Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2013 Jun;45(2):128-31.
doi: 10.5152/eajm.2013.25.

Senior-loken syndrome with rare manifestations: a case report

Harikrishan K Aggarwal  1 , Deepak Jain  1 , Sachin Yadav  1 , Vipin Kaverappa  1 , Abhishek Gupta  1
Affiliations
Case Reports

Senior-loken syndrome with rare manifestations: a case report

Harikrishan K Aggarwal et al. Eurasian J Med. 2013 Jun.

Abstract
in English, Turkish

Senior-Loken syndrome refers to a disorder in which there is a combination of nephronophthisis and retinal dystrophy. The earliest presenting signs of the renal component are polyuria and polydipsia secondary to defective urinary concentrating ability. Nephronophthisis progresses to end-stage renal disease during the second decade. The retinal lesions are variable, ranging from severe infantile onset retinal dystrophy to more typical retinitis pigmentosa. There is a spectrum of other associated features, including skeletal, dermatological and cerebellar anomalies, observed in this entity. Here, we report a case of Senior-Loken syndrome associated with small hand (short metacarpals) and madarosis. To date, there are no cases reported in the literature describing the association of madarosis with this syndrome, and the presence of small hands has been reported only once.

Senior-Loken sendromu, nefronofitizis ve retinal distrofinin birlikte olduğu bir hastalıktır. Renal komponentinin erken başvuru bulguları idrar konsantrasyon yeteneğindeki defekte sekonder gelişen poliüri ve polidipsidir. Nefronofitizis ikinci dekatta son dönem böbrek hastalığına doğru ilerler. Retinal lezyonlar, şiddetli infantil başlangıçlı retinal distrofiden daha tipik retinitis pigmentosaya kadar değişkenlik gösterir. Bu olguda iskelet, dermatolojik ve serebellar anomalileri içeren diğer ilişkili özelliklerin bir spekturumu izlendi. Burada, kısa metakarp ve madarozis ile ilişkili Senior-Loken sendromlu bir olgu sunulmuştur. Bugüne kadar, bu sendrom ile ilişkili madarozisi açıklayan literatürde hiçbir vaka bulunmamaktadır ve kısa metakarp varlığı sadece bir kez rapor edilmiştir.

Keywords: Madarosis; Senior-Loken syndrome; nephronophthisis; retinitis pigmentosa; small hands.

PubMed Disclaimer

Figures

Figure 1.
Figure 1.
A) Picture of the patient showing madrosis. B) Picture showing small hands.
Figure 2.
Figure 2.
Retinal photographs demonstrating widespread pigmentary abnormalities, suggestive of Retinitis Pigmentosa.
See this image and copyright information in PMC

References

    1. Senior B, Friedmann AI, Braudo JL. Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy. Am J Ophthalmol. 1961;52:625–33. - PubMed
    1. Loken AC, Hanssen O, Halvorsen S, Jolster NJ. Hereditary renal dysplasia and blindness. Acta Paediatr. 1961;50:177–84. - PubMed
    1. Otto EA, Tory K, Attanasio M, et al. Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11) J Med Genet. 2009;46:663–70. - PubMed
    1. Salomon R, Saunier S, Niaudet P. Nephronophthisis. Pediatr Nephrol. 2009;24:2333–44. - PMC - PubMed
    1. Godel V, Iaina A, Nemet P, Lazar M. Sector retinitis pigmentosa in juvenile nephronophthisis. Br J Ophthalmol. 1980;64:124–6. - PMC - PubMed

Publication types

LinkOut - more resources