A 5-day-old child presents with intractable seizures. He had rashes all over the body. Blood examination showed hyperammonemia and lactic acidosis. The probable diagnosis is:
Correct Answer: Organic acidemia
Description: -Presence of hyperammonemia along with lactic acidosis in a child with neurological and cutaneous manifestations suggests a diagnosis of Organic acidemia. -C/F of Organic acidemia: Lethargy, poor feeding, coma, vomiting, seizures, developmental delay, dystonia, specific odour -Investigation findings: Metabolic acidosis, lactic acidosis, ketosis, Hyperammonemia , Hypoglycemia , Neutropenia. Types of Organic Acidemia: Maple syrup urine disease Methylhmalonic acidemia Propionic acidemia Multiple Carboxylase deficiency Glutaric acidemia Isovaleric acidemia OTHER OPTIONS: Mitochondrial encephalopathy with lactic aciduria- stroke like episodes Phenylketonuria- microcephaly, epilepsy, musty body odour, reduced skin/hair/eye pigmentation Urea cycle enzyme deficiency- poor feeding, seizures, no rash
Category:
Pediatrics
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