Dados do Trabalho

Título

NEURODEVELOPMENTAL DISORDER ASSOCIATED WITH THE DOCK7 GENE

Apresentação do caso

PHAPS, male, 9 years old, being followed up at the neuropediatrics outpatient clinic for a history of seizures since 1 year and 6 months, focal epilepsy with seizures in type in the left side, eyelid myoclonus and drooling, with subsequent generalization. At seven years old, he started with behavioral changes and stereotypies. Delayed neuropsychomotor development: sustained cervical at 3 months, lalation at 1 year, articulation of first words at 3 years and 6 months, language with sentence formation only at 7 years. Past pathological history: born at term, normal delivery and without complications. Physical examination: patient with little contact, low implantation of ears and high-arched palate. Neurological examination without focal deficit, preserved reflexes, atypical gait, muscle strength grade 5, normal muscle tone, cranial nerves without alterations. Complementary exams: Cranial magnetic resonance imaging: right mesial temporal sclerosis. Video-electroencephalogram: epileptiform paroxysms with diffuse projection and hemispheric accentuation on the right, epileptiform paroxysms in the posterior regions occurring synchronously and asynchronously, predominantly on the left. CGH-ARRAY genomic comparison analysis: normal. Exome sequencing: heterozigosy mutation in the DOCK 7 gene ( chr1:62.954.634 G>GA and chr1:63.091.022 G>A). Clinical significancy: likely pathogenic mutation.

Discussão

Neurodevelopmental disorders are a group of heterogeneous disorders that predominantly encompass autism spectrum traits and cognitive impairment. The DOCK 7 gene plays a key role in neurogenesis, promoting glial cell differentiation and neuroblast migration. Abnormalities in the DOCK7 gene cause neurodevelopmental disorders and a specific type of encephalopathy with early-onset epilepsy and intellectual disability, causing varying degrees of cognitive, language, and behavioral impairments, and seizures contribute to neurodevelopmental impairment and regression. Predominant physical characteristics are described in the literature such as low ear implantation and brachycephaly

Comentários finais

COMMENTS DOCK7 gene-associated neurodevelopmental disorder is part of a large and heterogeneous group of neurodevelopmental disorders and neurogenetic diseases.

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Todos os autores declaram que não há conflito de interesse.

Área

Neurogenética