[Neuronal ceroid-lipofuscinosis--a childhood form. Clinical study].
Ten cases of the late-childhood form of neuronal ceroidolipofuscinosis are presented stressing particularly the great uniformity of the clinical pattern in various cases. Epileptic fits were the presenting sign, followed by progressive dementia, motor disturbances and visual disturbances. The appearance of these clinical signs associated with diffuse, high-grade dysrhythmia in EEG and progressing cerebral atrophy in CT images are indications to rectal mucosa biopsy or biopsy examination of the appendix, skin or conjunctiva. Histochemical and ultrastructural examinations of biopsy material make possible intravital diagnosis of neuronal ceroidolipofuscinosis.
Zgorzalewicz
B
B
Kliniki Neurologii Rozwojowej, Poznaniu.
Wender
M
M
Wajgt
A
A
Zwyrzykowska-Kierys
E
E
Szczech
J
J
D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004827:Epilepsy / Q000175:diagnosis; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis; D008297:Male; D009069:Movement Disorders / Q000175:diagnosis; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis* / Q000235:genetics
Ceroidolipofuscynoza neuronalna--postać dziecieca. Studium kliniczne.