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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two patients with the syndrome of Ramsay Hunt (dyssynergia cerebellaris myoclonica, DCM), associated with malabsorption due to adult coeliac disease, are reported. Both presented with progressive cerebellar ataxia, action myoclonus, and epilepsy. One had gastrointestinal symptoms (recurrent diarrhea and weight loss which responded satisfactorily to a gluten-free diet), but the other did not. In both patients, jejunal biopsy revealed subtotal villous atrophy; serum folate and vitamin E level were also reduced. Neither a gluten-free diet nor vitamin supplements improved the neurological picture. However, some symptomatic relief was afforded by treatment with clonazepam, sodium valproate, carbamazepine, and piracetam. It could be argued that the association between these two disorders is coincidental. However, since we have found this combination in 2 of 14 consecutive cases with DCM, a causal relationship seems likely, although the underlying mechanism remains unknown. Patients with the Ramsay Hunt syndrome should be investigated for malabsorption, and also undergo small intestinal biopsy.
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PMID:Ramsay Hunt syndrome and coeliac disease: a new association? 847 11

A progressive pancerebellar syndrome in a 57-year-old man heralded what was subsequently diagnosed by malabsorption studies and jejunal biopsy as adult celiac disease. Postmortem examination demonstrated characteristic gastrointestinal and cerebral abnormalities associated with this enteropathy. The neuropathology underlying the ataxia, as well as the clinical features of palatal myoclonus and marked speech impairment, included marked cerebellar cortical atrophy with cell loss in dentate and olivary nuclei. Intestinal-absorption studies are indicated to evaluate patients with any neurologic illness that may be related to malabsorption.
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PMID:Adult celiac disease presenting as cerebellar syndrome. 718 24

We report four patients with a progressive myoclonic ataxic syndrome and associated coeliac disease. The onset of the neurological syndrome followed the gastrointestinal and other manifestations of coeliac disease while on a gluten-free diet, in the absence of overt features of malabsorption or nutritional deficiency. The condition progressed despite strict adherence to diet. The neurological syndrome was dominated by action and stimulus sensitive myoclonus of cortical origin with mild ataxia and infrequent seizures. Plasmapharesis and immunosuppressive treatment were tried in two patients but were not beneficial. Post-mortem examination of the brain in one case showed selective symmetrical atrophy of the cerebellar hemispheres with Purkinje cell loss and Bergmann astrocytosis, and with preservation of the cerebral hemispheres and brainstem. Coeliac disease should be considered in the differential diagnosis of all patients presenting with a progressive myoclonic ataxic syndrome.
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PMID:Progressive myoclonic ataxia associated with coeliac disease. The myoclonus is of cortical origin, but the pathology is in the cerebellum. 749 72

The association of celiac disease, epilepsy and occipital calcifications with initial clinical manifestations of epilepsy during the first two decades of life with an often progressive and variable course and clinical expression of malabsorption has recently been described. Two cases of celiac disease with occipital calcifications and a presentation with neurologic symptoms in adulthood are reported. The first case is that of a 40-year-old male who presented recurrent and alternating pure brachial monoparesis and later acute abdominal pain following which celiac sprue was diagnosed. The second case is that of a 53-year-old woman diagnosed with celiac sprue 20 years before, presenting permanent myoclonus in the lower limbs which were progressive in severity, ataxic march and generalized tonoclonic seizures. Both patients had bilateral occipital calcifications on CT and celiac disease was demonstrated on biopsy. The first case also showed marked signal alteration in the white matter on MRI. Celiac disease with cerebral calcifications presents also in adulthood with atypical clinical manifestations. Suspicion of celiac disease may be confirmed by non-invasive methods such as antigliadin and antiendomysium antibody determination. CT imaging is characteristic.
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PMID:[Celiac disease with occipital calcifications: 2 late cases]. 855 80

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

Myoclonus can be classified as physiologic, essential, epileptic, and symptomatic. Animal models of myoclonus include DDT and posthypoxic myoclonus in the rat. 5-Hydrotryptophan, clonazepam, and valproic acid suppress myoclonus induced by posthypoxia. The diagnostic evaluation of myoclonus is complex and involves an extensive work-up including basic electrolytes, glucose, renal and hepatic function tests, paraneoplastic antibodies, drug and toxicology screens, thyroid antibody and function studies, neurophysiology testing, imaging, and tests for malabsorption disorders, assays for enzyme deficiencies, tissue biopsy, copper studies, alpha-fetoprotein, cytogenetic analysis, radiosensitivity DNA synthesis, genetic testing for inherited disorders, and mitochondrial function studies. Treatment of myoclonus is targeted to the underlying disorder. If myoclonus physiology cannot be demonstrated, treatment should be aimed at the common pattern of symptoms. If the diagnosis is not known, treatment could be directed empirically at cortical myoclonus as the most common physiology. In cortical myoclonus, the most effective drugs are sodium valproic acid, clonazepam, levetiracetam, and piracetam. For cortical-subcortical myoclonus, valproic acid is the drug of choice. Here, lamotrigine can be used either alone or in combination with valproic acid. Ethosuximide, levetiracetam, or zonisamide can also be used as adjunct therapy with valproic acid. A ketogenic diet can be considered if everything else fails. Subcortical-nonsegmental myoclonus may respond to clonazepam and deep-brain stimulation. Rituximab, adrenocorticotropic hormone, high-dose dexamethasone pulse, or plasmapheresis have been reported to improve opsoclonus myoclonus syndrome. Reticular reflex myoclonus can be treated with clonazepam, diazepam and 5-hydrotryptophan. For palatal myoclonus, a variety of drugs have been used.
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PMID:Myoclonus. 2149 98