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Case Reports
. 2022 Oct 3;16(1):360.
doi: 10.1186/s13256-022-03537-x.

Lafora disease: a case report

Naim Zeka  1   2 , Leonore Zogaj  3   4 , Abdurrahim Gerguri  1   2 , Ramush Bejiqi  5 , Ragip Ratkoceri  5   2 , Arlinda Maloku  5 , Aferdita Mustafa  5   2 , Labinot Shahini  6 , Jeton Maxharaj  7
Affiliations
Case Reports

Lafora disease: a case report

Naim Zeka et al. J Med Case Rep. .

Abstract

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.

Keywords: Epilepsy; Inclusion bodies; Lafora disease.

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Conflict of interest statement

There are no competing interests to disclose.

Figures

Fig. 1
Fig. 1
Initial Electroencephalogram (EEG) showing diffuse low voltage in both hemispheres
Fig. 2
Fig. 2
Follow-up Electroencephalogram (EEG) showing severe epileptic paroxysm activity in both hemispheres. Next, brain magnetic resonance imaging was planned (Fig. 3)
Fig. 3
Fig. 3
Brain magnetic resonance imaging showing normal findings
Fig. 4
Fig. 4
Axillary skin biopsy indicating myoepithelial cells containing polyglucosal (Lafora bodies) as well as chronic inflammatory infiltrates. The results of the biopsy reveal Periodic Acid-Schiff (PAS)+ polyglycan inclusions (Lafora bodies)
Fig. 5
Fig. 5
Axillary skin biopsy showing myoepithelial cells that contain polyglucosal (Lafora bodies) as well as chronic inflammatory infiltrates. The results of the biopsy reveal Periodic Acid-Schiff (PAS)+ polyglycan inclusions (Lafora bodies)
See this image and copyright information in PMC

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