Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies.
Megaconial congenital muscular dystrophy (OMIM 602541) is characterized with early-onset hypotonia, muscle wasting, proximal weakness, cardiomyopathy, mildly elevated serum creatine kinase (CK) levels, and mild-to-moderate intellectual disability. We report two siblings in a consanguineous family admitted for psychomotor delay. Physical examination revealed proximal muscle weakness, contractures in the knee of elder sibling, diffuse mild generalized muscle atrophy, and dry skin with ichthyosis together with multiple nummular eczema in both siblings. Serum CK values were elevated up to 500 U/L. For genetic work-up, we performed whole exome sequencing (WES) after Nimblegen enrichment on the Illumina platform. The WES revealed a novel homozygous missense mutation in the Choline Kinase-Beta (CHKB) gene c.1031G>A (p.R344Q) in exon 9. Ichthyosis-like skin changes with intense pruritus and nummular eczema may lead to clinical diagnosis in cases with megaconial congenital muscular dystrophy.
Division of Child Neurology, Department of Pediatrics, School of Medicine, Dokuz Eylül University, 35340 İzmir, Turkey.
Uluç
U
Yis
İzmir Tepecik Training and Research Hospital, Division of Child Neurology, 35040 İzmir, Turkey.
Figen
F
Baydan
University Hospital of Cologne, Institute of Human Genetics, 50931 Cologne, Germany.
Mert
M
Karakaya
Division of Child Neurology, Department of Pediatrics, School of Medicine, Dokuz Eylül University, 35340 İzmir, Turkey.
Semra
S
Hız Kurul
University Hospital of Cologne, Institute of Human Genetics, 50931 Cologne, Germany; University Hospital of Cologne, Department of Pediatrics, 50931 Cologne, Germany; Center for Molecular Medicine, 50931 Cologne, Germany.
Sebahattin
S
Cirak
D002648:Child; D002675:Child, Preschool; D002797:Choline Kinase / Q000235:genetics*; D003937:Diagnosis, Differential; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007057:Ichthyosis / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D017240:Mitochondrial Myopathies / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation; D011537:Pruritus / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D011596:Psychomotor Disorders / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D035781:Siblings
C542592:CHKB protein, human; D002797:Choline Kinase