This case report describes a potentially specific nosological entity involving facioscapulohumeral muscular dystrophy, mental retardation, hearing loss, and retinal arteriole tortuosity.
Supports recognition of this rare FSHD-associated constellation; hypothesis-generating and requires replication before nosological adoption.
A rare case of facioscapulohumeral muscular dystrophy with an early onset and progression is described. The patient had mental retardation, sensorineural hearing loss, and marked tortuosity of the retinal arterioles. On reviewing previous reports of related cases, our case and those of Small shared similar clinical manifestations, although the retinal findings in our patient were different from the typical Coats' disease of Small's patients. However, we postulate that these cases represent a specific nosological entity, although genetic transmission has yet to be proven.
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Matsuzaka et al. (1986) studied this question.
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