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Título

REFRACTORY STRUCTURAL EPILEPSY ASSOCIATED WITH DANDY WALKER VARIANT AND DOWN SYNDROME: CASE REPORT

Apresentação do caso

Male,4 years, 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 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.

Discussão

This congenital brain malformation 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.

Comentários finais

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.

Referências (se houver)

1.Dandy-Walker malformation and variants: clinical features and associated anomalies in 28 affected children-a single retrospective study and a review of the literature. Di Nora A, Costanza G, Pizzo F, Di Mari A, Sapuppo A, Basile A, Fiumara A, Pavone P. Acta Neurol Belg. 2022 Sep 6. doi: 10.1007/s13760-022-02059-z.
2. Developmental outcomes of Down syndrome and Dandy-Walker malformation. Love K, Huddleston L, Olney P, Wrubel D, Visootsak J. J Pediatr Neurol. 2011 Jan 1;9(3):405-408. doi: 10.3233/JPN-2011-0500.
3. A rare association of Down syndrome with Dandy -Walker variant, pulmonary hypertension and childhood interstitial lung disease: A case report of a prognostic dilemma. Mohd Kori AM, Alias A, Daud M, Yahaya NA, Anuar MA. J Taibah Univ Med Sci. 2022 Jun 10;17(6):950-953. doi: 10.1016/j.jtumed.2022.05.005. eCollection 2022 Dec.
PMID: 36212578 Free PMC article.
4. Dandy-walker malformation and down syndrome association: good developmental outcome and successful endoscopic treatment of hydrocephalus. Nigri F, Cabral IF, da Silva RT, Pereira HV, Ribeiro CR. Case Rep Neurol. 2014 May 14;6(2):156-60. doi: 10.1159/000363179. eCollection 2014 May.
5. Coexistence of Dandy-Walker syndrome and Down's syndrome. Constantini S, Pomeranz S, Hoffman B, Martin O, Rappaport ZH.
Neurochirurgia (Stuttg). 1989 Mar;32(2):56-7. doi: 10.1055/s-2008-1054003.

Palavras Chave

trissomy; epilepsy; Dandy-Walker variant

Fonte de Fomento (se houver)

Nenhuma

Declaração de conflito de interesses de TODOS os autores

Nenhuma

Área

Malformações do sistema nervoso central