Senior Loken syndrome with Atypical Retinitis Pigmentosa: a rare manifestation of rare disease

Authors

  • Madhura S. Department of Pediatrics, Mysore Medical College, Mysore, Karnataka, India
  • Sowrabha . Department of Pediatrics, Mysore Medical College, Mysore, Karnataka, India
  • Manjunath . Department of Pediatrics, Mysore Medical College, Mysore, Karnataka, India
  • Savitha M. R. Department of Pediatrics, Mysore Medical College, Mysore, Karnataka, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20180573

Keywords:

Atypical retinitis pigmentosa, Nephronopthisis, Senior loken syndrome

Abstract

Senior Loken syndrome is an autosomal recessive condition characterized by combination of nephronophthisis and retinal degeneration. The earliest presenting features include polyuria and polydipsia secondary to impaired urinary concentrating ability. Nephronophthisis progresses to end stage kidney disease (ESKD) during second decade. The treatment of choice for ESKD due to nephronophthisis is renal transplantation. Retinal lesions are variable ranging from severe infantile onset retinal dystrophy to more typical retinitis pigmentosa. There is a spectrum of other features associated with this condition including skeletal, dermatological and cerebellar anomalies. Till date very few cases have been reported due to lack of awareness of this rare condition. Here, we report a case of Senior loken syndrome with atypical retinitis pigmentosa in a 14-year-old boy.

References

Senior B, Friedmann AI, Braudo JL. Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy. Am J Ophthalmol. 1961;52:625-33.

Loken AC, Hanssen O, Halvorsen S, Jolster NJ. Hereditary renal dysplasia and blindness. Acta Paediatr. 1961;50:177-84.

Hildebrandt F, Zhou W. Nephronophthisis associated ciliopathies. J Am Soc Nephrol. 2007;18:1855-71.

Salomon R, Saunier S, Niaudet P. Nephronophthisis. Pediatr Nephrol. 2009;24:2333-44.

Otto EA, Tory K, Attanasio M, Zhou W, Chaki M, Paruchuri Y, et al. Hypomorphic mutations in the meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). J Med Genetics. 2009;46(10):663-70.

Saunier S, Salomon R, Antignac C. Nephronophthisis. Curr Opin Genet Dev. 2005;15(3):324-31.

Gusmano R, Ghiggeri GM, Caridi G. Nephronophthisis-medullary cystic disease: clinical and genetic aspects. J Nephrol. 1998;11(5):224-8.

Hildebrandt F, Strahm B, Nothwang HG, Gretz N, Schnieders B, Singh-Sawhney I, et al. Molecular genetic identification of families with juvenile nephronophthisis type 1: the rate of its progression to renal failure. Kidney Int. 1997;51(1):261-9.

Blowey DL, Querfeld U, Geary D, Warady BA, Alon U. Ultrasound findings in juvenile nephronophthisis. Pediatr Nephrol. 1996;10(1):22-4.

Simms RJ, Eley L, Sayer JA. Nephronophthisis. Eur J Hum Genet. 2009;17(4):406-16.

Satran D, Pierpont ME, Dobyns WB. Cerebello-oculo-renal syndromes including Arima, Senior-Loken and COACH syndromes: more than just variants of Joubert syndrome. Am J Med Genet A. 1999;86:459-69.

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Published

2018-02-22

Issue

Section

Case Reports