[Our experience with Kufs disease: familial form and sporadic case].
Our experience on Kufs' disease includes a familiar, neurovisceral form and a sporadic case. The familiar form shows an autosomal, dominant inheritance, and belongs to Berkovic's type B. A variability on the age of onset was observed, being more protracted in women. The sporadic case belongs to Berkovic's type A. Her EEG showed a periodic, short-interval, activity for a long period of illness. NMR findings were nonspecific for the diagnosis. All cases showed granular osmiophilic deposits, but not storage characterized by fingerprint profiles. Visceral storage in many cases on Kufs' disease suggests the utility of visceral biopsy evaluation for the diagnosis during life.
Departamento de Medicina, Hospital La Paz.
J
J
Arpa
B
B
Anciones
M
M
Gutiérrez
C
C
Morales
P
P
Barreiro
A
A
Caminero
T
T
Alonso
E
E
Díez
D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics / Q000473:pathology*
Nuestra experiencia sobre la enfermedad de Kufs: forma familiar y caso esporádico.