A child presented with abdominal distension, hepatomegaly, doll like facies and recurrent episodes of hypoglycemia. Which of the following is the most likely diagnosis?
Menkes disease
Down syndrome
Von gierke disease
Lesch nyhan syndrome
Menkes disease- aka kinky hair disease - Defect in copper binding ATPase - Involves CNS- intellectual disability, seizures - Characterized by sparse hypopigmented kinky hairs. - Trichorrhexis nodosa and pili toi seen Von Gierke disease is glycogen storage disease type I, in which the child has doll like facies, abdominal distension, hepatomegaly and recurrent episodes of hypoglycemia. On investigation, there is hyperlipidemia, hyperuricemia and lactic acidosis. Lesch nyhan syndrome- mental retardation, microcephaly, seizures and gout.