[Characterization of neuronal ceroid lipofuscinosis in Venezuelan children]. / Caracterización de la ceroidolipofuscinosis en niños venezolanos.

INTRODUCTION: Neuronal ceroid lipofuscinosis (NCL), represents a group of inherited neurodegenerative disorders. Based on the age of the patient at onset, clinical course and ultrastructural morphology it has been identified three clinical types for the pediatric group: 1) Infantile NCL (INCL); 2) Late infantile NCL (LINCL); and 3) Juvenile NCL (JNCL). Other variants or atypical forms represent around 20% of the NCL in different populations. Genetic advances have made possible a better characterization, diagnostic and classification of these disorders. CASE REPORTS: We present the clinical, neurophysiological, neuroradiological, and morphological data from 6 patients with NCL, who were assessed at the pediatric neurology department of the Hospital Universitario de Maracaibo during a ten years period (1993 2003). All 6 cases corresponded with the late infantile form. Age of onset ranged form 2 to 5 years. For most of the patients initial symptoms included seizures, psychomotor delay, accompanied by macular degeneration and optic atrophy. The EEG was characterized by high voltage spikes elicited by low frequency photic stimulation, in 5 cases. Neuroimaging findings were characteristic of the late infantile form of the NCL. In three patients a decreased intensity of signal was seen in the thalami and putamen on T2-weighted images. The ultrastructural examination of the samples obtained through a biopsy showed curvilinear bodies in all patients. CONCLUSION: There is not epidemiological data of the NCL in Venezuela; it is presumed the presence of clinical forms and variants in the pediatric group. This first study could contribute to the knowledge and a better research of this group of disorders in our population.

Caracterización de la ceroidolipofuscinosis en niños venezolanos / Characterization of neuronal ceroid-lipofuscinosis in venezuelan children

Introducción. La ceroidolipofuscinois neuronal (CLN) representa un grupo de trastornos neurodegenerativos de origen genético. En función de la edad de comienzo, el curso clínico y la morfología ultraestructural, se reconocen tres formas clínicas en la edad pediátrica: 1) CLN infantil (INCL); 2) CLN infantil tardía (LINCL), y 3) CLN juvenil (JNCL). Otras variantes o formas atípicas representan alrededor de un 20 por ciento de las CLN en diferentes poblaciones. Los avances en genética han permitido una mejor caracterización, diagnóstico y clasificación de estos trastornos. Casos clínicos. Se presentan los datos clínicos, neurofisiológicos, neurorradiológicos y morfológicos de seis pacientes con CLN evaluados en el Servicio de Neuropediatría del Hospital Universitario de Maracaibo, durante 10 años (1993-2003). Todos los casos correspondieron a la forma infantil tardía. La edad de comienzo varió entre los 2 y los 5 años. En la mayoría de los pacientes los síntomas iniciales fueron convulsiones y retardo psicomotor, acompañados de degeneración macular y atrofia óptica. El EEG practicado con fotoestimulación en frecuencias bajas evidenció, en cinco casos, puntas occipitales de amplitud elevada. Los hallazgos en la neuroimagen fueron característicos de la forma LINCL. En tres pacientes se objetivaron lesiones hipointensas en regiones talámicas en las imágenes ponderadas en T2. El examen ultraestructural del material obtenido mediante biopsia mostró cuerpos curvilíneos en todos los pacientes estudiados. Conclusión. No existen datos epidemiológicos de CLN en Venezuela. Se presume la existencia de formas clínicas y variantes en edad pediátrica. Este primer estudio puede contribuir al conocimiento y mejor investigación de este grupo de trastornos en nuestra población (AU)

Introduction. Neuronal ceroid-lipofuscinosis (NCL), represents a group of inherited neurodegenerative disorders. Based on the age of the patient at onset, clinical course and ultraestructural morphology it has been identified three clinical types for the pediatric group: 1) Infantile NCL (INCL); 2) Late infantile NCL (LINCL); and 3) Juvenile NCL (JNCL). Other variants or atypical forms represent around 20% of the NCL in different populations. Genetic advances have made possible a better characterization, diagnostic and classification of these disorders. Case reports. We present the clinical, neurophysiological, neuroradiological, and morphological data from 6 patients with NCL, who were assessed at the pediatric neurology department of the Hospital Universitario de Maracaibo during a ten years period (1993-2003). All 6 cases corresponded with the late infantile form. Age of onset ranged form 2 to 5 years. For most of the patients initial symptoms included seizures, psychomotor delay, accompanied by macular degeneration and optic atrophy. The EEG was characterized by high voltage spikes elicited by low frequency photic stimulation, in 5 cases. Neuroimaging findings were characteristic of the late infantile form of the NCL. In three patients a decreased intensity of signal was seen in the thalami and putamine on T2-weighted images. The ultraestructural examination of the samples obtained thru a biopsy showed curvilinear bodies in all patients. Conclusion. There is not epidemiological data of the NCL in Venezuela; it is presumed the presence of clinical forms and variants in the pediatric group. This first study could contribute to the knowledge and a better research of this group of disorders in our population (AU)