Dados do Trabalho

Título

Mutiple Unusual Conditions Associated with Cerebral Palsy in a Preterm was born in Bahia

RESUMO

A 3-year-old male was diagnosed with epileptic encephalopathy, cerebral palsy, autism, Autosomal Recessive Deafness 77 and identification of genetic variants (CAXNA1C, FKTN, SLC19A3), with delayed neuropsychomotor development. According to the mother's report, during pregnancy, she had constant symptoms of severe headache (10/10), agitation, failure to maintain sleep, a seizure episode that was treated with carbamazepine in the second trimester, preeclampsia, hematemesis and gestational diabetes. In the prenatal exams, the patient was, in most cases, without intrauterine movements and at other times with heart arrhythmia. Therefore, an emergency caesarian section was performed at 34 weeks in the state of Bahia. The patient was unconscious and cyanotic, required orotracheal intubation and an exchange transfusion, was diagnosed with epilepsy in the first days of the ICU, the transfontanellar ultrasound examination identified grade 3 of peri-intraventricular hemorrhage, in addition to early neonatal sepsis. After his condition improved, he became jaundiced and was treated with phototherapy. At 7 months, the first case of coma, when the mother noticed a cyanotic appearance, leading to the child's second hospitalization. On return to the ICU, with oxygen saturation of 60%, Glasgow exam of 4, magnetic resonance imaging of the skull was performed and results were observed with cerebral atrophy and increase in the interpeduncular cistern. At two years for age, he had 3 episodes of cardiorespiratory arrest. The electrocardiogram performed for investigation showed right atrial and biventricular overload. One year later, he was hospitalized due to the presence of urine calculus and severe UTI, grade 3 phlebitis in the lower limb, pericardial effusion, constipation and convulsion, with the latter having been treated with diazepam and phenytoin. Holter confirmed ectopic atrial rhythm. Currently, on an outpatient basis, he is stable, using topiramate 50 mg, phenobarbital drops, risperidone 1 mg, clobazam 10 mg, levetiracetam 100 mg/ml, pericyazine 1 mg/drop and biotin 10 mg/ml, all via gastrostomy tube. This case portrays the consequences of common underlying genetic predispositions and deleterious events in the prenatal and neonatal periods in a patient with cerebral palsy, which is already a condition associated with an increased risk for the occurrence of other medical comorbidities that interfere with the quality of life of the patient and caregiving family.