PEDIA 3A PRELIMS RATIONALE

CARIAGA

94. Hypoglycaemia, hyponatremia, autosomal recessive

A. CAH
Main features of CAH are deficiency in cortisol (low blood sugar/ hypoglycaemia), deficiency in
aldosterone (low serum Na/ hyponatremia) and deficiency in testosterone (masculinization of
females).
CAH is also inherited in an autosomal recessive manner. Each child has a 1 in 4 (25%) chance of
getting the disease.

95. Failure to thrive, excessive urination, seizures

A.CAH
Due to the hyponatremia, there will be severe dehydration. Aldosterone production is
inadequate. 5-15 days after birth: poor sucking, weakness, coma, vomiting, excessive urination,
dehydration, irritability, seizures, failure to thrive, hypotension, ends up with shock.

96. Umbilical hernia, constipation, hypotonia

B. CONGENITAL HYPOTHYROIDISM
Initial clue: large fontanelles
Coarse facial features
-Macroglosia(big tongue)
-Hoarse cry
-Hypotonia
-Delayed deep tendon reflexes release
-Distended abdomen
-Constipation
-Prolonged jaundice
-Goiter
-Poor peripheral circulation (mottled skin)
-Umbilical hernia
-Anemia
-Baby does not move much
-Generally sluggish
-Hypothermia

97. Macroglossia, mental retardation, delayed puberty

B. CONGENITAL HYPOTHYROIDISM
Same ration with no.96 plus:
Late manifestations: mental retardation, growth retardation, delayed skeletal maturation,
delayed dental development and tooth eruption, delayed puberty.
98. Manifest vomiting, jaundice, poor feeding after 2 weeks of breastfeeding
C.GALACTOSEMIA
Normal at birth but may develop symptoms a few days to 2 weeks after initiation of milk
feedings:
-poor feeding
-vomiting and occasionally diarrhea
-jaundice
-lethargy, weakness, coma
-edema
-ascites
-hepatomegaly
-cataracts
-mental retardation
-cirrhosis of the liver
-growth failure

99. Mousy odour of urine, autosomal recessive

D.PKU (PHENYLKETONURIA)
Excessive amounts of waste products of phenylalanine (phenyletones) in the urine gives the
mousy odour which is the characteristic finding.
Inherited in an autosomal recessive manner. Each child has a 1 in 4 (25%) chance of getting the
disease.

100. Anaemia, jaundice, x linked recessive inheritance

E. G6PD
Since there is no G6PD activity, there will be haemolysis. Consequences of haemolysis are RBC
destruction (anaemia) and degradation of haemoglobin. In the liver, haemoglobin is broken
down to bilirubin and excessive bilirubin causes jaundice.
Inherited in an X-linked recessive manner. Primarily affects males.