Oculocerebrorenal Dystrophy (Lowe Syndrome) Follow-up

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

Further Outpatient Care

  • Hypotonia and mental retardation in oculocerebrorenal syndrome of Lowe (OCRL), or Lowe syndrome, necessitate physical, speech, and feeding therapy.
  • Physical therapy should be initiated in infancy. The initial goals may be head control, sitting, rolling over, and locomotion.
  • Speech delays are common and are multifactorial in origin. Contributing factors include hypotonia, high palate, and intellectual delays.
  • Hypotonia often causes feeding difficulties. Sucking, swallowing, and chewing may be impaired, and therapy may be helpful.
  • Services for the visually handicapped can be helpful.
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Inpatient & Outpatient Medications

  • Replacement of renal losses is essential.
  • Sodium citrate and citric acid (Bicitra) is an alkalizing agent used to manage metabolic acidosis. The therapeutic goal is to maintain serum bicarbonate levels at more than 22 mEq/L.
  • Neutral phosphate and vitamin D may be necessary to prevent the development of osteomalacia or rickets caused by phosphaturia and calciuria.
  • Carnitine may be used if renal losses are substantial enough to cause abnormally low blood levels.
  • Anticonvulsants are necessary in patients with seizures. However, anticonvulsants can interfere with vitamin D metabolism; therefore, caution is necessary.
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Complications

  • Dental problems may occur.
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Prognosis

  • In childhood, death may occur as a result of renal dysfunction with electrolyte problems, hypotonia, seizures, infections (respiratory or enteric), or sudden death while sleeping.
  • Death in patients with Lowe syndrome that occurs between the second to fourth decades of life is usually due to progressive renal failure. The decision to initiate dialysis in patients with Lowe syndrome is medically and ethically complex and depends on the degree of mental retardation, the medical condition of patient, quality of life, and family and social system support. Successful dialysis and renal transplantation has been reported in few adult patients with Lowe syndrome.
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Patient Education

  • Education is directed toward self-help skills and must be tailored to meet the individual strengths and weakness of each patient. Physical therapy should focus on encouraging walking and preventing secondary effects of hypotonia. Occupational therapy is directed toward personal hygiene. Behavioral difficulties may interfere with education, and specialized plans may be necessary to deal with these difficulties and maximize the child's learning.
  • For excellent patient education resources, visit eMedicine's Eye and Vision Center. Also, see eMedicine's patient education article Cataracts.
  • The Lowe Syndrome Association website http://www.lowesyndrome.org/ is an excellent resource for information and support to families of children with Lowe syndrome.
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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.

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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)
 
 
 
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