other conditions Flashcards
1
Q
what is McArdle’s disease
A
- glycogen storage disease caused by defect in enzymes required for glycogen storage
- enzyme deficiency of myophosphorlyase
2
Q
McArdle’s disease presentation
A
- stiffness and myalgia on exercise, followed by typical second wind
- myoglobinuria after exercise
3
Q
what is Kawasaki disease
A
large-medium sized vasculitis
4
Q
Kawasaki disease presentation
A
- fever > 5 days
- bacterial conjunctivitis
- cervical lymphadenopathy
- widespread polymorphous rash
- dry cracked lips and strawberry tongue
- changes in extremities (oedema, erythema, desquamation)
5
Q
what is phenylketonuria
A
mutation in phenylalanine hydroxylase
6
Q
phenylketonuria presentation
A
- low and reducing IQ
- fair hair and eczema
- musty smelling urine
7
Q
what is enuresis
A
involuntary discharge of urine by day or night (or both) in a child 5 years or older, in the absence of congenital/acquired defects of the nervous system or urinary tract
8
Q
enuresis management
A
- 1st line if under 7: alarm
- 1st line if > 7 or alarm not effective: desmopressin
9
Q
what are threadworms
A
- infestation with threadworms/pinworms (enterobius vermicularis)
- occurs after swallowing eggs that are present in the environment
10
Q
threadworm presentation
A
- asymptomatic
- perianal itching, especially at night
- girls may have vulval symptoms
11
Q
threadworms diagnosis
A
Sellotape perianal area, and send to lab for microscopy to see eggs
12
Q
threadworms management
A
- hygiene and single dose mebendazole for child and all of family
- mebendazole for kids under 6 months
- single dose given unless it persists
13
Q
what is Turner’s syndrome
A
- 45X or 45XO
- deletion of short arm of one of X chromosomes or presence of only one X chromosome
14
Q
Turner’s syndrome features
A
- short stature
- shield chest, widely spaced nipples
- webbed neck
- bicuspid aortic valve (ejection systolic murmur, coarctation of the aorta)
- primary amenorrhoea
- cystic hygroma
- high arched palate
- short fourth metacarpal
- multiple pigmented naevi
- lymphoedema in neonates (especially feet)
- gonadotrophin levels will be elevated
- hypothyroidism is much more common in Turner’s
- horseshoe kidney
15
Q
what is William’s syndrome
A
inherited neurodevelopmental disorder causes by a microdeletion on chromosome 7
