Lafora disease: Case report of a 13 years old patient with cognitive decline, ataxia and seizures

Objective: Lafora disease is a rare autosomal recessive neurodegenerative disorder. It is the common cause of progressive myoclonic epilepsy and characterized by the presence of intracellular inclusion bodies, known as Lafora bodies. We described a case of Lafora disease that presented with cognitive dysfunction, ataxia and seizures. Case presentation: A 13 years old girl admitted to our child neurology clinic with cognitive decline. She had these symptoms for 5 years and worsened progressively. In the last few months, she started to complain of difficulty in walking. She walked unsteadily and fell frequently. On clinical examination, she was disoriented and had ataxic gait. Her routine hematologic and biochemistry tests were unremarkable. Cranial and spinal magnetic resonance imaging (MRI) were normal. In the follow-up, she had a bilateral tonic clonic seizure. When she was questioned in detail, we learned that she had myoclonic jerks for one month. On electroencephalogram (EEG) the background activity was diffuse slow and there were irregular generalized spikes over both hemispheres. Axillary skin biopsy revealed intra-cytoplasmic inclusion bodies, positive by periodic acid-Schiff (PAS) at 40× magnification. Levetiracetam treatment was started and valproic acid and clonazepam were added respectively. A slight decrease in the frequency of seizures occurred. Conclusion: It is important to suspect Lafora disease in patients with cognitive decline and ataxia, as seizures may occur lately after psychiatric symptoms. Early diagnosis of disease allows early treatment and counseling family for future pregnancies.