Refractory structural epilepsy associated with dandy walker variant and down syndrome: case report

*Correspondence: [e-mail].

Abstract

Case Presentation: Male, 4-years-old non-consanguineous couple, with diagnosis of Down Syndrome, presumed during pregnancy and confirmed by karyotype. Throughout his life, he evolved with epilepsy and pneumonias with bronchospasm, in addition to hyperammonemia due to drugs. At 2 years, tics identified, lasting a few seconds of spontaneous resolution associated with neuropsychomotor regression, with gait disability and loss of axial tone. In magnetic cranial resonance, demonstrated discreet prominence of the liquoric space of the cistern infravermian, which admits differential with a small arachnoid cyst, alteration of the usual orientation of some cortical grooves in the transition temporal-cortical on the left, which are shallow, associated with a slight thickening of the regional cortex, with a malformative/dysplastic appearance, verticalized left hippocampal formation. Started treatment for epilepsy without seizure control. In conclusion, his neuroimage demonstrates the presence of a malformation temporo-occipital artery on the left, in addition to megacisterna magna and hypoplasia of cerebellar vermis, compatible with Dandy Walker variant. Currently in use of five FAC and ketogenic diet with partial control. His EEG pattern consists of focal epileptiform discharges of spike and sharp wave in multifocal projection, generalized discharges epileptiform polyspike and rapid paroxysmal activity grouped in very short bursts of up to 2 seconds. An epilepsy panel was requested.

Discussion: This congenital brain malformation is characterized by the presence of cystic malformations in the fossa posterior, associated with hypoplasia and/or agenesis of the cerebellar vermis. It is estimated that around 3% of hydrocephalus are caused by DW, with teratogenic and genetic factors responsible for such a cerebellar disorder, which characterizes a multifactorial inheritance pattern. Estroff/Imataka et al correlated various types of chromosomal abnormalities on DW, but none associated with trisomy 2. In the literature, the coexistence of Down syndrome and DW is uncommon and has been reported in rare cases. Therefore, your prognosis and impact on development has yet to be fully elucidated.

Final Comments: The great challenges are related to the control of seizures and in addition to the presence of recurrent pneumonia commonly observed in patients with trisomy due to abnormalities observed in the alveolar development and environmental factors.

Publication History

Article published online:
12 May 2025