Résumé :
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Introduction: Rigid spine syndrome is a non specific term used to describe patients presenting early rigidity of the spine due to axial muscle contractures, muscle weakness, limb-joint contractures and often respiratory failure. It is seen in rigid spine muscular dystrophy type 1 (RSMD1) with mutations in the SEPN1 gene, and occasionally in Emery-Dreifuss muscular dystrophy, some congenital myopathies and in collagen VI related disorders. In the present study, we report the clinical, morphological and genetic analysis of a patient with rigid spine syndrome, short stature and microcephaly of unknown cause despite thorough investigations. Case report: This 14 year-old boy was initially followed in the neuropediatric clinic for severe microcephaly with normal cognitive development. He was born at term with in-utero growth retardation and walked at 16 months. When first seen at 35 months he had a Gowers’ sign with no other signs of weakness. His growth parameters always remained below the 3rd percentile. Rigid spine and muscular weakness were first noted at 8 years old. Thereafter he presented fairly rapidly progressive axial and proximal limb weakness, elbow and knees retractions, nasal speech and frequent low respiratory tract infections. Serum CK and brain MRI were normal. Muscle biopsy showed dystrophic changes and normal expression of all tested proteins on immunohistochemistry including emerin, alpha-dystroglycan and collagen VI. His echocardiogram showed a left ventricular function in the low normal limit. Respiratory function showed progressive restrictive disease and non-invasive ventilation is currently being started. No SEPN1 and LMNA gene mutations were found. Conclusion: To our knowledge the association of rigid spine syndrome, severe microcephaly (with normal intelligence and no brain abnormality) and short stature in a child with congenital muscular dystrophy has not been previously reported. Given the severity of the microcephaly, genetic testing for the alpha-dystroglycanopathy genes are planned in this patient.
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