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Ehlers Danlos syndrome--masquerading as primary muscle disease
G Banerjee1, R K Agarwal, N M Shembesh
1Department of Pediatrics, Faculty of Medicine, Al-Arab Medical University, Benghazi, Libya.
Postgraduate Medical Journal
|February 1, 1988
Insights
A Libyan boy
Area of Science:
- Pediatric Neurology
- Clinical Genetics
- Dermatology
Background:
- Delayed motor development and gait abnormalities are common pediatric concerns.
- Autosomal recessive inheritance patterns can affect multiple family members.
Observation:
- A 9-year-old boy presented with hypotonia and muscle under-development, initially suggesting a primary muscle disease.
- Subsequent examination revealed hyperelastic, fragile skin and hypermobile joints.
Findings:
- The patient's cardinal features were consistent with Ehlers-Danlos syndrome.
- The clinical presentation suggested an autosomal recessive inheritance pattern for this case.
Implications:
- This case highlights the importance of considering connective tissue disorders in children with developmental delays.
- Recognizing Ehlers-Danlos syndrome early is crucial for appropriate management and genetic counseling.
- Autosomal recessive inheritance should be considered in the differential diagnosis of Ehlers-Danlos syndrome.
Abstract:
A 9 year old Libyan boy presented with a history of delayed walking and abnormal gait. The presence of marked muscle under-development with hypotonia led to the initial diagnosis of primary muscle disease; later, he was found to have hyperelastic, fragile skin and hypermobile joints-the cardinal features of Ehlers Danlos syndrome. In this instance the disease seems to have been inherited in an autosomal recessive manner.