Fronto-orbital advancement in a patient with Marshall-Smith syndrome: a case report and review of the literature.

OBJECTIVE: The present report aimed to document the clinical features of a case of Marshall-Smith syndrome (MSS), an extremely rare embryonic developmental disorder with associated craniosynostosis. PATIENT AND METHOD: We presented herein a case of a 2-year-old female patient with MSS who underwent fronto-orbital advancement for multisuture craniosynostosis. RESULTS: The patient's proptosis improved after surgery, and no further surgical intervention was required for corneal exposure. A second FOA followed by revision tarsorrhaphy further improved eye closure. CONCLUSION: Surgical procedures to correct dysplastic features and limit neurological impairment are a worthwhile supportive treatment for improving the quality of life and general condition of patients with MSS.

Molecular characterization of CNS paragangliomas identifies cauda equina paragangliomas as a distinct tumor entity.

Paragangliomas/pheochromocytomas are rare neuroendocrine tumors that arise from the adrenal gland or ganglia at various sites throughout the body. They display a remarkable diversity of driver alterations and are associated with germline mutations in up to 40% of the cases. Comprehensive molecular profiling of abdomino-thoracic paragangliomas revealed four molecularly defined and clinically relevant subtypes. Paragangliomas of the cauda equina region are considered to belong to one of the defined molecular subtypes, but a systematic molecular analysis has not yet been performed. In this study, we analyzed genome-wide DNA methylation profiles of 57 cauda equina paragangliomas and show that these tumors are epigenetically distinct from non-spinal paragangliomas and other tumors. In contrast to paragangliomas of other sites, chromosomal imbalances are widely lacking in cauda equina paragangliomas. Furthermore, RNA and DNA exome sequencing revealed that frequent genetic alterations found in non-spinal paragangliomas-including the prognostically relevant SDH mutations-are absent in cauda equina paragangliomas. Histologically, cauda equina paragangliomas show frequently gangliocytic differentiation and strong immunoreactivity to pan-cytokeratin and cytokeratin 18, which is not common in paragangliomas of other sites. None of our cases had a familial paraganglioma syndrome. Tumors rarely recurred (9%) or presented with multiple lesions within the spinal compartment (7%), but did not metastasize outside the CNS. In summary, we show that cauda equina paragangliomas represent a distinct, sporadic tumor entity defined by a unique clinical and morpho-molecular profile.

Pediatric intraventricular arachnoid cysts in the body of lateral ventricle: surgical outcome and its embryologic background.

PURPOSE: The aim of this study is for the surgical treatment and outcome of the endoscopic fenestration of the arachnoid cyst located in the ventricular body to trigone in the pediatric population. Special concern was paid for the developmental origin of the intraventricular cysts estimated from the postoperative follow-up neuroimagings. PATIENTS AND METHODS: Between July 2002 and June 2015, we performed endoscopic and partly CT/MRI navigated fenestrations of intraventricular arachnoid cysts located at the body to trigone of the lateral ventricle in ten pediatric patients aged 2 months to 5 years. Based on the long axis of the cyst, we have opted for two surgical approaches: anterior approach via burr hole at Kocher's point and posterior approach via burr hole at the posterior occipital region. Fenestration was performed based on the intraoperative findings, either ventriculocystostomy, ventriculocystoventriculostomy, or ventriculocystocisternostomy. RESULTS: Intraventricular arachnoid cysts located in the body-trigone region showed a favorable outcome after endoscopic fenestration. All of the cysts shrank postoperatively. Follow-up neuroimagings taken between 6 and 126 months after surgery strongly suggested its relationship with the midline cisterns. Of our ten cases, eight were suggestive for originating from the velum interpositum cistern while two seemed to root from the quadrigeminal cistern. CONCLUSION: In the present study, we found that endoscopic fenestration of intraventricular arachnoid cysts in the body to trigone is a safe procedure with a satisfactory outcome. In our limited experience, there are two anatomic backgrounds; velum interpositum cistern and quadrigeminal cistern. Differentiation can be possible by neuroimagings, especially those obtained after surgery.

Excessive daytime sleepiness in patients with Parkinson's disease.

Excessive daytime sleepiness (EDS) is described as inappropriate and undesirable sleepiness during waking hours and is a common non-motor symptom in Parkinson's disease, affecting up to 50% of patients. EDS has a large impact on the quality of life of Parkinson's disease patients as well as of their caregivers, in some cases even more than the motor symptoms of the disease. Drug-induced EDS is a particular problem as many dopamine agonists used for the treatment of Parkinson's disease have EDS as an adverse effect. Dopaminergic treatment may also render a subset of Parkinson's disease patients at risk for sudden-onset sleep attacks that occur without warning and can be particularly hazardous if the patient is driving. This demonstrates the need for early recognition and management not only to increase health-related quality of life but also to ensure patient safety. There are many assessment tools for EDS, including the Epworth Sleepiness Scale (ESS) and the Multiple Sleep Latency Test (MSLT), although only the Parkinson's Disease Sleep Scale (PDSS) and the SCales for Outcomes in PArkinson's Disease-Sleep (SCOPA-S) are specifically validated for Parkinson's disease. Polysomnography can be used when necessary. Management comprises non-pharmacological and pharmacological approaches. Non-pharmacological approaches can be the mainstay of treatment for mild to moderate EDS. Advice on good sleep hygiene is instrumental, as pharmacological approaches have yet to provide consistent and reliable results without significant adverse effects. The efficacy of pharmacological treatment of EDS in Parkinson's disease using wakefulness-promoting drugs such as modafinil remains controversial. Further areas of research are now also focusing on adenosine A(2A) receptor antagonists, sodium oxybate and caffeine to promote wakefulness. A definitive treatment for the highly prevalent drug-induced EDS has not yet been found.