PropertyValue
?: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.
is ?:annotates of
?:creator
?:doi
  • 10.7759/cureus.11433
?:doi
?:journal
  • Cureus
?:license
  • cc-by
?:pdf_json_files
  • document_parses/pdf_json/8af4b93b2cc8f3a49ef098ed198cc1285a669cd8.json
?:pmc_json_files
  • document_parses/pmc_json/PMC7732731.xml.json
?:pmcid
?:pmid
?:pmid
  • 33324516.0
?:publication_isRelatedTo_Disease
is ?:relation_isRelatedTo_publication of
?:sha_id
?:source
  • Medline; PMC
?:title
  • Spinal Muscular Atrophy and Communicating Hydrocephalus: A Novel or a Well-Established Rare Association?
?:type
?:year
  • 2020-11-11

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