SavedAdd your journal

Journals / Ege Pediatri Bülteni / 2006 / Cilt: 13 - Sayı: 1

A case with oculocerebrorenal syndrome

Okuloserebrorenal sendromlu bir olgu

Eray DİRİK
Uluç YİŞ
Orkide GÜZEL
Semra KURUL
Pages
47–50
Publication Date
2022-10-17
DOI
—
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

We present a 18 month old boy with congenital cataract and hypotonia diagnosed as OCRL because of incipient proteinuria and generalised aminoaciduria.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Congenital bilateral cataract, neurologic dysfunction (hypotonia, areflexia, and cognitive impairment), and renal Fanconi syndrome are three main clinical features of oculocerebrorenal (OCRL) syndrome.
📊
Key Findings & Data:Proximal tubule dysfunction is not congenital and is the hallmark of OCRL, presenting in early childhood as a Fanconi syndrome.
💡
Conclusion & Impact:We present a 18 month old boy with congenital cataract and hypotonia diagnosed as OCRL because of incipient proteinuria and generalised aminoaciduria.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Congenital bilateral cataract, neurologic dysfunction (hypotonia, areflexia, and cognitive impairment), and renal Fanconi syndrome are three main clinical features of oculocerebrorenal (OCRL) syndrome. Proximal tubule dysfunction is not congenital and is the hallmark of OCRL, presenting in early childhood as a Fanconi syndrome. We present a 18 month old boy with congenital cataract and hypotonia diagnosed as OCRL because of incipient proteinuria and generalised aminoaciduria.

Özet

Konjenital bilateral katarakt, nörolojik disfonksiyon (hipotoni, arefleksi ve kognitif bozulma) ve renal Fanconi sendromu okuloserebro¬renal sendromun üç ana klinik bulgusudur. Proksimal tubül disfonksiyonu konjenital değildir ve hastalığın en önemli bulgusu olup kendini erken çocukluk çağında Fanconi sendromu olarak göstermektedir. Bu yazıda konjenital katarakt ve hipotonisi olan ve yeni başlayan proteinüri ve jerieralize aminoasidüri nedeniyle okuloserebrorenal sendrom tanısı alan 18 aylık bir erkek hasta sunulmuştur.

🔖

Cite This Article

DİRİK, E., YİŞ, U., GÜZEL, O., KURUL, S. (2022). A case with oculocerebrorenal syndrome. Ege Pediatri Bülteni, Cilt: 13 - Sayı: 1, 47–50. https://ajindex.com/articles/495727

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (5)

  1. Seven M, Suyugül Z, Yüksel A, Hacıhanefıoğlu S, Aydın A, Cenani A. The approachment to behavioral phenotype of a case with Lowe syndrome. Cerrahpaşa J Med 1998; 29 (1): 43-46
  2. Qropman A, Levin S, Yao L, et al. Unusual renal features of Lowe Syndrome in a mildly affected boy. Am J Med Qenet 2000; 95: 461-466
  3. Tricot L, Yahiaoui Y, Teixeira L, et al. End-stage renal failure in Lowe syndrome. Nephrol Dial Transplant 2003; 18: 1923-1925
  4. Sarıcaoğlu F, Demirtaş F, Aypar Ü. Preoperative and perioperative management of a patient with Lowe syndrome diagnosed to have Fanconi's syndrome. Pediatric Anesthesia 2004J 14: 530-531
  5. Schramm L, Gal A, Zimmerrhann J, Netzer KO, et al. Advanced renal insufficiency in a 34-year-old man with Lowe syndrome. Am J Kidney Dis. 2004; 43(3): 538-543.