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.

From Collapse to Recovery: Thiamine Intervention in Cardiac Beriberi.

This case report details the challenging presentation of a 68-year-old patient of cardio-circulatory collapse with pericardial effusion and recurrent pleural effusions. Hypotension did not respond to conventional intensive care measures. Despite comprehensive investigations, the underlying cause remained unidentified until intravenous thiamine replacement therapy was administered, restoring normotension and preventing pericardial or pleural effusion recurrence. The case underscores the importance of early recognition of thiamine deficiency in patients with pericardial and pleural effusions or critical illness, emphasizing the need to expand vigilance for thiamine deficiency and consider replacement therapy without a definitive diagnosis.

Thiamine deficiency as a cause of anorexia in terminally ill cancer patients: A case of possible gastrointestinal beriberi.

OBJECTIVES: Anorexia in cancer patients has a variety of causes and impairs patients' quality of life. However, there have been few reports of thiamine deficiency (TD) playing a role in anorexia during palliative care. The objective of this report was to describe such a case. METHODS: An 82-year-old woman with advanced cervical cancer was admitted for palliative care because of progressive disease. One month after admission, she developed myoclonus on the left side, difficulty speaking, slurred speech, and drooping of the left corner of the mouth, with no consciousness disturbance. She also developed nausea and complained of decreased dietary intake for more than 2 weeks. RESULTS: The patient's thiamine level, which had been measured 2 weeks earlier, was 27 ng/ml, which was below the normal range, and 100 mg of thiamine was administered intravenously. After 2 hours, the patient's neurological findings resolved, and her dietary intake improved from 30% to 40% of meals to 90% to 100%. Subsequently, the patient did not experience similar symptoms, and her clinical course was stable. Based on the patient's clinical course, gastrointestinal beriberi was diagnosed. SIGNIFICANCE OF RESULTS: This case shows that TD may cause anorexia. Many patients who receive palliative care have decreased dietary intake. Consequently, such patients may present with gastrointestinal beriberi, as in the present case. Appropriate diagnosis and treatment may contribute to increasing such patients' quality of life. It may be necessary to differentiate TD from other conditions as a cause of anorexia in patients receiving palliative care.

A Predictive Model for Thiamine Responsive Disorders Among Infants and Young Children: Results from a Prospective Cohort Study in Lao People's Democratic Republic.

OBJECTIVE: To develop a predictive model for thiamine responsive disorders (TRDs) among infants and young children hospitalized with signs or symptoms suggestive of thiamine deficiency disorders (TDDs) based on response to therapeutic thiamine in a high-risk setting. STUDY DESIGN: Children aged 21 days to <18 months hospitalized with signs or symptoms suggestive of TDD in northern Lao People's Democratic Republic were treated with parenteral thiamine (100 mg daily) for ≥3 days in addition to routine care. Physical examinations and recovery assessments were conducted frequently for 72 hours after thiamine was initiated. Individual case reports were independently reviewed by three pediatricians who assigned a TRD status (TRD or non-TRD), which served as the dependent variable in logistic regression models to identify predictors of TRD. Model performance was quantified by empirical area under the receiver operating characteristic curve. RESULTS: A total of 449 children (median [Q1, Q3] 2.9 [1.7, 5.7] months old; 70.3% exclusively/predominantly breastfed) were enrolled; 60.8% had a TRD. Among 52 candidate variables, those most predictive of TRD were exclusive/predominant breastfeeding, hoarse voice/loss of voice, cyanosis, no eye contact, and no diarrhea in the previous 2 weeks. The area under the receiver operating characteristic curve (95% CI) was 0.82 (0.78, 0.86). CONCLUSIONS: In this study, the majority of children with signs or symptoms of TDD responded favorably to thiamine. While five specific features were predictive of TRD, the high prevalence of TRD suggests that thiamine should be administered to all infants and children presenting with any signs or symptoms consistent with TDD in similar high-risk settings. The usefulness of the predictive model in other contexts warrants further exploration and refinement. TRIAL REGISTRATION: Clinicaltrials.gov NCT03626337.

Infrequent but serious? Beriberi And Thiamine deficiency among adolescents and young adults after bariatric surgery.

BACKGROUND: Thiamine deficiency (TD) among adolescents following metabolic and bariatric surgery (MBS) has not been assessed. OBJECTIVE: We assessed TD among adolescents following MBS. SETTING: University Hospital. METHODS: A retrospective chart review was conducted for all adolescents and young adults (aged 10-25 years) who had MBS and subsequently presented with TD at our institution (n = 30). Diagnosis used clinical, laboratory, brain imaging, and neurophysiology criteria. Of 1575 patients, 7 subsequently had TD. Another 23 adolescents had MBS at private hospitals or overseas and presented at our institution with TD. RESULTS: Based on MBS undertaken at our institution, TD prevalence was .45 cases per 100 MBS. The mean age of patients was 19.5 ± 3.23 years, 53.3% were male, 96.7% had sleeve gastrectomy, and time from MBS to admission averaged 4.97 ± 11.94 months. Mean weight loss from surgery to admission was 33.68 ± 10.90 kg. Associated factors included poor oral intake (90%), nausea and vomiting (80%), and noncompliance with multivitamins (71%). Signs and symptoms included generalized weakness, nystagmus, numbness, and paraparesis (83.3%-80%). Seven patients had Wernicke encephalopathy full triad; 16 displayed a mixed picture of Wernicke encephalopathy and dry beriberi; and there were no cases of wet beriberi. Half the patients achieved complete resolution of symptoms, whereas 47% and 40% had residual weakness or persistent sensory symptoms, respectively. There was no mortality. Most common concurrent nutritional deficiencies were of vitamins K, D, and A. CONCLUSIONS: This is the first in-depth study of TD among adolescents after MBS. Although TD is uncommon among adolescents after MBS, it is serious, requiring diligent suspicion and prompt treatment. Bariatric teams should emphasize compliance with multivitamin regimens and follow it up.

Descriptive spectrum of thiamine deficiency in pregnancy: A potentially preventable condition.

OBJECTIVE: Pregnancy, a nutritionally demanding situation in terms of macro- and micronutrient supply owing to heightened maternal, placental, and fetal needs, significantly affects thiamine reserves. Thiamine deficiency during pregnancy and the postpartum period, presenting with varied manifestations and outcomes, is a relatively common condition in our population. The study aimed to understand the various manifestations and outcomes of acute thiamine deficiency in pregnant and postpartum women, emphasizing the significance of early recognition and thiamine therapy to prevent serious complications during pregnancy and after childbirth. METHODS: This prospective study conducted in a tertiary care center in North India enrolled consecutive pregnant and postpartum women presenting with clinical features consistent with thiamine deficiency disorders, such as thiamine deficiency-related neuropathy, high-output heart failure, heart failure with reduced ejection fraction, Wernicke's encephalopathy, gastric beriberi, and thiamine-responsive acute pulmonary hypertension. In addition to capturing medical history including drug intake, dietary consumption, and comorbidities, women underwent brief relevant clinical examinations and laboratory assessments, including whole-blood thiamine levels. Response to intravenous thiamine supplementation was also monitored. RESULTS: Data of 31 women (12 pregnant, 19 postpartum) with a diagnosis of acute thiamine deficiency and a mean age of 28.88 ± 2.69 years were analyzed. The mean thiamine level was 1.28 ± 0.44 µg/dL with mean blood lactate of 3.46 ± 3.33. The most common presentation was gastric beriberi (n = 10), followed by paraparesis (n = 6), high-output heart failure (n = 6), acute pulmonary hypertension, heart failure with reduced ejection fraction (n = 3 each), and an acute confusional state (n = 2). All patients responded to thiamine challenge. CONCLUSION: In the context of borderline thiamine status, particularly in our population with endemic thiamine deficiency and heightened demand for thiamine during pregnancy and the peripartum period, the deficiency can have varied and serious manifestations of dry and wet beriberi. Early recognition of the clinical features and thiamine therapy can be life-saving. There is a need for validated clinical criteria owing to the non-availability of thiamine testing in resource-limited settings.

Reversible Tricuspid Regurgitation Due to Beriberi.

We report a case of cardiac beriberi in a 76-year-old man who was hospitalized with a congestive condition of subacute onset, diagnosed as high-output heart failure associated with severe tricuspid regurgitation and indication for caval valve implantation, which, after thiamine replacement, resulted in improvement of all conditions. (Level of Difficulty: Beginner.).

A Rare Case of Thiamine Deficiency Leading to Dry Beriberi, Peripheral Neuropathy, and Torsades De Pointes.

Thiamine (vitamin B1) is an essential nutrient and one of the eight B vitamins. As a water-soluble vitamin, thiamine is not stored; therefore, a balanced diet is required to ensure adequate intake of this essential vitamin. Thiamine deficiency is known to cause both wet and dry beriberi, but rarely in combination. Thiamine deficiency has also been known to cause QTc prolongation, but the mechanism remains unclear. In the most severe cases, this can lead to the lethal arrhythmia of torsades de pointes. This case describes a patient who became malnourished after a closed head injury and initially presented with seizure-like activity and syncopal episodes with nonspecific numbness. He was found to have prolonged QTc, leading to torsades de pointes requiring an implanted cardioverter defibrillator. With extensive workup, including genetic testing, the patient was found to have indetectable thiamine levels. With supplementation, the patient no longer had any recorded ventricular arrhythmias, and neurological function improved with only residual tingling in the hands. This case emphasizes the profound effects of thiamine deficiency and why this should be included in our differential diagnosis for patients presenting with the sequelae of the signs and symptoms discussed.

An Overview of Type B Lactic Acidosis Due to Thiamine (B1) Deficiency.

Type B lactic acidosis can occur secondary to several factors, including thiamine deficiency, and is not as common as type A. Recognizing thiamine deficiency-associated lactic acidosis is challenging because serum thiamine concentrations are not routinely obtained, and a thorough and specific history is necessary for clinicians to suspect thiamine deficiency as a root cause. Furthermore, the appropriate dose and duration of thiamine treatment are not well defined. Untreated thiamine deficiency-associated lactic acidosis can lead to critical illness requiring lifesaving extracorporeal therapies. Additionally, if thiamine and glucose are not administered in an appropriate sequence, Wernicke encephalopathy or Korsakoff syndrome may occur. This review aims to summarize therapeutic treatment for thiamine deficiency-associated lactic acidosis, based on case reports/series and nutritional guidance. After a literature search of the PubMed database, 63 citations met inclusion criteria, of which 21 involved pediatric patients and are the focus of this review. -Citations describe dosing regimens ranging from 25 to 1000 mg of intravenous (IV) thiamine as a single dose, or multiple daily doses for several days. Specific guidance for critically ill adults recommends a thiamine range of 100 mg IV once daily to 400 mg IV twice daily. Although there are no specific recommendations for the pediatric population, given the relative safety of thiamine administration, its low cost, and our review of the literature, treatment with thiamine 100 to 200 mg IV at least once is supported, with ongoing daily doses based on clinical response of the patient, regardless of age.

Dry Beriberi Post Roux-en-Y Gastric Bypass Surgery.

Bariatric surgery is an effective strategy for achieving substantial weight loss, prolonging survival, and improving the comorbidities associated with obesity. Nutritional deficiency is a commonly recognized post-procedural complication. Here, we present a case of a patient with paresthesia, lower extremity weakness, and altered mental status one year following Roux-en-Y gastric bypass, who was found to have multiple vitamin and micronutrient deficiencies and was diagnosed with beriberi in the setting of profound thiamine deficiency.

Heart's Dangerous Symphony: Torsade De Pointes Unleashed by Gitelman Syndrome-Induced Hypomagnesemia.

Gitelman syndrome (GS) is a rare autosomal recessive salt-losing renal tubular disorder associated with a mutation of SLC12A3 or CLCNKB genes which encodes the thiazide-sensitive sodium-chloride co-transporter (NCCT) in the distal renal tubule. It is inherited as an autosomal recessive disorder. Hypokalemia, metabolic alkalosis, hypomagnesemia, hypocalciuria, and renin-angiotensin-aldosterone system (RAAS) activation are characteristics of GS. GS is often misdiagnosed or underdiagnosed owing to its low incidence and lack of awareness. Its prevalence is estimated to be around 1-10 per 40,000 people. We report a case of cardiac arrest secondary to torsade de pointes (TdP) because of GS-induced hypomagnesemia. Our case highlights the importance of clinicians being aware of the potential electrolyte abnormalities and complications associated with GS, as it can lead to catastrophic consequences if not identified and corrected earlier.

Tropical spastic paraparesis.

A large number of causative agents can result in spinal cord disorders in the tropics including etiologies similar to those of temperate regions such as trauma, spinal bone and disc lesions, tumors, epidural abscess, and congenital malformations. Yet infectious and nutritional disorders differ in their higher prevalence in tropical regions including Pott's disease; brucellosis; neuroborreliosis; various parasitic diseases such as schistosomiasis, neurocysticercosis, and eosinophilic meningitis. Notably, the retrovirus HTLV-1 is the causeof tropical spastic paraparesis/paraplegia or TSP. Nutritional causes of TSP include vitamin B and folate deficiencies, while endemic clusters of konzo and tropical ataxic myeloneuropathy occur in Africa, along with malnutrition and excessive consumption of cyanide-containing bitter cassava. Other toxic etiologies of TSP include lathyrism and fluorosis. Nutritional forms of myelopathy are associated often with optic and sensory neuropathy, hence the name tropical myeloneuropathies. Acute transverse myelopathy, seen in association with vaccination, infections, and fibrocartilaginous embolism of the nucleus pulposus, can be ubiquitous. Multiple sclerosis and optic myelopathy occur in the tropics but with lesser prevalence than in temperate regions. The advent of modern imaging in the tropics, including computed tomography and magnetic resonance imaging, has allowed better diagnosis and treatment of these conditions that are a frequent cause of death and disability. This chapter provides an overview of TSP emphasizing the most common causes with clues to diagnosis and effective therapy.

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.

"Bariatric Beriberi": A Rare Case of Wernicke Encephalopathy Two Weeks After Laparoscopic Sleeve Gastrectomy.

Wernicke encephalopathy (WE) is an acute neurological syndrome caused by thiamine (vitamin B1) deficiency. This disorder manifests as a triad of gait ataxia, confusion, and vision abnormalities. The absence of a full triad does not rule out WE. Because of its vague presentation, WE is commonly missed in patients with no history of alcohol abuse. Other risk factors for WE include bariatric surgery, hemodialysis, hyperemesis gravidarum, and malabsorption syndromes. WE is a clinical diagnosis that can be confirmed with an MRI of the brain as hyperintensities in the mammillary bodies, periaqueductal area, thalami, and hippocampus. If suspected in a patient, WE must be immediately treated with intravenous thiamine to prevent evolution into Korsakoff syndrome, coma, or death. Currently, there is no consensus in the medical community as to how much thiamine must be given and for how long. Therefore, there is a need for more research in the diagnosis and management of WE after bariatric surgery. Herein, we report a rare case of a 23-year-old female with a history of morbid obesity who developed WE two weeks after a laparoscopic sleeve gastrectomy.

Thiamine deficiency in pregnancy and lactation: implications and present perspectives.

During pregnancy, many physiologic changes occur in order to accommodate fetal growth. These changes require an increase in many of the nutritional needs to prevent long-term consequences for both mother and the offspring. One of the main vitamins that are needed throughout the pregnancy is thiamine (vitamin B1) which is a water-soluble vitamin that plays an important role in many metabolic and physiologic processes in the human body. Thiamine deficiency during pregnancy can cause can have many cardiac, neurologic, and psychological effects on the mother. It can also dispose the fetus to gastrointestinal, pulmonological, cardiac, and neurologic conditions. This paper reviews the recently published literature about thiamine and its physiologic roles, thiamine deficiency in pregnancy, its prevalence, its impact on infants and subsequent consequences in them. This review also highlights the knowledge gaps within these topics.

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.

Protocol and application of basal erythrocyte transketolase activity to improve assessment of thiamine status.

Thiamine (vitamin B1) is an essential micronutrient required as a cofactor in many metabolic processes. Clinical symptoms of thiamine deficiency are poorly defined, hence biomarkers of thiamine status are important. The erythrocyte transketolase activity coefficient (ETKac) is a sensitive measure of thiamine status, but its interpretation may be confounded where the availability of the transketolase enzyme is limited. Basal ETK activity per gram of hemoglobin provides a complementary biomarker of thiamine status; however, its measurement and calculation are poorly described. Here, we describe in detail the assessment of basal ETK activity, including the calculation of path length in microplates and the molar absorption coefficient of NADH specific to the assay, and the measurement of hemoglobin in sample hemolysates. To illustrate the application of the methods, we present ETKac and basal ETK activity from women in The Gambia and UK. In conclusion, we present a clear protocol for the measurement of basal ETK activity that will permit the harmonization of methods to improve replication between laboratories.

Vitamin B1 Deficiency and Perimyocarditis Fulminans: A Case Study of Shoshin Syndrome in a Woman Following an Unbalanced Dietary Pattern Followed by a Literature Review.

(1) Background: vitamin B1 level depletion, known as a beriberi syndrome, can lead to severe cardiovascular complications, from which perimyocarditis fulminans is one of the most severe. (2) Methods: this is a retrospective case study that includes an adult patient with clinical presentations of acute heart failure (HF) symptoms following perimyocarditis on the grounds of thiamine deficiency. (3) Results: A 49-year-old woman presented with acute HF symptoms due to perimyocarditis. The patient suddenly developed refractory cardiogenic shock with metabolic acidosis requiring maximal medical management, including an intra-aortic balloon pump and extracorporeal membrane oxygenation. Due to additional peripheral polyneuropathy, beriberi disease was suspected after excluding other possible causes of the patient's condition. After administration of vitamin B1, clinical improvement in the patient's condition and the resolution of metabolic abnormalities were observed, which ultimately confirmed the diagnosis of Shoshin syndrome caused by the implementation of a gluten-free diet without indications for its adherence. (4) Conclusions: Fulminant beriberi disease, although considered rare, is a life-threatening condition and should always be included in the differential diagnosis of critically ill patients, notably those with malnutrition. An unbalanced diet can be detrimental and have severe consequences, i.e., perimyocarditis fulminans. However, treatment with thiamine can significantly improve the patient's cardiac function and restore hemodynamic and metabolic parameters.

The signs and symptoms of Ernest Shackleton.

Ernest Shackleton, an accomplished Antarctic explorer, developed a life-threatening illness during the Discovery Antarctic expedition of 1901-4. His documented signs and symptoms included inflamed gums attributed to scurvy, severe dyspnea, and exercise intolerance, presenting in a setting of nutritional deficiency. Physical examinations at a later date, also following a prolonged diet of limited fresh food, revealed a pulmonary systolic murmur. Thiamine deficiency with cardiomyopathy, either alone or subsequently exacerbated by advanced scurvy, may have been a prominent cause of Shackleton's condition.

Resurgence of Shoshin beriberi during the COVID-19 pandemic.

This report describes two patients who presented with severe type B lactic acidosis and shock, initially thought to be due to bowel ischaemia/myocardial infarction and pulmonary sepsis, respectively. This led to a delay in the diagnosis of thiamine deficiency. In both cases there was a dramatic response to intravenous thiamine, confirming the diagnosis of Shoshin beriberi. Both patients admitted to drinking home-brewed alcohol during the time of COVID-19 restrictions on alcohol consumption. These cases highlight the need for early diagnosis and immediate empirical treatment with intravenous thiamine in patients presenting with unexplained severe metabolic acidosis and circulatory shock.