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Neuronal Ceroid Lipofuscinoses Treatment & Management

  • Author: Celia H Chang, MD; Chief Editor: Amy Kao, MD  more...
 
Updated: Dec 14, 2015
 

Approach Considerations

No specific treatment is available for neuronal ceroid lipofuscinoses (NCLs).[25] Bone marrow transplantation has been tried in animal models as well as in a few infants, with disappointing results. Vitamin E and other antioxidants, as well as selenium, have been tried without significant efficacy. Seizures should be treated with standard anticonvulsants.

Future treatments may involve stem cell transplantation, enzyme replacement, gene therapy, and/or immune therapy.[26, 27]

A study regarding the safety and preliminary efficacy of CNS stem cell transplantation in patients with palmitoyl protein thioesterase 1 (PPT1) or tripeptidyl peptidase 1 (TTP1) deficiency is currently ongoing.[28]

Replication-deficient adeno-associated virus gene transfer vector (AAV2-mediated CLN2 gene transfer) has been studied in mice, rats, and nonhuman primates. Studying this in children is of interest.[29, 30, 31, 32]

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Consultations

Consultation with a geneticist is helpful because prenatal diagnosis may be possible—using DNA analysis and electron microscopy of chorionic villus samples—for families with an affected child.[33] Genetic counseling would include a discussion about the mode of inheritance and risks for recurrence so that couples can make rational family planning decisions.

An ophthalmologist consultation can be very helpful in the evaluation of children thought to have NCL, since abnormal findings may be noted on funduscopic examination, electroretinography, and/or fluorescein angiography.

Consultation by a physiatrist (physical medicine and rehabilitation physician) is very helpful to manage spasticity, therapy, and equipment needs.

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Contributor Information and Disclosures
Author

Celia H Chang, MD Health Sciences Clinical Professor, Chief, Division of Child Neurology, Department of Neurology/MIND Institute, University of California, Davis, School of Medicine

Celia H Chang, MD is a member of the following medical societies: American Academy of Neurology, Child Neurology Society

Disclosure: Nothing to disclose.

Chief Editor

Amy Kao, MD Attending Neurologist, Children's National Medical Center

Amy Kao, MD is a member of the following medical societies: American Academy of Neurology, American Epilepsy Society, Child Neurology Society

Disclosure: Have stock from Cellectar Biosciences; have stock from Varian medical systems; have stock from Express Scripts.

Acknowledgements

Beth A Pletcher, MD Associate Professor, Co-Director of The Neurofibromatosis Center of New Jersey, Department of Pediatrics, University of Medicine and Dentistry of New Jersey

Beth A Pletcher, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics, American Medical Association, and American Society of Human Genetics

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Reference Salary Employment

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