Infantile Spinal Muscular Atrophy With Respiratory Distress Type 1: A Case Report

Author:

AlSaman Abdulaziz1,Tomoum Hoda2

Affiliation:

1. Department of Pediatric Neurology, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia,

2. Department of Pediatric Neurology, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia, Department of Pediatrics, Ain Shams University, Cairo, Egypt

Abstract

The condition, currently known as spinal muscular atrophy with respiratory distress type 1, is an unusual variant of spinal muscular atrophy type 1 that is characterized by early respiratory failure due to diaphragmatic paralysis. The defective gene, the immunoglobulin μ-binding protein 2 (IGHMBP2 gene), of this autosomal recessive disorder is located on chromosome 11q13 and encodes immunoglobulin μ-binding protein 2. The natural history and phenotypic spectrum of the disease are still not clear. The authors present the first genetically proven case of spinal muscular atrophy with respiratory distress type 1 to be reported from Saudi Arabia. The parents are first cousins and the causative gene sequencing revealed mutation in exon 7 reported for the first time in a homozygous form. The clinical scenario of the case is discussed. The findings in the muscle magnetic resonance imaging (MRI) are presented.

Publisher

SAGE Publications

Subject

Neurology (clinical),Pediatrics, Perinatology and Child Health

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