Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and early-onset liver cirrhosis in two siblings

We present the clinical, pathological, biochemical, and molecular results o n an infant girl with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase def iciency and data on her deceased elder brother for whom this condition was retrospectively diagnosed. Clinical signs were liver enlargement and elevat ed liver enzymes, failure to thrive, and neurological disease (coma, seizur es) triggered by an infectious stress. In the second child hepatic failure and status epilepticus developed during the onset of a rotavirus gastroente ritis. A barbituric coma was induced, but hypotonia and lack of eye pursuit persisted after suppression of antiepileptic drugs. She ultimately died of heart failure. Unlike previously reported cases, both of these patients ha d early-onset cirrhosis, and severe neurological disease was observed in th e second child. Conclusion Liver cirrhosis and brain damage may be underestimated in cases of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency and may occ ur early in life.