eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Metabolic Diseases

Oculocerebrorenal Dystrophy (Lowe Syndrome): Follow-up

Author: Amira Al-Uzri, MD, MCR, Associate Professor, Associate Director of Pediatric Clinical Research, Department of Pediatrics, Division of Pediatric Nephrology, Oregon Health & Science University
Coauthor(s): Robert D Steiner, MD, Professor, Departments of Pediatrics and Molecular and Medical Genetics, Vice Chair for Research, Department of Pediatrics, Oregon Health & Science University; Director and Consulting Staff, Metabolic Bone Disease Clinic, Shriner's Hospital and Doernbecher Children's Hospital; Co-Director: Pediatric and Child Health Research, Oregon Clinical and Translational Research Institute (CTSA).; Melissa P Wasserstein, MD, Associate Professor, Departments of Genetics and Genomic Sciences and Pediatrics, Mount Sinai School of Medicine; Cydney L Fenton, MD, FAAP, Consulting Staff, Department of Pediatric Endocrinology, Children's Hospital Medical Center of Akron
Contributor Information and Disclosures

Updated: Jul 14, 2009

Follow-up

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.

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.

Complications

  • Dental problems may occur.

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.

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.

Miscellaneous

Medicolegal Pitfalls

  • Failure to monitor intraocular pressure may lead to blindness.

Special Concerns

  • Carrier detection
    • As many as 94% of female carriers may be detected using slit-lamp examination. The typical findings include numerous punctate lenticular opacities or a single dense posterior cataract.

      The classic lenticular opacities in a female carr...

      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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      The classic lenticular opacities in a female carr...

      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)

    • If the mother has normal eye examination findings, mutation analysis should still be obtained because some women (rarely) are nonpenetrant carriers and do not have the typical eye manifestations.
    • Molecular analysis of the OCRL1 gene is a more specific way to diagnose female carriers if the mutation in the proband is known.
  • Prenatal testing
    • Prenatal testing is possible for at-risk pregnancies, using either molecular analysis or biochemical testing, in which the activity of PtdIns[4,5]P2 5-phosphatase is measured in cultured chorionic villi (at 9-11 weeks' gestation) or cultured amniocytic fluid cells (at 15-20 weeks' gestation).
    • Genetic mutations should be documented first in the proband.
  • Genetic counseling
    • The recurrence risk for the family of a patient with oculocerebrorenal syndrome of Lowe, or Lowe syndrome, depends on whether the proband carries a new mutation.
    • If the mother of the proband is a carrier (determined with mutation analysis optimally or with ophthalmologic examination if mutation analysis is not available), each male offspring has a 50% chance of being affected, and each female has a 50% chance of being a carrier. If the mother does not have the typical eye findings and no mutations are found in the OCRL1 locus, then the mutation may be new, and the recurrence risk is low but finite because of the possibility of gonadal mosaicism.
 


More on Oculocerebrorenal Dystrophy (Lowe Syndrome)

Overview: Oculocerebrorenal Dystrophy (Lowe Syndrome)
Differential Diagnoses & Workup: Oculocerebrorenal Dystrophy (Lowe Syndrome)
Treatment & Medication: Oculocerebrorenal Dystrophy (Lowe Syndrome)
Follow-up: Oculocerebrorenal Dystrophy (Lowe Syndrome)
Multimedia: Oculocerebrorenal Dystrophy (Lowe Syndrome)
References
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Further Reading

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Keywords

oculocerebrorenal dystrophy, Lowe syndrome, Lowe's syndrome, oculocerebrorenal syndrome of Lowe, OCRL, Fanconi syndrome, Fanconi's syndrome, renal tubular defects, congenital cataracts, neonatal hypotonia, infantile hypotonia, mental retardation, mental impairment, renal tubular dysfunction, OCRL1, Lowe-Terrey-MacLachlan syndrome, cryptorchidism, metabolic acidosis, pneumonia, status epilepticus, temper tantrums, aggression, constipation, glaucoma, treatment, diagnosis, rickets, osteomalacia, osteopenia

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Contributor Information and Disclosures

Author

Amira Al-Uzri, MD, MCR, Associate Professor, Associate Director of Pediatric Clinical Research, Department of Pediatrics, Division of Pediatric Nephrology, Oregon Health & Science University
Amira Al-Uzri, MD, MCR is a member of the following medical societies: American Society of Pediatric Nephrology and American Society of Transplantation
Disclosure: Nothing to disclose.

Coauthor(s)

Robert D Steiner, MD, Professor, Departments of Pediatrics and Molecular and Medical Genetics, Vice Chair for Research, Department of Pediatrics, Oregon Health & Science University; Director and Consulting Staff, Metabolic Bone Disease Clinic, Shriner's Hospital and Doernbecher Children's Hospital; Co-Director: Pediatric and Child Health Research, Oregon Clinical and Translational Research Institute (CTSA).
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: Genzyme Honoraria Speaking and teaching; Genzyme Grant/research funds Other; Shire Honoraria Speaking and teaching; Actelion Honoraria Speaking and teaching; Biomarin Honoraria Speaking and teaching; Biomarin Consulting fee 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, FAAP, Consulting Staff, Department of Pediatric Endocrinology, Children's Hospital Medical Center of Akron
Cydney L Fenton, MD, FAAP is a member of the following medical societies: American Academy of Pediatrics, American Diabetes Association, Endocrine Society, and Lawson-Wilkins Pediatric Endocrine Society
Disclosure: Nothing to disclose.

Medical Editor

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.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

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.

CME Editor

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, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics, 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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