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. Results: Ten patients diagnosed with CM. The most common CM type was congenital fiber-type disproportion (CFTD) seen in four cases followed by centronuclear myopathy in two cases and one each in desmin-related myopathy, central core disease, nemaline myopathy, CM with type II fiber hypoplasia. Clinically, they have variable features. Conclusion: This study from India highlights the importance of specific clinical features to look for when suspecting a CM coupled with specific features in histopathology. However, studies with longer duration are needed to find out the true prevalence and various spectra of CMs.

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. Materials and Methods: Retrospective review of charts of patients with a diagnosis of NMDAR encephalitis was performed at the pediatric neurology department attached to a tertiary care hospital for 6 years from March 2014 to February 2020. Only those case records with NMDAR seropositivity in the cerebrospinal fluid were collected and those who presented with stroke-like episode/hemiparesis were retrieved separately and the data were extracted in a predesigned proforma and analyzed. Results: Six children of 24 seropositive anti-NMDAR encephalitis presented with hemiparesis/stroke-like episode. All the six patients presented with hemiparesis, behavioral changes, and regression of speech. Three children had seizures and one child had Epilepsia partialis continua. Two children had dystonia and choreoathetosis. Methylprednisolone followed by oral steroids were administered in all patients. Cases 1, 2, and 4 made a full recovery within 7 days, but cases 3, 5, and 6 showed improvement after 20 days following additional IVIG. Four children have cognitive decline and behavioral problems. Case 6 had relapse and recovered with rituximab. Conclusion: Anti-NMDA receptor encephalitis which is a potentially treatable disease should be considered in the differential diagnosis when a child presents with hemiparesis/stroke-like episode.

Objective: Central nervous system (CNS) tumors are the second most common neoplasms in children and they differ from their adult counterparts in terms of incidence, topography, clinical features, histology, and outcome. This article analyzes the incidence of supratentorial tumors, various histopathological entities, and their characteristics in pediatric patients <18 years of age. Materials and Methods: This was a retrospective study conducted at the Department of Neuropathology, Institute of Neurosurgery, MMC/RGGGH Chennai from January 2017 to December 2019. Data of supratentorial tumors in children less than 18 years of age procured and their histomorphological profile were analyzed. Results: In our institution, of a total of 1134 CNS and spinal neoplasms, 117 pediatric intracranial and 7 spinal neoplasms were reported and the incidence of supratentorial pediatric tumors was 44.44% (52 cases). Among which intraaxial tumors account for 38.46% with 20 cases, extraaxial tumors 51.92% with 27 cases, and intraventricular tumors 9.61% with five reported cases. Most common tumors reported were astrocytomas, craniopharyngioma, followed by ependymoma among othersConclusion: Though posterior fossa neoplasms are more common in children, supratentorial tumors show a rising trend worldwide in the pediatric population. Our study gives an overview of the incidence and histopathological profile of supratentorial CNS tumors.

Background: X-linked dystrophinopathies have a wide spectrum of manifestation. The most common forms are severe Duchenne muscular dystrophy (DMD) and Becker’s muscular dystrophy (BMD). However, less common manifestations are isolated cardiomyopathy, myalgia, cramps, rhabdomyolysis, hyperCKemia, and manifest female carriers. Materials and Methods: This case series is a part of an ongoing long-term prospective cohort of children with DMD and BMD from the year 2013. The clinical details are maintained in the clinic files and standard management protocols are followed. For this case series, clinical details were collected from the clinic files and recorded on a case record proforma. Details of cardiology, radiology, and genetic investigations were collected. Results: We report cases of classical DMD, BMD, manifest female carrier with proximal pelvic girdle weakness, a female carrier with isolated dilated cardiomyopathy, and infantile-onset asymptomatic hyperCKemia. We also report less common but notable clinical presentations of DMD, autism, intellectual disability, epilepsy, and asymptomatic transaminitis. Conclusions: It is important for clinicians to be aware of these less common clinical presentations for prompt diagnosis, and to avoid unnecessary investigations. Here, we report the clinical spectrum of dystrophinopathies seen in pediatric neuromuscular clinic and emphasize the variability and expanding knowledge about different manifestations of dystrophinopathies.

Introduction: The developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of rare neurodevelopmental disorders, characterized by early onset seizures that are often intractable, electroencephalographic abnormalities, developmental delay, or regression. The SCN1A pathogenic variants can present as DEE. They are characterized by early infantile seizure onset, profound intellectual disability, and a severe hyperkinetic movement disorder. Studies are lacking, hence we are reporting a case series of early SCN1A-related DEE. The objective of the study was to report clinical and molecular aspects of early SCN1A-related DEE. Materials and Methods: A retrospective chart review of children with DEEs secondary to SCN1A pathogenic variants from January 2015 to March 2020 in a tertiary care referral center from south India. Results: Out of eleven children, seven were boys. The mean age of presentation was 3.5 months. Nine children had seizures triggered by fever. All the children presented with focal and generalized seizures along with epileptic spasms. No focal neurological deficits were noted; routine testing, neuroimaging, and metabolic tests were normal in all the cases. In all the cases, hypsarrhythmia was noted on electroencephalogram (EEG). All the children had pathogenic variants in the SCN1A gene. Five children responded to steroids, one child responded to vigabatrin, and one child responded to stiripentol, but all of them had relapsed and were refractory to other antiepileptic drugs. At follow-up, all children had developmental delays and six of them had autistic features. Conclusion: Early SCN1A-related encephalopathies should be considered in the differential diagnosis of early infantile epileptic encephalopathies. Identification of this condition is important, as treatment and outcome are different from other epileptic encephalopathies.

Background: We aimed to study the radiological and epilepsy outcomes of children with multiple neurocysticercosis (NCC) and the relationship with hippocampus volume. Study Design: Observational study. Materials and Methods: Children between 5 and 18 years of age with NCC lesions and completed more than 2-year follow-up were enrolled. Magnetic resonance imaging (MRI) brain with a predefined protocol was done as per clinical indication, and bilateral hippocampi volume was measured with a region of interest-based manual method. Proportion of children who had radiological resolution of lesions, proportion of children who were seizure-free for at least 3 months after antiepileptic drugs withdrawal, and mean hippocampi volume were calculated. Results: During the study period, 229 children followed up in pediatric NCC clinic were enrolled, the mean age was 10.5 ± 3 years, and 129 (56%) were boys. A total of 159 (65%) children had single-lesion NCC, and 79 (35%) had multiple lesion (> 2) NCC. Resolution of lesions was seen in 8% children with multiple NCC, significantly less as compared to the single NCC group (8% vs. 27%, P = 0.006). Multiple-lesion NCC group had a higher rate of calcification as compared to children with a single lesion (66% vs. 47%, P = 0.008). Twenty-nine (37%) children with multiple-lesion NCC were seizure free for at least 3 months after antiepileptic drug withdrawal. Mean combined hippocampal volume in children with single-lesion NCC was 2.96 (0.62) mL and multiple-lesion NCC was 2.88(0.43) mL. Conclusion: Children with multiple-lesion NCC have lower resolution, and higher calcification during follow-up in comparison to single-lesion NCC. Frequency of children who remained seizure-free 3-month post AED withdrawal was similar in single- and multiple-lesion groups.

Aim: The objective of the study was to systematically bring out the clinical presentations, neuro-imaging features, treatment given, and long-term outcomes of children with cerebral venous sinus thrombosis (CVST). Materials and Methods: Data were obtained by retrospective analysis of electronic records spanning 13 years, of children (<18 years) with a confirmed diagnosis of CVST based on magnetic resonance imaging of the brain and managed at a tertiary care children’s hospital in the UK. Results: Seventeen patients with pediatric CVST were identified over a 13-year study period, highlighting the uncommon prevalence of this entity. This study comprised 10 males and seven females. The age range at presentation was between 2 days and 17 years with a median age of 5.5 years. Headache was the commonest presenting symptom in 10 of 17 children and focal neurological signs were seen in 11 of 17 patients. Among risk factors, six patients had an antecedent infection of the ear/mastoid, three children had acute leukemia, and two patients had central venous catheters. Para-infectious CVST (seven of 17 patients) responded well to appropriate antibiotic therapy. Thrombophilia screens were available in 10 of 17 patients with noninfectious CVST and returned abnormal in four patients (two with Factor V Leiden mutations and one each with deficiency of protein C and anti-thrombin III). Anticoagulants were used in only six of 17 cases and were generally well tolerated. Follow-up data revealed, 11 of 17 patients had a complete recovery and four of 17 patients had residual neurological deficits. Two children died in the entire cohort. Conclusion: Pediatric CVST is uncommon and has a different spectrum from adults, with unique clinical triggers and thrombophilic states. Management varies significantly among clinicians, due to the paucity of trial evidence and also due to the heterogeneity of this condition in children.

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. On follow-up, shunt malfunction was the most common complication. Only 26% of the survivors could achieve normal, neuropsychological developments. The mortality in this series is 6.7%.

Osteoid osteoma is a benign bony pathology. It presents either as a solitary lesion or as multiple lesions with a genetic predisposition. Reported more often in teenagers with thrice more common incidence among boys than in girls, it has a predilection for long bones of lower limbs. Less commonly arising from iliac crest or ribs; it is seen to be further rare to have originated from vertebrae or tarsal/carpal bones. Cranial osteomas are detected either incidentally on imaging or present as a bony hard swelling arising from the skull. Spinal intracanal osteomas are extremely rare to encounter in clinical practice. Cervical intracanal lesion in a case of hereditary multiple exostoses (HME) presenting with myelopathy is further rare. Less than thirty such cases have been reported so far. We present here a rare case of HME in a 16-year-old boy with compressive myelopathy secondary to intracanal cervical osteoma at C4 Lamina and spinous process. He had a phenotypical expression of hereditary multiple osteomas with a strong family history of inheritance of trait among first-degree male relatives favoring genetic transmission of disease with variable penetrance. All reported cases, to date, are discussed in a tabulated form.

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.

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.

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.

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.

A 13-month-old boy presented with delay in attainment of milestones. On examination, he had café au lait spots and central hypotonia. MRI brain with contrast revealed bilateral bulky enhancing optic nerves with involvement of chiasma. Mid-orbit downward kinking and pseudo-cerebrospinal fluid sign classical of optic nerve glioma (OPG) with neurofibromatosis1 (NF1) could be well appreciated in the MRI. Correct identification of OPG may help in the diagnosis of NF1 in a young child, as other phenotypic features appear later in childhood.