Neurologic Manifestations of Xeroderma Pigmentosum Medication

  • Author: Peter Hedera, MD, PhD; Chief Editor: Amy Kao, MD   more...
 
Updated: Feb 6, 2012
 

Medication Summary

The goals of pharmacotherapy are to reduce morbidity and prevent complications.

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Anticonvulsants

Class Summary

These agents prevent seizure recurrence and terminate clinical and electrical seizure activity.

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Carbamazepine (Tegretol, Carbatrol, Epitol)

 

Treats complex partial seizures. Appears to act by reducing polysynaptic responses and blocking posttetanic potentiation. Major mechanism of action is to reduce sustained high-frequency repetitive neural firing.

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Phenytoin (Dilantin)

 

May act in motor cortex where may inhibit spread of seizure activity. Activity of brain stem centers responsible for tonic phase of grand mal seizures also may be inhibited.

Dose should be individualized. Administer larger dose before retiring if dose cannot be divided equally. Phosphorylated formulation, fosphenytoin, available for parenteral use and may be given IM or IV.

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Valproic acid (Depakote, Depakene, Depacon)

 

Chemically unrelated to other drugs that treat seizure disorders. Although mechanism of action not established, activity may be related to increased brain levels of GABA, or enhanced GABA action.

Also may potentiate postsynaptic GABA responses, affect potassium channel, or have direct membrane-stabilizing effect.

For conversion to monotherapy, concomitant AED dosage ordinarily can be reduced by approximately 25% every 2 wk. This reduction may start at initiation of therapy or be delayed by 1-2 wk if concern that seizures may occur with reduction. Monitor patients closely during this period for increased seizure frequency.

As adjunctive therapy, divalproex sodium may be added to patient's regimen at 10-15 mg/kg/d. May increase by 5-10 mg/kg/wk to achieve optimal clinical response. Ordinarily, optimal clinical response achieved at daily doses < 60 mg/kg/d.

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Contributor Information and Disclosures
Author

Peter Hedera, MD, PhD  Associate Professor, Department of Neurology, Vanderbilt University School of Medicine

Peter Hedera, MD, PhD is a member of the following medical societies: American Academy of Neurology, American College of Medical Genetics, and American Neurological Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Robert Stanley Rust Jr, MD, MA  Thomas E Worrell Jr Professor of Epileptology and Neurology, Co-Director of FE Dreifuss Child Neurology and Epilepsy Clinics, Director, Child Neurology, University of Virginia School of Medicine; Chair-Elect, Child Neurology Section, American Academy of Neurology

Robert Stanley Rust Jr, MD, MA is a member of the following medical societies: American Academy of Neurology, American Epilepsy Society, American Headache Society, American Neurological Association, Child Neurology Society, International Child Neurology Association, and Society for Pediatric Research

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 Salary Employment

Kenneth J Mack, MD, PhD  Senior Associate Consultant, Department of Child and Adolescent Neurology, Mayo Clinic

Kenneth J Mack, MD, PhD is a member of the following medical societies: American Academy of Neurology, Child Neurology Society, Phi Beta Kappa, and Society for Neuroscience

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 Academy of Pediatrics, American Epilepsy Society, and Child Neurology Society

Disclosure: Nothing to disclose.

References

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Sunlight-induced dermatologic abnormalities in a patient with xeroderma pigmentosum.
Typical skin manifestation of xeroderma pigmentosum with numerous areas of hypopigmentation and freckles (ie, solar lentigines) with different intensities of pigmentation.
Axial T2-weighted MRI of the brain of a 47-year-old woman with xeroderma pigmentosum, complementary group D. She developed progressive ataxia and dementia at age 44 years. Note severe atrophy and normal signal from the white matter.
Coronal T1-weighted MRI image of the brain of a 47-year-old woman who developed progressive ataxia and dementia at age 44 and was found to have xeroderma pigmentosum, complementary group D (see image above). Severe diffuse atrophy involves the brain stem and cerebellum.
 
 
 
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