Catastrophic autonomic crisis with cardiovascular collapse in spinal muscular atrophy with respiratory distress type 1.
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare motor neuron disease that can result in dysautonomia but is usually only mildly symptomatic. We report a young girl with SMARD1 who had a catastrophic autonomic crisis with resultant permanent brain damage during an interhospital transfer. Although she was only mildly symptomatic prior to the transfer, in retrospect, her baseline autonomic function analysis had sympathetic hyperactivity without a typical circadian rhythm, indicating the presence of severe underlying dysautonomia. Because this underlying dysautonomia seemed markedly aggravated by the psychological stress, careful autonomic evaluation and management are warranted in patients with SMARD1.
Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
Toshihiro
T
Nomura
Toshiki
T
Takenouchi
Hiroyuki
H
Fukushima
Sachiko
S
Shimozato
Kenjiro
K
Kosaki
Takao
T
Takahashi
D001342:Autonomic Nervous System Diseases / Q000209:etiology*; D002318:Cardiovascular Diseases / Q000150:complications* / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D009134:Muscular Atrophy, Spinal / Q000150:complications* / Q000235:genetics; D012127:Respiratory Distress Syndrome, Newborn / Q000150:complications* / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics
D004268:DNA-Binding Proteins; C489892:IGHMBP2 protein, human; D014157:Transcription Factors