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.

Altered Mental Status and Cardiac Failure Due to Thiamine Deficiency in an Overweight Teen.

We describe an overweight but otherwise previously healthy 17-year-old female who presented with altered mental status and rapidly progressive weakness. She was ultimately diagnosed with Wernicke encephalopathy and wet beriberi resulting from severe thiamine deficiency. She required admission to the pediatric ICU because of hypoventilation with progressive weakness and worsening encephalopathy and was found to have impaired cardiac function as assessed by echocardiography. Her heart function and encephalopathy improved on initiation of thiamine repletion. She remained in inpatient rehabilitation for 10 months but still remained weak at discharge. Thiamine deficiency is not commonly considered in the United States as a diagnosis other than in patients with severe alcohol use disorder. However, thiamine may be depleted in as little as 2 weeks if nutrition is inadequate. In such a setting, thiamine deficiency is an important etiology to consider early in the pediatric patient with altered mentation especially because it can be readily and safely treated.

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.

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.

Anaesthesia and intensive care management of shoshin beriberi in perioperative period in young adult.

Thiamine deficiency presents as dry and wet beriberi. Wet beriberi is a complication of the cardiovascular system. Acute form of wet beriberi known as Shoshin beriberi is an acute presentation of cardiogenic shock which is rapidly reversed with thiamine administration. Here we present successful management of intraoperative acute decompensated heart failure, probably due to thiamine deficiency.

Prevalence of Thiamine Deficiency in Pregnancy and its impact on fetal outcome in an area endemic for thiamine deficiency.

BACKGROUND: Pregnancy is a metabolically challenging state with increased nutritional demand. Thiamine is an important cofactor in various metabolic pathways and thus its deficiency could have a serious impact on both maternal and fetal outcomes. Kashmir has thiamine deficiency in endemic proportions, with multiple reports of infantile beriberi, postpartum neuropathy, and gastric beriberi. This prompted us to assess the extent of the burden of thiamine deficiency during pregnancy. METHODS: This cross-sectional study was conducted for a period of two years in pregnant women attending the antenatal clinic. A demographic, clinical, biochemical, and dietary assessment was done in all participants. The whole blood thiamine levels were assessed by high-performance liquid chromatography. RESULTS: A total of 492 participants were included in the study with a mean age of 30.30±4.57 years and a mean BMI of 24.25±3.32 Kg/m2. The mean whole blood thiamine level of all participants was 133.29±14.32 nmol/L. Low thiamine status was present in 38.2% (n = 188) of participants. Participants with low thiamine had poor perinatal outcomes, with 3.1% (n = 6) reporting early infant death. CONCLUSION: A high prevalence of thiamine deficiency occurs in pregnant women of Kashmir. Low thiamine is associated with poor nutritional status as well as poor perinatal outcomes. TRIAL REGISTRATION: CTRI/2022/07/044217.

Lactic Acidosis Due to Thiamine Deficiency in a Preterm Infant Associated with Inadequate Parenteral Nutrition.

BACKGROUND Premature low birth weight infants may require prolonged parenteral feeding, which can be associated with deficiencies of vitamins and micronutrients. Deficiency in thiamine (vitamin B1) can result in metabolic crisis and lactic acidosis. This report describes a premature male infant born at 30 weeks of gestation with thiamine deficiency and lactic acidosis associated with inadequate parenteral nutrition. CASE REPORT A preterm boy was born at 30 weeks+5 days, with a weight of 0.830 kilograms and Apgar scores of 8 and 9 at 1 and 5 minutes, respectively. Total parenteral nutrition started on day 1 of life. On day 21 of life, while he was on total parenteral nutrition, severe lactic acidosis with a high anion gap was noted. Sepsis work-up along with radiological studies were immediately done, and antibiotics were initiated to cover common suspected organisms. Repeated blood gas analysis showed further increases in lactate levels. A fluid bolus was administered, with no improvement, so sodium bicarbonate was started. Despite all interventions, the lactate level continued to increase up to 13.78 mmol/l. Thiamine deficiency was suspected next, and a dose of vitamin B1 was given intravenously. There was an immediate drop in lactate level, and the patient proceeded to a full recovery. CONCLUSIONS This report shows that lactic acidosis is a potentially life-threatening condition that can result from thiamine deficiency. When standard parenteral nutrition preparations are used for prolonged periods in premature neonates, continuous monitoring of vitamin levels, micronutrient levels, and biochemical parameters is required.

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.

[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.

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 Case of Pulmonary Hypertension in a 67-Year-Old Woman with Thiamine Deficiency Following Partial Gastrectomy and Exacerbated by Diuretics.

BACKGROUND Thiamine deficiency often occurs in patients with alcohol abuse and unbalanced diets. However, gastric surgery and/or use of diuretics can also cause this situation. Importantly, thiamine deficiency can cause pulmonary hypertension, which is completely reversible. This report is of a case of a 67-year-old woman who presented with pulmonary hypertension and thiamine deficiency following partial gastrectomy and exacerbated by diuretics. CASE REPORT A 67-year-old woman with histories of partial gastrectomy because of non-Hodgkin lymphoma (at age 36 years) and sigmoid colectomy because of colon cancer (at age 58 years) presented with bilateral leg edema and dyspnea on exertion. Electrocardiography and right heart catheterization revealed pulmonary hypertension. Despite diuretic administration (initially indapamide, then changed to torsemide), the symptoms gradually worsened. Although she was neither an alcohol drinker nor a fussy eater, we found that her blood thiamine concentration was extremely low. We diagnosed her as having thiamine deficiency caused by gastrectomy and administered diuretics. After intravenous thiamine administration, her symptoms showed immediate improvement, associated with the normalization of the pulmonary hypertension. After detailed analysis of the cause of her pulmonary hypertension, including Swan-Ganz catheterization and echocardiography, we concluded that her pulmonary hypertension was caused by thiamine deficiency following partial gastrectomy and exacerbated by diuretics. CONCLUSIONS This case highlights the importance of recognizing that thiamine deficiency can be a cause of pulmonary hypertension, and that thiamine deficiency can be associated with gastrectomy and the use of diuretics.

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.

Lessons of the month 1: Shoshin beriberi: A case report of fulminant cardiovascular collapse, intractable hyperlactatemia and deteriorating consciousness.

Shoshin beriberi is a fulminant variant of thiamine deficiency, often presenting with severe lactic acidosis and cardiogenic shock. Due to the sparsity of this condition, delays in diagnosis can lead to fatality. However, rapid reversal of symptoms can be easily achieved through intravenous thiamine replacement.In this case report, we discuss a 57-year-old woman, who was previously fit and well, who presented to the emergency department with a 3-day history of extreme malaise, breathlessness and abdominal pain, with marked hypotension and tachycardia requiring vasopressor support and a severe rising lactic acidosis. Upon further questioning, a history of alcohol excess was noted. Rapid reversal of the marked haemodynamic instability was achieved upon administration of intravenous thiamine and the patient was discharged within 48 hours.

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.

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.

Infantile thiamine deficiency: Redefining the clinical patterns.

OBJECTIVES: Thiamine deficiency (TD) is frequently suspected and treated at our hospital. In our retrospective study, we aimed at finding the clinical and laboratory spectrum of infantile TD presenting to a single center over a period of time. METHODS: The diagnosis was made on criterion standard of response to thiamine challenge. RESULTS: TD was suspected in 189 infants at admission; 43 infants were diagnosed as having TD in three distinct forms and a fourth group with mixed presentation. The first group (n = 30), which was the youngest (mean age = 67 d), was always associated with lactic acidosis. They had history of reflux and suddenly became irritable and developed acidotic breathing. This further worsened into shock (46%) and acute respiratory failure (50%). The second group (n = 5) presented with pulmonary arterial hypertension. They had hoarseness of voice and irritability. Chest radiograph showed prominent pulmonary conus. Their clinical course was complicated by congestive heart failure in three. Echocardiographic response to thiamine was uniformly seen within 3 d in this group. The clinical presentation of infants with Wernicke's encephalopathy (n = 5) who were the oldest of all (mean age = 190 d) was constantly marked by presence of bilateral ptosis and encephalopathy preceded by occurrence of vomiting. Their head ultrasonography showed presence of hyperechoic basal ganglia. CONCLUSIONS: Three clinically distinct forms of TD were recognized. Lactic acidosis was a universal finding in acidotic form. Infants with pulmonary hypertension as primary presentation are typically associated with aphonia. Infants with Wernicke's encephalopathy can be clinically diagnosed by presence of encephalopathy and ophthalmic signs (ptosis).