paeds Flashcards
roseola infantum presentation and causative organism
HHV 6
3-4 days very high fever (up to 40’c)
erythematous rash spreading from trunk to extremities but sparing the face
managed supportively
common complication of roseola infantum
febrile convulsions
presentation of meckels diverticulum
right iliac fossa pain accompanied by rectal bleeding
gold standard investigation for meckels diverticulum
technecium scan
inhertiance of haemophilia A
X-linked recessive
so there is no male-male transmission
murmur associated with turners syndrome
ejection systolic murmur due to bicuspid aortic valve
most common cause of ambiguous genitalia
congenital adrenal hyperplasia
presentation of cephalohaematoma
sually develop after birth and do not cross the suture lines of the skull as the blood is confined between the skull and periosteum
presentation of caput succedaneum
extraperiosteal collection of blood therefore can cross over the suture lines and can be present at birth
how does transient tachypnoea of the newborn present?
This can occur following a caesarean section due to a delay in the clearance of lung fluid leading to reduced oxygenation of the blood causing tachypnoea. It usually settles on its own with conservative management
presentation of respiratory distress syndrome
cause signs of respiratory distress, such as tachypnoea and nasal flaring
diagnosis is strongly associated with pre-term births, due to surfactant insufficiency
presentation of Osteochondritis dissecans
Pain after exercise
Intermittent swelling and locking
what can hand preference before 12 months indicate?
Cerebral palsy
key features of androgen insensitivity syndrome
inguinal hernias containing testes
primary amenorrhoea
androgen insensitivity syndrome- genetics and general presentation
X-linked recessive
genetically male, with XY sex chromosome. However, the absent response to testosterone and the conversion of additional androgens to oestrogen result in a female phenotype externally
androgen insensitivity syndrome- why do patients have external female genitalia but no internal female sexual organs?
The female internal organs do not develop because the testes produce anti-Müllerian hormone, which prevents males from developing an upper vagina, uterus, cervix and fallopian tubes
presentation of partial androgen insensitivity syndrome
micropenis or clitoromegaly, bifid scrotum, hypospadias and diminished male characteristics
1- enzyme deficiency in congenital adrenal hyperplasia
2- why does this cause the blood results seen (low aldosterone, low cortisol, high testosterone)
21-hydroxylase
21-hydroxylase is the enzyme responsible for converting progesterone into aldosterone and cortisol. Progesterone is also used to create testosterone, but this conversion does not rely on the 21-hydroxylase enzyme. In CAH, there is a defect in the 21-hydroxylase enzyme. Therefore, because there is extra progesterone floating about that cannot be converted to aldosterone or cortisol, it gets converted to testosterone instead. The result is a patient with low aldosterone, low cortisol and abnormally high testosterone.
what is the bone marrow failure triad seen in ALL?
anaemia (fatigue/ pallor)
thrombocytopenia (spontaneous bruising/ purpura/ mucosal bleeding)
neutropenia (recurrent infections)
PDA- pulse
large bounding, collapsing pulse
presentation of roseola infantum and causative organism
HHV6
high fever for a few days followed by a maculopapular rash, diarrhoea and cough
4 components of NIPE
heart, hips, eyes, testes
causes of neonatal hypotonia
neonatal sepsis
Werdnig-Hoffman disease (spinal muscular atrophy type 1)
hypothyroidism
Prader-Willi
Maternal causes
maternal drugs e.g. benzodiazepines
maternal myasthenia gravis
inheritance of haemochromatosis
autosomal recessive
methylphenidate (ritalin) monitoring
weight and height every 6 months
features of Edwards syndrome
micrognathia, low-set ears, rocker bottom feet and overlapping of fingers
shaken baby syndrome triad
retinal haemorrhages, subdural haematoma, and encephalopathy
investigation of choice in vesicoureteric reflux
micrturating cystourethrogram
turners- murmur
ejection systolic due to bicuspid aortic valve
management of testicular torsion
surgical fixation of BOTH testes
