Gene/Protein Disease Symptom Drug Enzyme Compound
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Wernicke encephalopathy is a disorder caused by a deficiency of thiamine which is a cofactor of several metabolic enzymes. The symptoms include mental confusion, ataxia, and ocular signs in adults, infants, and children. Patients often have somnolence and weakness combined with ophthalmoplegia. Alcoholics are the best known risk group; however, Wernicke encephalopathy occurs in poorly nourished patients of all ages. We present 2 children with malignant disease in whom Wernicke encephalopathy--an underdiagnosed and potentially fatal, but preventable and treatable disease--was diagnosed postmortem.
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PMID:Wernicke encephalopathy--a preventable cause of death: report of 2 children with malignant disease. 267 84

Gastric partitioning has been proposed as an alternative to jejunoileal bypass for the control of morbid obesity because of the relative ease of performance and the lack of metabolic complications. From our series of 250 patients who underwent gastric partitioning, one of them developed a neurologic syndrome consistent with Wernicke's disease. The clinical findings were characterized by ataxia, confusion, impaired extra-ocular movements with diplopia, and weakness. A second patient with a similar condition was referred to us for evaluation and treatment. Pretreatment thiamine levels were normal in one case and revealed thiamine deficiency in the second. The study group of 15 patients had thiamine and red cell transketolase levels determined before, 6 wk, and 1 yr after gastric partitioning. A significant drop in values was seen at 6 wk postoperatively. Gastric partitioning is a safe and effective alternative to jejunoileal bypass in the control of morbid obesity. However, severe permanent neurologic deficits, probably related to thiamine deficiency, may occur.
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PMID:Neurologic deficit following gastric partitioning: possible role of thiamine. 623 85

This review summarizes those neurological diseases which are accompanied by a drooping of the upper lid, due to weakness of the m. levator palpebrae or m. tarsalis respectively. After connatal ptosis with or without involvement of other bulbar muscles the different types of muscular dystrophies are mentioned. Myositis, disturbances of potassium regulation and myasthenia gravis are other causes of ptosis. Diseases involving the oculomotor nerve (aneurysm, upper herniation, cavernous sinus thrombosis, orbital cavity processes, superior orbital fissure syndrome) may lead to associated ptosis. Metabolic disturbances, such as diabetes mellitus, Wernicke's encephalopathy and botulism may be accompanied by ptosis. Infectious diseases such as polyneuritis, meningitis or encephalitis can lead to ptosis. Sympatholytic ptosis is due to diseases of the central or peripheral course of the sympathetic nerve from the diencephalon via the cervical medulla, the neck, internal carotid artery to the superior orbital fissure. This type of ptosis is usually accompanied by miosis and often by sweating loss on the same side.
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PMID:[Ptosis in the differential diagnosis of neurologic diseases]. 640 79

A male alcoholic who presented with hypothermia and confusion was diagnosed as suffering from Wernicke's encephalopathy. He showed in addition signs of bulbar damage with cranial nerve signs, weakness of all limbs and absent oculo-vestibular responses. His course was complicated by recurrent episodes of aspiration pneumonia with death resulting from this cause. Neuropathological findings included typical features of Wernicke's encephalopathy as well as central pontine myelinolysis.
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PMID:Wernickes encephalopathy with central pontine myelinolysis presenting with hypothermia. 695 96

We describe a women of 22 years of age who had had a vertical gastroplasty (as treatment for morbid obesity). She was admitted to hospital with a 4 week history of nausea and vomiting of food. Treatment with intravenous dextrose, without vitamin supplements was started. One week later she complained of diplopia, paresthesia and weakness of the limbs. All investigations proved to be normal. A deficiency state was suspected, probably Wernicke's encephalopathy, although no alterations were seen in her mental state. We started treatment with high doses of parenteral thiamine, other vitamins and a suitable diet. The treatment was followed by complete recovery. Few neurological complications have been described in association with vertical gastroplasty. The commonest are polyneuropathies. The probable deficiency origin of these is considered. We emphasise the importance of vitamin supplements following the surgical treatment of morbid obesity to avoid the development of deficiency states. Wernicke's encephalopathy is due to thiamine deficiency. It may be associated with any type of malnutrition, not only with chronic alcoholism. The full clinical triad which is diagnostic of this condition is only present in one third of the cases. When the condition is suspected on clinical grounds treatment should be started early to avoid the occurrence of irreversible secuelae.
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PMID:[Neuropathic beriberi as a complication of surgery of morbid obesity]. 872 27

A 28-year-old man presented with a bilateral visual loss of acute onset, and was diagnosed as having optic neuropathy by an ophthalmologist. It disappeared spontaneously within 2 months. A visual loss at the left side relapsed ten months later, followed by a dysarthria, horizontal defective saccade, ataxia, and mild weakness of four extremities, which also subsided within one month only by multi-vitamin therapy. These signs recurred episodically with characteristic clinical features of dysarthria, horizontal ophthalmoplegia, defective saccade, ataxia, and weakness, during the next year. Clinical features mimicked those of various neurological disorders, especially multiple sclerosis, Wernicke encephalopathy, brainstem encephalitis, Fisher syndrome, disorders of amino acid metabolism and episodic ataxia. Tablets of bromvalerylurea were incidentally found at the bedside and bromides were detected in his sera. Drugs containing bromides are now easily available without prescription, so we should keep the intoxications of those drugs in mind in facing undiagnosed patients with various episodic neurological symptoms.
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PMID:[A case of chronic bromvalerylurea intoxication with episodic neurological manifestations such as optic neuropathy ophthalmoplegia and ataxia]. 893 4

An 18-year-old woman in her first pregnancy with hyperemesis gravidarum, presented dehydration, without hyponatremia. She was confused with profound disorientation, apathy, and drowsiness. She presented upbeating nistagmus on upward gaze and gate ataxia recognised as Wernicke's encephalopathy. Laboratory tests demonstrated hypokalemia, hypernatremia and aminotransferase elevation. The serum osmolality was 319 mOsm/kg and the water deficiency 2.73 l. The patient developed weakness in the four limbs, with hypotonicity, absence of tendon reflexes and showed bilateral Babinski signs. A T2 weighted sagittal cranial-magnetic resonance imaging revealed a high signal within mid-pons suggesting central pontine myelinolysis. In this case we highlight the absence of hyponatremia. Furthermore, the central pontine myelinolysis was probably secondary to hypokalemia, hypernatremia and hyperosmolality.
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PMID:[Central pontine myelinolysis induced by hyperemesis gravidarum]. 1041 97

We report a 48-year-old chronic alcoholic man, who developed consciousness disturbance, oculomotor paresis, and flaccid tetraplegia. His dietary habit was very poor since one month prior to the present admission and he was drinking alcoholic beverage. On admission on April 19, 1999, he showed disturbance of consciousness, tetraparesis without sensory disturbance, gaze paresis, and vertical nystagmus on downward gaze. His blood thiamine level was 12 ng/ml (normal range: 23.8-45.9). MRI demonstrated symmetric hyperintense lesions in the motor and premotor cortices bilaterally, in addition to other changes indicating Wernicke's encephalopathy. His motor weakness and oculomotor disturbance improved after treatment with intravenous thiamine. His cortical MRI also normalized. We believe that his cortical abnormality was responsible for his motor paresis and this is an unusual and unique finding for Wernicke's encephalopathy.
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PMID:[Unusual MR findings of Wernicke encephalopathy with cortical involvement]. 1121 34

Postoperative complications resulting from bariatric surgery can lead to severe vitamin-deficiency states, such as Wernicke's encephalopathy (WE). We present a 29-year-old woman with BMI 41.7 with no history of alcoholism who developed acute WE after a gastric bypass for morbid obesity. After persistent vomiting for 2 weeks postoperatively, symptoms began with headache, vertigo, diplopia, nystagmus, tingling and weakness in both upper and lower extremities, urinary incontinence, and memory loss to recent events. All investigations, including upper GI endoscopy, Gastrografin meal and even MRI, were normal. A dramatic improvement occurred in 24 hrs after starting 100 mg thiamine infusion daily. We recommend that patients undergoing bariatric surgery should be started on thiamine supplementation once oral intake begins, because this case showed that postoperative acute WE can develop before 6 weeks, unlike other reports.
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PMID:Very early onset of Wernicke's encephalopathy after gastric bypass. 1668 41

Thiamine deficiency may present four classic clinical forms: peripheral polyneuropathy, anorexia and muscular weakness (dry beriberi); high output heart failure with signs of congestion (wet beriberi); beriberi associated with shock (Shoshin beriberi) and Wernicke's encephalopathy. In this report we describe a picture that is suggestive of severe pulmonary hypertension and cor pulmonale, with jugular stasis, congestive hepatitis and generalized edema that reversed completely after the administration of thiamine.
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PMID:Thiamin deficiency as a cause of reversible cor pulmonale. 1866 Sep 37


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