[Familial deficiency of C7 associated with adrenomyeloneuropathy].
A 24-year old man presented with recurrent meningitis resulting from familial deficiency of a late component of the complement system (C7). Five years later, he developed gait disturbance, mental impairment and loss of hearing. Adrenomyeloneuropathy was diagnosed by a raised plasma long chain fatty acids level.
Pelletier
J
J
Clinique de Neurologie, CHU Timone, Marseille.
Pestre
P
P
ali Chérif
A
A
Drancourt
M
M
Gallais
H
H
Khalil
R
R
D000326:Adrenoleukodystrophy / Q000235:genetics* / Q000473:pathology; D000328:Adult; D003184:Complement C7 / Q000172:deficiency*; D008040:Genetic Linkage; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D016920:Meningitis, Bacterial / Q000209:etiology; D010375:Pedigree; D014960:X Chromosome
D003184:Complement C7
Déficit familial en fraction C7 du complément associé a une adrénomyéloneuropathie.