https://pubmed.ncbi.nlm.nih.gov/36265573/ Neimann- Pick

J Pediatr. 2022 Oct 17;S0022-3476(22)00902-7.
doi: 10.1016/j.jpeds.2022.10.015.Online ahead of print
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A retrospective multicentric study on 34 patients with Niemann-Pick type C disease and early liver involvement in France

Antoine Gardin 1, Charlotte Mussini 2, Bénédicte Héron 3, Manuel Schiff 4, Anaïs Brassier 5, Dries Dobbelaere 6, Pierre Broué 7, Caroline Sevin 8, Marie T Vanier 9, Dalila Habes 10, Emmanuel Jacquemin 11, Emmanuel Gonzales 11
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PMID: 36265573

DOI: 10.1016/j.jpeds.2022.10.015
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Abstract
Objectives: To describe the clinical features and course of liver involvement in a cohort of patients with Niemann-Pick type C disease (NP-C), a severe lysosomal storage disorder.

Study design: Patients with genetically confirmed NP-C (NPC1, n=31; NPC2, n=3) and liver involvement before age 6 months were retrospectively included. Clinical, laboratory measurements and imaging data were collected until last follow-up or death; available liver biopsy specimens were studied using anti-CD68 immunostaining.

Results: At initial evaluation (median age: 17 days of life), all patients exhibited hepatomegaly, 33 had splenomegaly and 30 had neonatal cholestasis. Portal hypertension and liver failure developed in 9 and 4 patients respectively. Liver biopsy studies, performed in 16 patients, revealed significant fibrosis in all and CD68-positive storage cells in 15. Serum alpha-fetoprotein concentration measured in 21 patients was elevated in 17. Plasma oxysterols concentrations were increased in the 16 patients tested. Four patients died within 6 months of life, including three from liver involvement. In patients who survived beyond 6 months of age (median follow-up 6.1 years), cholestasis regressed in all and portal hypertension in all but one; 25 patients developed neurological involvement which was fatal in 16 patients
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Conclusions: Liver involvement in NP-C consisted of transient neonatal cholestasis with hepatosplenomegaly, was associated with liver fibrosis and was responsible for death in 9% of patients. The combination of liver anti-CD68 immunostaining, serum alpha-fetoprotein measurement and studies of plasma biomarkers should facilitate early identification of NP-C.