eMedicine Specialties > Pediatrics: General Medicine > Nutrition
Beriberi: Differential Diagnoses & Workup
Updated: Sep 18, 2009
- Overview
- Differential Diagnoses & Workup
- Treatment & Medication
- Follow-up
- Multimedia
Differential Diagnoses
| Alcoholic Ketoacidosis | Hyperthyroidism |
| Anemia | Infantile Kwashiorkor |
| Cardiomyopathy, Alcoholic | Infantile Seizures |
| Cardiomyopathy, Peripartum | Infantile Vocal Cord Paralysis |
| Cirrhosis | Lactic Acidosis |
| Congenital Heart Disease | Leigh Disease |
| Cyanotic Heart Disease | Leprosy |
| Delirium | Malnutrition |
| Delirium Tremens | Meningitis |
| Delusional Disorder | Metabolic Acidosis |
| Dementia | Mood Disorder: Depression |
| Dermatomyositis | Myocarditis, Nonviral |
| Diabetic Ketoacidosis | Myocarditis, Viral |
| Drug Intoxication | Neonatal Sepsis |
| Eating Disorder: Anorexia | Nerve Entrapment Syndromes |
| Encephalitis | Pulmonary Hypertension, Idiopathic |
| Encephalopathy | Respiratory Failure |
| Folic Acid Deficiency | Syphilis |
| Goiter, Diffuse Toxic | Thyroiditis, Subacute |
| Guillain-Barre Syndrome in Childhood | Trigeminal Neuralgia |
| Heart Failure | |
| Heart Failure, Congestive | |
| Heart Failure, High Output |
Other Problems to Be Considered
- The differential diagnosis is very wide because different organ systems can be affected in different individuals.
- Other vitamin deficiencies (vitamin B-12, niacin) can coexist with beriberi and can also contribute to the neurologic symptoms.
- In cardiac failure, the differential diagnosis varies depending on the age group; congenital diseases and infections are most important in infants and children.
- A high index of suspicion is needed for patients with chronic alcohol abuse, special diets, malabsorption, malnutrition, chronic dialysis, and diuretic use.
- A high prevalence of the infantile form of beriberi with overlapping features of Leigh disease has been recognized in India. Infants in this cohort suffered from life-threatening CNS and respiratory symptoms that responded dramatically after thiamine infusion. Most patients had low transketolase activity but ironically brain imaging studies showed characteristic lesions and residual damage that prompted a differential diagnosis of Leigh disease.16
Workup
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).17
- 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).18
- Unexplained lactic acidosis that persists after fluid bolus should prompt consideration of beriberi.
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.16
- MR spectroscopy (MRS) reveals a characteristic lactate peak.
Other Tests
- Diffuse slowing of the EEG can be observed.
Procedures
- An intravenous push of thiamine is recommended in a deteriorating patient who has features suggestive of beriberi.
Histologic Findings
- The histologic lesions of wet beriberi have been reported to be due to degeneration of myelin in the muscular sheaths without inflammation.
More on Beriberi |
| Overview: Beriberi |
 Differential Diagnoses & Workup: Beriberi |
| Treatment & Medication: Beriberi |
| Follow-up: Beriberi |
| Multimedia: Beriberi |
| References |
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References
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Further Reading
Keywords
thiamine deficiency, vitamin B-1 deficiency, vitamin B1, aneurin deficiency, Shoshin syndrome, occidental beriberi, endemic neuritis, kakké, panneuritis endemica, beriberi, wet beriberi, edematous cardiovascular dysfunction, dry beriberi, multifocal peripheral neurologic dysfunction, dietary thiamine deficiency, thiamine pyrophosphate, TPP, myocardial tissue edema, malnutrition, malabsorption syndromes, hyperemesis gravidarum, lymphoma, congestive heart failure, milled rice, mitochondrial myopathy, infantile beriberi, tachycardia, low diastolic pressure, cardiomegaly, pulmonary edema, cyanosis, peripheral edema, pulmonary effusions, polyneuritis, paralysis, encephalopathy, Korsakoff syndrome, Wernicke-Korsakoff syndrome, sudden infant death syndrome, SIDS, hepatomegaly, ataxia, nystagmus, ptosis, ophthalmoplegia, delirium, retrograde amnesia
