Síndrome de Wernicke-Korsakoff em paciente gestante de 18 anos / Wernicke-Korsakoff syndrome in an 18-year-old pregnant patient

A síndrome de Wernicke-Korsakoff é uma rara encefalopatia desencadeada pela deficiência de tiamina, uma vitamina do complexo B, que atua como importante cofator de enzimas responsáveis pela manutenção da homeostase da energia cerebral. Apresentamos o caso de uma paciente de 18 anos, gestante, com diagnóstico prévio de pancreatite aguda biliar, que evoluiu à hiperêmese gravídica e à Wernicke-Korsakoff. Objetivamos, com este trabalho, chamar a atenção para a importância do diagnóstico imediato dessa síndrome diante de seu potencial em causar danos cerebrais irreversíveis, caso não tratada precocemente.

Wernicke-Korsakoff syndrome is a rare encephalopathy triggered by deficiency of thiamine, a B-complex vitamin, which acts as an important cofactor of enzymes responsible for maintaining brain energy homeostasis. We present the case of an 18-year-old pregnant woman with previous diagnosis of acute biliary pancreatitis, who developed hyperemesis gravidarum and Wernicke-Korsakoff. With this work, we aim to draw attention to the importance of the immediate diagnosis of this syndrome in view of its potential to cause irreversible brain damage if not treated early.

Bilateral Hearing Loss in Wernicke Encephalopathy

Wernicke encephalopathy is a syndrome caused by thiamine deficiency whose three typical symptoms are ophthalomoplegia, ataxia, and confusion. There are also rare reports of bilateral hearing loss, which can be caused by damage to the bilateral inferior colliculus or thalamic lesions, or by energy failure of the cochlea. This case suggests that thiamine should be administered based on the possibility of Wernicke encephalopathy occurring in malnourished or alcoholic patients with sudden bilateral hearing loss.

Thiamine Deficiency in a Child with Short Bowel Syndrome and Review / 대한소아소화기영양학회지

Thiamine (vitamin B₁) is a water-soluble vitamin that is not endogenously synthesized in humans. It is absorbed by the small intestine, where it is activated. Its active form acts as a coenzyme in many energy pathways. We report a rare case of thiamine deficiency in a 3.5-year old boy with short bowel syndrome secondary to extensive bowel resection due to necrotizing enterocolitis during his neonatal age. The patient was parenteral nutrition-dependent since birth and had suffered from recurrent central catheter-related bloodstream infections. He developed confusion with disorientation and unsteady gait as well as profound strabismus due to bilateral paresis of the abductor muscle. Based on these and a very low thiamine level he was diagnosed and treated for Wernicke encephalopathy due to incomplete thiamine acquisition despite adequate administration. He fully recovered after thiamine administration. After 1999 eight more cases have been reported in the PubMed mostly of iatrogenic origin.

Wernicke's encephalopathy in a patient with non-Hodgkin's lymphoma post-Autologous HSCT

SUMMARY Wernick's Encephalopathy (WE) is an acute neuropsychiatric syndrome caused by thiamine deficiency post hematopoietic stem cell transplant (HSCT). WE is associated with high mortality and morbidity rates, but due to its rare occurrence, it is rarely considered in patients submitted to this procedure. Considering that, the manuscript reports the clinical characteristics and the possible factors that predisposed the occurrence of WE in a patient with non-Hodgkin's lymphoma post-Autologous HSCT. We conclude that WE should be considered in patients submitted to autologous HSCT associated with prolonged use of TPN and malnutrition.

Encefalopatía de Wernicke secundario a hiperémesis gravídica: la importancia del diagnóstico temprano / Wernicke encephalopathy secondary to hyperemesis gravidarum: importance of early diagnosis

RESUMEN Introducción: La hiperémesis gravídica (HG) es una condición frecuente en el embarazo, que puede resultar en complicaciones potencialmente letales como la encefalopatía de Wernicke (EW), síndrome que al ser reconocido y tratado tardíamente puede traducirse en una alta morbi-mortalidad materna y fetal. Objetivo: Describir el primer caso de EW secundario a HG en Colombia y realizar una revisión de la literatura publicada sobre su diagnóstico y tratamiento. Materiales y métodos: Se describe un caso de EW secundario a HG en el que se brindó un manejo interdisciplinario. Se realizó una revisión de la literatura con los términos "encefalopatía de Wernicke", "hiperémesis gravídica" y "embarazo" incluyendo reportes de casos, series de casos, artículos de revisión, investigaciones originales o cartas al editor en inglés, español y francés, en donde se analizaron el método y tiempo del diagnóstico, pauta de tratamiento y estado funcional final. Resultados: Se incluyeron 69 publicaciones y se identificaron 89 casos. En 23 de ellos se presentó pérdida gestacional, sólo en el 12,4% de los casos se reportó el nivel de tiamina, de los cuales en el 90% se encontraba disminuido y de los casos en donde se reportó estado funcional final en el 5,9% la gestante falleció. Conclusión: La EW secundaria a HG es una complicación potencialmente letal. Debe sospecharse ante cualquier alteración neurológica e historia de emesis persistente. El diagnóstico y tratamiento oportuno interdisciplinario son fundamentales para disminuir el riesgo de secuelas que limitan la capacidad funcional con alto impacto en la calidad de vida.

ABSTRACT Introduction: Hyperemesis gravidarum (HG) is a frequent condition in pregnancy, which can result in potentially lethal complications such as Wernicke encephalopathy (WE), a syndrome that can be translated into a high maternal and fetal morbidity and mortality if it is recognized and treated late. Objective: To describe the first case of WE due to HG in Colombia and to review the published literature about its diagnosis and treatment. Materials and methods: We describe a case of WE due to HG with an interdisciplinary approach. A review of the literature was performed with the terms "Wernicke's encephalopathy", "hyperemesis gravidarum" and "pregnancy" including case reports, case series, review articles, original investigations or letters to the editor in English, Spanish and French, where the method and time of the diagnosis, treatment regimen and sequelae were analyzed. Results: Sixty-nine publications were included and 89 cases were identified. In 23 of them had a gestational loss, only in 12.4% of the cases the thiamine level was reported, in which 90% was diminished and in the cases where the final functional status was reported in 5.9% of the pregnant woman died. Conclusion: WE due to HG is a potentially lethal complication. In any neurological disturbance and history of persistent emesis it should be suspected. Timely interdisciplinary diagnosis and treatment are essential to reduce the risk of sequelae that limit functional capacity with a high impact on quality of life.

Thiamine deficiency contributes to synapse and neural circuit defects

BACKGROUND: The previous studies have demonstrated the reduction of thiamine diphosphate is specific to Alzheimer's disease (AD) and causal factor of brain glucose hypometabolism, which is considered as a neurodegenerative index of AD and closely correlates with the degree of cognitive impairment. The reduction of thiamine diphosphate may contribute to the dysfunction of synapses and neural circuits, finally leading to cognitive decline. RESULTS: To demonstrate this hypothesis, we established abnormalities in the glucose metabolism utilizing thiamine deficiency in vitro and in vivo, and we found dramatically reduced dendrite spine density. We further detected lowered excitatory neurotransmission and impaired hippocampal long-term potentiation, which are induced by TPK RNAi in vitro. Importantly, via treatment with benfotiamine, Aß induced spines density decrease was considerably ameliorated. CONCLUSIONS: These results revealed that thiamine deficiency contributed to synaptic dysfunction which strongly related to AD pathogenesis. Our results provide new insights into pathogenesis of synaptic and neuronal dysfunction in AD.

Metronidazole-Induced Encephalopathy with Thiamine Deficiency

Metronidazole-induced encephalopathy (MIE) can be caused by excessive dose or prolonged metronidazole administration. The signal abnormalities in the cerebellar dentate nuclei, midbrain, dorsal pons and corpus callosum on magnetic resonance imaging are considered as the characteristic feature of MIE. Although the mechanism of MIE remains to be elucidated, various hypothesis have been proposed including the role of metronidazole as a thiamine antagonist. Here we report a 58-year-old woman with MIE who coincidentally presented with thiamine deficiency.

Síndrome de anemia megaloblástica sensible a la tiamina de aparición en la niñez, con mutación en el genSLC19A2: caso clínico / Infantile-onset thiamine responsive megaloblastic anemia syndrome with SLC19A2 mutation: a case report

Antecedentes. El síndrome de anemia megaloblástica sensible a la tiamina (TRMA, por sus siglas en inglés), también conocido como síndrome de Rogers, se caracteriza por presentar anemia megaloblástica, hipoacusia neurosensorial y diabetes mellitus. Las alteraciones en el transporte de la tiamina hacia las células se deben a mutaciones homocigotas o heterocigotas compuestas en el gen SLC19A2. Presentación de un caso. Presentamos el caso de una niña que manifestaba sordera neurosensorial tratada con una prótesis auditiva, diabetes con necesidad de insulina y anemia macrocítica, tratada con tiamina (100 mg/día). El nivel de hemoglobina mejoró hasta alcanzar 12,1 g/dl después de aumentar la dosis terapéutica de tiamina hasta 200 mg/día. Conclusión. Se debe evaluar a los pacientes con TRMA para detectar anemia megaloblástica, hipoacusia neurosensorial y diabetes mellitus. Se les debe dar seguimiento para determinar la respuesta de la enfermedad hematológica y de la diabetes después de la terapia con tiamina. La dosis terapéutica de tiamina puede aumentarse según la respuesta clínica. Debe proporcionarse asesoramiento genético.

Background. Thiamine-responsive megaloblastic anemia syndrome (TRMA), also known as Rogers syndrome, is characterized by megaloblastic anemia, sensorineural hearing loss, and diabetes mellitus. Disturbances of the thiamine transport into the cells results from homozygous or compound heterozygous mutations in the SLC19A2 gene. Case presentation. We report a girl which presented with sensorineural deafness treated with a hearing prosthesis, insulin requiring diabetes, macrocytic anemia, treated with thiamine (100 mg/day). Hemoglobin level improved to 12.1 g/dl after dose of thiamine therapy increased up to 200 mg/day. Conclusion. Patients with TRMA must be evaluated for megaloblastic anemia, sensorineural hearing loss, and diabetes mellitus. They must be followed for response of hematologic and diabetic after thiamine therapy. It should be kept in mind that dose of thiamine therapy may be increased according to the clinical response. Genetic counseling should be given.

Wernicke's encephalopathy with chorea: Neuroimaging findings / Encefalopatia de Wernick e Coreia: achados de neuroimagem

ABSTRACT We present a case report of motor and cognitive disorders in a 36-year-old woman with a history of twelve years of heavy alcohol abuse. The patient presented depressive symptoms over the course of one year after a loss in the family, evolving with ataxia, bradykinesia and choreiform movements. Progressive cognitive decline, sleep alterations and myalgia were also reported during the course of disease evolution. Physical examination revealed spastic paraparesis with fixed flexion of the hips and knees with important pain upon extension of these joints. Initial investigation suggested the diagnosis of thiamine deficiency by brain magnetic resonance imaging (MRI).

RESUMO Um relato de caso de transtornos motor e cognitivo em uma mulher de 36 anos, com história de doze anos de abuso de álcool. A paciente apresentou sintomas depressivos ao longo de um ano após uma perda na família, evoluindo com ataxia, bradicinesia e movimentos coreiformes. O declínio cognitivo progressivo, alterações do sono e mialgia também foram relatados durante o curso da evolução da doença. O exame físico demonstrou paraparesia espástica com flexão fixa dos quadris e joelhos com dor importante na extensão dessas articulações. A investigação inicial sugeriu o diagnóstico de deficiência de tiamina por ressonância magnética cerebral (MRI).

Wernicke's Encephalopathy with Intracranial Hemorrhage

Wernicke's encephalopathy (WE) is an acute neurological disorder resulting from thiamine deficiency. Early diagnosis and treatment of WE is important to avoid persistent brain damage. Although histopathologic examination usually demonstrates pin-point hemorrhages in affected brain parenchyma, secondary hemorrhage is a rare but serious complication of WE. We experienced a rare case of intracranial hemorrhage related to WE in a 56-year-old male patient with malnourishment.

Wernicke's encephalopathy in a patient with masticator and parapharyngeal space abscess: a case report

Wernicke's encephalopathy is a fatal neurological disease caused by thiamine deficiency. Many reports indicate that Wernicke's encephalopathy is caused by malnutrition. We report the case of a 79-year-old female patient who had a left masticator space and parapharyngeal space abscess who was diagnosed with Wernicke's encephalopathy. She reported problems while eating due to the presence of the abscess, but the true quantities of food she was ingesting were never assessed. Clinicians have a responsibility to provide adequate nutritional support by ensuring that patients receive adequate nutrition. Clinicians should also keep in mind that Wernicke's encephalopathy may occur in patients who experienced prolonged periods of malnutrition.

Nonalcoholic Wernicke's Encephalopathy With Diffuse Cortical Involvement

Wernicke's encephalopathy is an acute neurological deterioration due to a reversible brain lesion caused by thiamine deficiency. Most of the affected patients are thiamine-depleted alcoholics, and the condition usually involves the medial thalami, mammillary bodies, and periaqueductal area. However, there are rare reports of lesions in the cerebellum and cerebral cortex, especially in patients with nonalcoholic Wernicke's encephalopathy. We report a case of nonalcoholic Wernicke's encephalopathy involving atypical diffuse cortical regions, and review previously reported cases.

Wernicke's encephalopathy after total parenteral nutrition in patients with Crohn's disease

Micronutrient deficiencies in Crohn's disease (CD) patients are not uncommon and usually result in a combination of reduced dietary intake, disease-related malabsorption, and a catabolic state. Decreased serum thiamine levels are often reported in patients with CD. Wernicke's encephalopathy (WE) is a severe form of thiamine deficiency that can cause serious neurologic complications. Although WE is known to occur frequently in alcoholics, a number of non-alcoholic causes have also been reported. Here, we report two cases of non-alcoholic WE that developed in two severely malnourished CD patients who were supported by prolonged total parenteral nutrition without thiamine supplementation. These patients complained of sudden-onset ophthalmopathy, cerebellar dysfunction, and confusion. Magnetic resonance imaging allowed definitive diagnosis for WE despite poor sensitivity. The intravenous administration of thiamine alleviated the symptoms of WE dramatically. We emphasize the importance of thiamine supplementation for malnourished patients even if they are not alcoholics, especially in those with CD.

Wernicke Encephalopathy after Endoscopic Necrosectomy in Acute Necrotizing Pancreatitis with WOPN: A Case Report / 대한췌담도학회지

Infected walled-off pancreatic necrosis (WOPN) is dangerous complication of acute pancreatitis. Open necrosectomy and post-operative irrigation of necrotic cavity have been conventional treatment for infected pancreatic necrosis, however, recently minimally invasive techniques such as endoscopic necrosectomy has been regarded as preferred treatment method for infected WOPN. Endoscopic necrosectomy provides a targeted approach with a reduction in the systemic inflammatory response and avoidance of wound complications. Non alcohol related Wernicke encephalopathy is rare disease caused by thiamine deficiency due to intravenous feeding, and presented an encephalopathy, oculomotor dysfunction, gait ataxia. We report herein a case of Wernicke encephalopathy after successful endoscopic necrosectomy for infected WOPN.

Encefalopatía inducida por 5-fluorouracilo Un mismo agente, dos entidades diferentes / Encephalopathy induced by 5-fluorouracil The same agent, two different entities

La neurotoxicidad de los medicamentos antineoplásicos es un fenómeno de relativa frecuencia, que ocurre principalmente sobre el sistema nervioso periférico y más comúnmente con fármacos citotóxicos como platinos, taxanos y derivados de la vinca. La toxicidad sobre el sistema nervioso central asociado al uso del 5-fluorouracilo es por el contrario un evento poco común, pero no por ello menos importante. El clínico debe aprender a reconocer y tratar las dos variedades de esta condición médica: la encefalopatía aguda y la leucoencefalopatía subaguda; cada una con fisiopatología, manifestaciones clínicas y tratamiento diferentes. La siguiente presentación de casos ejemplifica estas dos variedades y brinda elementos diagnósticos y terapéuticos para cada una de ellas. (ActaMed Colomb 2015; 40: 338-344).

The neurotoxicity of anticancer drugs is a relatively common phenomenon, occurring mainly on the peripheral nervous system, most commonly with cytotoxic drugs such as platinum, taxanes and vinca derivatives. Toxicity on the central nervous system associated with the use of 5-fluorouracil is on the contrary a rare event, which does not make it less important. The clinician must learn to recognize and treat the two varieties of this medical condition: acute encephalopathy and sub-acute leukoencephalopathy, each with different pathophysiology, clinical manifestations and treatment. The following case presentation illustrates these two varieties and provides diagnostic and therapeutic elements for each one of them. (Acta Med Colomb 2015; 40: 338-344).

A Critical Case of Wernicke's Encephalopathy Induced by Hyperemesis Gravidarum / 대한구급학회지

Wernicke's encephalopathy is a reversible but potentially critical disease caused by thiamine deficiency. Most patients complain of symptoms such as ophthalmoplegia, ataxia and confusion. Heavy alcohol drinking is commonly associated with the disease, but other clinical conditions also can provoke it. In pregnant women, hyperemesis gravidarum can lead to the depletion of body thiamine due to poor oral intake and a high metabolic demand. We report a case of Wernicke's encephalopathy following hyperemesis gravidarum in a 36-year-old female at 20 weeks of pregnancy, who visited our hospital because of shock with vaginal bleeding. This case suggests that although the initial presentation may include atypical symptoms (e.g., shock or bleeding), Wernicke's encephalopathy should be considered, and thiamine replacement should be performed in pregnant women with neurologic symptoms and poor oral intake.

A Critical Case of Wernicke's Encephalopathy Induced by Hyperemesis Gravidarum / 대한중환자의학회지

Wernicke's encephalopathy is a reversible but potentially critical disease caused by thiamine deficiency. Most patients complain of symptoms such as ophthalmoplegia, ataxia and confusion. Heavy alcohol drinking is commonly associated with the disease, but other clinical conditions also can provoke it. In pregnant women, hyperemesis gravidarum can lead to the depletion of body thiamine due to poor oral intake and a high metabolic demand. We report a case of Wernicke's encephalopathy following hyperemesis gravidarum in a 36-year-old female at 20 weeks of pregnancy, who visited our hospital because of shock with vaginal bleeding. This case suggests that although the initial presentation may include atypical symptoms (e.g., shock or bleeding), Wernicke's encephalopathy should be considered, and thiamine replacement should be performed in pregnant women with neurologic symptoms and poor oral intake.

A Case of Wernicke's Encephalopathy Presenting as Acute Bilateral Wrist Drop / 대한임상신경생리학회지

Thiamine deficiency can cause peripheral polyneuropathy and Wernicke's encephalopathy. Wernicke's encephalopathy is characterized by ataxia, ophthalmoplegia, nystagmus, and confusion, and typically presents acute and rapidly progressive course, whereas peripheral neuropathy associated with thiamine deficiency manifests chronic and slowly progressive one. However, acute and rapidly progressive axonal polyneuropathy combined with Wernicke's encephalopathy is quite rare and unusual. Here, we describe a patient with Wernicke's encephalopathy who presented with acute bilateral axonal neuropathy.

Cardiovascular beriberi: rare cause of reversible pulmonary hypertension / 영남의대학술지

Cardiovascular beriberi is caused by thiamine deficiency and usually presents as high cardiac output failure associated with predominantly right-sided heart failure and rapid recovery after treatment with thiamine. Because of its rarity in developed countries, the diagnosis can often be delayed and missed. We recently experienced a case of cardiovascular beriberi with pulmonary hypertension which successfully treated with thiamine infusion. A 50-year-old man with chronic heavy alcoholics was refered to our department for dyspnea with mental change. Echocardiography showed marked right ventricular (RV) dilatation and flattening of the interventricular septum with a D-shaped deformation of the left ventricle. Moderate tricuspid valve regurgitation was found and estimated RV systolic pressure was 52 mm Hg. Because of his confused mentality and history of chronic alcohol intake, neurological disorder due to thiamine deficiency was suspected and intravenous thiamine was administered and he continuously received a daily dose of 100 mg of thiamine. Follow up echocardiography showed marked reduction of RV dilatation and improvement of a D-shaped deformation of the left ventricle. He finally diagnosed as cardiovascular beriberi on the basis of dramatic response to intravenous thiamine. Thiamine deficiency can cause reversible pulmonary hypertension, and can still be encountered in the clinical setting. Thus high index of suspicion is critically needed for diagnosis.

Wernicke's encephalopathy in a child with high dose thiamine therapy / 소아과

Wernicke's encephalopathy is an acute neurological disorder characterized by mental confusion, oculomotor dysfunction, and ataxia. It has been reported in individuals with alcohol dependence, hyperemesis gravidarum, and prolonged parenteral nutrition without vitamin supplementation. Here we present the case of a 13-year-old male patient with neuroblastoma and a history of poor oral intake and nausea for 3 months. After admission, he showed gait disturbances, nystagmus, and excessive dizziness; his mental state, however, indicated he was alert, which did not fit the classical triad of Wernicke's encephalopathy. A diagnosis of Wernicke's encephalopathy was made only after brain magnetic resonance imaging and serum thiamine level analyses were performed. The patient's symptoms remained after 5 days of treatment with 100-mg thiamine once daily; thus, we increased the dosage to 500 mg 3 times daily, 1,500 mg per day. His symptoms then improved after 20 days of replacement therapy. This case report describes a pediatric patient who was promptly diagnosed with Wernicke's encephalopathy, despite only 2 suspicious symptoms, and who completely recovered after high doses of thiamine were given intravenously.