Mulibrey nanism and immunological complications: a comprehensive case report and literature review.

ABSTRACT:

Introduction

Mulibrey nanism (MUL) is a rare disorder caused by TRIM37 gene variants characterized by growth failure, dysmorphic features, congestive heart failure (CHF), and an increased risk of Wilms' tumor. Although immune system impairment has been documented in MUL, the underlying mechanisms remain poorly understood.

Methods

We present a case of MUL with progressive lymphopenia and review similar cases from the literature.

Results

Our patient presented with prenatal onset growth restriction, characteristic dysmorphic features, and Wilms' tumor. She developed progressive lymphopenia starting at 10 years of age, leading to the initiation of intravenous immunoglobulin (IVIG) replacement therapy and infection prophylaxis. Genetic analysis detected a likely pat

SUBMITTER: Gazzin A 

PROVIDER: S-EPMC10728670 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature