Spinal Muscular Atrophy and Communicating Hydrocephalus: A Novel or a Well-Established Rare Association?

Fatimah Z Alkhars,Jaafer Al-Obaid,Nabil Almajhad,Fatimah Alghadeer,Ahmed Y Bo Ali

doi:10.7759/cureus.11433

Abstract

Spinal muscular atrophy (SMA) is a genetic progressive neuromuscular disease characterized by loss of motor neurons, which is linked to mutation of the survival motor neuron-1 gene. Saudi Arabia has a higher than the worldwide prevalence of the disease, estimated to be 4.42/100,000 cases. Association of spinal muscular atrophy with tetraventricular hydrocephalus secondary to Blake’s pouch cyst have rarely been reported. Herein, we report a rare case of genetically confirmed type I spinal muscular atrophy accompanied by communicating hydrocephalus with atypical Blake’s pouch cyst. Further studies are needed to confirm the exact genetic correlation.

Highlights

Spinal muscular atrophy (SMA) is a genetic progressive neuromuscular disease characterized by loss of motor neurons, which is linked to mutation of the survival motor neuron-1 gene
Spinal muscular atrophy (SMA) is a progressive neuromuscular disease characterized by degeneration of the motor neurons of the spinal cord anterior horn cells
It is caused by mutations in the survival motor neuron1 (SMN1) gene located in chromosome 5q in most of cases [1]

Summary

Introduction

Spinal muscular atrophy (SMA) is a progressive neuromuscular disease characterized by degeneration of the motor neurons of the spinal cord anterior horn cells. It is caused by mutations in the survival motor neuron (SMN1) gene located in chromosome 5q in most of cases [1]. The patient was a three-month-old female, the second child of healthy parents with consanguineous marriage She was referred to the pediatric neurology department with a history of weak cry, poor feeding, and progressive peripheral hypotonia. The patient was followed up by a multidisciplinary team comprising neurology, neurosurgery, genetic, pulmonary, and physiotherapy specialists She died at the age of five months secondary to aspiration pneumonia, prior to receiving the first dose of nusinersen

Discussion

Conclusions

Disclosures