Focal cortical dysplasia type 1b as a cause of severe epilepsy with multiple independent spike foci.

To investigate the clinical picture, the neurophysiological pattern, and neuropathological features of a young woman with severe drug-resistant epilepsy of unknown cause. We used the patient's clinical records from the age of 2 to 20years including neurophysiological patterns recorded via both scalp and cortex electrodes and results of studies conducted on the brain neuropathological specimen. The patient, with severe mental/psychomotor retardation, suffered from severe epilepsy from an early age, characterized by daily seizures of multiple types (atypical absences, tonic, and complex partial seizures), high frequency, and intractability. The neurophysiological pattern indicated multiple independent spike foci (SE-MISF). When she was 16, a vagal nerve stimulator was implanted without success. Neither neuroimaging (brain MRI and ictal SPECT) nor surface EEGs identified unique loci of seizure onset, establishing her as a candidate for a complete callosotomy. When the patient was 19, before the callosotomy, invasive EEG (i.e., electrocorticography) using just a few electrodes in different lobes showed the presence of a distinctive pattern. The surgical specimen, taken very close to one of the activity sites, showed architectural abnormalities and neurons that were giant or immature but not dysmorphic, indicative of focal cortical dysplasia (FCD) type 1b. Twelve months after the callosotomy, according to the Engel score, the patient exhibited a large improvement in quality of life, without permanent complications from the interhemispheric disconnection. (1) Hidden FCD type 1b could represent a missing diagnosis in patients with SE-MISF in the absence of other causes for their seizures. (2) Complete callosotomy can be efficacious in patients with SE-MISF with hidden FCD type 1b.

Loss of heterozygosity and p53 polymorphism Pro72Arg in a young patient with medulloblastoma.

Differently from conventional primary neuroectodermal tumors (PNETs), molecular features of undifferentiated lesions have been poorly studied. Medulloblastoma and PNET neoplasms showed a high incidence of loss of heterozygosity (LOH) on chromosome 17p13, in the region of tumor suppressor gene p53. Recent studies have shown a significant correlation between the presence of p53 Arg72Pro polymorphism and several undifferentiated carcinomas. We performed molecular analysis in an anaplastic tumor of posterior fossa in a patient with a constitutional maternal translocation [46,XX,t(5;19)] and a history of headache, nausea and vomiting. We identified the presence of LOH at 17p13 and Pro72Arg polymorphism in tumor DNA. These molecular findings helped us better characterize this undifferentiated tumor and led to a more aggressive therapy.

Maximizing results in craniofacial surgery with bioresorbable fixation devices.

The resorbable plating system allows the infant's skull to grow once the system is resorbed, thus not inhibiting the necessary developmental growth seen with the titanium system. Despite marked improvements in long-term outcomes, there are still technical points that can be followed to maximize outcome while reducing and possibly eliminating minor complications such as plate palpability and visibility through the skin as well as skin breakdown over the plate. A retrospective electronic chart review was performed on the pediatric patient population who underwent craniofacial surgery with the use of resorbable fixation devices by the senior author (LG). Fifty-two patients underwent surgical correction for craniosynostosis with resorbable material (Craniosorb, Lactosorb, or Biosorb PDX). This series included patients with brachycephaly (17), anterior plagiocephaly (unilateral coronal synostosis; 16), trigonocephaly (11), multisuture craniosynostosis (7), and Cohen's craniotelencephalic dysplasia (1). The mean age at the time of the operation was 8 months and the mean follow up was 17 months. Eight patients experienced complications related to the resorbable material. Seven of the eight had complete resolution of symptoms after conservative treatment and one patient had complete resolution of the skin infection after plate removal. The purpose of this study was to evaluate the risks and complications with the use of resorbable material to establish guidelines for avoidance of surgical pitfalls that lead to increased risk of morbidity with the use of this material, particularly as it relates to plate visibility under the skin, plate palpability, skin breakdown, and skin infections over the plating system.

Dysphagia and dyspnea due to an anterior cervical osteophyte.

Hypertrophic anterior cervical osteophytes have been reported as a cause of dysphagia, with about 100 cases described in the literature; on the other hand, chronic or acute dyspnea due to edema of the laryngeal inlet or bilateral vocal cord adduction-fixation is rare. We report a 57-year-old patient with a 2-year history of dysphagia and episodic dyspnea, who suffered sudden, severe respiratory distress necessitating emergency tracheotomy. A voluminous anterior cervical osteophyte at the C5 level was diagnosed by computed tomography (CT) and barium swallow test and removed by an anterior approach to the cervical spine, with clinical remission. The incidence, pathogenetic mechanisms, radiological diagnosis, and surgical indications of anterior cervical osteophytes associated with dysphagia and dyspnea are discussed. We advise examining cervical spine patients with dysphagia and/or dyspnea by radiography and CT when other investigations are not conclusive for a digestive or respiratory pathology.