Neurological findings in a patient with mosaic chromosome 8 trisomy
Context: Mosaic chromosome 8 trisomy is a rare genetic disease that can develop with neurological abnormalities. Case report: A male patient had a deficit in weight gain since his first month of life, in addition to delayed speech and neuropsychomotor. At 2 years old, the family noticed that he did not see well, and then began an ophthalmological investigation that resulted in the diagnosis of bilateral congenital cataract. Moreover, it was observed that the child had microcephaly, epicanthus, and strabismus converging to the right. Abdominal ultrasound showed hepatosplenomegaly and asymmetric kidneys. Computed tomography scan of the skull was normal. Chest radiography showed an increase in cardiac volume. Bone scintigraphy revealed heterogeneous uptake of the tracer radius in the projection of the femoral diaphyses, in addition to bilateral distal femoral hypertension, with central hypoactivity being more evident on the left. Blood karyotype exhibited a mosaic chromosome 8 trisomy (mos 47, XY, + 8 [10] / 46, XY [12]). His first medullogram had been normal; however, the new test showed myelodysplasia. Conclusions: Mosaic chromosome 8 trisomy is a chromosomal abnormality characterized by quite varied clinical manifestations. Neurological changes may be present, among which are seizures. There is also a description of agenesis of the corpus callosum. In our case, speech and neuropsychomotor delay was noteworthy.