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Lafora disease: a progressive myoclonus epilepsy
E J Elliott1, I C Talbot, I F Pye
1Department of Child Health, University of Leicester, United Kingdom.
Insights
Lafora disease, a rare metabolic disorder, causes progressive myoclonus epilepsy and intellectual decline due to polyglucosan accumulation. Skin biopsy offers a reliable, less invasive diagnostic method for this condition.
Area of Science:
- Neurology
- Metabolic Disorders
- Genetics
Background:
- Lafora disease is a rare, inherited metabolic disorder characterized by polyglucosan accumulation in various tissues.
- It leads to severe neurological symptoms, including progressive myoclonus epilepsy and intellectual deterioration.
Observation:
- Four children with Lafora disease presented with epilepsy and cognitive decline.
- Diagnostic confirmation involved liver biopsy (PAS positive, diastase resistant, colloidal iron staining inclusions) in two cases.
- Cerebellar biopsy confirmed the diagnosis in one child, with retrospective analysis revealing abnormal liver biopsy findings.
- Skin biopsy successfully diagnosed the condition in a fourth child, despite prolonged suggestive clinical and EEG findings.
Findings:
- The study highlights the diagnostic utility of liver and skin biopsies in Lafora disease.
- Skin biopsy is identified as a reliable and less invasive method for histological diagnosis.
- Autosomal recessive inheritance, progressive nature, and poor prognosis are characteristic of Lafora disease.
Implications:
- Increased pediatrician awareness of Lafora disease is crucial for timely diagnosis.
- Early histological diagnosis enables prognostic and genetic counseling.
- Prompt diagnosis facilitates optimal management and treatment strategies for affected individuals.
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.