[Neurological aspects of ceroid-lipofuscinoses].
OBJECTIVE
We discuss the historical, epidemiological, clinical, complementary tests and neuropathological details of ceroid-lipofuscinoses in children.


METHODS
Initially, we review the basic concepts and historical details of the disorders, and the frequency and distribution of the different clinical forms. Subsequently, we review the subtypes and variants most commonly found in children, together with the elements necessary for diagnosis. Finally we analyze the neuropathological studies and their clinical correlation.


CONCLUSIONS
The clinical diagnosis of ceroid-lipofuscinoses should be based on a clinical history showing disorders of vision, convulsions and regression of psychomotor functions. Neuroimaging findings, neurophysiological changes and ultrastructural studies confirm the diagnosis.
Peña
J A
JA
Servicio de Neurología Pediátrica, Hospital Universitario de Maracaibo, Venezuela. jokar1@telcel.net.ve
Cardozo
J
J
González
S
S
Luna
D
D
D001921:Brain / Q000473:pathology* / Q000648:ultrastructure; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D006801:Humans; D007223:Infant; D008268:Macular Degeneration / Q000175:diagnosis / Q000209:etiology; D008279:Magnetic Resonance Imaging; D009472:Neuronal Ceroid-Lipofuscinoses / Q000150:complications / Q000175:diagnosis*; D011596:Psychomotor Disorders / Q000175:diagnosis / Q000209:etiology; D012640:Seizures / Q000175:diagnosis / Q000209:etiology