A Case of Van der Knaap disease presenting seizure as the first symptom

A Case of Van der Knaap disease presenting seizure as the first symptom Introduction: Van der Knaap disease is diagnosed by clinical features and MRI findings. We report a case of Van der Knaap disease in infant. Case description : A 5 month-old female infant presented with seizures of simple partial motor type. Personal and family history was negative. Investigations for Inborn error of metabolism done at birth were negative. Head circumference was 41.5 cm which was about 60 percentile for age. The psychomotor development was not delayed. The neurological examination was unremarkable except mild left upper and lower limb weakness with the power of grade 3, which improved soon. Results : Blood tests including CBC, liver function test, electrolytes, lactate and pyruvate were normal. EEG showed a high amplitude delta slow waves of right parietotemporooccipital areas. Brain MRI revealed the oval cystic lesions in the right parieto-occipital white matter and thalamus. Conclusion ; This is the case of Van der Knaap disease presenting seizure as an initial manifestation and needs the follow up in terms of the development of neurological deficits and psychomotor delay.