Marinesco-Sjogren Syndrome

Clinical Characteristics
Ocular Features: 

Congenital cataracts are one of the cardinal features of Marinesco-Sjogren syndrome but lens opacities may have a later onset and may be progressive as well.  Strabismus and nystagmus are sometimes present.

Systemic Features: 

Non-ocular features include cerebellar atrophy, psychomotor developmental delays, mental retardation, and muscle weakness.  Dysarthria is common.  The myopathy has its onset in childhood and is progressive with weakness, hypotonia, and atrophy eventually leading to total disability in some cases.  Progression of motor dysfunction may, however, stabilize in some patients but at an unpredictable level.  Infants are often 'floppy babies'.  MRI studies reveal cerebellar atrophy.  Serum creatine kinase levels are increased and muscle biopsies show chronic myopathic changes.  Skeletal features include short stature, pectus carinatum, and secondary kyphoscoliosis and foot deformities.  Bone abnormalities may be seen in the digits.

Genetics

This is an autosomal recessive condition resulting from mutations in the SIL1 gene (5q31).  It is sometimes confused with the condition known as congenital cataracts, facial dysmorphism, and neuropathy (604168) with which it shares some clinical features.  The two conditions are genetically distinct since they are caused by mutations in different genes.

See also Muscular Dystrophy, Congenital Cataracts, with Cataracts and Intellectual Disability for a similar disorder caused by a different mutation.

Treatment
Treatment Options: 

Visually significant cataracts may need to be removed in the first decade of life.  Skeletal deformities may benefit from surgery and hormone therapy should be considered in specific cases.

References
Article Title: 

The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone

Anttonen AK, Mahjneh I, Hamalainen RH, Lagier-Tourenne C, Kopra O, Waris L, Anttonen M, Joensuu T, Kalimo H, Paetau A, Tranebjaerg L, Chaigne D, Koenig M, Eeg-Olofsson O, Udd B, Somer M, Somer H, Lehesjoki AE. The gene disrupted in Marinesco-Sjogren syndrome encodes SIL1, an HSPA5 cochaperone. Nat Genet. 2005 Dec;37(12):1309-11.

PubMed ID: 
16282978

Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjogren syndrome

Lagier-Tourenne C, Chaigne D, Gong J, Flori J, Mohr M, Ruh D, Christmann D, Flament J, Mandel JL, Koenig M, Dollfus H. Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjogren syndrome. J Med Genet. 2002 Nov;39(11):838-43.

PubMed ID: 
12414825

References

Anttonen AK, Mahjneh I, Hamalainen RH, Lagier-Tourenne C, Kopra O, Waris L, Anttonen M, Joensuu T, Kalimo H, Paetau A, Tranebjaerg L, Chaigne D, Koenig M, Eeg-Olofsson O, Udd B, Somer M, Somer H, Lehesjoki AE. The gene disrupted in Marinesco-Sjogren syndrome encodes SIL1, an HSPA5 cochaperone. Nat Genet. 2005 Dec;37(12):1309-11.

PubMedID: 16282978

Lagier-Tourenne C, Chaigne D, Gong J, Flori J, Mohr M, Ruh D, Christmann D, Flament J, Mandel JL, Koenig M, Dollfus H. Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjogren syndrome. J Med Genet. 2002 Nov;39(11):838-43.

PubMedID: 12414825

Merlini L, Gooding R, Lochmuller H, Muller-Felber W, Walter MC, Angelicheva D, Talim B, Hallmayer J, Kalaydjieva L. Genetic identity of Marinesco-Sjogren/myoglobinuria and CCFDN syndromes. Neurology. 2002 Jan 22;58(2):231-6.

PubMedID: 11805249