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[A case of facioscapulohumeral muscular dystrophy with infantile spasms, sensorineural deafness and retinal vessel
Insights
This study details a rare case of facioscapulohumeral dystrophy (FSHD) presenting with epilepsy and infantile spasms, alongside typical symptoms. This suggests epilepsy may be a central nervous system manifestation of FSHD.
Area of Science:
- Neurology
- Genetics
- Dermatology
Background:
- Facioscapulohumeral dystrophy (FSHD) is a progressive muscle disorder.
- While cognitive impairment is known, neurological complications like epilepsy are rarely reported in FSHD patients.
Observation:
- An 18-year-old female with FSHD presented with sensorineural deafness, retinal abnormalities, intellectual disability, and epilepsy.
- She experienced infantile spasms at 6 months and progressive muscle weakness from age 3, notably affecting facial, neck, and trunk muscles, leading to lordosis.
Findings:
- The patient exhibited a unique combination of FSHD symptoms, including infantile spasms and epilepsy, which have not been previously documented together.
- This case highlights the potential for central nervous system involvement in FSHD beyond intellectual disability.
Implications:
- Epilepsy and infantile spasms may represent previously unrecognized central nervous system manifestations of facioscapulohumeral dystrophy.
- Further research into the neurological spectrum of FSHD is warranted to understand these complex presentations.
Abstract:
We report an 18-year-old female with facioscapulohumeral dystrophy (FSHD), who had sensorineural deafness, retinal vessel abnormality, mental retardation, and epilepsy. She had infantile spasms at 6 months of age. Muscle atrophy and weakness of facial muscles were first noticed at 3 years of age. From 10 years of age, she had rapidly progressive generalized muscle weakness especially of facial, neck and truncal muscles with marked lordosis. Although mental retardation is commonly complicated with FSHD, infantile spasms or epilepsy has never been reported. Not only mental retardation but epilepsy may be one of the central nervous system symptoms in a systemic disorder, FSHD.