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USP18 gene mutation associated with recurrent encephalopathy, intracranial calcification, and microcephaly: case report, long-term follow-up, and literature review.

Clinical dysmorphology - 1 Jan 2026

Gowda Vykuntaraju K, Srinivasan Varunvenkat M, Varghese Archana, Kinhal Uddhava V, Pandey Himani, Lal Devi

Abstract excerpt

INTRODUCTION: Pseudo-TORCH syndrome type 2 is a rare autosomal recessive disorder caused by biallelic variants in the USP18 gene. Clinically, affected individuals exhibit multisystem involvement, including intracranial calcification (ICC) and haemorrhage, seizures, hepatosplenomegaly, and thrombocytopenia. To date, only 11 cases have been reported in the literature. CASE REPORT: We report a case of an Indian girl...

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PMID: 41198138
DOI: 10.1097/MCD.0000000000000538

Genes

USP18

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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