ArticleCureus2026
From Neonatal Cholestasis to Progressive Neurological Impairment: A Case of Niemann-Pick Disease Type C.
Article in Cureus, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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0 citing papers in PubMed.
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Physiological neonatal jaundice typically resolves within the first two weeks of life. Persistence beyond this period should prompt evaluation for neonatal cholestasis, which may represent the first manifestation of an underlying metabolic disorder. We report a six-year-old boy who presented at two months of age with cholestatic jaundice, hepatosplenomegaly, and elevated transaminases. Initial findings suggested congenital cytomegalovirus infection; however, liver biopsy was nonspecific, and further investigations were negative, leading to a diagnosis of idiopathic giant cell hepatitis. Although jaundice resolved, hepatosplenomegaly persisted. Developmental delay became apparent at three years, followed by progressive neurological impairment, including ataxia, dysphagia, and vertical supranuclear gaze palsy. Biochemical testing revealed elevated oxysterols, and molecular analysis confirmed Niemann-Pick disease type C (NPC) due to pathogenic
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