Marinesco Sjogren syndrome : a case report

Area of Science:

• Genetics
• Neurology
• Ophthalmology

Background:

• Marinesco Sjogren syndrome (MSS) is a rare, autosomal recessive neurodegenerative disorder.
• Clinical manifestations typically include cerebellar ataxia, congenital cataracts, and intellectual disability.

Purpose of the Study:

• To report three cases of MSS within a single family.
• To highlight the characteristic clinical features of the syndrome.

Main Methods:

• Clinical case reporting.
• Review of patient medical histories and diagnostic findings.

Main Results:

• All three affected family members presented with mental retardation.
• Congenital bilateral cataracts were observed in all cases.
• Cerebellar ataxia was a consistent finding across the affected individuals.

Conclusions:

• This family case series underscores the genetic basis and phenotypic consistency of Marinesco Sjogren syndrome.
• Early diagnosis and genetic counseling are crucial for families with this rare disorder.