Enfermedad de Niemann-Pick en una escolar / Niemann-Pick Disease in a scholar girl

Introducción: La enfermedad de Niemann-Pick tipo C es una enfermedad poco frecuente, autosómica recesiva, caracterizada por el depósito de lípidos a nivel lisosomal, que, a pesar de ser tratable, es mortal en todos los casos y representa una importante carga para los pacientes y sus familias. Objetivo: Contribuir al conocimiento de esta rara enfermedad neurovisceral progresiva de curso fatal. Presentación del caso: Se trata de una niña de 7 años de edad, que a los 2 años asistió a consulta por trastornos de la marcha, con deterioro progresivo de esta, así como del lenguaje y el comienzo de crisis epilépticas. Evolutivamente presentó cataplejías gelásticas, paresia de la mirada vertical y esplenomegalia. Estos elementos clínicos evolutivos fueron lo suficientemente distintivos para orientar la sospecha clínica y las investigaciones necesarias para llegar al diagnóstico definitivo de la enfermedad. Con la confirmación de que se trataba de la enfermedad de Niemann-Pick tipo C, se comenzó tratamiento con miglustad a dosis de 100 mg dos veces al día. Conclusiones: El deterioro neurológico progresivo, la cataplejía gelástica, la paresia de la mirada vertical y la esplenomegalia, unido a los resultados del medulograma y el estudio genético permitieron el diagnóstico de esta entidad(AU)

Introduction: Niemann-Pick type C disease is a non-frequent, recessive autosomal one, which is characterized by lipids deposit in the lysosomal level. Although this disease is treatable, it is fatal in all the cases and it represents a important burden to patients and their families. Objective: To contribute to the knowledge on this rare, progressive neurovisceral disease with fatal evolution. Case presentation: Seven- years- old girl, whom at two years old attended to a consultation for walk disorders presenting a progressive worsening of it, as well of the speech, and also presented an onset of epileptic crisis. In the evolution she presented gelastic cataplexy, vertical look´s paresia and splenomegaly. These clinical evolutive elements were sufficiently distinctive to indicate the clinical suspicion and the necessary research to reach its definitive diagnostic. With the confirmation of Niemann-Pick type C disease, miglustad was used as treatment with a dose of 100 mg twice in the day. Conclusions: Progressive neurological worsening, gelastic cataplexy, vertical look´s paresia and splenomegaly joined with the results of a medulogram and the genetic study permitted this disease to be identified(AU)

Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea

Niemann-Pick disease, type C (NP-C), is caused by NPC1 or NPC2 gene mutations. Progressive neurological, psychiatric, and visceral symptoms are characteristic. Here, we present cases of a brother (Case 1) and sister (Case 2) in their mid-20s with gait disturbance and psychosis. For the Case 1, neurological examination revealed dystonia, ataxia, vertical supranuclear-gaze palsy (VSGP), and global cognitive impairment. Case 2 showed milder, but similar symptoms, with cortical atrophy. Abdominal computed tomography showed hepatosplenomegaly in both cases. NPC1 gene sequencing revealed compound heterozygote for exon 9 (c.1552C>T [R518W]) and exon 18 (c.2780C>T [A927V]). Filipin-staining tests were also positive. When a young patient with ataxia or dystonia shows VSGP, NP-C should be considered.