Thiamine deficiency-related neuropathy: A reversible entity from an endemic area.

BACKGROUND AND PURPOSE: Despite thiamine deficiency being a lesser-known entity in modern times, beriberi in various forms, including thiamine deficiency-related neuropathy, remains endemic in Kashmir due to the consumption of polished rice as a staple food. This observational study investigates cases of peripheral neuropathy of unknown etiology and their potential responsiveness to thiamine administration. METHODS: This prospective study enrolled adult patients presenting to the emergency department with weakness consistent with thiamine deficiency-related neuropathy and conducted a therapeutic challenge with thiamine on 41 patients. Response to thiamine therapy was monitored based on subjective and objective improvements in weakness and power. Patients were divided into thiamine responders (n = 25) and nonresponders (n = 16) based on their response to thiamine therapy and nerve conduction studies. RESULTS: Most of the baseline characteristics were similar between responders and nonresponders, except the responders exhibited lower thiamine levels and higher partial pressure of oxygen and lactate levels compared to nonresponders. All patients had a history of consuming polished rice and traditional salt tea. Although weakness in the lower limbs was present in both groups, nonresponders were more likely to exhibit weakness in all four limbs. Clinical improvement was observed within 24 h, but proximal muscle weakness persisted for an extended period of time. CONCLUSIONS: Thiamine deficiency-related neuropathy presents with predominant lower limb weakness, exacerbated by vomiting, poor food intake, psychiatric illness, and pregnancy. Thiamine challenge should be followed by observation of clinical and biochemical response.

The role of CT brain findings in the early diagnosis of infantile encephalitic beriberi.

BACKGROUND: Thiamine deficiency disease may occur in infants from thiamine-deficient mothers in developing countries, as well as in infants fed solely with soy-based formula. Thiamine deficiency in infants may present with acute neurological manifestations of infantile encephalitic beriberi. OBJECTIVE: To review the role of noncontrast CT brain findings in infantile encephalitic beriberi in early diagnosis. MATERIALS AND METHODS: A retrospective review of noncontrast CT scans of the brain in 21 infants with acute-onset infantile encephalitic beriberi was carried out. RESULTS: On noncontrast-enhanced CT brain, hypodense lesions were seen symmetrically in the putamen in all the babies; symmetric hypodensities were seen in the caudate nuclei in 14/21 (67%), in dorsomedial thalami/hypothalamic/subthalamic area in 4/21 (19%), and in the globi pallidi in 2/21 (9.5%) of the infants. CONCLUSION: Recognition of symmetrical hypodense lesions in the basal ganglia and medial thalami/hypothalamic/subthalamic area on noncontrast CT scan of the brain are important early features to recognize in encephalitic beriberi in at-risk infants. ADVANCES IN KNOWLEDGE: IEBB is a cause of hypodense bilateral basal ganglia and may be identified by this finding in the appropriate clinical settings.

Clinical Features and Outcomes of Shoshin Beriberi.

Shoshin beriberi is a fulminant form of wet beriberi, but there are no large-scale studies detailing the clinical features of this disease. We investigated the clinical features and outcomes of Shoshin beriberi using data from a nationwide database in Japan.Using the Diagnosis Procedure Combination database, we identified patients with Shoshin beriberi between July 2010 and March 2021. We retrospectively investigated the characteristics, comorbidities, treatment, and in-hospital mortality of patients with Shoshin beriberi. The chi-square test or Fisher's exact test was used for categorical variables, and the Mann-Whitney U-test was used for continuous variables.We identified 62 patients with Shoshin beriberi. The median (interquartile range) age was 63 (48-69) years. Furthermore, 54 patients were male (87%). The most common comorbidity was alcohol-related disorder (34%). The median (interquartile range) length of hospital and intensive care unit stays were 17 (range, 10-35) and 5 (range, 1-9) days, respectively. The proportion of patients who received venoarterial extracorporeal membrane oxygenation, intra-aortic balloon pump, continuous renal replacement therapy, and mechanical ventilation was 11, 5, 29, and 63%, respectively. Among the patients with Shoshin beriberi, 53% received 2 or more catecholamines or inotropes. The in-hospital mortality was 23%. Impaired consciousness at admission was significantly related to in-hospital death (P < 0.001).The present study is the first and largest to describe the clinical features of patients with Shoshin beriberi using a nationwide database. Impaired consciousness at admission was significantly associated with in-hospital death.

Addressing Cognitive Biases in Interpreting an Elevated Lactate in a Patient with Type 1 Diabetes and Thiamine Deficiency.

We present the case of a young woman admitted for diabetic ketoacidosis with persistent, asymptomatic lactic acid (LA) elevation during the evolving COVID-19 pandemic. Cognitive biases in interpreting an elevated LA in this patient's care resulted in an extensive infectious workup instead of the low-cost and potentially diagnostic provision of empiric thiamine. We discuss clinical patterns and etiologies of LA elevation and the role of thiamine deficiency. We also address cognitive biases potentially affecting the interpretation of elevated lactate levels and provide guidance for clinicians to determine appropriate patients for empiric thiamine administration.

Wernicke encephalopathy and beriberi disease presenting as STEMI-equivalent.

Thiamine deficiency is commonly associated with malnutrition, alcoholism and bariatric surgery. Thiamine deficiency can manifest in different ways, especially in developing countries: as peripheric neuropathy, as Wernicke encephalopathy or as beriberi disease. The authors present the case of a 72-year-old male, with a hiatal hernia that led to thiamine deficiency due to malnutrition. The initial clinical manifestation was an ST-elevation myocardial infarct equivalent, an ECG with a shark-fin pattern that evolved to a Wellens type B pattern. The patient evolved with severe altered mental status. A Wernicke encephalopathy diagnosis was confirmed by MRI; the patient was medicated with high-dose thiamine, with quick recovery, both neurologic and cardiac. The clinical history and response to treatment confirm the diagnosis of Wernicke encephalopathy and beriberi disease.

A case of dry beriberi from alcohol use disorder and disordered eating.

Background: Thiamin is an essential vitamin that is involved in every organ system in the body. Thiamin deficiency can present as beriberi or Wernicke's encephalopathy. We seek to educate practitioners in developed countries to include beriberi on the differential diagnosis when a patient with alcohol use disorder, poor diet and/or disordered eating presents with ascending paralysis without albuminocytologic dissociation. Case: In this case report, a 20-year-old female with no past medical history presented with three weeks of ascending paralysis. At presentation, she could not grasp objects, walk, or rise from a seated position. She reported consuming excessive alcohol and an otherwise limited diet due to picky eating. The patient was ultimately diagnosed with acute inflammatory demyelinating polyneuropathy secondary to dry beriberi from severe protein-calorie malnutrition and alcohol use disorder. She received an aggressive thiamin replacement regimen as well as physical and occupational therapy. She was discharged to home 24 days after her initial presentation. Discussion: This patient case offers a unique presentation of ascending paralysis without albuminocytologic dissociation due to severe dry beriberi from a diet of unenriched carbohydrates and excessive alcohol in an otherwise young, healthy adult in the United States. Our goal is that in reviewing the unusual details of this case, providers will be better equipped for the timely diagnosis and treatment of similar cases in the future.

[Thiamin: Simply a vitamin?] / Thiamine : une simple vitamine ?

Vitamin B1 also known as thiamin is an essential vitamin assuring body functioning and comes exclusively from food. Vitamin B1 deficiency is an under-diagnosed disease because it is less frequently suspected in high income countries. However, its risk factors, like alcohol and malnutrition, are common in the general population. Thiamin deficiency can lead to three clinical entities, Gayet-Wernicke encephalopathy, which can progress to Korsakoff encephalopathy, wet Beriberi and its dry form. These diseases are associated with high mortality and heavy long-term sequelae. Rapid diagnosis enables timely treatment.

La vitamine B1 ou thiamine est une vitamine essentielle au bon fonctionnement de l'organisme et provient exclusivement de l'alimentation. La carence en vitamine B1 est une maladie sous-diagnostiquée car sous-évoquée dans les pays à haut revenu. Pourtant, les facteurs de risque, tels que l'alcool et la malnutrition, sont répandus dans la population. Les conséquences d'une carence en thiamine se manifestent sous trois formes, l'encéphalopathie de Gayet-Wernicke, pouvant progresser en encéphalopathie de Korsakoff, le béribéri humide ou sa forme sèche. Ces maladies sont grevées d'une haute mortalité et peuvent entraîner à long terme de lourdes séquelles. Un diagnostic rapide permet d'instaurer un traitement substitutif simple et efficace.

Investigating oxythiamine levels in children undergoing kidney transplantation and the risk of immediate post-operative metabolic and hemodynamic decompensation.

BACKGROUND: Oxythiamine is a uremic toxin that acts as an antimetabolite to thiamine and has been associated with cases of Shoshin beriberi syndrome in adults. We sought to identify whether surgical stress and ischemia/reperfusion injury may precipitate functional thiamine deficiency in children peritransplant. METHODS: We retrospectively analyzed a cohort of pediatric kidney transplant recipients. Oxythiamine levels were measured in pre-transplant serum samples by mass spectrometry and tested for association with severity of lactic acidosis in the first 24 h post-transplant. Secondary outcomes included association with hyperglycemia and indicators of dialysis adequacy (DA). RESULTS: Forty-seven patients were included in the analysis. Median oxythiamine levels differed by modality, measuring 0.67 nM (IQR 0.31, 0.74), 0.34 nM (IQR 0.28, 0.56), and 0.25 nM (IQR 0.17, 0.38) for peritoneal dialysis (PD), hemodialysis (HD), and no dialysis, respectively (p = 0.05). Oxythiamine was associated with 24-h lactate levels (r = 0.38, p = 0.02) and negatively associated with DA (r = - 0.44, p = 0.02). Median oxythiamine levels were higher in patients with poor DA (0.92 nM (IQR 0.51, 1.01) vs. 0.40 nM (IQR 0.24, 0.51), p < 0.01). Sensitivity analysis showed absence of residual association of oxythiamine with 24-h lactate or dialysis modality, but remained significant for DA (p = 0.03). One patient manifested Shoshin beriberi syndrome (oxythiamine 2.03 nM). CONCLUSIONS: Oxythiamine levels are associated with DA at transplant. Patients on PD with no residual kidney function and low DA manifest the highest oxythiamine levels and may be at an increased risk for developing acute Shoshin beriberi syndrome in the early post-transplant period.

A BERIBERI UNHEALTHY LATTE: ENCEPHALOPATHY AND SHOCK FROM SEVERE NUTRITIONAL DEFICIENCY.

BACKGROUND: Thiamine deficiency is an uncommon cause of severe illness in the United States that can lead to significant morbidity because of high-output cardiac failure, peripheral neuropathy, and permanent neurologic impairment. We report the case of a middle-aged woman with extreme malnutrition caused by complications of Roux-en-Y gastric bypass (RYGB) surgery who presented with signs and symptoms of severe thiamine deficiency and septic shock. CASE REPORT: A 43-year-old woman who had undergone RYGB surgery and who had multiple complications presented to the emergency department with agitation, confusion, and lethargy. The physical examination revealed an obtunded woman appearing much older than her reported age with significant peripheral edema. She was hypoxemic, hypotensive, and febrile. The initial laboratory analysis revealed a serum lactate level above the measurable limit, a normal thyroid-stimulating hormone, and elevated levels of troponin and brain natriuretic peptide. A transthoracic echocardiogram showed high-output heart failure. The patient's family later revealed that for the past year her diet had consisted almost exclusively of frozen blended lattes. High doses of thiamine and folate were started. Her shock, hyperlactatemia, and respiratory failure resolved by hospital day 3 and her encephalopathy resolved soon thereafter. Why Should an Emergency Physician be Aware of This?: Thiamine deficiency is a rare but reversible cause of shock, heart failure, and encephalopathy. Identifying patients who are at risk for severe nutritional deficiencies may aid in more rapid treatment with relatively benign medications with little downside, in this case high-dose vitamin B1, and ultimately improve patient-oriented outcomes such as mortality, morbidity, and hospital length of stay.

Non-alcoholic beriberi, Wernicke encephalopathy and long-term eating disorder: case report and a mini-review.

INTRODUCTION: Nowadays, reports of beriberi are rare in developed countries. Wernicke encephalopathy may be present in about 25% of patients with beriberi. CASE REPORT: We report the case of a woman with history of depression and chronic eating disorder, who complained Wernicke encephalopathy and beriberi. Sural nerve and muscular biopsy were performed, showing severe axonal neuropathy. Thiamine supplementation was started with rapid improvement of the pulmonary and cardiac affections; improvement of peripheral neuropathy was incomplete. CONCLUSIONS: Thiamine deficiency can be misdiagnosed. Beriberi is an important cause of acute flaccid paralysis; hence, clinicians should consider this diagnosis and prompt start thiamine treatment to avoid permanent neurological sequelae.

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.

Acute Shoshin beriberi syndrome immediately post-kidney transplant with rapid recovery after thiamine administration.

Pediatric kidney transplant surgery is usually well tolerated, despite suboptimal physical conditioning that may result from uremia and nutritional deficiencies that accompany end-stage kidney failure. Nutritional supplementation is used to overcome such deficiencies, especially for children needing dialysis. Thiamine, a water-soluble vitamin also known as vitamin B1, is a critical cofactor in energy metabolism and may be competitively inhibited by the antimetabolite oxythiamine, a uremic toxin that accumulates in kidney failure. We report a case of a thiamine deficiency syndrome leading to overwhelming cardiac dysfunction, metabolic instability, and hemodynamic compromise, after otherwise uneventful kidney transplant surgery. Prior to transplant, this 14-year-old boy was treated with peritoneal dialysis and received thiamine supplementation. Post-transplant, the patient first developed hyperglycemia, then lactic acidosis, and subsequently hemodynamic instability despite escalating treatment with volume resuscitation and inotropic medication. He made a rapid and complete recovery after administration of IV thiamine. This is the first reported case of Shoshin beriberi syndrome in a pediatric kidney transplant recipient. Inadequate dialysis may have been a key factor, with toxin accumulation and thiamine transporter downregulation contributing to his status. Functional thiamine deficiency should be considered as a potential treatable cause of early post-transplant hemodynamic instability.

The discovery of beri-beri and scurvy vitamins - two hundred and two years from its discovery.

The history of the discovery of vitamins was the history of their deficiency disorders. Casimir Funk, the father of vitaminic therapy, studied the interrelationships in the human body of those elements that Christiaan Eijkman demonstrated in animals, particularly birds. In 1911, he designated these factors vitamins (vita = life and amine, a nitrogenous substance essential for life); this name was accepted by the scientific community in 1912. Here, we intend to give an illustrative view on the early days of vitamin research as carried out by Casimir Funk.

Wet Beriberi Associated with Hikikomori Syndrome.

Wet beriberi, characterized by high cardiac output with predominantly right-sided heart failure and lactic acidosis, is a disease caused by thiamine deficiency, and is rarely seen in modern society. However, patients with social withdrawal syndrome, also known as hikikomori syndrome, may be a new population at risk of thiamine deficiency. Hikikomori syndrome, first recognized in Japan, is becoming a worldwide issue. A 39-year-old Japanese patient was brought to our hospital, with a 3-week history of progressive shortness of breath and generalized edema. The patient had right-sided high-output heart failure, lactic acidosis, and Wernicke-Korsakoff syndrome. Because of his history of social isolation, we diagnosed hikikomori syndrome according to the Japanese government's definition, which is as follows: lifestyle centered at home; no interest or willingness to attend school or work; persistence of symptoms beyond 6 months; and exclusion of other psychiatric and developmental disorders. Considering his diagnosis of hikikomori syndrome and social isolation, we suspected malnutrition, particularly thiamine deficiency, and successfully treated him. Clinicians should be aware of the potential risk of thiamine deficiency associated with hikikomori syndrome and initiate thiamine replacement in cases of high-output heart failure associated with lactic acidosis.

[Wernicke encephalopathy and dry beriberi; late complications after bariatric surgery performed on a patient with a psychiatric history]. / Wernicke-encefalopathie en droge beriberi als late complicaties van bariatrische chirurgie bij patiënte met psychiatrisch belast verleden.

A 38-year-old woman was admitted in a psychiatric hospital because of memory disorders. Dry beriberi and Korsakoff's syndrome, as a late neuropsychiatric manifestation of Wernicke's encephalopathy, were established. The beriberi symptoms decreased slowly, but the patient's memory impairments persisted. These clinical features were caused by a thiamine deficiency. Gastric bypass surgery is associated with an increased risk of thiamine deficiency. Excessive alcohol consumption and poor compliance with vitamin deficiency treatment both contributed to the rapid onset of these disorders. The case we describe demonstrates how important it is that patients who have undergone bariatric surgery are prescribed the correct vitamin supplements and that the treatment is continued for an appropriate period of time; this treatment is particularly important in the case of patients who are also suffering from an comorbid alcohol-related disorder.

Dutch Research on Beriberi: I. Christiaan Eijkman's Research and Evaluation of Kanehiro Takaki's Diet Reforms of the Japanese Navy.

Dutch researcher Christiaan Eijkman realized that a form of Polyneuritis closely resembling Beriberi occurred among chickens that were fed with cooked, instead of raw rice. He found that the cause of this illness lay in the nutritional differences between rice that still had its bran layer, and polished white rice. He also found that this bran layer had a therapeutic effect. He decided to investigate the incidence of Beriberi among humans by comparing a diet based on white rice with one based on unpolished, full-grain rice. In 1898, he published 'Beri-Beri en Voeding, Een Kritisch-Historische Studie' (Beri-beri and Feeding, An Important Historical Study), in which he discussed the diet reforms of Van Leent in the Dutch East Indian Navy, and of Kanehiro Takaki in the Japanese Navy. Notwithstanding the fact that Takaki's research was highly praised by the Lancet, Eijkman was very critical of his research methods. He was conscious, however, that a shift had occurred in the research of Beriberi from bacteria-based research to nutritional deficiencies, and discussed Takaki's findings insofar as he could.