Marinesco-Sjögren syndrome in a Bedouin family

• Published in: Acta neurologica Scandinavica Vol. 96; no. 6; pp. 387 - 391
• Main Authors: Farah, S., Sabry, M. A., Khuraibet, A. J., Anim, J. T., Quasrawi, B., Al-Khatam, S., Al-Busairi, W., Hussein, J. M., Khan, R. A., Al-Awadi, S. A.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.12.1997; Blackwell
• Subjects: Abnormalities, Multiple - ethnology; Abnormalities, Multiple - pathology; Abnormalities, Multiple - physiopathology; Adult; Arabs; Atrophy; Biological and medical sciences; Consanguinity; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Electromyography; EMG; Ethnic Groups; Family Health; Humans; Male; Marinesco-Sjogren; Medical sciences; metatarsals; Muscle, Skeletal - pathology; Muscle, Skeletal - physiopathology; myopathy; Nerve Degeneration; Neural Conduction; Neurology; neuropathy; Spinocerebellar Degenerations - ethnology; Spinocerebellar Degenerations - pathology; Spinocerebellar Degenerations - physiopathology; Toes - abnormalities; Human; Nervous system diseases; Diseases of the osteoarticular system; Shortening; Male; Marinesco Sjögren syndrome; Sibling; Metatarsus; Cerebral disorder; Genetic disease; Case study; Pathology; Electrodiagnosis; Eye disease; Arabic; Malformation; Biopsy; Central nervous system disease; Young adult; Degenerative disease; Diagnosis; Spinal cord disease; Sural nerve
• ISSN: 0001-6314; 1600-0404
• DOI: 10.1111/j.1600-0404.1997.tb00303.x

Marinesco‐Sjögren syndrome is rarely reported in the Middle East. This is the 2nd report of Marinesco‐Sjögren syndrome in an Arab family. The clinical features of 2 affected brothers are described. Electrophysiological studies of the 2 patients showed primarily myopathic changes, whereas sural nerve biopsy revealed segmental demyelination and axonal degeneration. The role of tissue biopsy and the relationship to different electrophysiological studies are discussed. Both patients were noticed to have abnormally short lateral 3 metatarsals, a feature not present in other healthy members of the family. We suggest that this feature should be considered part of the syndrome profile.