from being inactivated and cleared away
432
vWD?
AD chromosome 12 Bruising, Prolonged bleeding, Mucosal bleeding (epistaxis + menorrhagia) Uncommon to cause joint to muscle bleeding Management: Desmopressin or plasma-derived Factor 8 concentrate
433
Causes of acquired abnormal bleeding?
Vit K deficiency Liver disease Thrombocytopenia (immune or DIC)
434
Vit K uses?
1972 Protein C + Protein S anticoagulants Prolonged Prothrombin time
435
Immune thrombocytopenia?
Destruction of circulating platelets by antiplatelet IgG autoantibodies Reduce platelet + megakaryocytes in BM
436
Immune thrombocytopenia presentation?
Platelet count \< 150 2 to 10 years old 1 to 2 weeks after viral infection Petechiae, purpura, superficial bruising, epistaxis, mucosal bleeding +/- intracranial bleeding
437
Management of immune thrombocytopenia?
Diagnosis of exclusion after BM biopsy and rule out SLE self-limiting within 6 to 8 weeks Oral prednisolone, IV anti-D, IV immunoglobulins Platelet transfusion Rituximab - if chronic
438
DIC?
Coagulation pathway activation leading to diffuse fibrin deposition in microvasculature Post sepsis or shock due to circulatory collapse
439
When to suspect DIC?
Bruising, purpura + haemorrhage Thrombocytopenia, prolonged prothrombin time, Low Fibrinogen, raised D dimer, Low anticoagulants protein C + S
440
Management of DIC?
Fresh frozen plasma - replace clotting factors Cryoprecipitate (fibrinogen than clotting factors) Platelets
441
Purpura fulminas?
DIC + skin necrosis
442
Causative organisms of acute otitis externa?
Pseudomonas or staphy A
443
Causative organisms of acute otitis media?
RSV
444
FeverPAIN score?
Do we give Abx for tonsillitis or nah? Fever Purulent tonsillitis Rapid arrival within 3 days Inflamed No cough or coryza 2/5 then 30 to 40% strep 4/5 - 60% strep
445
Epiglottitis?
Drooling, Dysphagia, Hot potato voice
446
Test to confirm rhesus disease?
Kleihaur
447
OA + TOF?
Polyhydramnios - unable to swallow Bubble, salivation, drool, cyanotic episode after feeding, resp distress, aspiration NG tube + Xray
448
Double bubble + downs?
Duodenal atresia
449
2 periods when testicular torsion peaks?
Neonates Puberty Increasing testosterone
450
Prehn test?
Differentiate between torsion or epididymitis If pain is relieved when elevating the testes then +ve epididymitis
451
Electrolyte imbalance cause by pyloric stenosis?
Hypochloramic Hypokalaemic metabolic alkalosis
452
NEC?
Indomethacin or bacteria Pneumostasis intestinalis/ Intramural air + Dilated bowel loop
453
Cows milk allergy?
Bloody stool Type 1 hypersensitivity Immediate onset of symptoms Rhinorrhoea Itchy nose Urticaria Pruritus
454
What is this and how is it managed?
Bullous impetigo on 2 week old baby Staphy A Systemic Abx - penicillin
455
What is this?
Ringworm Dermatophyte fungi Kerio - severe inflammatory pustular ringworm Tinea capitis - scalp UV light to examine + skin scrapings for fungal hyphae + culture Topical antifungals + treat animal source
456
What is this?
Scabies parasite 8 legged Sarcoptes scabiei **itch** for 2 to 6 weeks worse in warm and night infant - soles, palms + trunk Skin scrape for mites Secondary bacterial infection is a risk Permethrin, Benzyl benzoate emulsion or Malathion
457
What is this?
Herald patch - beginning of Pityriasis rosea (trunk, upper arm, neck or thigh) then other pink macules develop and tends to follow the line of the ribs Self-resolving within 4 to 6 weeks
458
SJS + toxic epidermal necrolysis?
The disproportionate immune response that causes epidermal necrosis resulting in blistering and shedding of the top layer of skin SJS \<10% of the body TEN \>10% of body
459
Causes of SJS?
Medications: Antiepilpetics, Abs, Allopurinol. NSAIDs Infection: HS, Mycoplasma pneumonia, CMV, HIV
460
Clinical presentation of SJS?
Fever, Cough, Sore throat, Sore mouth + eyes + itch Blistering Skin break away leaving raw tissue Pain, erythema, blister + shed of lips and mucous membrane Eyes become inflamed and ulcerated Can affect the urinary tract, lungs and internal organs
461
Management of SJS + TEN?
Remove drug ALDEN (Algorithm for Drug-Induced Epidermal Necrolysis) SCORTEN (Score for Toxic Epidermal Necrolysis) - asses prognosis IV fluids, Mouthwash/ Topical anaesthetics, Ophthalmology assessment ABx + steroids Immunomodulation e.g. Ciclosporin, Cyclophosphamide, Infliximab
462
Symptoms of T1DM in children?
Polyuria, Polydipsia + Weight loss
463
Signs of DKA?
Hyperventiallaiton - Kussmaul breathing Acetone breath Vomit Dehydration Abdo pain Shock Downsines
464
T1DM?
Random BG \>11.1 mmol/L + Glucosureia + ketonuria Blood ketones \>3mmol/L Fasting BG \>7mmol/L HbA1C \>58mmol/L
465
Symptoms of hypoglycaemia?
BG \<4mmol/L Abdo pain, Sweat, Dizziness, Wobbly feeling in legs, Seziures, Coma Glucogel or glucagon injection
466
Management of DKA?
Fluids - Blous, Correct deficit + maintenance dose Insulin (0.05-0.1 U/kg) then 4% dextrose/0.18 saline after 24 hours when blood glucose 14mmol/L Potassium
467
Antagonist of insulin?
Cortisol, Growth hormone, Oestrogen, Testosterone - as children grow they increase how much insulin they will need per day
468
Management of hypoglycaemia?
2ml/kg of 10% dextrose followed by 10% dextrose infusion
469
Causes of congenital hypothyroidism?
Maldescent of thyroid or failure to develop Error of thyroid hormone synthesis Iodine deficiency TSH deficiency as part of panhypopituitarism
470
Test to identify congenital hypothyroidism?
Guthrie test
471
Juvenile hypothyroidism?
High risk are downs + Turners syndrome Autoimmune thyroiditis Growth failure + delayed bone age + goitre
472
Management of hyperthyroidism?
Carbimazole or polythiouracil - interfere with thyroid hormone synthesis BB - anxiety, tremor + tachy Sore throat + fever - 999 as risk of neutropenia
473
Hyopopathyroidism?
Infant - DiGeorge Children - Addisons disease
474
Pseudohypoparathyroidism?
Resistance to PTH - High PTh, Low Calcium, high phosphate Short stature, Obesity, short 4 metacarpals, enamel hypoplasia, calcification of basal ganglia Pseduopsedo - the same but no resistance to PTH
475
Adrenal cortical insufficiency?
Causes: Autoimmune, Haemorrhage, Infarction, Congenital, TB, Long term corticosteroid therapy **Low Na + Glucose, High K**, Dehydrated, Hypotension, Pigmented skin, Lethargy, Vomit, Growth failure Short synacthen test - measure cortisol before and after synthetic ACTH and cortisol remains low Saline, glucose + hydrocortisone but long term glucocorticoid + mineralocorticoid
476
Cushing syndrome?
Face + trunk obesity, hirsutism, striae, growth failure, short, hypertension, bruising, osteopenia, infection, muscle wasting High midnight cortisol + high 24 hour urine free cortisol + failure of cortisol to decrease when given dexamethasone (09:00) +/- adrenal tumour
477
Heel Prick?
Congenital hypothyroidism Sickel cell Cystic Fibrosis Phenylketonuria Medium-chain Acyl-CoA dehydrogenase deficiency Homocystinuria Tyrosinaemia
478
Phenylketonuria?
deficiency of phenylalanine hydroxylase 6 to 12 months musty odour, fair hair, blue eyes, eczema, seizures Restrict dietary phenylalanine + monitor blood concentrations
479
Homocystinuria?
Cystathionine synthetase deficiency developmental delay, subluxation of the ocular lens, LD, psych, convulsion, Marfan like symptoms, fair + thin hair Coenzyme pyridoxine + low methionine diet
480
Tyrosinemia?
AR Deficiency of fumarylacetoacetate Accumulation of toxic metabolite causing liver damage and renal tubular damage NTBC - breaks down tyrosine
481
Galactosaemia?
Deficiency in enzyme required for galactose metabolism Poor feeding, vomit, jaundice + hepatomegaly, cataracts Chronic liver disease+ developmental delay
482
Hyperlipidaemia?
Serum cholesterol \>5/3 mmol/L + family history Or secondary to Hypothyroidism, Obesity, DM, Nephrotic syndrome or obstructive jaundice
483
3 causes of in-toeing in children?
Metatarsus varus Medial tibial torision Persistent anteversion of femoral neck
484
Out-toeing?
Hypermobility, Ehler Danlos, Marfan
485
Developmental Dysplasia of the Hip?
Barlow + Ortolani Ultrasound Splint or harness to keep the hip flexed Necrosis of femoral head is complication
486
Growing pains?
Episodes of generalised symmetrical pain in the lower limbs Pain wakes from sleep and made better by massage 3 to 12 years old Never present at start of day after waking
487
Osteomyelitis?
Infection of the metaphysis of long bones from haematogenous spread from an infected wound e.g. distal femur and proximal tibia swollen skin Staphy A, Strep or HI Immobile, painful, acute febrile illness, swelling, warm Bloods +ve for infection, Normal X ray +/- ST swelling + bone rarefaction, Ultrasound - periosteal elevation IV Abx + surgical apiration/ debridmenet
488
What can be used to differentiate between osteomyelitis + soft tissue swelling?
MRI - show subperiosteal abscess
489
Osteosarcoma
10 to 20 year olds Femur \> Tibia \> Humerus Nocturnal bone pain wakes from sleep, swelling, mass, Restricted movement X rays \<48 hours = poorly defines, fluffy + destruction, Periosteal reaction (sub burst) Bloods = Raised ALP Surgical resection + limb amputation
490
Complications of osetomyelitis?
Septic arthritis Subperiosteal abscess Bone necrosis
491
Bone Malignancies
Osteosarcoma - most common, Prolonged pain + swelling, mostly knee, periosteal reaction + Codman's triangle -- Full body CT for mets Ewing - Painful, warm mass on long bone diaphysis (midshaft), fever, anaemia, raised ESR + WCC Chondrosarcoma - Cartilage malignancy most older people- lytic + fluffy popcorn calcifications
492
Osgood-Schlatter disease?
Osteochondritis of patellar insertions at the knee Males who are very active Knee pain + Tenderness + Swelling over tibial tuberosity + hamstring tightness Management: Less activity, Quads muscle exercises, Hamstring stretch
493
Transient synovitis?
Acute limp + Irritable hip +/- viral infection 2 to 12 year olds sudden onset, decreased internal rotation, afebrile, no pain at rest Managed with bed rest and better within 1 week Risk of developing Perthes disease
494
Perthes disease?
Ischaemia of the femoral head Avascular necrosis of the capital **femoral epiphysis of the femoral head** due to interruption of blood supply then revascularization and reossification over 18 to 36 months Male 5 to 10 Insidious bilateral limp/ hip/ knee pain, Fever, Painful at rest, Hip held flexed \>4 week pain X-ray - Sclerosis + fragmentation of epiphysis Management: conservative management or plaster cast keeping hip abducted or osteotomy
495
Slipped capital femoral epiphysis?
Displacement of the epiphysis of the femoral head posteroinferior (back + down) with risk of avascular necrosis 10 to 15-year-olds + obese + bilateral Associated with metabolic endocrine abnormalities e..g hypothyroidism + hypogonadism Limp + restricted abduction + internal rotation X-ray Surgical pin fixation
496
Reactive arthritis?
Transient joint swelling \<6 weeks of ankles or knees Enteric, viral or STI Low grade fever + normal X ray NSAIDs
497
Septic arthritis?
\<2 years old following puncture wound or infected skin lesions or osteomyelitis Hip Staphy A or HI Warm, Tender, Reduced movement, Still limb and cry if moved Aspirate the joint under ultrasound, Raised WWC + ESR, Blood cultures Wash out + surgical drainage + IV Abx
498
JIA?
\>6 weeks Gelling (stiffness after rest), Morning joint pain + Stiffness, Intermittent limp, Swelling or periarticular soft tissue, Thick synovium Complications: Chronic anterior uveitis, Growth failure, Anaemia, Osteoporosis, Amyloidosis, Genu valgum, Leg lengthening Management: NSAID, Joint injections, Methotrexate, Systemic Methylprednisolone, Anti-TNF alpha or other cytokine modulators
499
Achondroplasia?
Miss Juicy AD, Short stature, large head, frontal bossing, depression of nasal bridge, lumbar lordosis
500
Osteogenesis imperfecta?
Not enough collagen in bones making them fragile and prone to fractures BITE - Bones, Eyes, Teeth, ears AD Bowing + frequent fractures Bisphosphonates
501
Discoid meniscus?
When lateral meniscus remains round instead of becoming cup-shaped
502
Prophylaxis of migraines?
Pizotifen, Propanolol, Topiramate
503
Signs of raised ICP?
Headahce worse when laying down Morning vomit Change in mood or personality Papilloedema
504
Febrile seizures?
seziure + feve4r 6 months to 6 years Bucccal mid or rectal di
505
Causesof funny turns?
Breathe holding after tantrum Reflex anoxic seizure Syncope migraine Benign paroxysmal vertigo (viral labrythianitis)
506
Reflex anoxic seizure
sizure folliwng head trauma, cold, fright or fever Plae then seizure Cardiac asystole from vagal inhibition Brief and rapid recovery
507
Focal seizure types + presentations?
Frontal - motor + clonic - jacksonian march Temporal - aura, altered taste or smell + lip smacking Occipital - distorted vision Parietal - contralateral altered sensation or distorted body image
508
Type of generalised seizures?
Abscence - day dream, eye flicker, abrupt onset and termination Mycolonic - isolated movemnts of limb, neck or trunk Tonic-clonic - typical tonic, cyanosis, clonic, tongue bite + incontinece + post-ictal state Atonic - myclonic the loss of muscle tone then drop like bricks
509
EEG absence seizure?
3/second generalised polyspike + bilaterally synchronous
510
Juvenile Myoclonic Epilepsy?
mycolonic/ tonic-clonic of the arms after waking up 3 to 6Hz generalised polyspike Triggered by lack of sleep, not taking meds, alcohol, flashing lights Management: Valproate or Lamotrigene
511
Management of generalised and focal seizures?
**_Generalised_** - 1st line majory Valproate and 2nd line Lamotrigene TC - V, C A - V, E **_Focal_** - Carbamazepine, Valproate, Lamotrigene
512
Side effects of Valproate?
Weight gain and hair loss
513