eMedicine Specialties > Pediatrics: General Medicine > Nutrition

Vitamin B-6 Dependency Syndromes: Differential Diagnoses & Workup

Author: Anjali Parish, MD, Assistant Professor of Pediatrics, Department of Neonatology, Medical College of Georgia
Coauthor(s): Michael D Nissen, MBBS, BMedSc, 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; Catherine O'Neil, BHlthSc, APD, Clinical Dietician/Nutritionist, Royal Children's Hospital, Australia; Community Nutritionist, Save the Children Fund; Judith A Wilcox, BSc, Director of Nutrition and Dietetics, Royal Children's Hospital, Australia
Contributor Information and Disclosures

Updated: Nov 19, 2008

Differential Diagnoses

Hemolytic-Uremic Syndrome

Other Problems to Be Considered

Homocystinuria
Myoclonic epilepsy
West syndrome

Workup

Laboratory Studies

  • Perform hematology tests, a sepsis screen, and metabolic (profile) tests.
  • Plecko et al have confirmed pipecolic acid (PA) levels are elevated in the plasma of patients with pyridoxine (vitamin B-6)–dependent seizure (PDS) both before and after treatment with pyridoxine.13 Furthermore, alpha amino adipic semialdehyde (AASA) levels are also elevated in plasma, urine, and cerebrospinal fluid (CSF). They have recommended PA and AASA levels in plasma and urine be used as markers to select for patients who need molecular analysis of the antiquitin gene.

Imaging Studies

  • Despite several reports about imaging studies, no typical abnormality has been found in PDS.1,2
  • A high prevalence of structural CNS defects has been reported, as well as varying degrees of grey and white matter atrophy, thinning of the corpus callosum, and the presence of mega cisterna magna.1
  • Progressive cortical-white matter atrophy and ventricular dilation is also present in inadequately treated patients with PDS.1,2
  • Hydrocephalus of unknown origin can also occur.
  • Baxter reports apparent cysts adjacent to the lateral ventricles in some neonatal-onset ultrasonographic images.
  • CT scanning and MRI reveal structural abnormalities in the brain in addition to white matter abnormalities.2
  • CT scanning and MRI do not have a well-established role in the diagnosis of PDS.1

Other Tests

  • Following pyridoxine administration, the EEG usually takes 2-6 minutes to normalize. The pattern is typically suggestive of diffuse and focal dysfunction and may show focal discharges; however, some EEG patterns have been normal (ie, bursts or runs of high-voltage, relatively bilateral synchronous sharp and slow [1-4 Hz] wave activity [either ictally or interictally]).1
  • EEG does not have a well-established role in the diagnosis of PDS. One report suggests that the abnormal EEG is a result of the administration of anticonvulsants to the patient prior to the diagnosis of PDS.12

Procedures

  • Perform a CSF examination (ie, lumbar puncture).

More on Vitamin B-6 Dependency Syndromes

Overview: Vitamin B-6 Dependency Syndromes
Differential Diagnoses & Workup: Vitamin B-6 Dependency Syndromes
Treatment & Medication: Vitamin B-6 Dependency Syndromes
Follow-up: Vitamin B-6 Dependency Syndromes
References
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References

  1. Gupta VK, Mishra D, Mathur I, Singh KK. Pyridoxine-dependent seizures: a case report and a critical review of the literature. J Paediatr Child Health. Dec 2001;37(6):592-6. [Medline].

  2. Baxter P. Pyridoxine-dependent and pyridoxine-responsive seizures. Dev Med Child Neurol. Jun 2001;43(6):416-20. [Medline].

  3. Yoshikawa H, Abe T, Oda Y. Pyridoxine-dependent seizures in an older child. J Child Neurol. Oct 1999;14(10):687-90. [Medline].

  4. Hunt AD Jr, Stokes J Jr, McCrory WW, Stroud HH. Pyridoxine dependency: report of a case of intractable convulsions in an infant controlled by pyridoxine. Pediatrics. Feb 1954;13(2):140-5. [Medline].

  5. Burd L, Stenehjem A, Franceschini LA, Kerbeshian J. A 15-year follow-up of a boy with pyridoxine (vitamin B6)-dependent seizures with autism, breath holding, and severe mental retardation. J Child Neurol. Nov 2000;15(11):763-5. [Medline].

  6. Grillo E, da Silva RJ, Barbato JH Jr. Pyridoxine-dependent seizures responding to extremely low-dose pyridoxine. Dev Med Child Neurol. Jun 2001;43(6):413-5. [Medline].

  7. Kuo MF, Wang HS. Pyridoxal phosphate-responsive epilepsy with resistance to pyridoxine. Pediatr Neurol. Feb 2002;26(2):146-7. [Medline].

  8. Kure S, Sakata Y, Miyabayashi S, et al. Mutation and polymorphic marker analyses of 65K- and 67K-glutamate decarboxylase genes in two families with pyridoxine-dependent epilepsy. J Hum Genet. 1998;43(2):128-31. [Medline].

  9. Battaglioli G, Rosen DR, Gospe SM Jr, Martin DL. Glutamate decarboxylase is not genetically linked to pyridoxine-dependent seizures. Neurology. Jul 25 2000;55(2):309-11. [Medline].

  10. Been JV, Bok LA, Andriessen P, Renier WO. Epidemiology of pyridoxine dependent seizures in the Netherlands. Arch Dis Child. Dec 2005;90(12):1293-6. [Medline].

  11. Baxter P. Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK. Arch Dis Child. Nov 1999;81(5):431-3. [Medline].

  12. Baxter P. Pyridoxine dependent epilepsy: a suggestive electroclinical pattern. Arch Dis Child Fetal Neonatal Ed. Sep 2000;83(2):F163. [Medline].

  13. Plecko B, Paul K, Paschke E, et al. Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. Hum Mutat. Jan 2007;28(1):19-26. [Medline].

  14. Kanno J, Kure S, Narisawa A, et al. Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis. Mol Genet Metab. Aug 2007;91(4):384-9. [Medline].

  15. Ohtsuka Y, Ogino T, Asano T, et al. Long-term follow-up of vitamin B(6)-responsive West syndrome. Pediatr Neurol. Sep 2000;23(3):202-6. [Medline].

  16. Hindley D, Huyton M. Pyridoxine dependent and pyridoxine responsive seizures. Arch Dis Child. Jan 2001;84(1):91-2. [Medline].

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Further Reading

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Keywords

pyridoxine-responsive convulsions, pyridoxine-dependent seizures, pyridoxine dependency–associated seizures, PDS, West syndrome, homocystinuria, myoclonic epilepsy, hemolytic-uremic syndromes, pyridoxal, pyridoxamine, pyridoxine deficiency, pyridoxine–deficient seizures, pyridoxine deficiency–associated seizures, vitamin B6, vitamin B6, vitamin B-6, nuts, meats, isoniazid, inborn disorder of metabolism, perinatal asphyxia , hypoxic-ischemia encephalopathy, tonic-clonic seizures, acute abdominal obstruction, respiratory distress, hydrocephalus

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Contributor Information and Disclosures

Author

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.

Coauthor(s)

Michael D Nissen, MBBS, BMedSc, 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
Michael D Nissen, MBBS, BMedSc, FRACP, FRCPA is a member of the following medical societies: American Academy of Pediatrics, American Society for Microbiology, Pediatric Infectious Diseases Society, Royal Australasian College of Physicians, and Royal College of Pathologists of Australasia
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.

Judith A Wilcox, BSc, Director of Nutrition and Dietetics, Royal Children's Hospital, Australia
Disclosure: Nothing to disclose.

Medical Editor

Steven M Schwarz, MD, FAAP, FACN, AGAF, Professor of Pediatrics, State University of New York, Downstate Medical Center College of Medicine; Distinguished Lecturer, New York Medical College, School of Public Health
Steven M Schwarz, MD, FAAP, FACN, AGAF is a member of the following medical societies: American Academy of Pediatrics, American College of Nutrition, American College of Physician Executives, American Gastroenterological Association, American Pediatric Society, Gastroenterology Research Group, New York Academy of Medicine, North American Society for Pediatric Gastroenterology and Nutrition, and Society for Pediatric Research
Disclosure: TAP Pharmaceuticals Honoraria Speaking and teaching; Curemark, LLC Consulting fee Board membership

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 broker recommendation; Avanir Pharma Stock Investment from broker recommendation

Managing Editor

Jatinder Bhatia, MBBS, Professor of Pediatrics, Chief, Section of Neonatology, Department of Pediatrics, Medical College of Georgia
Jatinder Bhatia, MBBS is a member of the following medical societies: American Academy of Pediatrics, American Association for the Advancement of Science, American Dietetic Association, American Federation for Clinical Research, American Pediatric Society, American Society for Clinical Nutrition, American Society for Parenteral and Enteral Nutrition, New York Academy of Sciences, Society for Pediatric Research, and Southern Society for Pediatric Research
Disclosure: Mead Johnson Consulting fee Consulting; Mead Johnson Honoraria Speaking and teaching; Dey LP Consulting fee Consulting; Dey LP Honoraria Speaking and teaching; Ovation Honoraria Speaking and teaching

CME Editor

Merrily P M Poth, MD, Professor, Department of Pediatrics and Neuroscience, Uniformed Services University of the Health Sciences
Merrily P M Poth, MD is a member of the following medical societies: American Academy of Pediatrics, Endocrine Society, and Lawson-Wilkins Pediatric Endocrine Society
Disclosure: Nothing to disclose.

Chief Editor

Jatinder Bhatia, MBBS, Professor of Pediatrics, Chief, Section of Neonatology, Department of Pediatrics, Medical College of Georgia
Jatinder Bhatia, MBBS is a member of the following medical societies: American Academy of Pediatrics, American Association for the Advancement of Science, American Dietetic Association, American Federation for Clinical Research, American Pediatric Society, American Society for Clinical Nutrition, American Society for Parenteral and Enteral Nutrition, New York Academy of Sciences, Society for Pediatric Research, and Southern Society for Pediatric Research
Disclosure: Mead Johnson Consulting fee Consulting; Mead Johnson Honoraria Speaking and teaching; Dey LP Consulting fee Consulting; Dey LP Honoraria Speaking and teaching; Ovation Honoraria Speaking and teaching

 
 
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