Beriberi cardiomyopathy.

In Indonesia beriberi is still endemic, but subclinical cases are not uncommon. Three patients suffering from beriberi presented with different clinical manifestations. One had the classical features of Shoshin beriberi and the other two had the non-alcoholic cardiac beriberi (chronic type). The cardiac symptoms of all three patients responded dramatically to thiamine tetrahydrofurfuryl disulfide; there was also some improvement of their polyneuropathy, consistent with the neurophysiologic findings and somatosensory evoked potentials (SSEPs). We conclude that SSEPs provide additional clinical information on beriberi polyneuropathy. The mortality of untreated cardiovascular beriberi is high. In view of the harmless nature of the treatment, a good case could be made for routine administration of thiamine to all patients in whom heart failure is present without clear evidence of the cause.     

Postgastrectomy polyneuropathy with thiamine deficiency is identical to beriberi neuropathy

OBJECTIVE: We assessed whether postgastrectomy polyneuropathy associated with thiamine deficiency is clinicopathologically identical to beriberi neuropathy, including a biochemical determination of thiamine status. METHODS: Clinicopathologic features of 17 patients who had postgastrectomy polyneuropathy with thiamine deficiency were compared with those of 11 patients who had thiamine-deficiency neuropathy caused by dietary imbalance. RESULTS: The typical presentation for the two etiologies was as a symmetric sensorimotor polyneuropathy predominantly involving the lower limbs. A variety of clinical features, including neuropathic symptoms, progression, and coexistence of heart failure or Wernicke's encephalopathy, was seen similarly in both conditions. In both groups, the main electrophysiologic findings were those of axonal neuropathy, most prominently in the lower limbs. Sural nerve biopsy specimens also indicated axonal degeneration in both groups. Subperineurial edema was commonly observed. CONCLUSION: This study showed that thiamine-deficiency neuropathies due to gastrectomy and dietary imbalance are identical despite variability in their clinicopathologic features and suggested that thiamine deficiency can be a major cause of postgastrectomy polyneuropathy.     

Rapidly developing weakness mimicking Guillain-Barré syndrome in beriberi neuropathy: two case reports

OBJECTIVE: We examined the diagnostic difficulty in thiamine deficiency. METHODS: We report on two patients with polyneuropathy associated with thiamine deficiency (i.e., beriberi neuropathy) that presented with acute motor symptoms mimicking Guillain-Barré syndrome. RESULTS: The cause of the thiamine deficiency was associated with gastrectomy to treat cancer in a 46-y-old man and with dietary imbalance in a 33-y-old man. The thiamine deficiency was not related to alcohol intake in either patient. In both patients, the upper and lower extremities showed a rapidly progressive weakness over the course of 1 mo. Muscle weakness in the first patient progressed even after admission to the hospital, and urinary retention, Wernicke's encephalopathy, lactic acidosis, paralytic ileus, and heart failure appeared subsequently. Clinical symptoms in both patients showed improvement after initiation of thiamine administration, although some residual deficit remained. CONCLUSION: Thiamine deficiency must be actively considered as a possible cause of polyneuropathy, and variability in its clinical features should be taken into consideration.     

Thiamine deficiency and beriberi features in a patient with hyperemesis gravidarum

Wernicke's encephalopathy has been sporadically reported in patients with severe hyperemesis gravidarum. We report a new case of Wernicke's encephalopathy in a patient who had hyperemesis gravidarum associated with signs and symptoms of dry and wet beriberi. The case was managed with very large doses of thiamine. The conclusion was that, in long-lasting hyperemesis gravidarum, recognizing signs of beriberi may help prevent the onset of Wernicke's encephalopathy, thanks to timely therapy with thiamine supplements. A thiamine therapy similar to the one reported in this article could prove useful in long-lasting hyperemesis gravidarum complicated by Wernicke's encephalopathy.     

Dry beriberi: unusual complication of prolonged parenteral nutrition.

An adult with Crohn's disease on home total parenteral nutrition (TPN) for 8 months presented with peripheral neuropathy and ataxia. The patient was found to be deficient of thiamine. A prompt symptomatic response to intravenous thiamine suggests that the patient had the chronic form of dry beriberi. To our knowledge, this variety of beriberi in a patient on TPN has not previously been reported.     

Carbonated drinks, thiamine deficiency and right ventricular failure

A 69 year old male presented with clinical features of right ventricular failure. A dilated poorly contracting right ventricle was confirmed by echocardiography and radionuclide ventriculography, with subsequent improvement following thiamine replacement. Wet beriberi is a result of thiamine deficiency and is uncommon in Europe and North America except in association with chronic alcohol abuse. We report a patient with beriberi presenting unusually with severe right-sided cardiac failure, with documented impairment of right ventricular function, which improved with thiamine replacement. His dietary intake of thiamine was low because of excess intake of carbonated drinks and carbohydrates.     

Animal experiments on thiamine avitaminosis and cerebral function.

Before industrial production of thiamine becam possible, among many beriberi patients some showed symptoms of encephalopathy, the cerebral form of the disease. In this animal experiment, thiamine-deficient rats showed failure or blocking of the operant behavior in the maze box, pole climbing box and shuttle box, indicating orientation disturbance and defective memory. This Wernicke's syndrome-like sign dramatically disappeared by treatment with thiamine. Potentiated narcosis with thiopental or alcohol induced in thiamine-deficient rats and mice was readily reversible by thiamine administration. These phenomena are associated with thiamine content of the brain and are found long before histopathological changes in the brain of deficient animals. It is easily surmised that thiamine deficiency in the brain may block the brain metabolism and subsequently cause changes in any chemical substances in the brain, refracting on biophysical phenomenon, such as EEG. However, in the present study, generally speaking, no meaningful results concerning these points were obtained.     

Beriberi after bariatric surgery

Bariatric surgery is in general the only effective treatment for morbid obesity. Bariatric surgery is frequently associated with vitamin and mineral deficiencies which may lead to neurological and other symptoms. We describe a case of severe vitamin B1 (thiamine) deficiency. CASE DESCRIPTION: A 49-year-old man visited the emergency department with acute confusion, muscle weakness in arms and legs and visual impairment after a period of dysphagia and recurrent vomiting. Four months earlier, he had had bariatric gastric sleeve surgery for morbid obesity. Laboratory tests demonstrated that he had vitamin B1 deficiency, in view of which the diagnosis of beriberi and Wernicke encephalopathy was made. Despite normalisation of the vitamin B1 concentration following intravenous supplementation, the muscle strength hardly recovered and the patient developed Korsakov syndrome. CONCLUSION: For this deficiency there is no other treatment than vitamin B1 supplementation. Timely recognition of vitamin deficiencies and pro-active supplementation are essential in order to prevent serious complications following bariatric surgery.     

Shoshin beriberi provoked by the inhalation of salbutamol

A 45-year-old male alcoholic with a deficient diet was given salbutamol for exertion-related dyspnoea. After inhalation, he presented with a severe dyspnoea, acrocyanosis, anuria and low blood pressure as well as a respiratory compensated lactate acidosis. Shoshin beriberi was suspected on clinical grounds. The low level of thiamine and the prompt recovery after thiamine repletion confirmed this diagnosis. Shoshin beriberi is an acute, cardiac form of beriberi, which can rapidly result in death due to cardiogenic shock and lactate acidosis. Adrenergic agents can cause a hyperdynamic circulation and thus aggravate the effects of a thiamine deficiency.     

Analysis of thiamine transporter genes in sporadic beriberi

ObjectiveThiamine or vitamin B₁ deficiency diminishes thiamine-dependent enzymatic activity, alters mitochondrial function, impairs oxidative metabolism, and causes selective neuronal death. We analyzed for the first time, the role of all known mutations within three specific thiamine carrier genes, SLC19 A2, SLC19 A3, and SLC25 A19, in a patient with atrophic beriberi, a multiorgan nutritional disease caused by thiamine deficiency.MethodsA 44-year-old male alcoholic patient from Morocco developed massive bilateral leg edema, a subacute sensorimotor neuropathy, and incontinence. Despite normal vitamin B₁ serum levels, his clinical picture was rapidly reverted by high-dose intramuscular thiamine treatment, suggesting a possible genetic resistance. We used polymerase chain reaction followed by amplicon sequencing to study all the known thiamine-related gene mutations identified within the Human Gene Mutation Database.ResultsThirty-seven mutations were tested: 29 in SLC19 A2, 6 in SLC19 A3, and 2 in SLC25 A19. Mutational analyses showed a wild-type genotype for all sequences investigated.ConclusionThis is the first genetic study in beriberi disease. We did not detect any known mutation in any of the three genes in a sporadic dry beriberi patient. We cannot exclude a role for other known or unknown mutations, in the same genes or in other thiamine-associated genes, in the occurrence of this nutritional neuropathy.     

Postpartum thiamine deficiency in a Karen displaced population.

BACKGROUND: Before its recognition, infantile beriberi was the leading cause of infant death in camps for displaced persons of the Karen ethnic minority on Thailand's western border. OBJECTIVE: This study aimed to document thiamine status in the peripartum period to examine the current supplementation program and the correlation between the clinical manifestations of thiamine deficiency and a biochemical measure of thiamine status. DESIGN: Women were enrolled prospectively at 30 wk of gestation and were followed up weekly until delivery and at 3 mo postpartum. Thiamine supplementation during pregnancy was based on patient symptoms. RESULTS: At 3 mo postpartum, thiamine deficiency reflected by an erythrocyte transketolase activity (ETKA) > or = 1.20% was found in 57.7% (15/26) of mothers, 26.9% (7/26) of whom had severe deficiency (ETKA > 1.25%). No significant associations between ETKA and putative maternal symptoms or use of thiamine supplements were found. CONCLUSIONS: Biochemical postpartum thiamine deficiency is still common in Karen refugee women. This situation may be improved by educating lactating women to reduce their consumption of thiaminase-containing foods and by implementing an effective thiamine supplementation program.     

Are brain and heart tissue prone to the development of thiamine deficiency?

Thiamine deficiency is a continuing problem leading to beriberi and Wernicke's encephalopathy. The symptoms of thiamine deficiency develop in the heart, brain and neuronal tissue. Yet, it is unclear how rapid thiamine deficiency develops and which organs are prone to development of thiamine deficiency. We investigated these issues in a thiamine deficient animal model. Twenty-four male Lewis rats were fed a thiamine deficient diet, which contained 0.04% of normal thiamine intake. Six control rats were fed 200 μg of thiamine per day. Every week a group of six rats on the thiamine-deficient diet was sacrificed and blood, urine and tissue were stored. Blood and tissue transketolase activity, thiamine and thiamine metabolites were measured and PCR of thiamine transporter-1 (ThTr-1) was performed. Transketolase activity was significantly reduced in red blood cells, liver, lung, kidney and spleen tissue after two weeks of thiamine deficient diet. In brain tissue, transketolase activity was not reduced after up to four weeks of thiamine deficient diet. The amount of thiamine pyrophosphate was also significantly conserved in brain and heart tissue (decrease of 31% and 28% respectively), compared to other tissues (decrease of ∼70%) after four weeks of thiamine deficient diet. There was no difference between tissues in ThTr-1 expression after four weeks of thiamine deficient diet. Despite the fact that the heart and the brain are predilection sites for complications from thiamine deficiency, these tissues are protected against thiamine deficiency. Other organs could be suffering from thiamine deficiency without resulting in clinical signs of classic thiamine deficiency in beriberi and Wernicke's encephalopathy.     

Infantile thiamine deficiency in South and Southeast Asia: An age‐old problem needing new solutions

Infantile beriberi, a potentially fatal disorder caused by thiamine deficiency, is often viewed as a disease confined to history in regions of the world with predominant white rice consumption. Recent case reports have, however, highlighted the persistence of thiamine deficiency as a cause of infant mortality in South and Southeast Asia. Low infant thiamine status and incidence of beriberi is attributable to maternal thiamine deficiency and insufficient breast milk thiamine. Poor dietary diversity, food preparation and cooking practices and traditional post‐partum food restrictions likely play a role in these high‐risk regions. Given the contribution of thiamine deficiency to infant mortality and emerging evidence of long‐lasting neurodevelopmental deficits of severe and even subclinical deficiency in early life, public health strategies to prevent thiamine deficiency are urgently needed. However, efforts are hampered by uncertainties surrounding the identification and assessment of thiamine deficiency, due to the broad non‐specific clinical manifestations, commonly referred to as thiamine deficiency disorders (TDD), that overlap with other conditions resulting in frequent misdiagnosis and missed treatment opportunities, and secondly the lack of readily available and agreed upon biomarker analysis and cut‐off thresholds. This review will discuss the key challenges and limitations in the current understanding of TDD and explore how ongoing initiatives plan to fill persistent knowledge gaps, namely in the development of a standardised case definition to help more accurately diagnose and treat TDD in low‐resource settings. Given more attention and ensuring greater recognition of TDD will support the design and implementation of treatment and prevention programmes, and ensure beriberi can truly be considered ‘the forgotten disease of Asia’.     

Outbreak of beriberi among illegal mainland Chinese immigrants at a detention center in Taiwan

OBJECTIVE: The authors describe an outbreak of beriberi in a detention center in Taiwan and examine risk factors for illness. METHODS: A survey was conducted among a sample of 176 randomly selected detainees. A menu-assisted dietary recall method was used to obtain diet information from nine hospitalized detainees. A probable case patient was defined as an individual who had at least two of the following characteristics: leg edema, weakness of the extremities, poor appetite, and dyspnea. Possible case patients were those who had only one of these characteristics. RESULTS: Of the 176 survey respondents, 19% were classified as probable case patients and 40% as possible case patients. The mortality rate based on probable cases was 1.1%. Body Mass Index (BMI) was negatively associated with illness (p < 0.0001), and length of stay in the detention center was independently positively associated with illness (p < 0.05). The average intake of dietary thiamine among the nine hospitalized case patients who completed three-day dietary recall surveys was 0.49 +/- 0.1 mg/day. After thiamine administration, all symptoms and signs of beriberi resolved. CONCLUSION: This outbreak is a reminder of the importance of ensuring adequate diets for poor, institutionalized, or refugee populations who are unable to supplement their diets.     

Severe acute metabolic acidosis (acute beriberi): an avoidable complication of total parenteral nutrition

Total parenteral nutrition is one of the most important recent advances in medicine. The delivery of total parenteral nutrition, however, can be associated with a broad spectrum of complications ranging from mechanical (catheter related) to metabolic. We have recently seen a previously unreported complication of total parenteral nutrition - three patients maintained on total parenteral nutrition, who did not receive vitamins and experienced the acute onset of life-threatening metabolic acidosis with pH values as low as 6.70. All responded promptly and completely to the administration of intravenous thiamine, and thus were probably examples of acute beriberi. Acute beriberi is a well-documented syndrome which usually occurs in nutritionally compromised individuals outside the hospital setting who lack thiamine in their diet. Without thiamine, glucose cannot enter the Krebs cycle in order to be completely oxidized for energy production and therefore, accumulates as lactic acid. This lactic acidosis is refractory to any treatment except thiamine and will result in cardiovascular collapse if the vitamin is not administered.     

Retrograde axonal transport in chronic ethanol-fed and thiamine-deficient rats.

Retrograde axonal transport may play an important role in the feedback regulation of protein synthesis in neuronal perikarya, and the anterograde axonal transport of protein. The "dying-back" neuropathies associated with thiamine deficiency and chronic alcoholism may arise as a consequence of altered axonal transport. We have reported alterations in fast anterograde axonal transport in rats as a result of ethanol exposure or thiamine deficiency. The present studies were undertaken to determine whether retrograde transport was also affected by these experimental treatments. One group of rats was fed a liquid diet containing 6.7% ethanol for 16 weeks. Another group of rats was made thiamine deficient with a thiamine-free diet for 4 weeks. Retrograde axonal transport was labeled by injecting the left sciatic nerve unilaterally with 3H-N-succinimidyl propionate. This compound covalently labels proteins in the nerve at the site of injection and is accumulated by retrograde axonal transport to sensory nerve cell bodies in the dorsal root ganglia and motor nerve cell bodies in the spinal cord. After 7 days, dorsal root ganglia of chronic ethanol-fed rats showed a significant 45% decrease in the amount of accumulated retrograde label compared to controls. No significant differences in accumulation were found in the spinal cords. These results suggest that the peripheral neuropathies caused by chronic alcoholism and thiamine deficiency follow different etiologies, and that motor and sensory fibers are affected differently by ethanol.     

Acute beriberi following liver transplantation

Patients scheduled for orthotopic liver transplantation (OLT) undergo extensive routine preoperative cardiac assessment. We describe a 32-year-old male who underwent uneventful OLT for endstage liver failure on the basis of chronic hepatitis C and alcoholism. Despite a normal preoperative cardiac workup, the patient developed acute pulmonary edema on the second postoperative day. A diagnosis of beriberi was entertained and confirmed by (1) the thiamine diphosphate effect and (2) the dramatic response to intravenous thiamine. Possible precipitating factors are described. Thiamine, which has no significant toxicity, should probably be routinely supplemented in all patients undergoing OLT, especially those with a previous history of alcohol abuse.     

The significance of folate deficiency in alcoholic and nutritional neuropathies: analysis of a case

ObjectiveTo elucidate the significance of folate deficiency in alcoholic and nutritional neuropathies.MethodsWe preformed a comprehensive clinical screening of a patient with chronic alcoholism who manifested neuropathy, macrocytic anemia, liver dysfunction, and folate deficiency.ResultsA 33-y-old woman with chronic alcoholism presented with acutely progressive glove- and stocking-type sensorimotor polyneuropathy. Although an episode of neuropathy preceded the current episode by 2 y, its cause was never determined. The findings of nerve conduction studies were indicative of axonal neuropathy. Laboratory findings revealed macrocytic anemia and liver dysfunction. Her serum level of folate was reduced, whereas thiamine, riboflavin, and cobalamin levels were within normal range. The neuropathy and anemia showed gradual recovery after the initiation of folic acid supplementation.ConclusionsThis case study indicates that folate deficiency should be monitored closely in patients with chronic alcoholism and associated malnutrition. Additionally, folate deficiency should be considered as a differential diagnosis of neuropathy.     

Guideline on polyneuropathy

In the Netherlands, approximately 100,000-400,000 people suffer from polyneuropathy. Polyneuropathy has many different causes, diabetes mellitus being the most frequent one. The practice guideline 'Polyneuropathy' describes the diagnostic procedure in patients with signs or symptoms of polyneuropathy that need to be followed in order to identify the cause of the condition. After history taking and neurological examination, the diagnosis ofpolyneuropathy can be made with a high degree of accuracy. Electrophysiological investigation may be of help, especially in classifying an axonal or demyelinating form of polyneuropathy. This subclassification is important because it helps to identify possibly treatable forms ofpolyneuropathy. Most polyneuropathies follow a slowly progressive course. If the course of the polyneuropathy deviates from what is to be expected, neurological consultation and additional diagnostic tests should be performed. A diagnostic flowchart has been designed to serve as a practical guide to an effective and rapid procedure to diagnose the cause of a polyneuropathy. Amitryptiline and carbamazepine have been proven to be effective and are the drugs of first-choice, except in HIV-related polyneuropathy, in which case only lamotrigine has been proven effective.     

A case of Korsakoff's syndrome improved by high doses of donepezil.

We present a case of Korsakoff's syndrome that was successfully treated with high doses of donepezil, an inhibitor of acetylcholine esterase, known to retard the progress of symptoms in Alzheimer's disease. The patient was a 46-year-old married Japanese woman who began to drink alcohol after she married. After several years of drinking she developed typical symptoms of the Korsakoff syndrome. Donepezil was started after treatment with thiamine or thiamine plus fluvoxamine had failed. Her amnestic symptoms as well as her quality of life improved markedly during donepezil treatment. Inhibition of acetylcholine esterase may be an effective treatment for Korsakoff's syndrome.