Challenges in diagnosing a metabolic disorder: error of pyruvate metabolism or drug induced?

Certain drugs are known to cause metabolic changes resulting in altered metabolic profiles. We report here a case where a combination of antiepileptic drugs resulted in a profile that mimicked a metabolic disorder. A 16month-old female child on antiepileptic drugs (valproate and topiramate) was suspected to have the inherited metabolic disorder, dihydrolipoamide dehydrogenase deficiency, based on clinical symptoms and metabolic profile showing hyperalaninemia, elevated branched-chain amino acids, and lactate-pyruvate ratio.

Prenatal dolichocephaly: sign of trouble? -A variant of Miller-Dieker syndrome.

Neuroimaging and molecular cytogenetics were used to ascertain the cause of disability in a case. The case was diagnosed to be a variant of Miller-Dieker syndrome (MDS). Retrospective analysis showed a prenatal scan reporting dolichocephaly.