Niemann-Pick disease: the importance of clinical suspection for the diagnosis

*Correspondence: [e-mail].

Abstract

Case Presentation: We will report a case of Niemann Pick Type C which was followed up by the Pediatric Neurology team at Hospital Santo Antônio. Patient, RLAS, male, 4 years old, born in and from Vitória da Conquista, admitted to the pediatric ward in April/2021, presenting progressive loss of movement for about 9 months in REG, atypical facies, presence of hypochromic spots on the abdomen , good interaction with the examiner, understood simple commands, however, with reduced vocabulary, vertical gaze palsy, only with cervical support, presence of hepatosplenomegaly, hypotrophic, hypotonic, reduced muscle strength in the four limbs, did not walk, with appendicular ataxia. At first, we requested a dosage of lyso-esphingomyelin (Lyso-509) in blood on filter paper with a result of 1880 nmol/L (within the reference value). The patient returns with a worsening of the clinical picture and we insist on the hypothesis of NPC collected molecular genetic test of the NPC1 and NPC2 genes, with result in homozygosity for the pathogenic variant c.3104C>T (p.Ala1035Val) found in the NPC1 gene, related to the disease of Niemann-Pick C.

Discussion: Niemann-Pick disease is a rare lysosomal storage or accumulation disorder with an estimated birth rate of 0.4-0.6/100.000. Deficiency of the lysosomal enzyme acid sphingomyelinase causes progressive accumulation of unesterified cholesterol and sphingosine in hepatocytes, reticuloendothelial cells, and, in severe cases, neurons.

Final Comments: Due to its rarity associated with diagnostic and follow-up difficulties, a significant and continuous collection of data on the epidemiology, phenotype, genotype and disease evolution is necessary for the evolution of the clinical management of patients with NPC.

Publication History

Article published online:
12 May 2025