19 March 2026
: Case report 
Early Diagnosis of Nieman–Pick Disease Type C and Rapid Response of Gelastic Cataplexy to Treatment With N-Acetyl-L-Leucine: A Case Report
Challenging differential diagnosis, Unusual or unexpected effect of treatment, Rare disease
Kitiwan Rojnueangnit
ABCDEF 1,2*, Sukita Puttamanee BCE 2, Sukkrawan Intarakhao BE 1, Khanittha Khusiwilai BE 1
DOI: 10.12659/AJCR.951570
Am J Case Rep 2026; 27:e951570
Figure 1 Integrative Genomics Viewer file view illustrating compound heterozygous likely pathogenic variants in the NPC1 gene (NM_000271.5). The c.2072C>T (chr18-23544402 G>A) in our patient (A) and his mother (C), wild-type in his father (B), and c.2805A>G (chr18-23539461 T>C) in our patient (D) and his father (E), and wild-type in his mother (F).