Case Report of an Patient with Recurrent Cerebral Edema Cause by Medium-chain Acyl-coenzyme a Dehydrogenase Deficiency

Background: Recurrent cerebral edema is a rare pathology in adults and children. Metabolic diseases associated with genetic defects are one of the causes that have been found in recurrent cerebral edema.

Case study: 1-year-old patient, male, known with severe global developmental delay, central hypotonic syndrome and genetic syndrome (1p36 deletion) is admitted for tonic-clonic seizures associated with fever (T=38,9 degrees Celsius). After preclinic and imagistic evaluation (laboratory tests and cerebral CT,EEG), the diagnosis is massive intra-infectious acute cerebral edema. Under treatment with antibiotic, antiviral, brain depletive and anticonvulsant, the evolution was initially favorable. When the treatment was discontinued, the patient presented recurrent cerebral edema.

Results: After deep investigations , a metabolic cause is found – MCAD (Medium-chain acyl-coenzyme A dehydrogenase deficiency) with carnitine deficiency in a child with genetic syndrome.

Discussion: Metabolic causes remain in discussion for recurrent cerebral edema when the etiology of tumor, malformations, vascular diseases, infections, especially tuberculosis, have been excluded.

Keywords: recurrent cerebral edema, MCAD, carnitine deficiency, 1p36 deletion.