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Lafora disease: a case report.

Naim Zeka^1,2, Leonore Zogaj^3,4, Abdurrahim Gerguri^1,2

¹Department of Neurology, Pediatric Clinic, University Clinical Center of Kosovo, Prishtina, 10000, Kosovo.

Journal of Medical Case Reports

|October 3, 2022

Summary

Lafora disease, a rare genetic glycogen metabolism disorder, presents as progressive, drug-refractory epilepsy and neurological decline in adolescents. Early consideration in differential diagnosis is crucial for timely intervention.

Keywords:

Epilepsy Inclusion bodies Lafora disease

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Area of Science:

Neurology
Genetics
Metabolic Disorders

Background:

Lafora disease is a rare, autosomal recessive genetic disorder of glycogen metabolism.
It manifests as progressive myoclonus epilepsy and neurological deterioration in adolescence.
Characterized by Lafora bodies in various tissues, including the brain, skin, muscle, and liver.

Observation:

A 16-year-old Albanian girl presented with drug-refractory generalized tonic-clonic seizures, cognitive decline, and hallucinations.
Initial epilepsy treatment was ineffective, leading to neurological deterioration, dysarthria, and unsteady gait.
Brain MRI was normal, but axillary skin biopsy revealed characteristic inclusion bodies.

Findings:

Genetic testing confirmed Lafora disease with a mutation in the NHLRC1 gene.
The patient's presentation highlighted the diagnostic challenges of this rare condition.
Skin biopsy proved instrumental in identifying Lafora bodies, aiding diagnosis.

Implications:

Lafora disease must be considered in the differential diagnosis of adolescent-onset progressive, drug-refractory epilepsy.
Cognitive decline accompanying epilepsy in adolescents warrants thorough investigation for rare metabolic disorders.
Timely diagnosis through genetic testing and tissue biopsy is essential for managing Lafora disease.