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Article: Spinal Muscular Atrophy With Respiratory Distress Type 1—A Child With Atypical Presentation
Title | Spinal Muscular Atrophy With Respiratory Distress Type 1—A Child With Atypical Presentation |
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Authors | |
Issue Date | 2018 |
Publisher | SAGE Publications (UK and US): Open Access Titles. The Journal's web site is located at http://journals.sagepub.com/home/cno |
Citation | Child Neurology Open, 2018, v. 5, p. 1-6 How to Cite? |
Abstract | The authors report a child with spinal muscular atrophy with respiratory distress type 1 (SMARD1). She presented atypically with hypothyroidism and heart failure due to septal defects that required early heart surgery and microcephaly in association with cerebral atrophy and thin corpus collosum. The subsequent asymmetrical onset of diaphragmatic paralysis, persistent hypotonia, and generalized muscle weakness led to the suspicion of spinal muscular atrophy with respiratory distress type 1. Sanger sequencing confirmed a compound heterozygous mutation in the Immunoglobulin Mu Binding Protein 2 (IGHMBP2) gene, with a known mutation c.2362C > T (p.Arg788*) and a novel frameshift mutation c.2048delG (p.Gly683A1afs*50). Serial nerve conduction study and electromyography confirmed progressive sensorimotor polyneuropathy and neuronopathy. In summary, this case report describes a child with spinal muscular atrophy with respiratory distress type 1 also with congenital cardiac disease and endocrine dysfunction, expanding the phenotypic spectrum of this condition. A high index of suspicion is needed in diagnosing this rare condition to guide the management and genetic counseling. |
Persistent Identifier | http://hdl.handle.net/10722/260558 |
ISSN |
DC Field | Value | Language |
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dc.contributor.author | Chiu, ATG | - |
dc.contributor.author | Chan, HSS | - |
dc.contributor.author | Wu, SP | - |
dc.contributor.author | Ting, SH | - |
dc.contributor.author | Chung, BHY | - |
dc.contributor.author | Chan, AOK | - |
dc.contributor.author | Wong, CNV | - |
dc.date.accessioned | 2018-09-14T08:43:42Z | - |
dc.date.available | 2018-09-14T08:43:42Z | - |
dc.date.issued | 2018 | - |
dc.identifier.citation | Child Neurology Open, 2018, v. 5, p. 1-6 | - |
dc.identifier.issn | 2329-048X | - |
dc.identifier.uri | http://hdl.handle.net/10722/260558 | - |
dc.description.abstract | The authors report a child with spinal muscular atrophy with respiratory distress type 1 (SMARD1). She presented atypically with hypothyroidism and heart failure due to septal defects that required early heart surgery and microcephaly in association with cerebral atrophy and thin corpus collosum. The subsequent asymmetrical onset of diaphragmatic paralysis, persistent hypotonia, and generalized muscle weakness led to the suspicion of spinal muscular atrophy with respiratory distress type 1. Sanger sequencing confirmed a compound heterozygous mutation in the Immunoglobulin Mu Binding Protein 2 (IGHMBP2) gene, with a known mutation c.2362C > T (p.Arg788*) and a novel frameshift mutation c.2048delG (p.Gly683A1afs*50). Serial nerve conduction study and electromyography confirmed progressive sensorimotor polyneuropathy and neuronopathy. In summary, this case report describes a child with spinal muscular atrophy with respiratory distress type 1 also with congenital cardiac disease and endocrine dysfunction, expanding the phenotypic spectrum of this condition. A high index of suspicion is needed in diagnosing this rare condition to guide the management and genetic counseling. | - |
dc.language | eng | - |
dc.publisher | SAGE Publications (UK and US): Open Access Titles. The Journal's web site is located at http://journals.sagepub.com/home/cno | - |
dc.relation.ispartof | Child Neurology Open | - |
dc.rights | This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. | - |
dc.title | Spinal Muscular Atrophy With Respiratory Distress Type 1—A Child With Atypical Presentation | - |
dc.type | Article | - |
dc.identifier.email | Chan, HSS: sophehs@hku.hk | - |
dc.identifier.email | Chung, BHY: bhychung@hku.hk | - |
dc.identifier.email | Wong, CNV: vcnwong@hku.hk | - |
dc.identifier.authority | Chan, HSS=rp02210 | - |
dc.identifier.authority | Chung, BHY=rp00473 | - |
dc.identifier.authority | Wong, CNV=rp00334 | - |
dc.description.nature | published_or_final_version | - |
dc.identifier.doi | 10.1177/2329048X18769811 | - |
dc.identifier.hkuros | 290500 | - |
dc.identifier.volume | 5 | - |
dc.identifier.spage | 1 | - |
dc.identifier.epage | 6 | - |
dc.publisher.place | United States | - |
dc.identifier.issnl | 2329-048X | - |