Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Wernicke encephalopathy and Korsakoff psychosis are two facets of the same disease with well-determined cerebral lesions caused by thiamine deficiency. The disease occurs mainly in alcoholics, but other conditions (malabsorption or severe malnutrition) also predispose to the risk of Wernicke-Korsakoff syndrome. The incidence in Denmark is unknown. In the period 1.1.1979-31.12.1988, 24 patients (18 men and six women) were discharged from Rigshospitalet with the diagnosis Wernicke encephalopathy or Korsakoff psychosis. This represents about 0.05% of all admissions in the period. Eighteen out of the 24 cases (75%) were admitted in the past three years (1986-88). The mean age was 55 years. Twenty patients admitted alcohol abuse. The presenting symptoms and the patients' complaints showed great variety and were often related to other alcoholic complications, which could mask the disease. The classic symptom combination: eye movement abnormalities- ataxia and disorders of consciousness were found in seven patients (29%). Sixteen patients had disorders of consciousness or orientation. All the patients were treated with thiamine. The eye-movement disorder has recovered in eight out of ten known cases (80%), nystagmus--in six out of seven cases (86%) while ataxia, disorders of orientation and confabulation recovered in about 50% of cases. The average duration of hospitalisation was 50 days. Altogether nine patients died during the observation period. The condition is most probably underdiagnosed and the traditional diagnostic criteria are considered too rigid. The diagnosis should be considered in alcoholics who present even only one of the classical symptoms and in patients with alcohol dementia. Thiamine should be given on wide indications.
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PMID:[Wernicke-Korsakoff syndrome at the Rikshospitalet in 1979-1988. A retrospective study]. 192 15

The disease is named after George H. Whipple who, in 1907, was the first to describe an intestinal "lipodystrophy". Although Whipple's disease is generally recognized as a multisystem chronic granulomatous disease, primarily involving the digestive system, it can also appear as a primary neurological disorder in rare cases. Most often it is manifested with loss of weight, diarrhea, malabsorption, abdominal pain, lymphadenopathy, cardiopathy, hyperpigmentation and hypotension. The presence of periodic acid-Schiff (PAS)-positive macrophages in biopsy specimens (not only jejunal) and demonstration of "Whipple's bacilli" visible by electron microscopy, are diagnostic signs of active Whipple's disease. Whipple's disease confined to the CNS is rare. It is rarely found in the differential diagnosis of patients with progressive neurological deterioration. The most common neurological picture includes progressive dementia, external ophalmoplegia, myoclonus, seizures, ataxia, hypothalamic dysfunction (sleep disorders, hyperphagia, polydipsia) and meningitis. Oculofacial-skeletal myorhythmia as a movement disorder, associated with Whipple's disease, is reported. Fulminant course of cerebral Whipple's disease is unusual and unfavourable. The confusing and nonspecific clinical appearance is typical for primary CNS involvement. It has recently been suggested that CNS involvement occurs in all cases, although only 10-20% of patients may show it. The CNS is the most common site of disease relapse. The CT scans and MRI of the brain are often normal, but may show cortical/subcortical atrophy, hydrocephalus, focal or intracerebral mass lesions. The cerebrospinal fluid can sometimes contain PAS-positive macrophages. Brain biopsy is suggested as a diagnostic method in cases of high suspicion of CNS Whipple's disease. However, the lesions are frequently inaccessible and false negative. Without extended antibiotic therapy, the course of Whipple's disease is lethal. Now, the prognosis is good, although the optimal antimicrobial regimen is not clearly established. Initial parenteral therapy (tetracycline, penicilline, streptomycine, chloramphenicol, ampicilline) and peroral long-term treatment with trimetoprime-sulphametoxasole, are recommended. As CNS relapse of Whipple's disease may occur after several years, long-term treatment should include antibiotics that are able to cross the blood-brain barrier. The CNS relapse, in contrast to the systemic ones, is resistant to the treatment. Appropriate therapy instituted earlier in the course of the disease is associated with a better neurological outcome. Early recognition can be critical in Whipple's disease because of irreversible neurological sequelae seen later in the course of this potentially treatable condition. In cases with high clinical suspicion in which Whipple's disease cannot be diagnosed with procedures such as jejunal biopsy, antibiotic therapy is recommended. Recovery of an established neurological deficit may rarely occur. Longterm follow-up studies would help to identify the optimal antibiotic regimen and duration of treatment.
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PMID:[Neurologic disorders in Whipple's disease]. 910 28

A remarkable, intermittent sudden-onset vigilance and movement disorder in an exclusively breast-fed infant is reported, which was caused by cobalamin depletion due to maternal vitamin B12 malabsorption. The lack of cobalamin caused a severe encephalopathy in the infant, whose brain displayed a striking loss of volume and a delay of myelination. Proton magnetic resonance spectroscopy revealed an accumulation of lactate in the gray and white matter of the brain and a sustained depletion of choline-containing compounds in the white matter, reflecting a reversible disturbance of oxidative energy metabolism in brain cells and a long-lasting hypomyelination disorder. The clinical picture in conjunction with MRI and spectroscopic data of this case study yields more insight into the functions of cobalamin in the cerebral metabolism.
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PMID:Infantile cobalamin deficiency with cerebral lactate accumulation and sustained choline depletion. 1459 32

Neuroacanthocytosis (NA) syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder. The core NA syndromes include autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome which have a Huntington's disease-like phenotype consisting of a choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy. In addition, cardiomyopathy may occur in McLeod syndrome. Acanthocytes are also found in a proportion of patients with autosomal dominant Huntington's disease-like 2, autosomal recessive pantothenate kinase-associated neurodegeneration and several inherited disorders of lipoprotein metabolism, namely abetalipoproteinemia (Bassen-Kornzweig syndrome) and hypobetalipoproteinemia leading to vitamin E malabsorption. The latter disorders are characterized by a peripheral neuropathy and sensory ataxia due to dorsal column degeneration, but movement disorders and cognitive impairment are not present. NA syndromes are caused by disease-specific genetic mutations. The mechanism by which these mutations cause neurodegeneration is not known. The association of the acanthocytic membrane abnormality with selective degeneration of the basal ganglia, however, suggests a common pathogenetic pathway. Laboratory tests include blood smears to detect acanthocytosis and determination of serum creatine kinase. Cerebral magnetic resonance imaging may demonstrate striatal atrophy. Kell and Kx blood group antigens are reduced or absent in McLeod syndrome. Western blot for chorein demonstrates absence of this protein in red blood cells of chorea-acanthocytosis patients. Specific genetic testing is possible in all NA syndromes. Differential diagnoses include Huntington disease and other causes of progressive hyperkinetic movement disorders. There are no curative therapies for NA syndromes. Regular cardiologic studies and avoidance of transfusion complications are mandatory in McLeod syndrome. The hyperkinetic movement disorder may be treated as in Huntington disease. Other symptoms including psychiatric manifestations should be managed in a symptom-oriented manner. NA syndromes have a relentlessly progressive course usually over two to three decades.
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PMID:Neuroacanthocytosis syndromes. 2202 13

A 42-year-old Japanese man with a history of small intestine resection and familial Mediterranean fever was referred to our hospital for a second opinion on parkinsonism. At the age of 35, the patient attended a hospital due to impaired left-hand movement and resting tremor. He was previously diagnosed with multiple system atrophy based on the lack of effectiveness of levodopa treatment. With suspicion of malabsorption due to his history of ileostomy, a levodopa challenge test with levodopa intravenous infusion was conducted, and revealed a 65% improvement in Movement Disorder Society-sponsored revision of the Unified Parkinson's Disease Rating Scale part III. Therefore, diagnosis of Parkinson's disease was made and a transdermal rotigotine patch was selected as a treatment. This treatment dose-dependently improved the patient's symptoms. The transdermal drug delivery should be considered when patients show dose failure due to malabsorption.
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PMID:Transdermal rotigotine patch in Parkinson's disease with a history of intestinal operation. 2990 86