[Progressive myoclonic epilepsy as a sign of a late form of Alpers syndrome].
BACKGROUND
Progressive cerebral polidystrophy or Alpers syndrome is a clinico-pathological picture, with no specific biological marker, characterized by involvement mainly of the cerebral grey matter and which shows clinically as a rapidly progressive encephalopathy with intractable seizures, usually myoclonic. The typical picture starts, after a normal neonatal period, during the first two years of life.


METHODS
A boy who after some previous difficulty with school-work presented with epilepsy at the age of 10 years and when he was 11 years old had a sudden illness with intractable seizures and severe neurological deterioration with spastic-dystonic tetraparesia, absence of visual function and minimal social contact to vocal or tactile stimuli. He had had a previously normal brother who died at the age of seven years during status epilepticus. Skin and muscle biopsies showed increase in the number and size of the mitochondria. Study of the respiratory chain in muscle showed a partial deficit in the activity of cytochrome C oxidase. CAT scanning showed marked generalized atrophy after four years.


CONCLUSIONS
This case fulfils the criteria for Alpers syndrome established by Adams and Lyon in 1996. We consider that in the context of Alpers syndrome ultrastructural changes in the mitochondria of skin and muscle and partial deficit of enzyme activity of the IV complex of the respiratory chain should be evaluated. We emphasize the late presentation of Alpers syndrome, which has rarely been reported in the literature.
Galván-Manso
M
M
Sección de UCIP y Neuropediatría, Hospital Infantil Universitario Miguel Servet, Zaragoza, España.
Tabuenca
Y
Y
Medrano
P
P
Ruiz-Escusol
S
S
Giménez-Mas
J A
JA
López-Pisón
J
J
D017668:Age of Onset; D001706:Biopsy; D001921:Brain / Q000473:pathology; D002648:Child; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000175:diagnosis*; D003576:Electron Transport Complex IV / Q000378:metabolism; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009132:Muscles / Q000378:metabolism / Q000473:pathology; D020191:Myoclonic Epilepsies, Progressive / Q000209:etiology*; D014057:Tomography, X-Ray Computed
D003576:Electron Transport Complex IV