[Marinescu-Sjogren syndrome--case report]

Area of Science:

• Genetics
• Neurology
• Ophthalmology

Background:

• Marinesco-Sjogren Syndrome (MSS) is a rare autosomal recessive disorder.
• MSS is characterized by cerebellar ataxia, congenital cataracts, and psychomotor retardation.

Observation:

• A 5-year-old girl diagnosed with MSS at age 2 presented with congenital cataracts, convergent strabismus, cerebellar ataxia, and global developmental delay.
• The patient underwent cataract surgery and is scheduled for strabismus correction.
• Her brother presents with the same condition, suggesting a familial inheritance pattern.

Findings:

• The case highlights the key clinical manifestations of MSS.
• Visual impairments, including cataracts and strabismus, are significant early-onset features.
• Cerebellar ataxia and delayed maturation are core neurological and developmental components.

Implications:

• Understanding the pathogenetic elements of MSS is crucial for diagnosis and management.
• Identifying visual and neurological prognostic factors aids in patient care and long-term planning.
• This case contributes to the literature on MSS, emphasizing the importance of early intervention and genetic counseling.