An 8 days old child presents with yellow sclera, whitish stool and turmeric colour urine on the 3rd day of septicemia on broad-spectrum antibiotics, the likely diagnosis is –
Correct Answer: Galactose 1–4 phosphatase uridyl transferase deficiency
Description: A feature of conjugated bilirubinemia on the 3rd day accompanied by sepsis in a neonate suggests diagnosis of Galactosemia.
Due to the accumulation of galactitol; damage to nerve tissue and liver occurs which cause.
Hepatic parenchymal disease- jaundice, hepatomegaly and ascites
Mental retardation
Vitreous hemorrhage
Acidosis
Splenomegaly
Cataract
Seizures
Hypoglycemia
Fanconi syndrome → Aminoaciduria, proteinuria and phosphaturia.
The symptoms of the severe from of the disease are similar to the symptoms of the patient child in the Question -i Jaundice, hepatomegaly vomiting and septicemia (due to E. coli).
Category:
Pediatrics
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