Sleep in Children with Congenital Malformations of the Central Nervous System.

PURPOSE OF REVIEW: Congenital malformations of the central nervous system may be seen in isolation or in association with syndromes that have multiorgan involvement. Among the potential health challenges these children may face, sleep concerns are frequent and may include chronic insomnia, sleep-related breathing disorders, and circadian rhythm disorders. RECENT FINDINGS: In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including visual impairment, septo-optic dysplasia, agenesis of the corpus callosum, Aicardi syndrome, Chiari malformation, spina bifida, achondroplasia, Joubert syndrome, fetal alcohol spectrum disorders, and congenital Zika syndrome. In many cases, the sleep disturbance can be directly related to observed anatomical differences in the brain (such as in apnea due to Chiari malformation), but in most syndromes, a complete understanding of the underlying pathophysiology connecting the malformation with sleep problem is still being elucidated. Our review provides a synthesis of available evidence for clinicians who treat this patient population, in whom appropriate diagnosis and management of sleep problems may improve the quality of life for both patient and caregiver.

Single center experience with treatment of spinal dural arteriovenous fistulas.

Spinal dural arteriovenous fistulas (SDAVFs) are rare pathologies with a yearly incidence of 5-10 new cases/million, constituting 60-80 % of spinal arteriovenous malformations. Clinical symptoms include progressive paraparesis, paresthesias, bladder, and bowel disturbances. The pathophysiology of SDAVFs is not well elucidated. Microneurosurgery and endovascular techniques are established treatment modalities for permanent fistula occlusion, which are oftentimes accompanied by an amelioration of neurological deficits in the long run. Here, we report our interdisciplinary neurosurgical/neuroradiological management strategy of SDAVFs in 32 patients who were evaluated retrospectively. We focused on clinical presentation, microneurosurgical and interventional technique, early, and late neurological results. Quality of life (QoL) was additionally assessed in 12 patients at last follow-up. We discuss the results against the background of the current literature. Our series and the literature indicate that clinical outcome after treatment of SDAVF is favorable in general. Both neurosurgical and neurointerventional therapies appear to be safe and effective, but short-term neurological deterioration after the intervention constitutes an as-of-yet unsolved problem. Beyond age and preoperative neurological state, presence of comorbidities had a significant influence on neurological outcome in our study sample. Self-assessed physical and mental QoL at long-term follow-up was reduced in quite a number of patients and was associated with a poorer neurological result as well as presence of comorbidities. The patients' perspective in terms of QoL was first investigated in this study, but further research on QoL and psychosocial impairment of SDAVF patients is needed to enable individualized counseling and rehabilitation strategies.

Episodic encephalopathy due to an occult spinal vascular malformation complicated by superficial siderosis.

Superficial siderosis (SS) of the central nervous system is a rare condition caused by chronic subarachnoid hemorrhage. Clinical manifestations typically include sensorineural hearing loss and cerebellar ataxia. Recurrent episodic encephalopathy in the setting of SS has not been reported. We describe a unique case of SS in a 67-year-old man with an 8-year history of episodic encephalopathy associated with headache and vomiting. The patient also had a history of progressive dementia, ataxia, and myelopathy. A diagnosis of superficial siderosis was made after magnetic resonance gradient-echo images showed diffuse hemosiderin staining over the cerebellum and cerebral convexities. No intracerebral source of hemorrhage was identified. The patient therefore underwent gadolinium-enhanced spinal MRI which suggested a possible vascular malformation. A therapeutic laminectomy subsequently confirmed an arteriovenous fistula which was resected. In SS, there are often long delays between symptom onset and definitive diagnosis. Early identification is facilitated by magnetic resonance imaging with gradient-echo sequences. When no source of hemorrhage is identified intracranially, then total spinal cord imaging is indicated to assess for an occult source of hemorrhage as occurred in our case.

Developmental outcomes for neonatal dural arteriovenous fistulas.

Large dural arteriovenous malformations (DAVMs) accompanied by cardiac failure usually carry a poor prognosis with a high risk of morbidity and death. The authors report on the case of a male neonate with a massive DAVM who presented at birth with macrocephaly and high-output cardiac failure. The child initially underwent treatment with surgical clipping of the large main feeding artery. Hydrocephalus, thought to be due to venous hypertension, developed when the boy was 8 months old. The condition resolved after interventional embolization treatment. The patient did not require placement of a ventriculoperitoneal shunt. At 21 months of age, the child had near normal development without any focal neurological deficits.

[Malformation of cortical development: which strategy is best?]. / Malformations du développement cortical: quelles stratégies ?

Malformations of cortical development (MCD) correspond to a broad spectrum of cerebral lesions resulting from cortical development abnormalities during embryogenesis. They are frequently associated with drug-resistant epilepsy as well as more or less severe neurological and cognitive deficits. Diagnosis of MCD has greatly improved with the progress in contemporary imaging techniques, and patients with cryptogenic epilepsy are increasingly recognized as having MCD. Current classifications based on the combination of clinical, imaging, genetic and pathological data allow analysis of homogeneous patient series and optimal therapeutic strategies. Successful surgical treatment can be proposed to patients with focal lesions such as focal cortical dysplasia or tumors associated with cortical dysplasia (dysembryoplastic neuroepithelial tumors and gangliogliomas). Favorable outcome can also be obtained in some diffuse cases such as tuberous sclerosis, periventricular heterotopia and polymicrogyria. Invasive monitoring, especially stereoelectroencephalography (SEEG), has proved to be useful in determining the organization of the epileptogenic zone in each MCD type and planning cortical resections. Moreover, establishing correlations between neurophysiological data, imaging and pathological findings has allowed surgery without previous invasive procedures in the majority of focal MCD types; however, intracranial recordings remain necessary in case of more diffuse MCD.

Dural arteriovenous fistula presents like an ischemic stroke.

OBJECTIVE: We report the case of a patient with a dural arteriovenous fistula whose neurobehavioral syndrome was indistinguishable from that of an ischemic stroke. BACKGROUND: Case studies of dural arteriovenous fistulas primarily describe global cognitive changes like dementia, but detailed neurocognitive evaluations of dural arteriovenous fistula patients are rarely reported. METHOD: We provide a dural arteriovenous fistula case of a patient who presented with aphasia and other symptoms of stroke. Background history, serial neuropsychological data, and angiographic images are presented. RESULTS AND CONCLUSIONS: Serial neurocognitive data show the extent to which cognitive deficits are reversed with embolization. The case demonstrates that the mechanisms underlying neurocognitive deficits are specific to the fistula's unique hemodynamic features in addition to the location of the dural arteriovenous fistula.