title: Infantile spinal muscular atrophy with respiratory distress type 1: a case report.
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 mu-binding protein 2 (IGHMBP2 gene), of this autosomal recessive disorder is located on chromosome 11q13 and encodes immunoglobulin mu-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.
authors.affiliation: Department of Pediatric Neurology, King Fahad Medical City, Riyadh 11525, Kingdom of Saudi Arabia. aalsaman@kfmc.med.sa
authors.forename: Abdulaziz
authors.initials: A
authors.lastname: AlSaman
authors.forename: Hoda
authors.initials: H
authors.lastname: Tomoum
mesh_terms: D004268:DNA-Binding Proteins / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D018482:Muscle, Skeletal / Q000473:pathology; D010375:Pedigree; D012529:Saudi Arabia; D014897:Spinal Muscular Atrophies of Childhood / Q000235:genetics* / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C489892:IGHMBP2 protein, human; D014157:Transcription Factors