Spinal Muscular Atrophy With Respiratory Distress Type 1—A Child With Atypical Presentation

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. Th...

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Bibliographic Details
Published in:Child neurology open 2018, Vol.5, p.2329048X18769811
Main Authors: Chiu, Annie Ting Gee, Chan, Sophelia Hoi Shan, Wu, Shun Ping, Ting, Shun Hin, Chung, Brian Hon Yin, Chan, Angel On Kei, Wong, Virginia Chun Nei
Format: Article
Language:English
Subjects:
Atrophy
Case Report
Congestive heart failure
Coronary artery disease
Electromyography
Frameshift mutation
Genetic counseling
Heart surgery
Hypothyroidism
Microencephaly
Mutation
Nerve conduction
Neuromuscular diseases
Paralysis
Polyneuropathy
Sensorimotor system
Spinal muscular atrophy
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Summary: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.
ISSN:2329-048X
2329-048X
DOI:10.1177/2329048X18769811