CC BY 4.0 · Arq Neuropsiquiatr 2023; 81(S 01): S1-S96
DOI: 10.1055/s-0043-1774595
CASE REPORT
Neurogenética
Code: PE145

Niemann Pick Type C1: a rare disease and a race against time

Hanid Fontes Gomes
1   Hospital Municipal Jesus, Rio de Janeiro RJ, Brazil
,
Victoria Holcman de Marsillac
1   Hospital Municipal Jesus, Rio de Janeiro RJ, Brazil
,
Carolina Sanches Alvim de Oliveira
1   Hospital Municipal Jesus, Rio de Janeiro RJ, Brazil
,
Renata Beatriz Boechat Quadros
1   Hospital Municipal Jesus, Rio de Janeiro RJ, Brazil
,
Carolina Paixão Santos
1   Hospital Municipal Jesus, Rio de Janeiro RJ, Brazil
,
Gabriela Rochedo Villela
1   Hospital Municipal Jesus, Rio de Janeiro RJ, Brazil
,
Ana Clara Fandinho Montes
2   Instituto Fernandes Figueira, Rio de Janeiro RJ, Brazil
,
Thaís Siqueira Fernandes
2   Instituto Fernandes Figueira, Rio de Janeiro RJ, Brazil
,
Manuella Pinto Pessanha Siqueira
1   Hospital Municipal Jesus, Rio de Janeiro RJ, Brazil
› Author Affiliations
 

    Case presentation: This is a report of a female patient from Hospital Municipal Jesus, seven years old, born in Rio de Janeiro, without gestational and perinatal history abnormalities, that at six months years old after persistent abdominal distension, was diagnosed with splenomegaly with spontaneous regression. When two years old, began with gait disturbances, and later with paresis on the right inferior limb, recurrent loss of balance, with stumbles. In few months, developed a total loss of strength of inferior and superior limbs and body trunk. At five years old, experienced dysphagia, complete aphasia, loss of interaction, cataplexy, ocular paralysis, leading her to several hospitalizations, later needing tracheostomy and gastrostomy. During the last hospitalization, a genetic molecular test was collected confirming Niemann Pick type C1 (NPC).

    Discussion: Niemann Pick type C1 is a rare autosomal recessive genetic disease, consisting of mutations in the NPC1 gene, and to a lesser extent in NPC2. Gene that is responsible for intracellular transport, especially cholesterol, and its mutation is responsible for the defect in this transport, causing a complex lysosomal lipidosis. It is subdivided by clinical manifestations, according to age group. In children under two years of age, symptoms may be intrauterine or neonatal stage, commonly with ascites, hepatomegaly or hepatosplenomegaly, prolonged icterus, and infiltrative lung disease, and can even lead to multiple failure and death in a few days. Between two and six years of age, the manifestations are usually noticed with gait alteration, presenting stumbling and imbalances, ataxias, generalized hypotonia with dysphagia and dysarthria, and vertical ocular paralysis, in addition to learning difficulties that progressively intensify with cognitive alterations and regression, even dystonia and cataplexy. In some cases, they associate seizures. After diagnosis, multidisciplinary support is recommended, and currently Miglustat, a molecule that reversibly inhibits glucosylceramide synthase, proves to increase life expectancy from five to 10 years.

    Final comments: The patient had manifestations compatible within her age group, although, her diagnosis was made at an advanced age and in the face of extensive commitment, through genetic molecular testing at six years of age. A present, an earlier diagnosis allows to slow down neurodegeneration with Miglustat, and improves life quality.


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    No conflict of interest has been declared by the author(s).

    Publication History

    Article published online:
    18 September 2023

    © 2023. Academia Brasileira de Neurologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/)

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