[Clinical case of the month. MELAS syndrome].
A patient, born in 1961, was first examined for autoimmune hyperthyroïd at the age of 25. Then, several episodes of serious dehydration and alteration of general condition were followed by a severe encephalopathy with a symptomatology of stroke-like episodes, and during a hospitalization, a volvulus of the colon. Epilepsy developed also. A MELAS syndrome was diagnosed when she was 32 years old, based on her clinical metabolic history of the presence of Ragged-Red-Fibers at muscular biopsy and of the genetical analysis. At the age of 37, after a new episode of encephalopathy, the patient fell into a rapidly evolving coma and deces.
Corman
V
V
Université de Liège, Service de Biochimie.
Rorive
M
M
Hennen
G
G
Windhausen
K
K
D000328:Adult; D001927:Brain Diseases / Q000209:etiology*; D003108:Colonic Diseases / Q000209:etiology; D003128:Coma / Q000209:etiology; D003681:Dehydration / Q000209:etiology; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007415:Intestinal Obstruction / Q000209:etiology; D017241:MELAS Syndrome / Q000150:complications / Q000175:diagnosis* / Q000473:pathology
Le cas clinique du mois. Le syndrome MELAS.