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CC BY-NC-ND 4.0 · Journal of Health and Allied Sciences NU 2014; 04(03): 121-123
DOI: 10.1055/s-0040-1703818
Case Report

DEVELOPMENTAL DELAY IN CHILDHOOD CATARACT: A CAVEAT MARINESCO-SJÖGREN SYNDROME

Rathika D. Shenoy
1   Professor, Department of Paediatrics, K.S. Hegde Medical Academy, Nitte University, Mangalore - 575 018
,
Deepthi R. V.
2   Assistant Professor, Department of Paediatrics, K.S. Hegde Medical Academy, Nitte University, Mangalore - 575 018
,
Nutan Kamath
3   Professors, Department of Paediatrics, Kasturba Medical College Mangalore, Manipal University, Mangalore - 575 002, Karnataka, India.
,
Sumana J. Kamath
4   Professors, Department of Ophthalmology, Kasturba Medical College Mangalore, Manipal University, Mangalore - 575 002, Karnataka, India.
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Abstract

We report on a child with Marinesco-Sjögren Syndrome, a rare autosomal recessive disorder characterised by early onset cataract, psychomotor delay, cerebellar hypoplasia and myopathy. The presentation, neuro-imaging and muscle biopsy features are discussed.

Keywords

Cerebellar hypoplasia - Growth failure - Hypotonia - Myopathy


Publication History

Article published online:
26 April 2020

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  • References

  • 1 Krishnamurthy R, Vanderveen DK. Infantile cataracts. Int Ophthalmol Clin 2008; 48(2):175-92.
  • 2 Anttonen AK, Lahesjoki AE. GeneReviews: Marinesco-Sjögren syndrome. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1192/. Accessed on: 19.02.2011.
  • 3 Kalaydjieva L. Congenital cataracts-facial dysmorphism-neuropathy. Orphanet Journal of Rare Diseases 2006; 1:32.
  • 4 Senderek J1, Krieger M, Stendel C, Bergmann C, Moser M, Breitbach- Faller N, Rudnik-Schöneborn S, Blaschek A, Wolf NI, Harting I, North K, Smith J, Muntoni F, Brockington M, Quijano-Roy S, Renault F, Herrmann R, Hendershot LM, Schröder JM, Lochmüller H, Topaloglu H, Voit T, Weis J, Ebinger F, Zerres K.. Mutations in SIL1 cause Marinesco- Sjögren syndrome, a cerebellar ataxia with cataract and myopathy. Nat Genet 2005; 37:1312-4.
  • 5 Mahjneh I1Anttonen AK, Somer M, Paetau A, Lehesjoki AE, Somer H, Udd B. Myopathy is a prominent feature in Marinesco-Sjögren syndrome: A muscle computed tomography study. J Neurol 2006; 253(3):301-6.
  • 6 Tachi N, Nagata N, Wakai S, Chiba S. Congenital muscular dystrophy in Marinesco-Sjögren syndrome. Pediatr Neurol 1991; 7(4):296-8.
  • 7 Goto Y, Komiyama A, Tanabe Y, Katafuchi Y, Ohtaki E, Nonaka I. Myopathy in Marinesco-Sjögren syndrome: an ultrastuctural study. Acta Neuropathol 1990; 80(2):123-8.
  • 8 Minami K, Sata T, Shigematsu A. General anaesthesia for Marinesco- Sjögren syndrome. J Anesth 1994; 8(2):224-6.