On a rare atypical form of metachromatic leukodystrophy (MLD): "neurological non-mld patients with low levels of arylsulphatase A". Description of two cases.
Two young patients (a brother and his sister) with low ASA levels who had myoclonic seizures since the age of eight years, were investigated by means of electrophysiological, neuroradiological and laboratory tests and submitted to a physical examination. In both patients, the disease started at the age of eight years with drug resistent myoclonic seizures. Intelligence was not impaired and ASA levels were lower than normal, but clinical features were not those of classic MLD. Electrophysiological study revealed altered SEPs and normal BAEPs (they are both altered in leukodystrophy). Therefore our findings conclude that tour patients must be considered "Neurological patients non-MLD with low levels of ASA".
Grasso
A
A
Fiumara
A
A
Biondi
R
R
Nigro
F
F
Nardone
G
G
Bonomo
M G
MG
Sicurella
L
L
Scrofani
A
A
D000293:Adolescent; D002553:Cerebroside-Sulfatase / Q000378:metabolism*; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000209:etiology* / Q000503:physiopathology; D005260:Female; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000150:complications / Q000175:diagnosis* / Q000201:enzymology
D002553:Cerebroside-Sulfatase