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Saudi Journal of Kidney Diseases and Transplantation
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CASE REPORT Table of Contents   
Year : 2008  |  Volume : 19  |  Issue : 3  |  Page : 443-445
Senior-Loken Syndrome in a Saudi Child


1 Division of Genetics, Department of Pediatric, King Fahad National Guard Hospital, Riyadh, Saudi Arabia
2 Division of Nephrology, Department of Pediatric, King Fahad National Guard Hospital, Riyadh, Saudi Arabia

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   Abstract 

Senior-Loken syndrome is a rare syndrome of retinopathy and nephrono­phthisis. The clinical features of this syndrome include renal involvement, ocular involve­ment, retinitis pigmentosa and other systemic involvement. We describe an 11-year-old Saudi girl who was diagnosed to have this syndrome. To the best of our knowledge, this is the first report of this syndrome from the Arabian Peninsula.

How to cite this article:
AlFadhel M, AlAmir A. Senior-Loken Syndrome in a Saudi Child. Saudi J Kidney Dis Transpl 2008;19:443-5

How to cite this URL:
AlFadhel M, AlAmir A. Senior-Loken Syndrome in a Saudi Child. Saudi J Kidney Dis Transpl [serial online] 2008 [cited 2019 Jul 16];19:443-5. Available from: http://www.sjkdt.org/text.asp?2008/19/3/443/40508

   Introduction Top


Senior-Loken syndrome is a rare syn­drome of retinopathy and nephronophthisis. Senior et al first described it in 1961 and Loken et al in the same year described the condition in two siblings. The clinical fea­tures of this syndrome include renal invol­vement, ocular involvement, retinitis pigmen­tosa and other systemic involvement.

To the best of our knowledge, this is the first report of this syndrome from the Ara­bian Peninsula.


   Case Report Top


Our patient is an 11-year-old Saudi fe­male known to have retinitis pigmentosa who presented to us with a history of run­ning nose, vomiting and diarrhea of two days duration. On detailed review of the patient's history, she had symptoms of weakness, polyuria and polydypsia for the preceding two years associated with vomi­ting on and off, anorexia and weight loss. The parents are first-degree cousins. The patient has two sisters who are blind and two brothers who are normal and one ma­ternal uncle who is 18-years-old with blind­ness and renal failure, on dialysis.

On examination, the patient was pale, not jaundiced or edematous; she was blind and had nystagmus, she was afebrile with normal blood pressure. Growth parameter was on 25th° C for age. Other systemic examination was unremarkable. Laboratory investigations revealed renal failure (blood urea, 24.5 mmol/ L, serum creatinine, 497 micromol/L), ane­mia (hemoglobin, 6.5 g/dl) and acidosis (serum bicarbonate, 12 mmol/L) with nor­mal leukocyte and platelet counts.

Abdominal ultrasound showed a cyst mea­suring 0.9 cm in the mid-pole of the left kidney and bilateral echogenic kidneys, which were normal in size and showed mild hydronephrosis [Figure - 1]. These findings were consistent with nephronophthisis. The liver and spleen were normal. Skeletal sur­vey showed osteopenia and multiple tiny lucencies were noted, consistent with renal osteodystrophy.

Based on these findings, the patient was diagnosed to have Senior-Loken syndrome and was discharged after discussing with the family about the need for renal trans­plantation as a solution for the renal failure.


   Discussion Top


Senior-Loken syndrome is an autosomal recessive syndrome of retinopathy and nephronophthisis [1] . The clinical feature of this syndrome include: a) renal involvement, b) ocular involvement and c) other systemic involvement.

The renal involvement of this syndrome is well defined. [4] The features as well as course are identical to those of isolated nephro­nophthisis. [5] Polyuria and polydypsia and impaired concentrating ability are the earliest clinical signs. [2],[4],[6] Nephronophthisis is usually insidious in nature [2] and progres­sively reaches end-stage renal failure be­fore age of 20 years. However, late onset renal failure in 3 rd and 4th decade has also been reported.

In Senior-Loken syndrome, proteinuria is inconsistent and urinary sediment is usually normal; hematuria is not a feature and blood pressure remains normal until chronic renal failure develops.

Tubular lesions predominate with defective concentrating ability as an invariable sign. Urinary acidification ability is usually pre­served but hyperchloremic acidosis may occur and serum electrolytes may be dis­turbed with hypernatremia, reflecting dehy­dration. [7] In nephronophthisis, histological examination of the kidneys, shows fibrosis or dilated tubules with thickened tubular basement membrane and cysts at the corticomedullary junction. [2],[3],[4]

Successful renal transplantation has been performed in patients with familial and juvenile nephronophthisis without recurrence of the disease in the transplanted organ.

The ocular involvement is in the form of:

a). Tapeto-retinal degeneration:

This covers a group of familial and here­ditary disorders characterized by progressive degeneration of the choroids and retina but varying in nature and severity. [4]

b). Leber's congenital amaurosis[1] :

This is a severe form leading to blindness in infancy and is characterized by nystagmus, diffuse atypical fundal pigmentation with pa­llor of the optic disc, narrowing of the reti­nal arteries and a flat electroretinogram (ERG).

c). Retinitis pigmentosa

Degeneration begins from the external layer of the retina and extends to involve all reti­nochoroid; the optic fundus is characte­rized by stellate mass of pigment in an annular distribution. The retinal lesion in Senior-Loken syndrome is variable and may be severe in infantile onset retinal dystro­phy or more typical retinitis pigmentosa [1] .

Other ocular findings include cataract, Coat's disease and keratoconus. [7]

There are a number of other syndromes associated with nephronophthisis and ocular findings. They include nephronophthisis, re­tinal dystrophy, severe deafness, diabetes mellitus and obesity, which constitute the Alstrom syndrome, [3] and retinal dystrophy, skeletal deformities, and respiratory insuffi­ciency, which are seen in Jeune's dystrophy. c). Other systemic involvement:

There are some reports of association of Senior-Loken syndrome with sensorineural hearing loss and liver fibrosis as well as cerbellar vermis hypoplasia and molar tooth sign on brain MRI [1].

 
   References Top

1.Satran D, Pierpont ME, Dobyns WB. Cere­bello-oculo-renal syndromes including Arima, Senior-Loken and COACH syn-dromes: More than just variants of Joubert syn­drome. Am J Med Genet 1999;86(5): 459-69.  Back to cited text no. 1    
2.Warady BA, Cibis G, Alon V, Blowey D, Hellerstein S. Senior-Loken syndrome: Revisited. Pediatrics 1994;94(1):111-2.  Back to cited text no. 2    
3.Georges B, Cosyns JP, Dahan K, et al. Late­onset renal failure in Senior-Loken syndrome. Am J Kidney Dis 2000;36(6): 1271-5.  Back to cited text no. 3    
4.Fillastre JP, Guenel J, Riberi P, Marx P, Whitworth JA, Kunh JM. Senior-Loken syndrome (nephronophthisis and tapeto­retinal degeneration): A study of 8 cases from 5 families. Clin Nephrol 1976;5(1):14-9.  Back to cited text no. 4    
5.Fernandez-Rodriguez R, Morales JM, Martinez R, et al. Senior-Loken syndrome (nephronophthisis and pigmentary retino­pathy) associated to liver fibrosis: A family study. Nephron 1990;55(1):74-7.  Back to cited text no. 5    
6.Sarangapani S, Chang L, Gregory-Evans K. Cataract surgery in Senior-Loken syndrome is beneficial despite severe retinopathy. Eye 2002;16(6):782-5.  Back to cited text no. 6    
7.Gleeson JG, Keeler LC, Parisi MA, et al. Molar tooth sign of the midbrain-hindbrain junction: Occurrence in multiple distinct syndromes. Am J Med Genet A 2004;125 (2):125-34.  Back to cited text no. 7    

Top
Correspondence Address:
Majid AlFadhel
Division of Genetics, Department of Pediatric, King Fahad National Guard Hospital, P.O. Box 22490, Riyadh 11426
Saudi Arabia
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PMID: 18445908

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    Abstract
    Introduction
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    References
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