Neurodevelopmental and esthetic results in children after surgical correction of metopic suture synostosis: a single institutional experience.

INTRODUCTION: Metopic suture synostosis leading to trigonocephaly is considered the second most frequent type of craniosynostosis. Besides esthetic results, we present 25 consecutive pediatric cases operated upon metopic suture synostosis with a focus on the child's motor, speech, and neurocognitive development. METHODS: Twenty-five children (aged 6 to 33 months; median 9.2 months) with trigonocephaly were operated upon between 2002 and 2012 with fronto-orbital advancement including frontal bone cranioplasty and fronto-orbital bandeau remodeling. Neurodevelopmental deficits were evaluated by a standardized questionnaire including gross motor function, manual coordination, speech, and cognitive function performed by independent pediatric/developmental neurologists before surgery and at 6 and 12 months of time interval postoperatively. RESULTS: Twenty-one (84 %) boys and four (16 %) girls were included in this study. Mean follow-up period was 33 ± 28 months. Outcome analysis for esthetic results showed a high degree of satisfaction by the parents and treating physicians in 23 cases (92 %). Preoperative evaluation revealed neurodevelopmental deficits in 10 children (40 %; six mild, four moderate degree). Twelve children (48 %) were proven to have a normal preoperative neuropediatric development. Mild or moderate developmental restraints were no longer apparent in 6/13, improved but still apparent in 3/13, and stable in 4/13, 6 months after cranial vault reconstruction. At 12 months of follow-up, deficits were no longer present in 9/13 and improved in 4/13. Apart from this cohort, two children were diagnosed with a syndromic form, and one child had a fetal valproate syndrome. In these three children, neurodevelopmental deficits were more pronounced. Neurocognitive progress was obvious, but was comparably slower, and major deficits were still apparent at last follow-up. All children with proven mild/moderate/severe deficits received intensive physiotherapy, logopedic, or neurobehavioral support. CONCLUSIONS: As shown in a single-center observation, surgical correction of metopic suture synostosis not only refines esthetic appearance but also might improve neurodevelopmental outcome if deficits are apparent, even in syndromic forms of the deformity under additional physiotherapy, logopedic, or neurobehavioral support.

Children with tethered cord syndrome of different etiology benefit from microsurgery-a single institution experience.

PURPOSE: The term "tethered cord syndrome" (TCS) illustrates, according to the literature, both a separate diagnosis, as well as a combination of symptoms in the context of dysraphic conditions. The common denominator is the increased tension and abnormal stretching of the spinal cord, caused by tissue attachments that limit its movement in the spinal canal. In light of the fact that no real data exists regarding the management of these patients, the purpose of this single institutional study is to underscore management strategies and discuss the results, pitfalls, and the treatment of pediatric patients with tethered cord syndrome. METHODS AND RESULTS: The clinical outcome in 20 pediatric patients was studied retrospectively. Ten children with closed spinal dysraphism, nine with tethering after postpartum myelomeningocele repair, and one child with an infected open dermal sinus were included. A total of 22 detethering procedures were performed. The most common symptoms prior to surgery were muscle weakness and urinary dysfunction, followed by foot deformities and pain. Of all symptoms, pain responded most favorably to surgical treatment. There was improvement in 11 out of 15 patients with preoperative motor deficits, while that was the case in 11 out of 16 patients with urinary dysfunction. CONCLUSIONS: In view of the lack of evidence regarding the treatment of children with tethered cord syndrome, the best way to aim for a favorable outcome is correct indication for surgical intervention, combined with the implementation of technical advancements, such as intraoperative neurophysiological monitoring and ultrasound.

Multiple pheochromocytomas and paragangliomas in a young patient carrying a SDHD gene mutation.

UNLABELLED: We report a 13-year-old boy with an atypical manifestation of a multilocular paraganglioma. Surgical treatment was not curative despite extirpation of a left-sided abdominal paraganglioma. After surgery, the boy experienced several hypertensive crises. Further investigations including dopamine-positron emission tomography demonstrated bilateral adrenal tumours, a further right-sided paravertebral tumour as well as bilateral cervical glomus tumours. Genetic testing revealed a germline mutation in the succinate dehydrogenase subunit D (SDHD) gene. CONCLUSION: The final diagnosis was familial pheochromocytoma/paraganglioma type 1 (OMIM 168000). Antihypertensive treatment was succesfull and improved the patient's quality of life.