Oculocerebrorenal Dystrophy (Lowe Syndrome) Differential Diagnoses

  • Author: Amira Al-Uzri, MD, MCR; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Mar 27, 2012
 
 

Differential Diagnoses

Proceed to Workup
 
 
Contributor Information and Disclosures
Author

Amira Al-Uzri, MD, MCR  Associate Professor of Pediatrics, Director, Pediatric Clinical Research Office, Director, Pediatric Clinical and Translational Research Center, Department of Pediatrics, Divison of Pediatric Kidney Services and Hypertension, Oregon Health and Science University School of Medicine

Amira Al-Uzri, MD, MCR is a member of the following medical societies: American Society of Nephrology, American Society of Pediatric Nephrology, and American Society of Transplantation

Disclosure: Nothing to disclose.

Coauthor(s)

Robert D Steiner, MD  Credit Unions for Kids Professor of Pediatric Research, Professor of Pediatrics and Molecular and Medical Genetics, Vice Chair for Research, Department of Pediatrics, Faculty, Program in Molecular and Cellular Biosciences, Oregon Health and Science University School of Medicine; Attending Physician, Doernbecher Children's Hospital; Staff Consultant, Director of Metabolic Bone Disease Clinic, Shriners Hospital Portland

Robert D Steiner, MD is a member of the following medical societies: American Academy of Pediatrics, American Association for the Advancement of Science, American College of Medical Genetics, American Society of Human Genetics, Oregon Medical Association, Society for Inherited Metabolic Disorders, Society for Pediatric Research, Society for the Study of Inborn Errors of Metabolism, and Western Society for Pediatric Research

Disclosure: Amicus Honoraria Consulting; Actelion Honoraria Consulting; Actelion Honoraria Speaking and teaching; Biomarin Honoraria Consulting; Genzyme Honoraria Consulting; Shire Honoraria Consulting

Melissa P Wasserstein, MD  Associate Professor, Departments of Genetics and Genomic Sciences and Pediatrics, Mount Sinai School of Medicine

Melissa P Wasserstein, MD is a member of the following medical societies: American Society of Human Genetics

Disclosure: Nothing to disclose.

Cydney L Fenton, MD  Director, Center for Diabetes and Endocrinology, Akron Children's Hospital

Cydney L Fenton, MD is a member of the following medical societies: American Academy of Pediatrics, American Diabetes Association, Endocrine Society, and Pediatric Endocrine Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Ian Krantz, MD  Department of Pediatrics, Assistant Professor, University of Pennsylvania and Children's Hospital of Philadelphia

Ian Krantz, MD is a member of the following medical societies: American Society of Human Genetics

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Leonard G Feld, MD, PhD, MMM, FAAP  Sara H Bissell and Howard C Bissell Endowed Chair in Pediatrics, Chief Medical Officer, Levine Children's Hospital, Carolinas Medical Center

Leonard G Feld, MD, PhD, MMM, FAAP is a member of the following medical societies: American Academy of Pediatrics, American College of Physician Executives, American Society of Nephrology, American Society of Pediatric Nephrology, International Society of Nephrology, and Juvenile Diabetes Foundation International

Disclosure: Nothing to disclose.

Daniel Rauch, MD, FAAP  Director, Pediatric Hospitalist Program, Associate Professor, Department of Pediatrics, New York University School of Medicine

Daniel Rauch, MD, FAAP is a member of the following medical societies: Ambulatory Pediatric Association, American Academy of Pediatrics, and Society of Hospital Medicine

Disclosure: Baxter Honoraria Consulting

Chief Editor

Bruce Buehler, MD  Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association

Disclosure: Nothing to disclose.

References

  1. McCrea HJ, De Camilli P. Mutations in phosphoinositide metabolizing enzymes and human disease. Physiology (Bethesda). Feb 2009;24:8-16. [Medline].

  2. Pirruccello M, Swan LE, Folta-Stogniew E, De Camilli P. Recognition of the F&H motif by the Lowe syndrome protein OCRL. Nat Struct Mol Biol. Jun 12 2011;18(7):789-95. [Medline]. [Full Text].

  3. Cho HY, Lee BH, Choi HJ, Ha IS, Choi Y, Cheong HI. Renal manifestations of Dent disease and Lowe syndrome. Pediatr Nephrol. Feb 2008;23(2):243-9. [Medline].

  4. Hoopes RR Jr, Shrimpton AE, Knohl SJ, Hueber P, Hoppe B, Matyus J, et al. Dent Disease with mutations in OCRL1. Am J Hum Genet. Feb 2005;76(2):260-7. [Medline]. [Full Text].

  5. McSpadden K. Living with Lowe Syndrome: A Guide for Families, Friends and Professionals. 3rd ed. Lowe Syndrome Association, Inc.; 2000.

  6. Ruellas AC, Pithon MM, dos Santos RL, de Oliveira DD, de Oliveira AM, de Oliveira MM. Orthodontic treatment of a patient with Lowe syndrome. Am J Orthod Dentofacial Orthop. Oct 2011;140(4):562-8. [Medline].

  7. Kleta R. Fanconi or not Fanconi? Lowe syndrome revisited. Clin J Am Soc Nephrol. Sep 2008;3(5):1244-5. [Medline].

  8. Bockenhauer D, Bokenkamp A, van't Hoff W, et al. Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction. Clin J Am Soc Nephrol. Sep 2008;3(5):1430-6. [Medline].

  9. Charnas LR, Bernardini I, Rader D, Hoeg JM, Gahl WA. Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function. N Engl J Med. May 9 1991;324(19):1318-25. [Medline].

  10. Charnas LR, Gahl WA. The oculocerebrorenal syndrome of Lowe. Adv Pediatr. 1991;38:75-107. [Medline].

  11. Charnas LR, Nussbaum RL. The Oculocerebrorenal Syndrome of Lowe (Lowe syndrome). In: Beaudet AL, Scriver CR, Sly WS, Valle DL, eds. The Metabolic and Molecular Bases of Inherited Disease. Division. 7th ed. McGraw-Hill Health Professions; 1995:3705-3716.

  12. Cibis GW, Tripathi RC, Tripathi BJ. Lowe's oculocerebrorenal syndrome. In: Gold DH, Weingeist TA, eds. The Eye in Systemic Disease. Lippincott-Raven Publishers: 1990:504.

  13. Cibis GW, Waeltermann JM, Whitcraft CT, Tripathi RC, Harris DJ. Lenticular opacities in carriers of Lowe's syndrome. Ophthalmology. Aug 1986;93(8):1041-5. [Medline].

  14. Cifelli PM, Hargreaves I, Grunewald S. Cytochrome oxidase deficiency in Lowe syndrome. J Inherit Metab Dis. Sep 2002;25(5):411-2. [Medline].

  15. Dressman MA, Olivos-Glander IM, Nussbaum RL, Suchy SF. Ocrl1, a PtdIns(4,5)P(2) 5-phosphatase, is localized to the trans-Golgi network of fibroblasts and epithelial cells. J Histochem Cytochem. Feb 2000;48(2):179-90. [Medline]. [Full Text].

  16. Erdogan F, Ismailogullari S, Soyuer I, Ferahbas A, Poyrazoglu H. Different seizure types and skin lesions in oculocerebrorenal syndrome of Lowe. J Child Neurol. Apr 2007;22(4):427-31. [Medline].

  17. Erneux C, Govaerts C, Communi D, Pesesse X. The diversity and possible functions of the inositol polyphosphate 5-phosphatases. Biochim Biophys Acta. Dec 8 1998;1436(1-2):185-99. [Medline].

  18. Kenworthy L, Park T, Charnas LR. Cognitive and behavioral profile of the oculocerebrorenal syndrome of Lowe. Am J Med Genet. May 15 1993;46(3):297-303. [Medline].

  19. Kim DW, Kim CG, Park SA. Poor renal uptake of Tc-99m DMSA in a patient with oculocerebrorenal dystrophy (Lowe syndrome). Clin Nucl Med. Jan 2007;32(1):49-50. [Medline].

  20. Leahey AM, Charnas LR, Nussbaum RL. Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe. Hum Mol Genet. Apr 1993;2(4):461-3. [Medline].

  21. Lin T, Orrison BM, Leahey AM, Suchy SF, Bernard DJ, Lewis RA, et al. Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome. Am J Hum Genet. Jun 1997;60(6):1384-8. [Medline]. [Full Text].

  22. Lloyd SE, Pearce SH, Fisher SE, et al. A common molecular basis for three inherited kidney stone diseases. Nature. Feb 1 1996;379(6564):445-9. [Medline].

  23. Loi M. Lowe syndrome. Orphanet J Rare Dis. May 18 2006;1:16. [Medline]. [Full Text].

  24. Ludwig M, Doroszewicz J, Seyberth HW, et al. Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization. Hum Genet. Jul 2005;117(2-3):228-37. [Medline].

  25. Nussbaum RL, Orrison BM, Janne PA, Charnas L, Chinault AC. Physical mapping and genomic structure of the Lowe syndrome gene OCRL1. Hum Genet. Feb 1997;99(2):145-50. [Medline].

  26. Ono J, Harada K, Mano T, Yamamoto T, Okada S. MR findings and neurologic manifestations in Lowe oculocerebrorenal syndrome. Pediatr Neurol. Feb 1996;14(2):162-4. [Medline].

  27. Ooms LM, Horan KA, Rahman P, et al. The role of the inositol polyphosphate 5-phosphatases in cellular function and human disease. Biochem J. Apr 1 2009;419(1):29-49. [Medline].

  28. Papadopoulos NM, Costello R, Charnas L, Adamson MD, Gahl WA. Electrophoretic examination of proteinuria in Lowe's syndrome and other causes of renal tubular Fanconi syndrome. Clin Chem. Nov 1989;35(11):2231-3. [Medline].

  29. Rodrigues Santos MT, Watanabe MM, Manzano FS, Lopes CH, Masiero D. Oculocerebrorenal Lowe syndrome: a literature review and two case reports. Spec Care Dentist. 2007;27 (3):108.

  30. Roschinger W, Muntau AC, Rudolph G, Roscher AA, Kammerer S. Carrier assessment in families with lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination. Mol Genet Metab. Mar 2000;69(3):213-22. [Medline].

  31. Ruellas AC, Pithon MM, Oliveira DD, Oliveira AM. Lowe syndrome: literature review and case report. J Orthod. Sep 2008;35(3):156-60. [Medline].

  32. Shrimpton AE, Hoopes Jr RR, Knohl SJ, et al. OCRL1 Mutations in Dent 2 Patients Suggest a Mechanism for Phenotypic Variability. Nephron Physiol. 2009;112 (2):p27.

  33. Sonmez F, Temocyn AK, Ozkan SB, et al. Lowe syndrome with anal atresia: a possible variant of OCRL?. Pediatr Int. Apr 2003;45(2):201-4. [Medline].

  34. Suchy SF, Lin T, Horwitz JA, O'Brien WE, Nussbaum RL. First report of prenatal biochemical diagnosis of Lowe syndrome. Prenat Diagn. Nov 1998;18(11):1117-21. [Medline].

  35. Tricot L, Yahiaoui Y, Teixeira L, et al. End-stage renal failure in Lowe syndrome. Nephrol Dial Transplant. Sep 2003;18(9):1923-5. [Medline].

  36. Ungewickell AJ, Majerus PW. Increased levels of plasma lysosomal enzymes in patients with Lowe syndrome. Proc Natl Acad Sci U S A. Nov 9 1999;96(23):13342-4. [Medline]. [Full Text].

  37. Vicinanza M, D'Angelo G, Di Campli A, De Matteis MA. Phosphoinositides as regulators of membrane trafficking in health and disease. Cell Mol Life Sci. Sep 2008;65(18):2833-41. [Medline].

  38. Vilasi A, Cutillas PR, Maher AD, et al. Combined proteomic and metabonomic studies in three genetic forms of the renal Fanconi syndrome. Am J Physiol Renal Physiol. Aug 2007;293(2):F456-67. [Medline].

  39. Yuksel A, Karaca E, Albayram MS. Magnetic resonance imaging, magnetic resonance spectroscopy, and facial dysmorphism in a case of Lowe syndrome with novel OCRL1 gene mutation. J Child Neurol. Jan 2009;24(1):93-6. [Medline].

 
Previous
Next
 
The classic lenticular opacities in a female carrier for Lowe syndrome. Note the punctate cortical opacities in radical wedges. (Photo courtesy of Otis Paul, MD)
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2012 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.