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Article

Sporadic Epstein syndrome with macrothrombocytopenia, sensorineural hearing loss and renal failure.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Oct 2015

Makino Shigeru, Kunishima Shinji, Ikumi Aki, Awaguni Hitoshi, Shinozuka Jun, Tanaka Shin-ichiro, Maruyama Rikken, Imashuku Shinsaku

Abstract excerpt

We report here a sporadic case of Epstein syndrome, one of the MYH9 disorders. A Japanese boy was first noted to have thrombocytopenia at 3 years of age. Blood smear showed giant platelets but no Döhle-like bodies in the neutrophils. He had no family history of thrombocytopenia, hearing loss, and/or renal failure. Thrombocytopenia took a chronic course and platelet count fluctuated in the range 18 000-46 000/μL,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26387855
DOI: 10.1111/ped.12736

Genes

MYH9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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