Pediatric Beriberi Workup

  • Author: Simon S Rabinowitz, MD, PhD, FAAP; Chief Editor: Jatinder Bhatia, MBBS   more...
 
Updated: Apr 16, 2012
 

Laboratory Studies

  • The most rapid, and thus the best diagnostic test for beriberi in urgent situations, is observing a clinical response to administration of intravenous thiamine (few hours duration).[19]
  • The most reliable in vitro laboratory tests involve measurement of whole blood or erythrocyte transketolase activity.
    • An enhancement of enzymatic activity from the in vitro addition of thiamine pyrophosphate (TPP) is referred to as the TPP effect.
    • An increase in the enzymatic activity of more than 15% strongly supports the diagnosis of thiamine deficiency.
    • A depressed blood level of thiamine can be seen.
  • Elevated measurements of the following substances are characteristically noted because their metabolism depends on enzymes that have thiamine as their cofactors:
    • Pyruvate
    • Alpha-ketoglutarate
    • Lactate
    • Glycosylate
  • Additional investigations that have been proposed as diagnostic tests include the following:
    • Urinary thiamine
    • Thiamine metabolites (thiazole or pyrimidine)
    • Methylglyoxal values
  • Recent advances in technology has shown that thiamine concentration can also be determined in whole blood using high-performance liquid chromatography (HPLC).[20]
  • Unexplained lactic acidosis that persists after fluid bolus should prompt consideration of beriberi.
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Imaging Studies

  • The Israeli infants who received the thiamine-deficient formula form the basis for the pediatric MRI descriptions in this condition. These infants had involvement of the frontal lobes and basal ganglia, in addition to the lesions present in the periaqueductal region, thalami, and the mammillary bodies that have been described in adults. The lesions that have been noted were described as symmetric and hyperdense. Brainstem involvement was noted. In small numbers of patients severe frontal damage was noted in long term follow-up with a loss of parenchyma and atrophy of the basal ganglia and thalami in some.[18]
  • MR spectroscopy (MRS) reveals a characteristic lactate peak.
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Other Tests

  • Diffuse slowing of the EEG can be observed.
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Procedures

  • An intravenous push of thiamine is recommended in a deteriorating patient who has features suggestive of beriberi.
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Histologic Findings

  • The histologic lesions of wet beriberi have been reported to be due to degeneration of myelin in the muscular sheaths without inflammation.
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Proceed to Treatment & Management
 
 
Contributor Information and Disclosures
Author

Simon S Rabinowitz, MD, PhD, FAAP  Professor of Clinical Pediatrics, Vice Chairman, Clinical Practice Development, Pediatric Gastroenterology, Hepatology, and Nutrition, State University of New York Downstate College of Medicine, The Children's Hospital at Downstate

Simon S Rabinowitz, MD, PhD, FAAP is a member of the following medical societies: American Academy of Pediatrics, American Association for the Advancement of Science, American College of Gastroenterology, American Gastroenterological Association, American Medical Association, New York Academy of Sciences, North American Society for Pediatric Gastroenterology and Nutrition, Phi Beta Kappa, and Sigma Xi

Disclosure: Abbott nutrition Honoraria Speaking and teaching

Coauthor(s)

L Arturo Batres, MD  Assistant Professor, Department of Pediatrics, Division of Gastroenterology and Nutrition, The Children's Hospital of the King's Daughters

L Arturo Batres, MD is a member of the following medical societies: American Academy of Pediatrics, American Association for the Study of Liver Diseases, American Gastroenterological Association, and North American Society for Pediatric Gastroenterology and Nutrition

Disclosure: Nothing to disclose.

Sheela Moorthy, MD  Staff Physician, Department of Pediatrics, Richmond University Medical Center

Disclosure: Nothing to disclose.

Specialty Editor Board

Maria Rebello Mascarenhas, MBBS  Associate Professor of Pediatrics, University of Pennsylvania School of Medicine; Section Chief of Nutrition, Division of Gastroenterology and Nutrition, Director, Nutrition Support Service, Children's Hospital of Philadelphia

Maria Rebello Mascarenhas, MBBS is a member of the following medical societies: American Gastroenterological Association, American Society for Parenteral and Enteral Nutrition, and North American Society for Pediatric Gastroenterology and Nutrition

Disclosure: Nothing to disclose.

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  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 Pediatric Society, American Society for Clinical Nutrition, American Society for Parenteral and Enteral Nutrition, Society for Pediatric Research, and Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

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 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 Pediatric Society, American Society for Clinical Nutrition, American Society for Parenteral and Enteral Nutrition, Society for Pediatric Research, and Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

Additional Contributors

The authors gratefully acknowledge Dori Harasek for her assistance in the preparation of this chapter.

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