thiamine in neurology

Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare, autosomal recessive neurometabolic disorder caused by mutations in the SLC19A3 gene and characterized by recurrent sub-acute episodes of encephalopathy. Patients with BTBGD have classical neuroimaging findings and a dramatic response to high doses of thiamine. Herein, we report on two Saudi girls with classical clinical and radiological findings of BTBGD. Hallmark symptoms in these patients included an acute onset of ataxia, tremor, slurred speech, dystonia, and dysphagia...

BACKGROUND: The prevalence of obesity among children and adolescents is rising and poses a major health concern. Bariatric surgery is well established in adults and has become an option for adolescents. Thiamine (B1) deficiency is common following bariatric surgery in adults. It may present as Beri-Beri, Wernicke encephalopathy, or Korsakoff psychosis. OBJECTIVE: Our aim was to describe the clinical features, diagnosis, and treatment of adolescents who presented with B1 deficiency after bariatric surgery at one center, and to summarize the data from the literature...

Pyruvate dehydrogenase complex (PDC) deficiency is a genetic mitochondrial disease mostly associated with severe lactic acidosis, rapid progression of neurological symptoms and death during childhood. We present a 33-year-old male with PDC deficiency caused by a Val262Leu mutation in PDHA1gene. He demonstrated generalized dystonia affecting trunk and upper extremities and paraparesis as the most significant features, with onset of symptoms at age 8. Brain MRI showed bilaterally increased signal within the globus pallidus, typical of Leigh syndrome...

BACKGROUND: Marchiafava-Bignami disease is a rare neurological disease characterized by acquired lesions of the corpus callosum. Although the major causative etiology is chronic alcoholism, a case caused by acute alcohol intoxication has not yet been reported. CASE PRESENTATION: A 19-year-old female with no known medical history or a history of chronic alcohol consumption was brought to the emergency department in a coma after binge alcohol consumption. Even after an overnight observation, she remained comatose...

BACKGROUND: Wernicke's encephalopathy (WE) is an acute neurological syndrome resulting from thiamine (vitamin B1) deficiency. It has been recognized increasingly in non-alcoholic patients, such as in the condition of malnutrition. Recent literature has shed light on uncommon symptoms and neuroimaging findings. CASE REPORT: We reported a case of a 44-year-old male who initially presented with bilateral hearing loss, and exhibited abnormality in the splenium of the corpus callosum on magnetic resonance imaging (MRI) diffusion-weighted imaging sequence...

KEY CLINICAL MESSAGE: Marchiafava-Bignami disease, a rare condition often associated with alcoholism, shows myelin degeneration with tissue necrosis specifically in the corpus callosum. Urgent application of magnetic resonance imaging could lead to prompt diagnosis. ABSTRACT: A 66-year-old male with habitual alcohol drink complained acute deterioration of left-side muscle weakness as initial presentation. On the arrival, the patient was confused, with stable vital sign and unremarkable pyramidal sign...

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...

The health risks and harm associated with regular alcohol consumption are well documented. In a recent WHO statement published in The Lancet Public Health alcohol consumption has been estimated to contribute worldwide to 3 million deaths in 2016 while also being responsible for 5·1% of the global burden of disease and injury. The total elimination of alcohol consumption, which has been long imbedded in human culture and society, is not practical and prohibition policies have proved historically ineffective...

Hyperemesis gravidarum is the most common condition requiring hospital care for women during the first 20 weeks of pregnancy and may lead to malnutrition, dehydration, and vitamin deficiencies. Depletion of vitamins such as thiamine may result in the development of Wernicke encephalopathy, a severe neurological disorder that can increase the risk for mortality and morbidity for the mother and fetus. A lack of awareness regarding the relationship of hyperemesis gravidarum and Wernicke encephalopathy may result in delayed treatment and disease management...

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...

AIMS: Chronic alcohol consumption is well known to cause peripheral neuropathy, affecting both small and large nerve fibers. The aim of this study was to correlate biochemical and neurophysiological findings and investigate possible biomarkers and risk factors for pathogenetic mechanisms of neuropathy in patients diagnosed with alcohol use disorder (AUD). METHODS: Ninety patients diagnosed with AUD were enrolled in this prospective study over a period of 3 years...

Korsakoff syndrome and Wernicke's encephalopathy (WE) show neurological and cognitive deficits. Wernicke-Korsakoff syndrome (WKS) is a compound neurological condition. The cause of this neurological condition could be the consumption of alcohol regularly for a chronic duration. A tailored rehabilitation protocol that focuses on cognitive and physical deficiencies was implemented along with thiamine supplementation for managing a case of a 49-year-old male patient who had a history of high alcohol consumption and was exhibiting typical signs of WKS...

INTRODUCTION: Elevated lactate is associated with mortality after cardiac arrest. Thiamine, a cofactor of pyruvate dehydrogenase, is necessary for aerobic metabolism. In a mouse model of cardiac arrest, thiamine improved pyruvate dehydrogenase activity, survival and neurologic outcome. AIM: To determine if thiamine would decrease lactate and increase oxygen consumption after in-hospital cardiac arrest. METHODS: Randomized, double-blind, placebo-controlled phase II trial...

INTRODUCTION: Thiamine is a key cofactor for aerobic metabolism, previously shown to improve mortality and neurological outcomes in a mouse model of cardiac arrest. We hypothesized that thiamine would decrease lactate and improve outcomes in post-arrest patients. METHODS: Single center, randomized, blinded, placebo-controlled, Phase II trial of thiamine in adults within 4.5 hours of return of spontaneous circulation after out-of-hospital cardiac arrest (OHCA), with coma and lactate ≥ 3 mmol/L...

BACKGROUND: Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy (PEBEL-1) is an autosomal recessive disorder whereby a fluctuating clinical course is exacerbated by febrile illnesses. Pathogenic NAD(P)HX epimerase ( NAXE ) gene mutations underpin this disorder. This mutation damages the metabolite repair system involved in regenerating crucial redox carriers. Longer survival has rarely been reported in this potentially actionable entity. OBJECTIVES: This case study aims to report a milder phenotype of a patient with NAXE gene mutation and his longitudinal follow-up of more than 20 years...

We report a child with steroid-dependent nephrotic syndrome presenting with excessive irritability, double vision and inability to walk for 5 days. On examination, the child was irritable with Glasgow coma sccale (GCS of 12/15, had bilateral convergent squint (R>L), vertical nystagmus, ataxia without any focal neurological deficits and normal fundus. MRI brain with venogram showed bilateral symmetric FLAIR hyperintensity in the medial thalamus and periaqueductal grey matter showing diffuse restriction with normal venogram...

Wernicke-Korsakoff Syndrome (WKS) is a severe neurological disorder resulting from thiamine deficiency, commonly associated with alcohol consumption but also stemming from dietary imbalances or other clinical conditions. Cognitive deficits, affecting memory and executive functions, pose a serious concern, with partial recovery often not complete. A 28-year-old woman underwent surgery for acute necrotizing hemorrhagic pancreatitis, leading to admission for post-acute intensive treatment due to prolonged bed rest syndrome...

Dihydrolipoamide dehydrogenase (DLD) deficiency is a rare disease of genetic origin due to the malfunctioning of a shared subunit of three mitochondrial multi-enzyme complexes. Phenotypes of this disease are a set of clinical manifestations ranging from neonatal disorders to myopathy or recurrent episodes of liver failures, and vomiting for which no adequate or definitive treatment is currently available. This study described a case involving a 16-year-old boy who had experienced recurrent vomiting of unknown cause from age two...

Wernicke encephalopathy (WE) is a rare neurological disorder that results from vitamin B1 (Thiamin) deficiency, classically characterized by the triad of ophtalmoplagia, altered consciousness, and ataxia. WE is often associated with alcoholism, malnutrition, or gastrointestinal diseases with malabsorption. The association of «gravidarum hyperemesis» and WE seems to be underestimated. We report a 24-year-old pregnant woman with hyperemesis gravidarum, who presented with decreased visual acuity of both eyes...

Thiamine deficiency can result in life-threatening physiological and neurological complications. While a thiamine-deficient diet may result in the onset of such symptoms, the presence of thiaminase - an enzyme that breaks down thiamine - is very often the cause. In such instances, thiaminase counteracts the bioavailability and uptake of thiamine, even when food-thiamine levels are adequate. Here, we report on a case of failed reproduction in seven Arctic fox (Vulpes lagopus) breeding pairs kept at a captive breeding facility, including the presentation of severe thiamine deficiency symptoms in two male foxes...