Wernicke encephalopathy: limitations in a laboratory and radiological diagnosis.

Wernicke encephalopathy is an emergent neurological disorder caused by vitamin B1 (thiamine) deficiency. Here, we present a case of Wernicke encephalopathy in a male patient in his 70s with normal serum thiamine levels and MRI findings on admission. He had a history of heavy alcohol consumption and a gradual decrease in food intake. On arrival at the hospital, his consciousness was impaired which persisted even after glucose replacement. Moreover, horizontal nystagmus and cerebellar ataxia were observed. Head CT scan and MRI revealed no abnormal findings. Further, his serum thiamine level was within the normal range. The patient was clinically diagnosed with Wernicke encephalopathy, and high-dose thiamine therapy was started. Then, his symptoms improved immediately. Thus, in case of clinical suspicion, treatment for Wernicke encephalopathy must be initiated promptly even in patients with normal serum thiamine levels.

Pulmonary artery catheter usage in diagnosis of Shoshin beriberi presented with unexplained lactic acidosis.

Wet beriberi is a rare but fatal disease in modern society. The nonspecific clinical manifestations, including symptoms of heart failure and recalcitrant lactic acidosis, can prevent timely diagnosis. The use of a pulmonary artery catheter can promptly confirm a high cardiac output state and plays a crucial role in rapidly deteriorating cases. Appropriate treatment with intravenous administration of thiamine leads to dramatic recovery within hours. We present two cases of Shoshin beriberi, a fulminant variant of wet beriberi, diagnosed in 2016 and 2022 at our institute. The patients experienced haemodynamic collapse and refractory lactic acidosis, which were successfully diagnosed with the use of a pulmonary artery catheter and reversed by thiamine supplementation. We also reviewed 19 cases of wet beriberi reported between 2010 and 2022.

Raise vigilance against refractory distributive shock due to severe wet beriberi.

Differentiating the type and cause of shock is crucial for intensive care. The rapid aggravation of lactic acidosis in patients often indicates a severe impairment of oxygen uptake in tissues. Herein, we presented a rare case of refractory distributive shock with severe wet beriberi. A 40-year-old male was admitted to the emergency department (ED) with recurrent chest tightness and lower extremity edema. The condition of the patient continued to deteriorate after symptomatic treatments. After several turnovers, the medical history of the patient was requested again and finally obtained. Our emergency management team hypothesized that the thiamine-deficient diet caused an aerobic metabolism disorder in the patient. Overall, we aimed to alert clinicians to unusual causes of distributive shock and further discussed the application of thiamine supplementary therapy in critical care.

Shoshin beriberi and thiamine-responsive right heart failure: A case report in Mayotte Recognition and management of infant Shoshin beriberi.

Infant Shoshin beriberi is an acute life-threatening condition for which the diagnosis is frequently delayed. Therefore, rapid recognition of right heart failure with lactic acidemia is a crucial element in the diagnosis and therapeutic management. We present the case of a 2-month-old girl with bronchiolitis, right heart failure, and lactic acidosis, who quickly and favorably responded to thiamine supplementation. Thiamine deficiency was established through laboratory tests. We present a brief review of the literature with the different thiamine dosages proposed in emergencies and provide an emergency protocol in cases of clinical suspicion, since thiamine supplementation could help to speed up recovery in infants with Shoshin beriberi.

Critical vitamin deficiencies in autism spectrum disorder: Reversible and irreversible outcomes.

Vitamin deficiencies are an emerging concern in the management of children with autism spectrum disorder (ASD). Particular attention is required for recognizing the variable signs caused by unbalanced food intakes. We herein report two patients with multiple vitamin deficiencies who needed critical care showing different prognoses. Patient 1 with 'Shoshin' beriberi presenting with cardiac arrest had thiamine deficiency developed severe neurological sequelae despite rapid vitamin supplementation. Patient 2, who had leg pain and a limping gait, showed a rapid recovery with intravenous infusion and tube feeding after being diagnosed with scurvy. A literature search revealed several children with ASD with critically ill thiamine deficiency, but few reports documented a life-threatening condition in the form of cardiac arrest at the onset. Considering the high observation rate of food selectivity in children with ASD, early intervention is required to prevent the exacerbation of vitamin deficiencies to severe neurological disabilities.

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.

The rediscovery of thiamine deficiency disorders at a secondary level mission hospital in Northeast India.

In this article, we report the different presentations of thiamine deficiency disorders seen at a remote rural mission hospital in Northeast India, including investigations, treatment, and recovery. Two case studies, one of an infant with cardiac beriberi and the other of a nonalcoholic adult presenting with peripheral neuropathy, cardiomyopathy, and metabolic acidosis and responding to thiamine supplementation, are described in detail. We share our experience with these clinical entities over the past two decades, including recent research and lessons learned, and suggest ways forward to identify at-risk populations in Northeast India, improve early diagnosis and treatment, and promote preventive public health strategies.

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.

Comparison of Thiamin Diphosphate High-Performance Liquid Chromatography and Erythrocyte Transketolase Assays for Evaluating Thiamin Status in Malaria Patients without Beriberi.

Thiamin deficiency, or beriberi, is an increasingly re-recognized cause of morbidity and mortality in the developing world. Thiamin status has traditionally been measured through the erythrocyte activation assay (ETKA) or basal transketolase activity (ETK), which indirectly measure thiamin diphosphate (TDP). Thiamin diphosphate can also be measured directly by high-performance liquid chromatography (HPLC), which may allow a more precise estimation of thiamin status. We compared the direct measurement of TDP by HPLC with basal ETK activity and ETKA in 230 patients with Plasmodium falciparum malaria in rural southern Laos without overt clinical beriberi, as part of a trial of thiamin supplementation. Admission thiamin status measured by basal ETK activity and ETKA (α) were compared with thiamin status assessed by the measurement of TDP by HPLC. 55% of 230 included patients were male, and the median age was 10 (range 0.5-73) years. Using α ≥ 25% as the gold standard of thiamin deficiency, the sensitivity of TDP < 275 ng/gHb as a measure of thiamin deficiency was 68.5% (95% CI: 54.4-80.5%), with specificity of 60.8 (95% CI: 53.2-68.1%). There was a significant inverse correlation between the results of the two tests (Kendall's tau = -0.212, P < 0.001). Basal ETK activity was also significantly positively correlated with TDP levels (Kendall's tau = 0.576, P < 0.001). Thiamin diphosphate measurement may have a role in measuring thiamin levels in clinical settings. Further studies evaluating TDP concentration in erythrocytes with basal ETK activity and ETKA (α) in beriberi patients would help establish comparative values of these assays.

Dry Beriberi Due to Thiamine Deficiency Associated with Peripheral Neuropathy and Wernicke's Encephalopathy Mimicking Guillain-Barré syndrome: A Case Report and Review of the Literature.

BACKGROUND Beriberi due to thiamine (vitamin B1) deficiency has two clinical presentations. Patients with dry beriberi present with neuropathy, and patients with wet beriberi present with heart failure, with or without neuropathy. Dry beriberi can mimic the most common form of Guillain-Barre syndrome (GBS), an acute inflammatory demyelinating polyradiculoneuropathy (AIDP). Severe thiamine deficiency results in Wernicke's encephalopathy. This report of a case of dry beriberi and Wernicke's encephalopathy due to thiamine deficiency includes a review of the literature. CASE REPORT A 56-year old woman with a history of gallstone pancreatitis and protein-calorie malnutrition was treated six months previously with total parenteral nutrition (TPN). She initially presented at another hospital with paresthesia of the lower limbs, arms, and neck, and symptoms of encephalopathy. Initial diagnosis of GBS was made, based on magnetic resonance imaging (MRI) and cerebrospinal fluid (CSF) findings. Despite five days of intravenous immunoglobulin (IVIG) treatment, her encephalopathy worsened, requiring transfer to our hospital, where she required intubation and treatment with vasopressors. A repeat MRI of her brain showed changes consistent with Wernicke's encephalopathy. Following treatment with high-dose intravenous thiamine, her mental status improved within 48 hours, and by the third hospital day, she no longer required intubation. CONCLUSIONS Symptoms and signs of dry beriberi due to thiamine deficiency can mimic those of acute or chronic GBS. However, thiamine repletion leads to rapid clinical improvement and can prevent irreversible neurologic sequelae, including Korsakoff syndrome. Clinicians should consider thiamine deficiency in malnourished patients presenting with symptoms and signs of GBS.

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.

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.

Shoshin beriberi-thiamine responsive pulmonary hypertension in exclusively breastfed infants: A study from northern India.

OBJECTIVE: To study the effect of thiamine administration on the resolution of pulmonary hypertension in exclusively breastfed infants. DESIGN: Prospective cohort study. SETTING: Hospital based study of a tertiary care hospital. PATIENTS: A total of 29 infants with 17 males (58.6%) and 12 females (41.4%) were included in the study. INTERVENTION: In addition to the management of shock, right heart failure and renal failure, patients received intravenous thiamine 100mg/kg IV followed by 10mg/day till introduction of supplementary feeds. MAIN OUTCOMES MEASURES: Resolution of shock, metabolic complications and pulmonary hypertension. RESULTS: Mean age at presentation was 78.45±30.7 days. All infants were exclusively breastfed. 86.2% of mothers were on customary dietary restrictions. Biventricular failure and tachycardia was commonly present. There were four deaths in our series. Acute metabolic acidosis was a universal feature with a mean pH of 7.21±0.15. Pulmonary hypertension was present in all patients on admission. Intravenous thiamine 100mg/kg IV stat was given immediately after documenting pulmonary hypertension. Repeat echocardiography showed complete resolution of pulmonary hypertension. CONCLUSION: Many infants present to us with Shoshin beriberi with unusually high pulmonary pressures. These patients respond to thiamine challenge with prompt resolution of metabolic complications and reversal of pulmonary hypertension. We believe this is first of its kind from the region, which is reported.

[Sometimes they come back! A case of Shoshin Beriberi in Northern Italy (2012)]. / A volte ritornano! Un caso di Shoshin Beriberi nel Nord Italia (2012).

A 78-year-old man presented to the emergency department with symptoms and signs suggestive of heart failure. Only after a long interview we discovered that the patient has been eating, for over 20 years, only chestnut honey and chestnut jam produced by himself. He refused any other foods, because of the fear of being poisoned; he did not drink alcohol at all. The clinical picture was attributable to Beriberi, and the patient recovered promptly after treatment with thiamine. A high clinical suspicion and an early thiamine supplementation might shorten the duration of work-up and hospital length of stay, as well as prevent extensive and expensive diagnostic work-up, thus simplifying the clinical management.

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.

Cardiac beriberi: often a missed diagnosis.

Thiamine deficiency leads to various manifestations due to dysfunction of nervous or cardiovascular system, commonly known as dry and wet beriberi, respectively. The latter, also known as cardiac beriberi is usually missed in clinical practice because of the absence of classically described symptoms such as pedal edema/anasarca. We investigated 55 such infants and prospectively followed their clinical course. All the babies were exclusively breast-fed and their mothers belonged to low socio-economic status with their staple diet consisting of non-parboiled polished rice. Majority presented with tachypnea, chest indrawing and tachycardia and cardiomegaly with dilatation of right heart and pulmonary hypertension on 2D-echocardiography. Low levels of erythrocyte transketolase activity suggested thiamine deficiency that was confirmed by reversion of several clinical features including cardiologic abnormalities to normalcy on thiamine supplementation. We recommend thiamine therapy for infants with unexplained congestive cardiac failure or acute respiratory failure from precarious socio-economic background since it is life-saving in many instances.

Thiamin deficiency and uncomplicated falciparum malaria in Laos.

OBJECTIVE: Thiamin deficiency complicates severe Plasmodium falciparum malaria in Thailand and may contribute to acidosis. We therefore estimated the frequency of biochemical thiamin deficiency in patients presenting with uncomplicated falciparum malaria in southern Laos. METHODS: Red cell transketolase activation coefficients (alpha) were measured in 310 patients presenting with uncomplicated falciparum malaria and 42 days after starting treatment. RESULTS: Twelve per cent of patients had biochemical evidence of severe deficiency (alpha values >1.31) at presentation, declining to 3% 42 days later. CONCLUSION: Thiamin deficiency was common in Lao patients admitted with uncomplicated P. falciparum infection and was reduced following treatment of malaria and multivitamin supplementation. The role of this preventable and treatable disorder in malaria and other acute infections, and the incidence of beriberi in rural Laos, needs further investigation.

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.

[Acute neuromyocarditis secondary to diet-induced beriberi. Case report]. / Neuromyocardite aiguë du béribéri par régime alimentaire exclusif. Une observation.

INTRODUCTION: Thiamine deficiency can be determined by various clinical signs; some of these symptoms may be acute, and require an urgent diagnosis. In countries such as ours with a high standard of living, this disorder is more commonly observed in cases of severe alcoholism, and cases of diet-associated thiamine deficiency are rare, and therefore not easily recognized. The metabolic disorders resulting from vitamin B1 deficiency are responsible for the well-known central or peripheral neurological symptoms, and also for the less common and often more acute cardiovascular reactions. Immediate thiamine/vitamin B1 supplementation is of major importance. The rapid reversal of symptoms following this treatment is often considered as a diagnostic index. EXEGESIS: In this study, an original case of diet-associated thiamine deficiency has been reported, with clinical symptoms including myocarditis and subacute peripheral nerve involvement in a young adult. The disorder was the result of a thiamine deficiency in the diet, which was exclusively based on milled rice. CONCLUSION: The present report is interesting both as regards its clinical aspects and its etiology, and it emphasizes the importance in the differential diagnosis of a given case of taking the possibility of diet-related thiamine deficiency into account, although this is an uncommon etiology in developed countries.