Annals of Indian Academy of Neurology
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Year : 2020  |  Volume : 23  |  Issue : 5  |  Page : 694-696

A rare cause of autism spectrum disorder: Megaconial muscular dystrophy

1 Antalya Training and Research Hospital, Pediatric Neurology Clinic, Ankara, Turkey
2 Antalya Training and Research Hospital, Pediatrics Clinic, Ankara, Turkey
3 Ankara University Faculty of Medicine, Department of Pediatric Neurology, Ankara, Turkey

Correspondence Address:
Gultekin Kutluk
Antalya Training and Research Hospital Pediatric Neurology Clinic, Antalya 07100
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/aian.AIAN_98_19

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Megaconial congenital muscular dystrophy (OMIM 602541) is defined by early-onset hypotonia, mildly elevated serum creatine kinase (CK) levels, muscle wasting, cardiomyopathy, psychomotor developmental delay and intellectual disability. The disease is caused by loss-of-function mutations in Choline kinase beta gene (CHKB) and has specific muscle biopsy findings. Here we investigate two patients with weakness of proximal muscles and generalized muscle atrophy, skin changes, agressiveness, social communication and empathy difficulties. Both patients had mildly elevated serum CK levels. Whole exome sequencing (WES) performed for both patients and homozygous c.818+1G>A and homozygous c.1031+1G>A variants were detected in patient 1 and patient 2, respectively. We would like to draw the attention of autism spectrum disorder in early diagnosis of congenital muscular dystrophies.

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