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

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. Associatio...

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Autores principales: Alkhars, Fatimah Z, Almajhad, Nabil, Al-Obaid, Jaafer, Alghadeer, Fatimah, Bo Ali, Ahmed Y
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2020
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7732731/
https://www.ncbi.nlm.nih.gov/pubmed/33324516
http://dx.doi.org/10.7759/cureus.11433
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author Alkhars, Fatimah Z
Almajhad, Nabil
Al-Obaid, Jaafer
Alghadeer, Fatimah
Bo Ali, Ahmed Y
author_facet Alkhars, Fatimah Z
Almajhad, Nabil
Al-Obaid, Jaafer
Alghadeer, Fatimah
Bo Ali, Ahmed Y
author_sort Alkhars, Fatimah Z
collection PubMed
description 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.
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spelling pubmed-77327312020-12-14 Spinal Muscular Atrophy and Communicating Hydrocephalus: A Novel or a Well-Established Rare Association? Alkhars, Fatimah Z Almajhad, Nabil Al-Obaid, Jaafer Alghadeer, Fatimah Bo Ali, Ahmed Y Cureus Neurology 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. Cureus 2020-11-11 /pmc/articles/PMC7732731/ /pubmed/33324516 http://dx.doi.org/10.7759/cureus.11433 Text en Copyright © 2020, Alkhars et al. http://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Neurology
Alkhars, Fatimah Z
Almajhad, Nabil
Al-Obaid, Jaafer
Alghadeer, Fatimah
Bo Ali, Ahmed Y
Spinal Muscular Atrophy and Communicating Hydrocephalus: A Novel or a Well-Established Rare Association?
title Spinal Muscular Atrophy and Communicating Hydrocephalus: A Novel or a Well-Established Rare Association?
title_full Spinal Muscular Atrophy and Communicating Hydrocephalus: A Novel or a Well-Established Rare Association?
title_fullStr Spinal Muscular Atrophy and Communicating Hydrocephalus: A Novel or a Well-Established Rare Association?
title_full_unstemmed Spinal Muscular Atrophy and Communicating Hydrocephalus: A Novel or a Well-Established Rare Association?
title_short Spinal Muscular Atrophy and Communicating Hydrocephalus: A Novel or a Well-Established Rare Association?
title_sort spinal muscular atrophy and communicating hydrocephalus: a novel or a well-established rare association?
topic Neurology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7732731/
https://www.ncbi.nlm.nih.gov/pubmed/33324516
http://dx.doi.org/10.7759/cureus.11433
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