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Vitamin B-6 Dependency Syndromes Follow-up

  • Author: Haritha Reddy Chelimilla, MD; Chief Editor: Jatinder Bhatia, MBBS, FAAP  more...
 
Updated: Nov 06, 2014
 

Further Outpatient Care

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  • Continue to monitor seizure activity.
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Further Inpatient Care

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  • Monitor seizure activity in patients with vitamin B-6 dependency syndrome.
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Inpatient & Outpatient Medications

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  • Pyridoxine (see Medication)
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Complications

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  • Patients who are taking long-term pyridoxine for pyridoxine-dependent seizure (PDS) must be assessed for signs of sensory peripheral neuropathy on follow-up; this should include monitoring of rombergism, ankle jerks, and joint position sense.[1, 2]
  • The toxic effects of pyridoxine administration are a major concern for patients with PDS. Prolonged depression of neurologic and respiratory function, bradycardia, hypotonia and apnea, and depression of cerebral electrical activity have all been reported in patients receiving oral or parenteral test doses of pyridoxine. A reversible sensory neuropathy has been described in some individuals who have taken high doses of pyridoxine on a long-term basis. In some patients, a chronic painful neuropathy has developed.[1, 2]
  • In adults, symptoms of adverse effects of megadoses of pyridoxine include unstable gait and feet numbness, followed by numbness and clumsiness of the hands, and then perioral numbness. Signs include gait ataxia, reduced or absent reflexes, decrease position, vibration, pain, and heightened temperature sensation.[2]
  • Intercurrent illness can precipitate seizures in children whose states are usually well controlled on pyridoxine. Administration of an additional 100 mg of pyridoxine per day is recommended in these cases;[2] however, this is not always effective.
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Prognosis

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  • Untreated patients usually die with a severe seizure disorder, and most infants have mental retardation despite the initiation of therapy in utero or during the first hour of life.[1, 8] However, early therapy may decrease the severity of intellectual impairment.[1, 2, 16, 15] A meta-analysis of the most recent literature indicates no significant correlation between developmental outcome and the time of diagnosis and institution of pyridoxine therapy. Some studies suggest that the developmental outcome is dependent on the dose of pyridoxine used.[1] Approximately 60% of patients with PDS have delayed developmental milestones for walking and talking.[8] Additionally, one study reports a specific deficit in expressive speech.[15]
  • Patients presenting older than 1 month have a better prognosis than those presenting younger than 1 month. Infants who have early seizures that are unresponsive to routine anticonvulsants usually have a poor prognosis.
  • Scharer et al..[29] have described three different phenotypes in pyridoxine treated patients: 1) complete seizure control and normal developmental outcome; 2) complete seizure control and developmental delay or intellectual disability; and 3) incomplete seizure control and developmental delay or intellectual disability
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Patient Education

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Contributor Information and Disclosures
Author

Haritha Reddy Chelimilla, MD Fellow, Department of Gastroenterology, Bronx-Lebanon Hospital Center

Haritha Reddy Chelimilla, MD is a member of the following medical societies: American College of Gastroenterology, American College of Physicians, American Medical Association, Medical Society of the State of New York, Indian Medical Association, New York Society for Gastrointestinal Endoscopy

Disclosure: Nothing to disclose.

Coauthor(s)

Prospere Remy, MD Assistant Professor of Medicine, Albert Einstein College of Medicine; Attending Physician, Department of Internal Medicine, Bronx-Lebanon Hospital Center

Prospere Remy, MD is a member of the following medical societies: American College of Physicians, American Society for Gastrointestinal Endoscopy

Disclosure: Nothing to disclose.

Suresh Kumar Nayudu, MD Fellow in Gastroenterology, Bronx-Lebanon Hospital Center, Albert Einstein College of Medicine of Yeshiva University

Suresh Kumar Nayudu, MD is a member of the following medical societies: American Association for the Study of Liver Diseases, American College of Gastroenterology, American College of Physicians, American Gastroenterological Association, American Medical Association, American Society for Gastrointestinal Endoscopy, Medical Society of the State of New York, American Association of Physicians of Indian Origin, Americas Hepato-Pancreato-Biliary Association

Disclosure: Nothing to disclose.

Specialty Editor Board

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.

Jatinder Bhatia, MBBS, FAAP Professor of Pediatrics, Medical College of Georgia, Georgia Regents University; Chief, Division of Neonatology, Director, Fellowship Program in Neonatal-Perinatal Medicine, Director, Transport/ECMO/Nutrition, Vice Chair, Clinical Research, Department of Pediatrics, Children's Hospital of Georgia

Jatinder Bhatia, MBBS, FAAP is a member of the following medical societies: American Academy of Pediatrics, American Association for the Advancement of Science, American Pediatric Society, American Society for Nutrition, American Society for Parenteral and Enteral Nutrition, Academy of Nutrition and Dietetics, Society for Pediatric Research, Southern Society for Pediatric Research

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: Gerber.

Chief Editor

Jatinder Bhatia, MBBS, FAAP Professor of Pediatrics, Medical College of Georgia, Georgia Regents University; Chief, Division of Neonatology, Director, Fellowship Program in Neonatal-Perinatal Medicine, Director, Transport/ECMO/Nutrition, Vice Chair, Clinical Research, Department of Pediatrics, Children's Hospital of Georgia

Jatinder Bhatia, MBBS, FAAP is a member of the following medical societies: American Academy of Pediatrics, American Association for the Advancement of Science, American Pediatric Society, American Society for Nutrition, American Society for Parenteral and Enteral Nutrition, Academy of Nutrition and Dietetics, Society for Pediatric Research, Southern Society for Pediatric Research

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: Gerber.

Additional Contributors

Steven M Schwarz, MD, FAAP, FACN, AGAF Professor of Pediatrics, Children's Hospital at Downstate, State University of New York Downstate Medical Center

Steven M Schwarz, MD, FAAP, FACN, AGAF is a member of the following medical societies: American Academy of Pediatrics, American College of Nutrition, American Association for Physician Leadership, New York Academy of Medicine, Gastroenterology Research Group, American Gastroenterological Association, American Pediatric Society, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition, Society for Pediatric Research

Disclosure: Nothing to disclose.

Acknowledgements

Michael D Nissen, MBBS, FRACP, FRCPA Associate Professor in Biomolecular, Biomedical Science & Health, Griffith University; Director of Infectious Diseases and Unit Head of Queensland Paediatric Infectious Laboratory, Sir Albert Sakzewski Viral Research Centre, Royal Children's Hospital

Disclosure: Nothing to disclose.

Catherine O'Neil, BHlthSc, APD Clinical Dietician/Nutritionist, Royal Children's Hospital, Australia; Community Nutritionist, Save the Children Fund

Disclosure: Nothing to disclose.

Anjali Parish, MD Assistant Professor of Pediatrics, Department of Neonatology, Medical College of Georgia

Anjali Parish, MD is a member of the following medical societies: American Academy of Pediatrics and American Medical Association

Disclosure: Nothing to disclose.

Judith A Wilcox Director of Nutrition and Dietetics, Royal Children's Hospital, Australia

Disclosure: Nothing to disclose.

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