Case report: A third variant in the 5' UTR of creates a novel upstream translation initiation site in a child with Saethre-Chotzen syndrome.

Saethre-Chotzen syndrome, a craniosynostosis syndrome characterized by the premature closure of the coronal sutures, dysmorphic facial features and limb anomalies, is caused by haploinsufficiency of . Although the majority of variants localize in the coding region of the gene, two variants in the 5' UTR have been recently reported to generate novel upstream initiation codons. Skeletal dysplasia Next-generation sequencing (NGS) panel was used for genetic analysis in a patient with bicoronal synostosis, facial dysmorphisms and limb anomalies.

3-Step didactic white matter dissection of human cerebellum: Micro-neuroanatomical training.

Objectives: A thorough understanding of cerebellum anatomy is essential in 4th ventricle approaches (more frequent in pediatric neurosurgery), avoiding relevant complications such as cerebellar mutism. The aim of the present work is to show the feasibility of a didactic dissection of human cerebellum focusing on cerebellar peduncles and dentate nucleus (DN), which are structures at high risk during these surgical procedures.

Material And Methods: The cerebellum was dissected according to the Klingler method for white matter, using standard and specific microsurgery tools.

The hippocampus as the switchboard between perception and memory.

Adaptive memory recall requires a rapid and flexible switch from external perceptual reminders to internal mnemonic representations. However, owing to the limited temporal or spatial resolution of brain imaging modalities used in isolation, the hippocampal-cortical dynamics supporting this process remain unknown. We thus employed an object-scene cued recall paradigm across two studies, including intracranial electroencephalography (iEEG) and high-density scalp EEG.

3-Step didactic white matter dissection of human cerebellum: Micro-neuroanatomical training.

Objectives: A thorough understanding of cerebellum anatomy is essential in 4 ventricle approaches (more frequent in pediatric neurosurgery), avoiding relevant complications such as cerebellar mutism. The aim of the present work is to show the feasibility of a didactic dissection of human cerebellum focusing on cerebellar peduncles and dentate nucleus (DN), which are structures at high risk during these surgical procedures.

Material And Methods: The cerebellum was dissected according to the Klingler method for white matter, using standard and specific microsurgery tools.

Diffuse leptomeningeal glioneuronal tumour: where to biopsy? Case report and literature review.

Purpose: Diffuse leptomeningeal glioneuronal tumour (DLGT) is an infrequent entity. Diagnosis is made with biopsy but with so few cases described management, prognosis remains undefined. There are not currently any articles regarding most effective place to biopsy.

Risk factors associated with conversion of an Ommaya reservoir to a permanent cerebrospinal fluid shunt in preterm posthemorrhagic hydrocephalus.

Objective: A considerable percentage of preterm infants with posthemorrhagic hydrocephalus initially managed with an Ommaya reservoir require a permanent CSF shunt. The objective of the study was to analyze possible risk factors associated with the need for converting an Ommaya reservoir to a permanent shunt.

Methods: The authors retrospectively reviewed the clinical records of premature infants weighing 1500 g or less with posthemorrhagic hydrocephalus (Papile grades III and IV) managed with an Ommaya reservoir at their institution between 2002 and 2017.

Atypical clinical presentation and long-term survival in a patient with optic nerve medulloepithelioma: a case report.

Introduction: Medulloepithelioma is a rare congenital tumor of the primitive medullary neuroepithelium. A significant proportion of patients with medulloepithelioma arising from the optic nerve die from intracranial spread or cerebral metastasis. Because it has no known distinct clinical features and because of its low frequency, this tumor presents within the first two to six years of life and is usually misdiagnosed clinically as a different type of optic nerve tumor.

[Primary prophylaxis of early seizures after surgery of cerebral supratentorial tumors: Group for the Study of Functional-Sterotactic Neurosurgery of The Spain Society of Neurosurgery recommendations].

Our review of the literature is basically focused on the primary prophylaxis of early seizures after surgery of cerebral supratentorial tumors, with the aim of suggesting several recommendations in medical antiepileptic treatment to avoid this kind of seizures which occur immediately after surgery. In conclusion, it is recommended to provide criteria for prophylaxis of early seizures after surgery of cerebral supratentorial tumors. It́s recommended a one week treatment with antiepileptic drugs in patients who didńt have seizures jet, starting immediately after the surgical treatment.

[Cerebral hemisphere tumours in neurofibromatosis type 1 during childhood].

Aim: To present seven tumors of the cerebral hemispheres in 6 children with neurofibromatosis type 1 (NF1).

Patients And Methods: Six patients (three males and three females) of 600 cases of a series with NF1 showed features of cerebral hemispheres tumor (seizures, headache and hemiparesis). They were studied neurologically, by EEG and by image (MR and/or spectroscopic-MR) because of these features or simply because having NF1.