Short Stature in a Girl with Muscular Dystrophy: Double Jeopardy!

Excerpt

A 10-y-old girl presented with progressive proximal muscle weakness since 3 y of age, leading to non-ambulation by 9 y. She had an uneventful perinatal period and no significant family history. Clinical examination revealed short stature, short neck, and low posterior hairline. Also, she had selective hypertrophy of bilateral calf muscles, deltoid, and infraspinatus (Fig. 1). She had a highly elevated creatinine kinase. Initially, the possibility of thyroid-associated myopathy with pseudohypertrophy (Kocher-Debre-Semelaigne syndrome) was considered. However, thyroid function tests were normal. Subsequently, she was worked up for the possibility of Turner syndrome. Ovaries could not be visualized on ultrasonography; karyotyping revealed monosomy of the X-chromosome (45XO) (Fig. 2). Multiplex ligation probe assay revealed a deletion of exons 45 to 50 in the dystrophin gene, confirming the diagnosis of Duchenne muscular dystrophy (DMD) with Turner syndrome. She was initiated on physiotherapy and oral prednisolone. Echocardiography was normal.

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