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A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran

Authors Shervin Badv R, Nilipour Y, Rahimi-Dehgolan S, Rashidi-Nezhad A, Ghahvechi Akbari M

Received 18 January 2019

Accepted for publication 9 April 2019

Published 30 May 2019 Volume 2019:12 Pages 155—159


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 2

Editor who approved publication: Professor Ronald Prineas

Reza Shervin Badv,1 Yalda Nilipour,2 Shahram Rahimi-Dehgolan,3 Ali Rashidi-Nezhad,4 Masood Ghahvechi Akbari5

1Children’s Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences (TUMS), Tehran, Iran; 2Pediatric Pathology Research center, Research Institute for Children Health, Mofid Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran; 3Physical Medicine and Rehabilitation Department, Imam Khomeini Hospital Complex (IKHC), Tehran University of Medical Sciences (TUMS), Tehran, Iran; 4Maternal, Fetal and Neonatal Research Center, Imam khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran; 5Physical Medicine and Rehabilitation Department, Children’s Medical Center, Tehran University of Medical Sciences (TUMS), Tehran, Iran

Abstract: Spinal muscular atrophy (SMA) is a disorder characterized by decreased motor function due to the muscle atrophy in the background of degenerated anterior horn cells and motor cells of lower cranial nerves nuclei. The most frequent form is inherited as an autosomal recessive trait resulting from mutations in the survival motor neuron gene (SMN-1). On the other hand, a rare variant of this condition, named progressive myoclonic epilepsy subtype (SMA-PME) occurs in the result of a mutation in N-acylsphingosine amidohydrolase-1 gene (ASAH-1). The latter gene is responsible for lysosomal acid-ceramidase production. SMA-PME has been characterized by a progressive muscle weakness from ages 3–7 years, accompanied by epilepsy, an intractable seizure, and sometimes sensorineural hearing loss. In this report, we have presented a 15-year old female patient with SMA-PME that was attended to neurology clinic for a new onset tremor, seizure and proximal weakness in all limbs. We identified a homozygous mutation in exon II on her ASAH-1 gene [c.173C>T (p. Thr58Met)]. Also, a modest reduction was found in ceramidase-activity. As was expected patient`s seizures did not respond to conventional therapies.

Keywords: muscular atrophy, case report, myoclonic epilepsies, seizures
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