RESUMO
We report a case of pyruvate dehydrogenase E1 alpha subunit deficiency associated with a novel hemizygous PDHA1 variant presenting prenatally as multiple structural brain abnormalities in a male fetus. A healthy Finnish couple was initially referred to the Fetomaternal Medical Center because of suspected fetal choroid plexus cyst at 11 + 2 weeks of pregnancy. At 20 + 0 weeks, multiple abnormalities were observed with ultrasound including narrow thorax, slightly enlarged heart, hypoplastic cerebellum, absent cerebellar vermis and ventriculomegaly. Autopsy and genetic analyses were performed after the termination of pregnancy. The findings of macroscopic examination included cleft palate, abnormally overlapping position of fingers and toes and dysmorphic facial features. Neuropathological examination confirmed the absence of corpus callosum, cerebellar hypoplasia and ventriculomegaly. Nodular neuronal heterotopia was also observed. Trio exome sequencing revealed a novel hemizygous de novo variant c.1144C>T p.(Gln382*) in the PDHA1 gene, classified as likely pathogenic. We suggest that inherited metabolic disorders should be kept in mind as differential diagnoses in fetuses with structural brain abnormalities.
Assuntos
Anormalidades Múltiplas , Hidrocefalia , Doença da Deficiência do Complexo de Piruvato Desidrogenase , Gravidez , Feminino , Humanos , Masculino , Doença da Deficiência do Complexo de Piruvato Desidrogenase/genética , Doença da Deficiência do Complexo de Piruvato Desidrogenase/patologia , Anormalidades Múltiplas/diagnóstico por imagem , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Cerebelo , Feto/diagnóstico por imagem , Feto/patologiaRESUMO
PURPOSE: This study was designed to evaluate the effect of preoperative pregabalin on intraoperative neurophysiological monitoring in adolescents undergoing surgery for spinal deformities. METHODS: Thirty-one adolescents undergoing posterior spinal fusion were randomized to receive preoperatively either pregabalin 2 mg/kg twice daily or placebo. The ability to make reliable intraoperative neurophysiological measurements, transcranial motor (MEPs) and sensory evoked potentials (SSEP) was evaluated. RESULTS: Two patients (pregabalin group) did not fulfil the inclusion criteria and one patient's (placebo group) spinal monitoring was technically incomplete and these were excluded from the final data. In the rest, spinal cord monitoring was successful. Anaesthesia prolonged the latency of MEPs and increased the threshold current of MEP. The current required to elicit MEPs did not differ between the study groups. There were no statistically significant differences between the study groups regarding the latency of bilateral SSEP (N32 and P37) and MEP latencies at any time point. CONCLUSIONS: Preoperative pregabalin does not interfere spinal cord monitoring in adolescents undergoing posterior spinal fusion. LEVEL OF EVIDENCE: I.