MAST1 variant causes mega-corpus-callosum syndrome with cortical malformations but without cerebellar hypoplasia.

We report the case of a Caucasian Spanish origin female who showed severe psychomotor developmental delay, hypotonia, strabismus, epilepsy, short stature, and poor verbal language development. Brain magnetic resonance imaging scans showed thickened corpus callosum, cortical malformations, and dilated and abnormal configuration of the lateral ventricles without hydrocephalus. Whole-exome sequence uncovered a de novo variant in the microtubule associated serine/threonine kinase 1 gene (MAST1; NM_014975.3:c.1565G>A:p.(Gly522Glu)) that encodes for the MAST1. Only 12 patients have been identified worldwide with 10 different variants in this gene: six patients with mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations; two patients with microcephaly and cerebellar hypoplasia; two patients with autism, one patient with diplegia, and one patient with microcephaly and dysmorphism. Our patient shows a new phenotypic subtype defined by mega-corpus-callosum syndrome with cortical malformations without cerebellar hypoplasia. In conclusion, our data expand the phenotypic spectrum associated to MAST1 gene variants.

Posterior reversible encephalopathy syndrome (PRES): a rare condition after resection of posterior fossa tumors: two new cases and review of the literature.

INTRODUCTION: In 1996, Hinchey and colleagues coined the term "Posterior reversible encephalopathy syndrome" (PRES) to describe a condition seen in patients with acute neurological symptoms and reversible subcortical vasogenic edema predominantly involving parieto-occipital areas demonstrated in brain MRI. The occurrence of this phenomenon after surgical resection of CNS tumors is typically linked to pediatric cases. MATERIAL AND METHODS: Two new cases of PRES after posterior fossa surgery are reported. A thorough review of the literature is carried out with the purpose of updating and summarizing the main features regarding PRES in similar cases. Seven cases of PRES after resection of a posterior fossa tumor have been hitherto reported (4 patients were <20 years old). There is another pediatric case described after a ventriculoperitoneal shunting procedure in a patient with fourth ventricle ependymoma. Two resected tumors were ependymomas, 2 hemangiopericytomas in one patient, 1 pilocyticastrocytoma, 1 vestibular schwannoma, and 1 of the reported cases did not describe the final pathology diagnosis. CASE REPORTS: We present 2 new cases of PRES after surgical resection of a posterior fossa tumor (medulloblastoma in case 1 and ependymoma in case 2) in pediatric patients. Case 1 developed delayed seizures and altered mental status(10 days after surgical resection) after receiving treatment with bromocriptine for cerebellar mutism. Case 2 presented with generalized seizures and altered mental status within the first 48 postoperative hours followed by right hemiparesis. Both patients fully recovered and returned to neurological baseline status. A thorough review of the literature was carried out with the purpose of updating and summarizing the main features regarding PRES in similar cases. CONCLUSIONS: We report 2 new pediatric cases of posterior reversible encephalopathy syndrome (PRES) that developed after surgical resection of a posterior fossa tumor. Appropriate management includes supportive measures, antihypertensive agents, and antiepileptic drugs, if needed. Full recovery is the most likely outcome in line with previous articles.