Case Report: Fulminant Infantile Beriberi: A Report of Six Cases.

Thiamine deficiency disorders are an under-recognized public health problem in low- and middle-income countries. Infantile beriberi, the most important symptom for children, is suspected to significantly contribute to infant mortality and lifelong neurodevelopmental morbidity. Lack of awareness, varied clinical presentation, and lack of a readily available diagnostic marker lead to frequent misdiagnoses. We report six thriving infants who presented with an acute fulminant illness with varied clinical manifestations mimicking common childhood illnesses like pneumonia and sepsis. Four of them presented with the severe cardiovascular form, called Shoshin beriberi, and severe pulmonary arterial hypertension. Empirical intravenous thiamine administered to four of the six infants resulted in dramatic recovery. Awareness of the clinical definition of infantile beriberi and treatment with empirical thiamine can be lifesaving.

Pathophysiology, prevention, and treatment of beriberi after gastric surgery.

Beriberi is a nutritional complication of gastric surgery, caused by deficiency of vitamin B1, or thiamine. Thiamine deficiency leads to impaired glucose metabolism, decreased delivery of oxygen by red blood cells, cardiac dysfunction, failure of neurotransmission, and neuronal death. This review describes the history and pathophysiology of beriberi as well as the relationship between beriberi and nutritional deficiencies after gastric surgery. A literature review of the history and pathophysiology of beriberi and the risk factors for thiamine deficiency, particularly after gastric resection or bariatric surgery, was performed. Recommendations for nutritional follow-up post gastric surgery are based on current national guidelines. Patients may have subclinical thiamine deficiency after upper gastrointestinal surgery, and thus beriberi may be precipitated by acute illness such as sepsis or poor dietary intake. This may occur very soon or many years after gastrectomy or bariatric surgery, even in apparently well-nourished patients. Prompt recognition and administration of supplemental thiamine can decrease morbidity and mortality in patients with beriberi. Dietary education post surgery and long-term follow-up to determine nutritional status, including vitamin and mineral assessment, is recommended for patients who undergo gastric surgery.

Development and Characterization of Monoclonal Antibodies for the Mycotoxin Citreoviridin.

Citreoviridin (CTV) in an inhibitor of mitochondrial ATPase that has been isolated from molded yellow rice and linked to the human disease Shoshin-kakke (acute cardiac beriberi). The disease results from a deficiency of thiamine, however, purified CTV can reproduce the symptoms in experimental animals. The link between CTV and Shoshin-kakke has been difficult to resolve, in part because cases of the disease are rare. In addition to rice, CTV has been found in maize, pecan nuts, and wheat products. A method to screen for CTV and its geometric isomer, iso-CTV, in commodities was developed, based upon the isolation of two novel monoclonal antibodies (mAb). In an antigen-immobilized competitive enzyme-linked immunosorbent assay format (CI-ELISA), the observed IC50s for CTV were 11 ng/mL and 18 ng/mL (mAbs 2-2 and 2-4, respectively). The assays were relatively tolerant to methanol and acetonitrile, which allowed their application to the detection of CTV in spiked polished white rice. For quantification, a standard mixture of CTV and iso-CTV was used, along with matrix matched calibration. The dynamic range of the ELISA using mAb 2-4 was equivalent to 0.23 to 2.22 mg/kg in rice. Recoveries over the range of 0.36 to 7.23 mg/kg averaged 97 ± 10%. The results suggest that the mAb 2-4-based immunoassay can be applied to the screening of white rice for CTV. Both mAbs were also observed to significantly enhance the fluorescence of the toxin.

Atypical presentation of a forgotten disease: refractory hypotension in beriberi.

BACKGROUND/OBJECTIVES: Thiamine deficiency is a treatable disease with an excellent prognosis. However, it is often unrecognized because of the diversity of its clinical presentations. SUBJECTS/METHODS: Herein, we report two atypical cases of nonalcoholic thiamine deficiency that presented with refractory hypotension in the absence of lactic acidosis. RESULTS: Case 1 developed recurrent hypotension, right-sided heart failure, and a classic triad of Wernicke's encephalopathy (WE) after gastrointestinal surgery. Case 2 had decreased dietary intake and diuretic abuse, and had multiple episodes of syncope prior to present admission with refractory hypotension and mental status changes. The diagnosis of both cases was confirmed by undetectable pretreatment serum thiamine and dramatic improvement with thiamine replacement. CONCLUSIONS: In this report, we highlight refractory hypotension as a complication of, not only cardiovascular, but also neurologic beriberi. Moreover, thiamine replacement should be considered without delay in hypotensive patients with signs of WE and/or risk factors for beriberi.

Acute flaccid paralysis: Do not forget beriberi neuropathy.

We aimed to elucidate characteristics of beriberi neuropathy (BB) in a general hospital (GH) setting. Nerve conduction studies (NCS), cross-referenced with clinical records of patients admitted to a GH (May 2011-July 2017), were reviewed for diagnosis of BB. Thirteen patients (age range 23-64 years; five women) were diagnosed with BB. Eleven were incarcerated (2-24 months) at time of index event. Eleven reported prior, severe anorexia (2-6 months); five reported significant weight loss, three had recurrent vomiting, and three reported alcohol misuse. Commonest presentation was weakness (12/13); nine had symptom evolution over ≥3 weeks. At nadir, 11/13 could not walk independently. Other features included numbness/paraesthesiae (10/13), dysautonomia (6/13), vocal cord dysfunction/dysphagia (4/13), nystagmus (3/13). Pain was not prominent. Cerebrospinal fluid, tested in five patients, was acellular; one showed mildly increased protein. NCS showed predominantly sensorimotor, axonal polyneuropathy, rarely asymmetric. Only one patient had sural-sparing pattern. All received high dose thiamine. Two of the thirteen received intravenous immunoglobulin for suspicion of Guillain-Barré syndrome (GBS). Eleven improved to independent ambulation. One patient died from pulmonary embolism; one was lost to follow-up. Two of the thirteen had residual neurocognitive effects; both misused alcohol. Besides GBS, BB is an important cause of acute to subacute flaccid paralysis, especially in incarcerated patients and those with significant dietary deprivation. Features favoring BB over GBS are ≥3 weeks of symptoms, nystagmus, confusion, vocal cord dysfunction, volume overload, normal spinal fluid, elevated lactate, and absence of sural-sparing pattern in NCS.

Gastrointestinal beriberi: a forme fruste of Wernicke's encephalopathy?

Gastrointestinal symptoms, such as anorexia, nausea, vomiting and abdominal pain, are very common in patients with Wernicke's encephalopathy (WE). Mild thiamine deficiency may have only gastrointestinal symptoms. We are reporting two patients with thiamine deficiency who predominantly had gastrointestinal symptoms. Case 1: a 38-year-old man had gastrointestinal problems for about 2-3 years. It gradually became severe. The patient came to the neurology outpatient department for his recent-onset vertigo and headache. Clinical examinations fulfilled Caine's criteria of WE. Gastrointestinal symptoms responded dramatically to intravenous thiamine. Case 2: a 21-year-old woman developed drug-induced hepatitis and gastritis. Associated nausea, vomiting and abdominal pain progressively increased over the weeks. The patient responded only to intravenous thiamine administration.We suggest that a suspicion for gastrointestinal beriberi should arise if gastrointestinal symptoms (anorexia, nausea, vomiting and abdominal pain) are refractory to the usual therapies.

Wet beriberi with multiple organ failure remarkably reversed by thiamine administration: A case report and literature review.

RATIONALE: Circulatory failure, especially with low systemic vascular resistance (SVR), as observed in septic shock, thyrotoxicosis, and anemia, is a particular pattern that should suggest thiamine (vitamin B1) deficiency. The clinical picture of wet beriberi secondary to thiamine deficiency only demonstrates non-specific clinical manifestations. For a diagnosis of wet beriberi, medical history is very important. Interestingly, imprisonment was also found to be related to thiamine deficiency. This article presents a rare case of wet beriberi associated with multiple organ failure (MOF) in a prison patient with years of heavy alcohol consumption. PATIENT CONCERNS: The patient reported repetitive symptoms of nausea, vomiting, respiratory distress, and palpitations for a period of 1 month; dyspnea and edema for 5 days; and decreased blood pressure and urine volume for 2 days. DIAGNOSES: The heart failure patient had a history of dietary deficiency. Right heart catheterization showed high cardiac output (CO) and low SVR. Measurement of serum thiamine concentration was low. The most important factor was that the hemodynamic indices were remarkably reversed by thiamine administration. INTERVENTIONS: The patient started treatment with thiamine (100 mg) by intramuscular injection, together with basic supportive care. OUTCOMES: The hemodynamic indices improved within 12 hours after thiamine administration. Echocardiographic examinations revealed right ventricular function improvement within a few days, which were normal within a month. LESSONS: A diagnosis of wet beriberi should be considered for a prison patient who has unexplained heart failure, lactic acidosis, and/or MOF. Moreover, the patient should be empirically given thiamine administration without delay.

A Large Outbreak of Thiamine Deficiency Among Illegal Gold Miners in French Guiana.

From September 2013 to July 2014, several gold miners working in the tropical forest consulted the Maripasoula Health Center in French Guiana for edema and findings consistent with right-sided cardiac failure. Of the 42 cases of beriberi that were diagnosed, one patient died. The laboratory and clinical investigation demonstrated vitamin B1 deficiency in most of the patients tested. Furthermore, 30 of 42 patients responded favorably to 500 mg of intravenous or intramuscular thiamine supplementation. In addition, dietary investigation showed insufficient thiamine intake in these patients. We concluded that patients had acquired beriberi because of diet restrictions, hard labor, and infectious diseases, notably malaria. In 2016, cases were still being reported. We recommend screening for compatible symptoms in gold miners, thiamine supplementation, and nutritional intervention.

[Beriberi 10 years after gastric bypass surgery - case report].

Beriberi is primarily related to malnutrition, but also known as a complication following abdominal surgical procedures. A 41 year old woman, who underwent gastric bypass surgery 10 years earlier, presented at the emergency department of Landspitali with general weakness and paresthesia. Physical examination revealed muscle atrophy and attenuated deep tendon reflexes in her lower limbs; presenting as polyneuropathy due to beriberi. The diagnosis was confirmed with serum thiamine levels measuring well below reference levels. She was treated with 300 mg of thiamine intravenously and her condition started to improve. Thiamine deficiency in this case is most likely related to malnutrition secondary to the gastric bypass surgery. This rare complication must be considered in patients that present with polyneuropathy following bariatric surgery. Key words: Beriberi, gastric bypass, thiamine, polyneuropathy, surgery, case report. Correspondence: Tomas Gudbjartsson, tomasgud@landspitali.is.

Shoshin Beriberi With Low Cardiac Output and Hemodynamic Deterioration Treated Dramatically by Thiamine Administration.

"Shoshin beriberi", which is a fulminant form of cardiovascular beriberi accompanied by hemodynamic deterioration with high cardiac output and decreased systemic blood pressure, caused by thiamine deficiency due to alcoholic abuse or malnutrition, is often difficult to address because of its rarity and non-specific symptoms. We here present a patient with a history of alcoholic abuse who had suffered hemodynamic deterioration with extremely low cardiac output refractory to extracorporeal membrane oxygenation and intravenous catecholamine support, which was improved dramatically by bolus intravenous thiamine administration. Such a type with low cardiac output would be the most severe form of Shoshin beriberi, and cannot be rescued without diagnostic administration of thiamine.

Shoshin Beriberi in Critically-Ill patients: case series.

Thiamine plays a fundamental role in cellular metabolism. The classical syndrome caused by thiamine deficiency is beriberi, and its fulminant variant, once considered an uncommon finding, is now encountered among the critically ill.We present a case series of four critically ill non-septic non-alcoholic patients with severe lactic acidosis and refractory cardio-circulatory collapse caused by acute fulminant beriberi, which drastically responded to thiamine administration.In critical care settings, increased awareness of this life-threatening but reversible condition is a requirement, especially among patients receiving parenteral nutrition and those with unexplained recalcitrant lactic acidosis.

Clinicopathologic features of folate-deficiency neuropathy.

OBJECTIVE: The clinical significance and characteristics of neuropathy caused by folate deficiency remain to be established. METHODS: We examined the clinicopathologic features of 18 consecutive patients with neuropathy caused by folate deficiency who presented with low serum folate levels but normal blood thiamine and serum cobalamin levels in the absence of chronic alcoholism. RESULTS: Symptoms were relatively uniform, characterized by slowly progressive polyneuropathy with predominant involvement of the lower extremities, with a tendency to manifest as sensory rather than motor neuropathy and predominant deep rather than superficial sensory loss. The electrophysiologic features were consistent with axonal neuropathy. The histopathologic features of sural nerve biopsy specimens indicated large fiber-predominant axonal loss without segmental demyelination. Although macrocytosis was found in 7 patients, only 3 patients exhibited hemoglobin levels less than 10 g/dL. During the same study period, we found 12 patients who had low blood thiamine levels but normal serum folate and cobalamin levels without chronic alcoholism. Compared with patients who had thiamine-deficiency neuropathy, patients with a folate deficiency showed significantly slower progression (p < 0.01), a tendency to manifest sensory neuropathy (p < 0.05), predominant deep sensory loss (p < 0.01), and preservation of biceps tendon reflexes (p < 0.05). CONCLUSIONS: Folate-deficiency neuropathy was characterized by a slowly progressive and sensory-dominant pattern, which was different from thiamine-deficiency neuropathy (i.e., beriberi neuropathy). This study demonstrates the importance of folate deficiency in the differential diagnosis of neuropathy, particularly in countries where folic acid fortification has not yet been practiced.

Acute dilated cardiomyopathy in a patient with beriberi and cryoglobulinaemic vasculitis: an unusual potential complication of two rare disorders.

We report the case of a 45-year-old patient who presented with acute dilated cardiomyopathy. During admission the patient was consecutively diagnosed with cryoglobulinaemic vasculitis and beriberi. In both diseases, cardiac involvement may occur as dilated cardiomyopathy. Thiamin deficiency was the final cause for the severe cardiac manifestations (cardiac acute beriberi or Shoshin syndrome), which returned to normal after thiamin supplementation.

Subacute myelo­optic neuropathy, beriberi, and HTLV­I­associated myelopathy: elucidation of some neurological diseases in Japan.

Personal experience of the discovery of the cause, pathophysiology, and treatment as well as prevention of subacute myelo­optic neuropathy, beriberi, and HTLV­I­associated myelopathy were described.

The discovery of thiamin.

Thiamin deficiency was long known as 'beriberi' in English and 'kakké' in Japan and China. The cause of beriberi was attributed to miasmas rising from wet soil and later to an unknown infectious organism. Systematic studies of beriberi began in the Dutch East Indies in the 1880s. Cornelis Pekelharing and Cornelis Winkler investigated beriberi in the Dutch East Indies and thought that they had isolated a micrococcus that was responsible for the disease. Christiaan Eijkman observed that chickens fed white rice developed a leg paralysis or 'polyneuritis', whereas chickens fed brown (unpolished) rice did not. Gerrit Grijns succeeded Eijkman in the beriberi studies in Java and concluded correctly that there were unknown substances in foods that were needed for the peripheral nervous system. In 1926, Barend Jansen and Willem Donath isolated and crystallized a substance that cured polyneuritis in pigeons. Robert Williams synthesized thiamin in 1936.

Outbreak of beriberi among African Union troops in Mogadishu, Somalia.

CONTEXT AND OBJECTIVES: In July 2009, WHO and partners were notified of a large outbreak of unknown illness, including deaths, among African Union (AU) soldiers in Mogadishu. Illnesses were characterized by peripheral edema, dyspnea, palpitations, and fever. Our objectives were to determine the cause of the outbreak, and to design and recommend control strategies. DESIGN, SETTING, AND PARTICIPANTS: The illness was defined as acute onset of lower limb edema, with dyspnea, chest pain, palpitations, nausea, vomiting, abdominal pain, or headache. Investigations in Nairobi and Mogadishu included clinical, epidemiologic, environmental, and laboratory studies. A case-control study was performed to identify risk factors for illness. RESULTS: From April 26, 2009 to May 1, 2010, 241 AU soldiers had lower limb edema and at least one additional symptom; four patients died. At least 52 soldiers were airlifted to hospitals in Kenya and Uganda. Four of 31 hospitalized patients in Kenya had right-sided heart failure with pulmonary hypertension. Initial laboratory investigations did not reveal hematologic, metabolic, infectious or toxicological abnormalities. Illness was associated with exclusive consumption of food provided to troops (not eating locally acquired foods) and a high level of insecurity (e.g., being exposed to enemy fire on a daily basis). Because the syndrome was clinically compatible with wet beriberi, thiamine was administered to ill soldiers, resulting in rapid and dramatic resolution. Blood samples taken from 16 cases prior to treatment showed increased levels of erythrocyte transketolase activation coefficient, consistent with thiamine deficiency. With mass thiamine supplementation for healthy troops, the number of subsequent beriberi cases decreased with no further deaths reported. CONCLUSIONS: An outbreak of wet beriberi caused by thiamine deficiency due to restricted diet occurred among soldiers in a modern, well-equipped army. Vigilance to ensure adequate micronutrient intake must be a priority in populations completely dependent upon nutritional support from external sources.

Shoshin beriberi mimicking a high-risk non-ST-segment elevation acute coronary syndrome with cardiogenic shock: when the arteries are not guilty.

BACKGROUND: Cardiac acute beriberi (Shoshin syndrome) is a rare disease that may lead to a fatal outcome if not treated specifically. OBJECTIVES: We report a case of Shoshin syndrome with an unusual presentation of cardiogenic shock and an electrocardiographic pattern of severe myocardial ischemia suggesting left main coronary artery obstruction. CASE REPORT: A 35-year-old man presented with chest discomfort, diffuse ST-segment depression in the 12-lead electrocardiogram (ECG) with ST-segment elevation in aVR, and rapidly evolving congestive heart failure leading to cardiogenic shock. Intensive support was required, including mechanical ventilation, high doses of inotropics and vasopressors, intra-aortic balloon counterpulsation, and continuous renal replacement therapy. An emergency coronary angiogram was performed that showed normal coronary arteries. Right heart catheterization showed a high-output state with elevated filling pressures suggesting high-output heart failure. The echocardiography confirmed normal left and right ventricular contraction. Thiamine deficiency was suspected as the cause of the high-output heart failure. After a single dose of intravenous thiamine (100 mg), the patient's hemodynamic status improved dramatically within minutes, allowing a rapid discontinuation of hemodynamic support. Subsequent ECGs showed complete resolution of ST-segment abnormalities. Serial lactate measurements, red blood cell transketolase activity, and the thiamine pyrophosphate response test were concordant with a thiamine deficiency state. CONCLUSION: Shoshin syndrome may present as cardiogenic shock with an ECG mimicking severe myocardial ischemia, and if suspected, can be rapidly and effectively treated.