Dados do Trabalho

Título

MICROCEPHALY, EPILEPSY, SLEEP DISORDER AND MOVEMENT DISORDER IN THE HETEROZYGOTE VARIANT IN THE NCAPH GENE: CASE REPORT

Apresentação do caso

Patient M.C.R.Z.N, female, two years old, firstborn, medical history of maternal infection, caused by Covid-19, on the tenth gestational week. The patient had been born at 36 weeks with microcephaly and throughout the neonatal screening infectious causes of microcephaly were discarded. The patient evolved with spastic cerebral palsy, neurodevelopment disorder, epilepsy and a movement disorder.
Due to the proton magnetic resonance spectroscopy it was observed microcephaly, without anomalous calcification, severe atrophy of the corpus callosum,existing septum pellucidum, discreet ventriculomegaly classified as atrophic, bilateral incomplete hippocampal inversion, mild cortical atrophy, mild and severe decrease of the volume of deep white matter. And the proton MR spectroscopy indicates the presence of an anomalous peak of lactate in the cerebral parenchyma and a reduction of the peak of Naa.
It developed with epileptic spasms, which were treated with vigabatrin. The scenario was associated with a movement disorder exhibiting dystonia crises and persistent sleep disorder. Dystonia manifested a partial recovery with the administration of baclofen, after being exchanged for gabapentin, with a positive response. To the sleep disorder it was administered periciazine, levomepromazine, melatonin and amitriptyline and cannabidiol, however the insomnia still persists.
In regard to epilepsy, its spasms were controlled with vigabatrin and in its development there were focus crises, which were controlled with oxcarbazepine, with great irritability as a result of the previous administration of levetiracetam.
Along the investigation it was proven through the sequencing of the complete exome a variant in heterozygosis in the NCAPH gene, classified as a variant of uncertain meaning.

Discussão

The heterogeneous variant found is located in the NCAPH gene, in the chromosome region 2q112. This gene codifies proteins which take part in the stages of the cell cycle, resulting in a troubled line of the cleavage plan of the neural progenitors. Pathogenic variants in this gene are associated with primary microcephaly classified as type 23, autosomal recessive.

Comentários finais

The case report is important due to the lack of literature about this genetic disorder, distinguishing this as the first Brazilian case which was diagnosed and reported.

Referências (se houver)

Martin et al. Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis. Published by Cold Spring Harbor Laboratory Press.2016

Palavras Chave

microcephaly, NCAPH gene, neurodevelopment, epilepsy

Fonte de Fomento (se houver)

Declaração de conflito de interesses de TODOS os autores

Declare that there is no conflict of interest on the part of the authors.

Área

Neurogenética