Marinesco-Sjogren syndrome
Overview
Marinesco-Sjögren syndrome is a condition that has a variety of signs and symptoms affecting many tissues. People with Marinesco-Sjögren syndrome have clouding of the lens of the eyes (cataracts) that usually develops soon after birth or in early childhood. Affected individuals also have muscle weakness (myopathy) and difficulty coordinating movements (ataxia), which may impair their ability to walk. People with Marinesco-Sjögren syndrome may experience further decline in muscle function later in life. Most people with Marinesco-Sjögren syndrome have mild to moderate intellectual disability. They also have skeletal abnormalities including short stature and a spine that curves to the side (scoliosis). Other features of Marinesco-Sjögren syndrome include eyes that do not look in the same direction (strabismus), involuntary eye movements (nystagmus), and impaired speech (dysarthria).
Symptoms
* Cerebellar ataxia * Congenital cataract * Delayed psychomotor development * Dysarthria * Nystagmus
Diagnosis
Diagnosis of MSS is based on clinical symptoms, magnetic resonance imaging (MRI) of the brain (cerebellar atrophy particularly involving the cerebellar vermis), and muscle biopsy. It can be associated with mutations of the SIL1 gene, and a mutation can be found in about 50% of cases. Differential diagnosis includes Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN), Marinesco-Sjogren like syndrome with chylomicronemia, carbohydrate deficient glycoprotein syndromes, Lowe syndrome, and mitochondrial disease.
Prognosis
The 'prognosis' of Marinesco-Sjogren syndrome usually refers to the likely outcome of Marinesco-Sjogren syndrome. The prognosis of Marinesco-Sjogren syndrome may include the duration of Marinesco-Sjogren syndrome, chances of complications of Marinesco-Sjogren syndrome, probable outcomes, prospects for recovery, recovery period for Marinesco-Sjogren syndrome, survival rates, death rates, and other outcome possibilities in the overall prognosis of Marinesco-Sjogren syndrome. Naturally, such forecast issues are by their nature unpredictable.
Treatment
Treatment for MSS is symptomatic and supportive including physical and occupational therapy, speech therapy, and special education. Cataracts must be removed when vision is impaired, generally in the first decade of life. Hormone replacement therapy is needed if hypogonadism is present.