*Correspondence: emersonfariab@gmail.com.
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.
