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1.
SLC19A3 related disorder: Treatment implication and clinical outcome of 2 new patients.
Tonduti, D, Invernizzi, F, Panteghini, C, Pinelli, L, Battaglia, S, Fazzi, E, Zorzi, G, Moroni, I, Garavaglia, B, Chiapparini, L, et al
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 2018;(2):332-335
Abstract
Encephalopathies with neostriatal involvement constitute a heterogeneous group of acquired and genetically inherited conditions that include Bilateral Striatal Necrosis (BSN) and other Striatal Lesions (SL) (Tonduti et al). We describe two new patients suffering from BSN due to biallelic SLC19A3 mutations. In the first patient vitamin supplementation was started early on, resulting in the remission of the clinical picture, and an almost complete normalization of the neuroradiological findings. In the second one treatment was started late, compliance was irregular and the resulting clinical outcome was poor. The clinical outcome of our two patients confirms and further stresses the importance of the early administration of vitamin supplementation in all patients presenting with neostriatal lesions, or clear bilateral striatal necrosis. Patient 2 didn't present any additional episode of acute decompensation after the age of 20 years despite having completely stopped treatment. This suggests the existence of an age dependency of thiamin requirement in humans.
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2.
High-dose Parenteral Thiamine in Treatment of Wernicke's Encephalopathy: Case Series and Review of the Literature.
Nishimoto, A, Usery, J, Winton, JC, Twilla, J
In vivo (Athens, Greece). 2017;(1):121-124
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Abstract
BACKGROUND Thiamine deficiency can lead to Wernicke's encephalopathy (WE), an acute and potentially life-threatening neurological disorder. Even though the main treatment modality for WE consists of thiamine replacement, evidence supporting an optimal dosing strategy and duration is unclear. PATIENTS AND METHODS We present a single-center case series of eleven patients that were admitted with possible WE and treated with high-dose parenteral thiamine. RESULTS Patients with suspected WE were treated with ≥500 mg intravenous thiamine for a median of 3 days with 73% of patients (eight out of eleven) displaying symptom resolution or improvement after treatment. No significant correlation between symptom resolution and timing of high-dose thiamine initiation (median=92 h) was identified. In patients whose symptoms resolved compared to those whose symptoms did not, there were no differences in patient variables nor adverse effects related to thiamine treatment. CONCLUSION High-dose thiamine (≥500 mg) appears safe and efficacious for use in patients with suspected WE.
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3.
Nonalcoholic Wernicke's encephalopathy.
Welsh, A, Rogers, P, Clift, F
CJEM. 2016;(4):309-12
Abstract
Wernicke's encephalopathy (WE) is a serious neurologic condition resulting from thiamine deficiency. The majority of cases involve alcoholism; however, nonalcohol-associated WE does occur and is under-recognized. We discuss a case of a 22-year-old man with a history of Crohn's disease who presented to our emergency department with multiple neurologic complaints related to WE.
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4.
Stem Cell Transplant-Associated Wernicke Encephalopathy in a Patient with High-Risk Neuroblastoma.
Darlington, WS, Pinto, N, Hecktman, HM, Cohn, SL, LaBelle, JL
Pediatric blood & cancer. 2015;(12):2232-4
Abstract
Children undergoing intense cancer treatment frequently require total parenteral nutrition (TPN). Rarely, vitamins are removed due to hypersensitivity to the carrier vehicle in the formulation. We present the case of a 5-year-old patient with stage 4, high-risk neuroblastoma who developed altered mental status, ataxia, and tachycardia during consolidative autologous stem cell transplantation. Skin findings and brain MRI were consistent with thiamine (vitamin B1) deficiency and Wernicke encephalopathy. Vitamin B1 administration rapidly reversed all skin and neurologic symptoms. This case highlights the importance of close monitoring of micronutrients in pediatric patients receiving prolonged courses of chemotherapy and stem cell transplantation.
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5.
Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review.
Castiglioni, C, Verrigni, D, Okuma, C, Diaz, A, Alvarez, K, Rizza, T, Carrozzo, R, Bertini, E, Miranda, M
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 2015;(5):497-503
Abstract
BACKGROUND Pyruvate dehydrogenase (PDH) deficiency is a disorder of energy metabolism with variable clinical presentations, ranging from severe infantile lactic acidosis to milder chronic neurological disorders. The spectrum of clinical manifestations is continuously expanding. METHODS AND RESULTS We report on a 19-year-old intelligent female with PDH deficiency caused by a Leu216Ser mutation in PDHA1. She presented with recurrent hemidystonic attacks, triggered by prolonged walking or running, as the unique clinical manifestation that manifested since childhood. Laboratory workup and neuroimages were initially normal but bilateral globus pallidum involvement appeared later on brain MRI. Dystonia completely remitted after high doses of thiamine, remaining free of symptoms after 3 years of follow up. We reviewed the literature for similar observations. CONCLUSIONS Dystonia precipitated by exercise may be the only symptom of a PDH deficiency, and the hallmark of the disease as high serum lactate or bilateral striatal necrosis at neuroimaging may be absent. A high index of suspicion and follow up is necessary for diagnosis. The clinical presentation of this patient meets the criteria for a Paroxysmal Exercise induced Dystonia, leading us to add this entity as another potential etiology for this type of paroxysmal dyskinesia, which is besides a treatable condition that responds to thiamine supplementation.
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6.
Altered and unstable: wet beriberi, a clinical review.
Chisolm-Straker, M, Cherkas, D
The Journal of emergency medicine. 2013;(3):341-4
Abstract
BACKGROUND Undifferentiated altered mental status and hemodynamic instability are common presenting complaints in the Emergency Department (ED). Emergency practitioners do not have the luxury of time to perform sequential examination, history, testing, diagnosis, and treatment. Rather, we do all of these things at once to save lives and decrease morbidity. An important diagnosis to consider and upon which we can easily intervene is that of thiamine deficiency. OBJECTIVES We present a case of an altered and unstable woman who presented to our busy ED and had rapid improvement after the administration of vitamin B1. We discuss the presentation, pathophysiology, consequences of missed diagnosis, and management of this disease process. CASE REPORT A middle-aged woman presented to our ED with unstable vital signs and an alteration in her mental status. She was unable to provide a history. Empiric treatment with thiamine resulted in the resolution of her hemodynamic instability and improvement in her mental status. CONCLUSION Our patient benefited from the swift administration of thiamine and illustrates the importance of thiamine administration in the altered or hemodynamically unstable emergency patient with an elevated lactate.
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7.
Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia.
Shaw-Smith, C, Flanagan, SE, Patch, AM, Grulich-Henn, J, Habeb, AM, Hussain, K, Pomahacova, R, Matyka, K, Abdullah, M, Hattersley, AT, et al
Pediatric diabetes. 2012;(4):314-21
Abstract
Permanent neonatal diabetes mellitus (PNDM) is diagnosed within the first 6 months of life, and is usually monogenic in origin. Heterozygous mutations in ABCC8, KCNJ11, and INS genes account for around half of cases of PNDM; mutations in 10 further genes account for a further 10%, and the remaining 40% of cases are currently without a molecular genetic diagnosis. Thiamine-responsive megaloblastic anaemia (TRMA), due to mutations in the thiamine transporter SLC19A2, is associated with the classical clinical triad of diabetes, deafness, and megaloblastic anaemia. Diabetes in this condition is well described in infancy but has only very rarely been reported in association with neonatal diabetes. We used a combination of homozygosity mapping and evaluation of clinical information to identify cases of TRMA from our cohort of patients with PNDM. Homozygous mutations in SLC19A2 were identified in three cases in which diabetes presented in the first 6 months of life, and a further two cases in which diabetes presented between 6 and 12 months of age. We noted the presence of a significant neurological disorder in four of the five cases in our series, prompting us to examine the incidence of these and other non-classical clinical features in TRMA. From 30 cases reported in the literature, we found significant neurological deficit (stroke, focal, or generalized epilepsy) in 27%, visual system disturbance in 43%, and cardiac abnormalities in 27% of cases. TRMA should be considered in the differential diagnosis of diabetes presenting in the neonatal period.
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8.
Thiamine-responsive megaloblastic anemia syndrome: long term follow-up.
Borgna-Pignatti, C, Azzalli, M, Pedretti, S
The Journal of pediatrics. 2009;(2):295-7
Abstract
Thiamine-responsive megaloblastic anemia is a rare autosomal recessive disorder whose main symptoms are anemia, diabetes mellitus, and sensorineural deafness. We describe a 20-year follow-up of 2 previously reported patients and of 1 patient diagnosed before onset of symptoms and treated with thiamine since the first sign of disease.
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9.
Wernicke's encephalopathy during parenteral nutrition.
Francini-Pesenti, F, Brocadello, F, Famengo, S, Nardi, M, Caregaro, L
JPEN. Journal of parenteral and enteral nutrition. 2007;(1):69-71
Abstract
BACKGROUND Thiamine deficiency in humans affects the cardiovascular, muscular, nervous, and gastrointestinal systems. Wernicke's encephalopathy is described in alcoholism, in hyperemesis gravidarum, and in prolonged IV feeding without vitamin supplementation. METHODS We report a case of a 66-year-old man undergoing surgery for acute necrotic-hemorrhagic pancreatitis, who presented a Wernicke's syndrome during parenteral nutrition (PN). After surgery, he was treated with infusion of industrial 3-compartment bags, without vitamin supplementation. On the seventh postoperative day, nausea and vomiting began, and 5 days later the patient showed diplopia, ataxia, general muscular stiffness, reduction of osteotendinous reflexes, confusional state, and thrombocytopenia. The magnetic resonance scan evidenced pathologic changes in the medial thalamus, in the third and fourth ventricular floor, in the cerebellar vermis, and in the periaqueductal gray substance. RESULTS All neurologic signs and platelet blood count gradually normalized after IV supplementation of thiamine, 100 mg daily. The magnetic resonance scan repeated 40 days after the first one was normal. CONCLUSIONS Our report points out the risk of incorrect procedures in management of industrial 3-compartment bags. Moreover, we suggest that thrombocytopenia may be related to thiamine deficiency.
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10.
Development of Wernicke encephalopathy in a terminally ill cancer patient consuming an adequate diet: a case report and review of the literature.
Yae, S, Okuno, S, Onishi, H, Kawanishi, C
Palliative & supportive care. 2005;(4):333-5
Abstract
Malignancy-associated primary thiamine deficiency has been documented in several experimental tumors, clinical case reports, and in patients with fast growing malignancies. We report a terminally ill cancer patient who developed delirium. Close examination of the patient demonstrated that delirium was caused by thiamine deficiency, although she had been consuming an average of 990 cal/day for the past 3 weeks. Malabsorption or consumption by the tumor was considered the mechanism of thiamine deficiency. Early recognition and subsequent treatment resulted in successful palliation of delirium. In terminally ill cancer patients, clinicians must remain aware of the possibility of Wernicke's encephalopathy, when the patients develop unexplained delirium, even if the patient has been consuming adequate amounts of food. Early intervention may correct the symptoms and prevent irreversible brain damage, and the quality of life for the patient may improve.