A case of lafora disease diagnosed by axillary skin biopsy

Kimiloglu, Elife; Akbas, Pelin; Ore, O. E.; Turan, Çağla

doi:10.5146/tjpath.2021.01522

Cited by 1 publication

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“…Currently, there is no efficacious treatment that controls the seizures and improves the cognitive decline in this disease [ 11 ]. Antiepileptic drugs (AEDs) are partially effective in the treatment of myoclonus and seizures but do not have a major influence on the progression of cognitive and behavioral symptoms [ 12 , 13 ].…”

Section: Discussionmentioning

confidence: 99%

Lafora disease: a case report

et al. 2022

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Background Lafora disease is a rare genetic disorder involving glycogen metabolism disorder. It is inherited by autosomal recessive pattern presenting as a progressive myoclonus epilepsy and neurologic deterioration beginning in adolescence. It is characterized by Lafora bodies in tissues such as brain, skin, muscle, and liver. Case presentation We report a rare case of Lafora disease in a 16-year-old Albanian girl who presented at a tertiary health care center with generalized tonic–clonic seizures, eyelid twitches, hallucinations, headache, and cognitive dysfunction. She was initially treated for generalized epilepsy and received an antiepileptic drug. However, owing to resistance of seizures to this antiepileptic drug, a second drug was introduced. However, seizures continued despite compliance with therapy, and general neurological status began to deteriorate. The child began to have hallucinations and decline of cognitive function. She developed dysarthria and unsteady gait. When admitted to the hospital, blood tests and imaging examinations were planned. The blood tests were unremarkable. There was no relevant family history and no consanguinity. Electroencephalography showed multifocal discharges in both hemispheres, and brain magnetic resonance imaging revealed no abnormality. Axillary skin biopsy revealed inclusion bodies in apocrine glands. Consequently, the child was referred to an advanced center for genetic testing, which also confirmed diagnosis of Lafora disease with a positive mutation on NHLRC1 gene. Conclusions Even though rare as a condition, Lafora disease should be considered on differential diagnosis in progressive and drug-refractory epilepsy in adolescents, especially when followed by cognitive decline.

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Section: Discussionmentioning

confidence: 99%