Hermansky-Pudlak syndrome-rare type 10 with AP3D1 mutation.

Vijayakumar Balaraddi, Ketaki Nawlakhe, Shilpa K, Prathik Bandiya

Abstract readCase Reports

In one paragraph

Article in Oxford medical case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1citing papers in PubMed

–field-weighted citation impact

1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

Next-Generation Sequencing and Variant Cataloguing for Screening and Diagnosis of Mucolipidoses and Other Lysosome-Related Organelle Disorders, Including Lysosomal Membrane or Transport Disorders.Genes · 2026
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5 · Who and what money

Authors and funding

4 authors.

Vijayakumar BalaraddiDepartment of Pediatrics and Neonatology, Indira Gandhi Institute of Child Health, Indira Gandhi Institute of Child Heath, South Hospital Complex, Banglore, Karnataka, 560029, India.

Ketaki NawlakheDepartment of Pediatrics and Neonatology, Indira Gandhi Institute of Child Health, Indira Gandhi Institute of Child Heath, South Hospital Complex, Banglore, Karnataka, 560029, India.ORCID https://orcid.org/0000-0002-0642-5638

Shilpa KDepartment of Pediatrics and Neonatology, Indira Gandhi Institute of Child Health, Indira Gandhi Institute of Child Heath, South Hospital Complex, Banglore, Karnataka, 560029, India.

Prathik BandiyaDepartment of Pediatrics and Neonatology, Indira Gandhi Institute of Child Health, Indira Gandhi Institute of Child Heath, South Hospital Complex, Banglore, Karnataka, 560029, India.ORCID https://orcid.org/0000-0002-8212-2655

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Neonates with oculocutaneous albinism who exhibit additional systemic involvement need heightened clinical vigilance and prompt genetic testing. This is a case of a sick dysmorphic late preterm neonate with oculocutaneous albinism, hepatosplenomegaly, microcephaly, central hypotonia and severe encephalopathy, presenting since birth. Genetic analysis revealed AP3D1 gene mutation suggestive of Hermansky-Pudlak Syndrome (HPS) type 10. Severe neurological involvement in HPS is highly suggestive of type 10, indicating poor outcome. This case report aims to give a comprehensive account of the patient's clinical course and offer prognostic insights and guidance that may be applicable to such analogous neonatal cases.

Indexed as

AP3D1 geneHermansky-Pudlak syndromeoculocutaneous albinism

Identifiers

PMID41025021

DOI10.1093/omcr/omaf184

PMCPMC12476544

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