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Lafora disease: A progressive myoclonus epilepsy
- Source :
- Journal of Paediatrics and Child Health. 28:455-458
- Publication Year :
- 1992
- Publisher :
- Wiley, 1992.
-
Abstract
- Lafora disease is a rare inborn error of metabolism resulting in storage of a polyglucosan in tissues including the brain, skin and liver. Four children are described with progressive myoclonus epilepsy and intellectual deterioration in whom this diagnosis was made. In two the diagnosis was confirmed by the presence of periodic acid schiff (PAS) positive, diastase resistant, colloidal iron staining inclusion material in the liver when they were referred to a paediatric gastroenterologist with abnormal liver function tests. In one, the diagnosis was made from cerebellar biopsy, although on retrospective review the liver biopsy performed at this time was abnormal. In a fourth child, whose sibling was affected, histological diagnosis was confirmed by skin biopsy, although clinical and EEG findings had been highly suggestive for several years. The disease has autosomal recessive inheritance, is progressive and the prognosis is poor. Paediatricians should be aware of this diagnosis, which is often delayed, as early histological diagnosis allows prognostic and genetic counselling and optimal treatment. Although the diagnosis was made by liver or brain biopsy in three cases, skin biopsy offers a reliable, less invasive means of diagnosis.
- Subjects :
- Adult
Male
Pathology
medicine.medical_specialty
Adolescent
Biopsy
Epilepsies, Myoclonic
Genetic Counseling
Progressive myoclonus epilepsy
Lafora disease
Liver Function Tests
medicine
Humans
Child
Skin
medicine.diagnostic_test
business.industry
Brain biopsy
Prognosis
medicine.disease
Microscopy, Electron
Liver
Inborn error of metabolism
Liver biopsy
Pediatrics, Perinatology and Child Health
Skin biopsy
Abnormal Liver Function Test
Female
business
Subjects
Details
- ISSN :
- 14401754 and 10344810
- Volume :
- 28
- Database :
- OpenAIRE
- Journal :
- Journal of Paediatrics and Child Health
- Accession number :
- edsair.doi.dedup.....64f72a925eb754f41ddf9d4497415a66