Journal of Pediatric Neurosciences

Patients presenting with craniofacial conditions present a unique challenge from an ophthalmological view point. There are no set guidelines as to their management or their long-term monitoring and follow-up. Largely, this should be the remit of a dedicated craniofacial team. Here we present pertinent ophthalmological pathology occurring in combination with craniosynostosis alongside the protocol employed in Birmingham Children's Hospital for the management of these patients.

No abstract text is available yet for this article.

Most complex craniosynostoses are managed the same way as syndromic craniosynostoses (SCs), as these patients often experience similar problems regarding cognition and increased intracranial pressure (ICP). The evaluation and treatment plan for craniosynostoses is complex, and this, additionally, is complicated by the age at presentation. In this article, the authors review the complexity of SCs in the presentation and management. An algorithm is necessary for such multifaceted and multidimensional pathology as craniosynostoses...

Nonsyndromic craniosynostosis (NSC) is more common than syndromic craniosynostosis and predominantly involves single suture. It affects sagittal, coronal, metopic, and lambdoid sutures in the decreasing order of frequency. A surgery for NSC is generally recommended to avoid potential neurodevelopmental delays and sequelae of raised intracranial pressure. Open calvarial vault reconstruction, strip craniectomy with/without the use of a postoperative molding helmet, strip craniectomy with spring implantations, endoscopic suture release, and cranial distraction osteogenesis are various surgical options used for NSC cases...

Chiari 1 malformation and hydrocephalus are frequent findings in multi-suture and syndromic craniosynostosis patients. In this article, we review the pathogenesis, clinical significance, and management options for these conditions with comments from our own experience. The role of premature fusion of skull base sutures leading to a crowded posterior fossa and venous outflow obstruction resulting in impaired cerebrospinal fluid (CSF) absorption is highlighted. Management options are unique in this group and we advocate early (prior to 6 months of age) posterior vault expansion by distraction osteogenesis (DO) in the management of Chiari 1 malformation...

Three-dimensional (3D) photography is becoming more common in craniosynostosis practice and may be used for research, archiving, and as a planning tool. In this article, an overview of the uses of 3D photography will be given, including systems available and illustrations of how they can be used. Important innovations in 3D computer vision will also be discussed, including the potential role of statistical shape modeling and analysis as an outcomes tool with presentation of some results and a review of the literature on the topic...

Craniosynostosis is premature fusion of sutures of the cranium, resulting in an abnormal skull shape and restriction of brain growth. It may affect either a single suture or multiple sutures. In most cases, craniosynostosis is secondary to an underlying abnormality of the growing brain; however, syndromic craniosynostosis is not uncommon. It might lead to several complications such as raised intracranial pressure, neurological deficits, and neurodevelopmental disabilities. Pediatric neurologists do play a significant role in early identification and treatment, and thereby ensure a better clinical and neurodevelopmental outcome in such children...

No abstract text is available yet for this article.

Aim: To summarize the experience of the author with the treatment of hypertelorism. Settings and Design: The author has been heading a high-caseload department of craniofacial surgery for 38 years; the research is based on his experience with this pathology by this time. Materials and Methods: The charts of 38 patients were used for this research. Statistical Analysis Used: No statistic was used; the author has just given his personal insights as the result of a professional life devoted to the problem...

Over the past 30 years, advances in endoscopic technology and advancing interest in the benefits of minimally invasive approaches for craniofacial surgery have resulted in these techniques becoming a part of the standard of care in the treatment of craniosynostosis. In this review, we discuss the evolution and adoption of endoscopic-assisted strip craniectomy procedures. In addition to reviewing the studies describing various nuances and modifications to minimally invasive strip craniectomy, attention to comparisons in outcomes between traditional or open cranial vault reconstructions and endoscopic-assisted techniques is highlighted for different craniosynostosis diagnoses...

Context: The well-known effects of ionizing radiation on brain cells have been a major driving force toward the use of non-ionizing methods of imaging in both elective and emergency settings. Pediatric neurosurgery has certainly leveraged on this shift in clinical practice, however patients with craniofacial disorders could not fully benefit from the adoption of magnetic resonance imaging (MRI) because computed tomography (CT) scans still retain superior imaging power on bone tissue. Aims: To explore the knowledge available on the use of MRI as surrogate for CT scan in the assessment of craniosynostosis...

No abstract text is available yet for this article.

Alpha-mannosidosis is a lysosomal storage disorder caused by mutations in MAN2B1 gene. A 7-year-old girl child, born of a consanguineous marriage, presented with developmental delay, seizures, and hearing impairment. On examination, she had coarse features without hepatosplenomegaly. On investigations, low levels of the enzyme alpha-mannosidase level were observed. Targeted next-generation sequencing revealed a novel pathogenic variant p.Trp469Ter on exon 11 of MAN2B1 gene.

Multiloculated hydrocephalus has an overall dismal functional outcome; imaging, early diagnosis, and technological advancements have made new roads in its management. Thirty infants with multiloculated hydrocephalus were studied. Progressive enlargement of the head was the most common presentation in 77%; of these, 47% were treated for neonatal meningitis and septicemia and 20% had suffered birth trauma. The majority required a single ventriculoperitoneal shunt; nine of them required multiple shunts; and six were managed with endoscopic fenestration and endoscopic third ventriculostomy...

Background: Anti- N -methyl-D-aspartate receptor (anti-NMDAR) encephalitis is one of the common causes of treatable encephalitis in children characterized by severe memory deficit, speech disturbances, seizures, autonomic dysfunction, and movement disorders. Hemiparesis/stroke-like episode is not a usual presenting complaint of NMDAR encephalitis. The objective of this study was to report confirmed cases of seropositive anti-NMDAR encephalitis in children who presented with hemiparesis/stroke-like episodes...

Severe stenotic aortic valve poses serious anesthetic challenges because of the fixed cardiac output and complex hemodynamics. The challenges magnify in the presence of a difficult airway which not only puts the airway at risk but also disturbs the hemodynamics, which can negatively impact the patient outcome. Moreover, prone positioning, intraoperative hemodynamics, recovery, and extubation are equally challenging for management. This case report highlights the perioperative management of a child with severe uncorrected aortic stenosis and Klippel-Feil syndrome posted for cervical spinal stabilization under anesthesia...

No abstract text is available yet for this article.

Objective: Congenital myopathies (CMs) are rare neuromuscular disorders. Through this article, authors want to present a clinicopathological study of 10 cases of CM. Materials and Methods: The study included patients with histopathologically confirmed CM attending the neurology services at the Institute of Human Behavior and Allied Sciences for 2 years. After collecting the demographic data, all patients were subjected to comprehensive workup including a detailed neurological examination and investigations, including muscle biopsy from representative involved muscle...

β-propeller protein-associated neurodegeneration (BPAN) is a subtype of neurodegeneration with brain iron accumulation. Characteristic neuroimaging features can help distinguish BPAN from other disorders and prompt confirmatory genetic testing.

Cyanotic congenital heart disease (CCHD) is often associated with more than one cardiac anomaly with unique hemodynamic pattern, hence presenting a plethora of challenges to non-cardiac anesthesiologists. Understanding the pathophysiology of the cardiac lesion and constructing a cardiac grid can help in determining intraoperative hemodynamic goals and facilitate smooth perioperative management of such patients. This case report describes the anesthetic management of an infant with dextro-transposition of great arteries (dTGA) with a large atrial septal defect, ventricular septal defect, severe pulmonary stenosis, and patent ductus arteriosus posted for excision and repair of occipital meningocele and highlights the role of cardiac grid in clarifying anesthetic goals and ensuring better outcomes...