Abstract
Marked ligamentous hyperlaxity and muscle weakness/wasting associated with awkward gait are the main deficits confused with the diagnosis of myopathy. Seven children (6 boys and 1 girl with an average age of 8 years) were referred to our department because of diverse forms of skeletal abnormalities. No definitive diagnosis was made, and all underwent a series of sophisticated investigations in other institutes in favor of myopathy. We applied our methodology through the clinical and radiographic phenotypes followed by targeted genotypic confirmation. Three children (2 boys and 1 girl) were compatible with the diagnosis of progressive pseudorheumatoid chondrodysplasia. The genetic mutation was correlated with the WISP 3 gene actively expressed by articular chondrocytes and located on chromosome 6. Klinefelter syndrome was the diagnosis in 2 boys. Karyotyping confirmed 47,XXY (aneuploidy of Klinefelter syndrome). And 2 boys were finally diagnosed with Morquio syndrome (MPS type IV A) as both showed missense mutations in the N-acetylgalactosamine-sulfate sulfatase gene. Misdiagnosis can lead to the initiation of a long list of sophisticated investigations.
Highlights
The differential diagnosis of myopathy is broad and includes conditions that present with abnormal gait, muscle weakness, and serum creatine kinase elevation or any combination of these findings
Swellings, and stiffness of the joints are characteristics; the findings are mistaken for juvenile rheumatoid arthritis, with absence inflammatory parameters.[4]
Klinefelter syndrome is defined as a group of chromosomal disorders in which there is at least one extra X chromosome compared with the normal 46,XY male karyotype
Summary
The differential diagnosis of myopathy is broad and includes conditions that present with abnormal gait, muscle weakness, and serum creatine kinase elevation or any combination of these findings. The disorder is classified as an autosomal, recessively inherited chondrodysplasia, with absence of inflammatory parameters. Swellings, and stiffness of the joints are characteristics; the findings are mistaken for juvenile rheumatoid arthritis, with absence inflammatory parameters.[4]. Klinefelter syndrome is defined as a group of chromosomal disorders in which there is at least one extra X chromosome compared with the normal 46,XY male karyotype. Thin-built males with eunuchoid appearance and a slightly underdeveloped penis and gynecomastia with mild mental retardation are the main characteristics of Klinefelter syndrome.[5,6]
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