Isolated bulbar palsy and dysphagia in children with respiratory symptoms.

Oropharyngeal dysphagia can cause chronic aspiration leading to significant respiratory symptoms. When dysphagia is diagnosed, an underlying cause is sought. We present a case series of 15 children diagnosed aged 6 months to 5 years (mean 2y 5mo; 11 males, four females) over a 6-year period, who were found to have an isolated bulbar palsy on genioglossus electromyography, with no accompanying neurological or neurodevelopmental disorder. Eight children had dysphagia but a normal EMG. In those with isolated bulbar palsy, management included thickened fluids (n=13), cooled boiled water (n=1), and nasogastric tube feeding (n=1). Follow-up over 1 to 8 years (mean 5y) showed complete resolution in six children, improvement in four children, and no improvement in five children (including two requiring fluids via a gastrostomy). Eight children no longer had any respiratory symptoms. Isolated bulbar palsy is under-recognized and has not been reported previously as a cause of significant dysphagia in children.

A systematic review of surgical treatments of idiopathic intracranial hypertension (IIH).

Idiopathic intracranial hypertension denotes raised intracranial pressure in the absence of an identifiable cause and presents with symptoms relating to elevated ICP, namely headaches and visual deterioration. Treatment of IIH aims at reducing intracranial pressure, relieving headache and salvaging patients' vision. Surgical interventions are recommended for medically refractory IIH and include CSF diversion techniques, optic nerve sheath fenestration, bariatric surgery and venous sinus stenting. Prospective studies on the surgical options for IIH are scant and no evidence-based guidelines for the surgical management of medically refractory IIH have been established. A search in Cochrane Library, MEDLINE and EMBASE from 1 January 1985 to 19 April 2019 for controlled or observational studies on the surgical treatment of IIH (defined in accordance with the modified Dandy or the modified Friedman criteria) in adults yielded 109 admissible studies. VSS improved papilledema, visual fields and headaches in 87.1%, 72.7% and 72.1% of the patients respectively, with a 2.3% severe complication rate and 11.3% failure rate. CSF diversion techniques diminished papilledema, visual field deterioration and headaches in 78.9%, 66.8% and 69.8% of the cases and are associated with a 9.4 severe complication rate and a 43.4% failure rate. ONSF ameliorated papilledema, visual field defects and headaches in 90.5, 65.2% and 49.3% of patients. Severe complication rate was 2.2% and failure rate was 9.4%. This is currently the largest systematic review for the available operative modalities for IIH. VSS provided the best results in headache resolution and visual outcomes, with low failure rates and a very favourable complication profile. In light of this, VSS ought to be regarded as the first-line surgical modality for the treatment of medically refractory IIH.

SCN2A mutation in an infant with Ohtahara syndrome and neuroimaging findings: expanding the phenotype of neuronal migration disorders.

Neuronal migration disorders (NMDs) are a heterogeneous group of conditions caused by the abnormal migration of neuroblasts in the developing brain and nervous system, resulting in severe developmental impairment, intractable epilepsy and intellectual disability (Spalice et al. 2009). To date, many genes have been identified as the leading cause of migration defects, i.e. agyria/pachygyria, polymicrogyria, heterotopias, agenesis of the corpus callosum and agenesis of the cranial nerves (Spalice et al. 2009). Here, we present a patient with early infantile epileptic encephalopathy (Ohtahara syndrome) with seizure onset on the first dayof life, severe developmental delay and an abnormal brain MRI with excessive folding of small, fused gyri and bilateral perisylvian polymicrogyria, suggestive of neuronal migration disorder. To clarify the unknown aetiology, we conducted whole-exome sequencing, which detected a de novo missense variant (c.5308A>T; p.(Met1770Leu)) in the SCN2A gene. This is a report of SCN2A gene variant identified in a patient with neuronal migration disorder which could further expand the phenotypic spectrum of these genetic disorders.

Maternal environmental risk factors for congenital hydrocephalus: a systematic review.

OBJECTIVE Congenital hydrocephalus (CH) is one of the most frequent CNS congenital malformations, representing an entity with serious pathological consequences. Although several studies have previously assessed child-related risk factors associated with CH development, there is a gap of knowledge on maternal environmental risk factors related to CH. The authors have systematically assessed extrinsic factors in the maternal environment that potentially confer an increased risk of CH development. METHODS The Cochrane Library, MEDLINE, and EMBASE were systematically searched for works published between 1966 and December 2015 to identify all relevant articles published in English. Only studies that investigated environmental risk factors concerning the mother-either during gestation or pregestationally-were included. RESULTS In total, 13 studies (5 cohorts, 3 case series, 3 case-control studies, 1 meta-analysis, and 1 case report) meeting the inclusion criteria were identified. Maternal medication or alcohol use during gestation; lifestyle modifiable maternal pathologies such as obesity, diabetes, or hypertension; lack of prenatal care; and a low socioeconomic status were identified as significant maternal environmental risk factors for CH development. Maternal infections and trauma to the mother during pregnancy have also been highlighted as potential mother-related risk factors for CH. CONCLUSIONS Congenital hydrocephalus is an important cause of serious infant health disability that can lead to health inequalities among adults. The present study identified several maternal environmental risk factors for CH, thus yielding important scientific information relevant to prevention of some CH cases. However, further research is warranted to confirm the impact of the identified factors and examine their underlying behavioral and/or biological basis, leading to the generation of suitable prevention strategies.