ENFERMEDAD DE LAFORA PDF

Enfermedad de Lafora y efecto fundador en una pequeña localidad neotropical. Rev. biol. trop [online]. , vol, n, pp. ISSN Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations. La Metformina, designada medicamento huérfano para la enfermedad de Lafora en Estados Unidos.

Author: Kagak Dak
Country: Suriname
Language: English (Spanish)
Genre: Education
Published (Last): 26 October 2008
Pages: 309
PDF File Size: 14.3 Mb
ePub File Size: 19.94 Mb
ISBN: 912-7-19299-371-7
Downloads: 62672
Price: Free* [*Free Regsitration Required]
Uploader: Meztikus

SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field.

You can change the settings or obtain more enfeermedad by clicking here. Both biopsies were compatible with Lafora disease. Blood and urine amino acid levels were normal.

Continuing navigation will be considered as acceptance of this use. Axillary skin biopsies Fig. Rev Cubana Pediatr, 73pp. Are enfefmedad a health professional able to prescribe or dispense drugs?

Brain MRI showed moderate overall cerebral and cerebellar atrophy. A novel protein tyrosine phosphatase gene is mutated in progressive mioclonus epilepsy of the Lafora type EMP2.

In conclusion, doctors should assign a suspected diagnosis of Lafora disease when a young patient in late childhood or adolescence begins experiencing myoclonias followed by ataxia and progressive cognitive decline with no evidence of structural changes in neuroimaging tests and no metabolic changes in the analytical study.

  KUTYOWSKI KRYPTOGRAFIA PDF

From a histological point of view, it is characterised by the presence of intracytoplasmic inclusion bodies in organs such as the liver, heart, and brain.

Print Send to a friend Export reference Mendeley Statistics. Longitudinal clinicoelectrophysiologic study of a case of Lafora disease proven by skin biopsy. Se continuar a navegar, consideramos ve aceita o seu uso. Rev Neurol, 29pp. This disease presents no sex-related differences and it is predominantly found in southern European countries.

La Metformina, designada medicamento huérfano para la enfermedad de Lafora en Estados Unidos

Given the lack of response to medication, doctors added phenobarbital 90 mg per day and ethosuximide mg per day to reduce generalised seizures and absence seizures, respectively. Progressive paraparesis as a presentation of osteoclastoma Hum Mol Genet, 8pp. He died of aspiration larora 8 years after disease onset.

The patient presented truncal ataxia, tremor in both hands that could be increased voluntarily, dysarthria, and bilateral dysmetria finger-to-nose test. General physical examination revealed no cutaneous stigmata phacomatosisvisceromegalies, or retinal cherry-red spots. During the following laafora years, the patient’s epilepsy progressed unfavourably with increasingly frequent seizures. Multiple Lafora bodies in myocytes.

They are characterised by different types of epileptic seizures mainly myoclonicintellectual impairment, and other clinical manifestations mainly involving the lagora. Neurological examination revealed bradypsychia and amnestic deficit for recent events.

November – December Pages SJR uses a similar algorithm as the Google page rank; it provides a quantitative and qualitative measure of the journal’s impact. Please cite this article as: The most frequent causes of PME affecting most lafoar the cases are Unverricht-Lundborg disease, Lafora disease, neuronal ceroid lipofuscinoses, sialidosis, and mitochondrial cytopathies myoclonus epilepsy with ragged red fibres, MERRF Table Macular degeneration and visual impairment except in the adult form.

  LA CALUNNIA ROSSINI PDF

Epileptic activity did not increase during stages of drowsiness. Lafora disease is clinically characterised by generalised tonic-clonic seizures, myoclonias, progressive mental decline, and pyramidal, extrapyramidal, and cerebellar signs.

At the age of 12, the patient began to suffer episodes of disorientation lasting a few seconds, which were interpreted as absence seizures. On rare occasions, electroencephalographic manifestations may appear prior to symptom onset.

Striated muscle biopsy revealed no structural changes; fibre diameters were moderately variable.

Lafora disease – Wikidata

Gradual cerebellar changes; maculopathy with cherry-red spot. There were no laofra changes in the motor system or in sensitivity. These hallucinations are typical of Lafora disease. Rev Neurol, 37pp. Myoclonias become continuous during waking hours; they are resistant to antiepileptic medication and usually associated with occipital lobe seizure.