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J Pediatr Intensive Care 2018; 07(03): 159-162
DOI: 10.1055/s-0037-1617434
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Distal Spinal Muscular Atrophy: An Overlooked Etiology of Weaning Failure in Children with Respiratory Insufficiency

Mojdeh Habibi Zoham
1   Department of Pediatric Intensive Care Unit, Bahrami Children's Hospital, Tehran University of Medical Sciences, Tehran, Islamic Republic of Iran
,
Asgar Eghbalkhah
1   Department of Pediatric Intensive Care Unit, Bahrami Children's Hospital, Tehran University of Medical Sciences, Tehran, Islamic Republic of Iran
,
Kamyar Kamrani
2   Department of Neonatal Intensive Care Unit, Bahrami Children's Hospital, Tehran University of Medical Sciences, Tehran, Islamic Republic of Iran
,
Nahid Khosroshahi
3   Department of Pediatric Neurology, Bahrami Children's Hospital, Tehran University of Medical Sciences, Tehran, Islamic Republic of Iran
,
Hossein Yousefimanesh
1   Department of Pediatric Intensive Care Unit, Bahrami Children's Hospital, Tehran University of Medical Sciences, Tehran, Islamic Republic of Iran
,
Zahra Eskandarizadeh
1   Department of Pediatric Intensive Care Unit, Bahrami Children's Hospital, Tehran University of Medical Sciences, Tehran, Islamic Republic of Iran
› Author Affiliations
Further Information

Publication History

21 October 2017

01 December 2017

Publication Date:
04 January 2018 (online)

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Abstract

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disorder that involves the anterior horn motor neurons. It is a disease with a poor prognosis presenting with progressive distal motor weakness and respiratory insufficiency from diaphragmatic paralysis followed by distal muscle weakness before 6 months of age. With the intent to spread the awareness of this rare and life-threatening disease, we report a 2.5-month-old female infant with a subsequent diagnosis of SMARD1, who was admitted in our pediatric intensive care unit with chief complaint of progressive respiratory distress and poor feeding.

Keywords

respiratory insufficiency - spinal muscular atrophy - diaphragmatic paralysis
 

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