Muscle-Eye-Brain Disease; a Rare Form of Syndromic Congenital Muscular Dystrophy
Journal Title: Malaysian Orthopaedic Journal - Year 2011, Vol 5, Issue 1
Abstract
Congenital muscular dystrophy (CMD) is a heterogeneous group of disorders characterized by muscular hypotonia since birth and the histologic features of muscular dystrophy. Syndromic congenital muscular dystrophies are clinically similar autosomal recessive disorders characterized by congenital muscular dystrophy, lissencephaly, and eye anomalies. We present a case of a rare form of syndromic congenital muscular dystrophy in an eight year old girl, born of firstdegree consanguinity. She had: global developmental delay; a seizure disorder; hypotonia; progressive muscle contractures including bilateral symmetrical flexion contractures of hips, knees, equinus contracture and thoracolumbar scoliosis; diminished deep tendon reflexes: bilateral premature cataract; pseudophakia; and nystagmus. The patient was also highly myopic. Based on clinical features, muscle biopsy and MRI of the brain, a diagnosis of muscle- eye- brain disease was made. Identification of these patients may help to prevent this crippling disorder in the future siblings of probands by utilizing genetic counselling and mutation analysis.
Authors and Affiliations
Gosal Gurinder S, Shah Hitesh H
Keywords
Related Articles
- EP ID EP301876
- DOI -
- Views 162
- Downloads 0
A Palmar Lipoma with Median and Ulnar Nerve Compressive Symptoms
Although lipoma is common in the upper limbs, it rarely occurs in the palm, and usually does not compress the surrounding structures. Here, we report a patient presenting with compressive neuropathy of the ulna and media...
Core Topics in Pain
The subject of pain and pain management is fundamental to the practice of medicine, more so in the specialty of orthopedics. This is a revised first paperback edition of the book that was first published in 2005. The bre...
Giant Epidermoid Cyst of the Thigh
Epidermoid cyst is a common benign cutaneous swelling frequently encountered in surgical practice. It usually presents as a painless lump frequently occurring in hairbearing areas of the body particularly the scalp, scro...
Curettage and Cementation in Giant Cell Tumour of the Distal Tibia Using Polypropylene Mesh for Containment: A Case Report
Giant cell tumours of bone are best treated by extended curettage and filling in of the defect with cement or bone graft. In more advanced stages, when there is extensive loss of cortical bone cover, containment of the f...
Minimally Invasive Osteosynthesis of Distal Tibia Fractures using Anterolateral Locking Plate
Introduction: Plating in distal tibia fractures are associated with higher rate of soft tissue complications. As adequate soft tissue cover is available over anterolateral surface of the tibia, use of anterolateral plate...