Background: Cerebral palsy (CP), the most common developmental disorder, has many comorbidities (epilepsy and behavioral issues). Sleep disturbances are common complaints of parents and are usually neglected in pediatric populations in comparison to other well-documented co-morbidities of CP but may have a significant effect on the quality of life of children and their parents. Objective: To study the prevalence and pattern of sleep disorders (SD) in children with CP. Study Design: Questionnaire-based observational study. Setting: Pediatric tertiary care center. The study was done over 6 months. Participants: In total, 200 children with CP between the ages of 1 year to 14 years were included in the study by convenience sampling. Co-morbid health problems involving cardiorespiratory system, other illness (e.g. epilepsy and gastroesophageal reflux disease), or children on anticonvulsant medications altering sleep patterns were excluded. Intervention: The Sleep Disturbance Scale for Children (SDSC) was administered to assess the presence of pathological sleep and type of SD ranging between Disorders of Initiation and Maintenance of Sleep (DIMS), Sleep Breathing disorders (SBD), Disorders of Arousal (DA), Sleep-Wake Transition Disorders (SWTD), Disorders of Excessive Somnolence (DES), and Sleep Hyperhydrosis (SHY). Main Outcome Measures: Sixty-two percentage of children (124) had a pathological total sleep score (score >39). Results: DIMS are the most common, occurring in 78.2% of subjects with a pathological sleep score (score >39). Quadriplegics [n = 96, mean score = 49.86(16.38)] and GMFCS V [n = 19, mean score = 58.00(17.10)] are most severely affected. Conclusion and Discussion: Children with CP have under-reported SD and DIMS is the most common type of SD. There is a linear correlation between the extent of topographical and motor afflictions and SD.

Cerebral folate transport deficiency results from impaired folate transport across the blood:choroid plexus:cerebrospinal fluid (CSF) barrier. This leads to low CSF 5-methyltetrahydrofolate (5MTHF), the active folate metabolite. We are reporting two children with this treatable cerebral folate transport deficiency. Case 1: Seventeen-year-old boy presented with delayed milestones followed by regression, seizures, and intention tremors. On examination child had pyramidal and cerebellar signs. Magnetic resonance imaging (MRI) of brain revealed diffuse cerebral and cerebellar atrophy. Targeted next generation sequencing revealed homozygous missense pathogenic variant in FOLR1 gene in exon 4 c.382C>T p.R128W, confirming the diagnosis of cerebral folate deficiency. Case 2: Six-year-old male child presented with delayed milestones, myoclonic jerks and cognitive regression from 3 years of age. Child had microcephaly with ataxia. Computed tomography (CT) of brain revealed multifocal calcifications. MRI brain revealed cerebellar atrophy with hyperintense T2 signal changes in the subcortical white matter of frontal and temporal lobes. Genetic testing revealed homozygous variant (c.493+2_493+6delTGAGG) in intron 4 of the FOLR1 gene which is a novel pathogenic variant. Both children started on folinic acid and there was a significant improvement in development, behavior, ataxia, and decrease in seizure frequency. In conclusion, cerebral folate transport deficiency should be suspected in every child with global developmental delay, epilepsy, ataxia and neuroimaging showing cerebellar atrophy and calcification. Response to folinic acid supplementation is partial if diagnosed late and treatment initiation is delayed.

With the advent of modern neuroimaging, the imaging features of various leukoencephalopathies have been unraveled in the past two decades. Leukoencephalopathy with calcifications and cysts (LCC) is one such rare autosomal recessive disorder with marked clinical heterogeneity and a striking but characteristic imaging appearance—diffuse white matter changes, intraparenchymal cysts, and calcifications. The calcifications in LCC are characteristically nodular, dense, bulky, and predominantly located in gray nuclei of the central brain (basal ganglia, thalami) and cerebellum (dentate nuclei). We describe a case of a 9-year-old boy with progressive left hemiparesis and seizures, which on imaging showed characteristic features of LCC. We further review the neuroimaging features of LCC and its differential diagnoses.

Congenital kyphoscoliosis associated with myotonic dystrophy type 1 (DM 1) is a rare combination and carries challenges of surgical as well as anesthetic intervention. The presence of muscular dystrophy may accelerate progression of scoliosis thus requiring surgical treatment. The objective of this case report was to discuss the perioperative anesthetic and surgical management of such cases.

We describe a case of a 2-year-old female child who presented as emergency with acute gastroenteritis and severe dehydration. In this patient, there was a history of severe birth asphyxia, and the developmental milestones were delayed. The child was managed as hypotonic cerebral palsy elsewhere with antiepileptic drug and nutritional supplements. However, persistent abnormal pattern of breathing after adequate hydration and noncontributory metabolic profile raised the suspicion of alternate etiology. Later, the diagnosis of Joubert syndrome was established on contrast-enhanced magnetic resonance imaging of brain with findings of “molar tooth sign” appearance along with vermian hypoplasia. We present this case to alert the clinicians to explore all the differential diagnoses carefully whenever a child presents with the developmental delay associated with multisystem involvement.

Mutations in seizure threshold 2 (SZT2) gene on chromosome 1p34.2 are an of late identified cause of epilepsy and epileptic encephalopathy. We report a 3-year-old girl who presented with developmental delay, dysmorphic facies, refractory seizures, and subsequent developmental regression. Despite significant multifocal epileptiform abnormalities on her electroencephalogram, she had a paucity of generalized discharges indicating a functional deficiency of corpus callosum inspite of its increased thickness seen on magnetic resonance imaging. Her clinical exome sequencing revealed a homozygous single base pair duplication in the SZT2 gene that resulted in a frameshift mutation and premature truncation of the protein. Our case emphasizes the role of SZT2 gene in the diagnostic algorithm of early childhood refractory epilepsy especially in the context of a thick yet dysfunctional corpus callosum.

Allan Herndon Dudley syndrome (AHDS) is a rare X-linked recessive disorder due to mutation in the SLC16A2 gene, which encodes a thyroid hormone (TH) transporter that facilitates the movement of TH across the neurons. Mutation in this gene leads to a lack of T3 and T4 entry in the brain, which causes central hypothyroidism and dysthyroidism in the peripheral tissue. We report a child, a 21-month-old boy, who presented with developmental delay and stiffness. The child had facial dysmorphism with dystonia. MRI of the brain was normal. Thyroid profile showed low free T4, and normal TSH but high free T3. Hence, AHDS was suspected and was confirmed by targeted next-generation testing and Sanger sequencing.

Congenital combined deficiency of factor V and factor X deficiency is extremely rare. We report this for the first time in literature in an infant who developed acute subdural hematoma in posterior fossa leading to hydrocephalus.

Complex I, the largest multisubunit enzyme complex of the respiratory chain, has a vital role in the energy production of the cell, and the clinical spectrum of complex I deficiency varies from severe lactic acidosis in infants to muscle weakness in adults. Pathogenic variants of NDUFS3 (constitutes the catalytic core of the complex I) have been reported in a small number of patients with variable phenotypes. We describe a girl with a history of infantile-onset nonepileptic myoclonus, who developed myopathy at the age of 2 years. Next-generation sequencing revealed compound heterozygous for two variants in the NDUSF3 gene. The electron-microscopic study of the skeletal muscle showed an increase in the number of mitochondria inside the myofibers; mitochondria were variably enlarged with some irregularity and were aligned perpendicular to the myofibrils in a stacked-up manner. This is the first description of mitochondrial ultrastructural abnormality in an individual with NDUFS3-related disorder.

Background: Extramedullary hematopoiesis (EMH) refers to the production of blood cellular components at sites other than the bone marrow, namely liver, spleen, and lymph nodes. The common sites associated with this condition are the liver, spleen, and lymph nodes whereas the common conditions associated with it are myelofibrosis, myelodysplasia, thalassemia, sickle cell anemia, and polycythemia vera. Case Description: This report describes a young male with thalassemia major, who presented with symptomatic cord compression due to a thoracic intraspinal lesion. It was surgically excised and diagnosed as a case of EMH. The boy recovered fully and has been asymptomatic for six months now. Conclusion: The occurrence of EMH in the thoracic spine is uncommon, whereas symptomatic cord compression as a result of it is even more unusual. Magnetic resonance imaging (MRI) is the diagnostic imaging of choice and treatment options that can be offered are surgical decompression, radiotherapy, hydroxyurea, and transfusion of packed red blood cells (RBCs).

New-onset refractory status epilepticus (NORSE) is defined as a refractory status epilepticus (SE) in a patient, without a clear acute or active structural, toxic, or metabolic cause, previous active epilepsy, or preexisting relevant neurological disorder. Cryptogenic NORSE cases, often immunotherapy is considered empirically as a favorable response, have been documented in anecdotal case reports. More than half of children with the anti-N-methyl-d-aspartate receptor (NMDAR) encephalitis develop seizures and SE may also occur during the clinical course. But NORSE as a presenting feature of anti-NMDAR encephalitis is extremely rare, as most children present with subacute onset neuropsychiatric and extrapyramidal features. We are describing one such case in an adolescent girl with anti-NMDAR encephalitis, in whom even intravenous anesthetic infusion and first-line immunotherapy including corticosteroid and IVIG were insufficient to achieve seizure control. Super refractory left focal SE in this child resolved after 96 h of injection rituximab, following which intravenous anesthetics could be tapered and child survived with only mild functional limitation on follow-up at 6 months. In children with cryptogenic NORSE, the clinicians need to rule out the cerebrospinal fluid anti-NMDAR antibody. Rituximab is one of the most promising second-line immunotherapy options in children with anti-NMDAR encephalitis for achieving seizure control and inducing long-term remission.

Background: Brun’s syndrome is a phenomenon characterized by sudden onset of severe headache, vomiting associated to a vestibular syndrome triggered by an abrupt movement of the head. Case Presentation: We present a case of a 12-year-old female patient with headache, vertigo, and vomiting; magnetic resonance imaging (MRI) was suggestive of a cystic intraventricular mass in the frontal horn of the left lateral ventricle. The patient underwent endoscopic exploration for the excision of cyst with complete postoperative recovery and histopathology suggestive of intraventricular neurocysticercosis. Discussion: Brun’s syndrome is caused by a mobile deformable intraventricular mass leading to an episodic obstructive hydrocephalus resulting from an intermittent or positional CSF obstruction with elevation of intracranial pressure due to the ball valve mechanism. Treatment is mainly surgical, preferably by the neuroendoscopic technique as it has an advantage of performing septostomies and third ventriculostomies in addition to cyst removal, making this procedure practical for most cases of ventricular cysticercosis even in emergencies.

Non-functioning pituitary macroadenomas are often detected after a long latency period, with symptoms due to compression of adjacent structures (headache, visual field abnormality) and hyposecretion of pituitary hormones. Irrespective of endocrinal disturbances, these patients sometimes demonstrate mood abnormalities, cognitive deterioration, and psychotic symptoms, in such cases usually other symptoms prevail in the clinical picture. Only rare anecdotal case reports are available in which isolated neuropsychiatric or cognitive symptoms were the presenting features of pituitary adenomas. We report a 17-year-old boy with non-functioning pituitary macroadenoma, who presented with depressive symptoms for 6 months, along with predominantly mood-congruent psychotic features and anterograde memory impairment. On subsequent evaluation, he was found to have subclinical abnormalities in visual field testing. His endocrinological and other ancillary investigations were normal. He partially responded to multiple antidepressants and is currently being planned for surgical intervention. Hence, clinicians need to perform neuroimaging in cases with depressive symptoms, when the course is atypical, unsatisfactory response to multiple antidepressants, prominent psychotic/memory-related symptoms to rule out secondary causes. In such cases, pituitary adenomas should also be considered as one of the clinical differentials.

Mitochondrial disorders (MIDs) are frequently multisystemic in nature and cause significant morbidity and mortality. Accurate assessment of mitochondrial disease prevalence has been difficult in the past. Primary MIDs are due to mutations in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA)-located genes. Here we report cases of two siblings who presented to the pediatric emergency department with status epilepticus. Initially, the elder sibling was treated for metabolic encephalopathy and viral encephalitis, during his admission to the hospital. On treatment with multiple antiepileptic drugs, the status epilepticus subsided. A provisional diagnosis of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes was made. Magnetic resonance imaging showed diffusion restriction in the left temporal lobe, insular cortex, and left lentiform nucleus, which completely resolved on follow-up after 1 month. His sudden demise in May 2019 due to status epilepticus, and a similar case presentation in his younger sibling, prompted us to do a genetic analysis test. The exome sequence revealed FASTKD2 mutation, a rare variant. This case report helps in increasing the awareness among the clinicians about the clinical presentation of FASTKD2 mutation case.

Epilepsy of infancy with migrating focal seizures (EIMFS) is a rare devastating infantile epileptic encephalopathy that is characterized by a unique electroencephalopgraphy (EEG) signature of multifocal simultaneous seizures. Although no definite etiology is understood for EIMFS, mutations in certain ion channels, are implicated. Similarly, phenylalanyl-tRNA synthetase 2 (FARS2) deficiency is a rare, autosomal recessive disorder of dysfunctional mitochondrial translation causing refractory seizures, lactic acidosis, and developmental regression with a variety of EEG findings. However, an EIMFS-like pattern on EEG in FARS2 deficiency has only recently been reported once. Herein, we describe a seven-week-old male with seizures where whole exome sequencing (WES) revealed pathogenic FARS2 variants and an EIMFS pattern on EEG. This case provides an insight on a novel genetic mechanism for EIMFS. We encourage early consideration of WES when EIMFS is detected to evaluate for FARS2 deficiency, especially in the setting of profound lactic acidosis.

Anti-N-methyl-D-aspartate-receptor (A-NMDAR) encephalitis is the most common type of autoimmune encephalitis in the pediatric age group. It is known to be triggered by viral infections such as herpes simplex infections. However, A-NMDAR encephalitis with HIV infection is a very rare event, with cases reported mostly in adults. The current report is of a previously healthy child who presented with recurrent vomiting, irritability, visual impairment, and new onset complex partial seizures and right somatosensory seizures with generalization occurring in clusters. Over a period of 3 weeks, he developed rapidly progressive bilateral painless visual loss, visual hallucinations, and behavioral changes. Brain magnetic resonance imaging (MRI) showed predominantly cortical symmetrical T2/FLAIR hyperintense signal change in parieto-occipito-temporal regions. The serum and cerebrospinal fluid were strongly positive for anti-NMDAR antibodies, and he also tested positive for HIV-1 antibodies acquired by vertical transmission. The patient and mother tested positive for HIV antibodies for the first time. Repeat MRI revealed gliosis in the parieto-occipito-temporal regions, and hippocampi showed volume loss and T2/FLAIR hyperintense signal change in the posterior thalami with patchy hyperintensities in the right putamen. The seizures subsided with immunomodulation along with anti-epileptic drugs, but he had residual cortical visual impairment on follow-up. This is the first report of A-NMDAR encephalitis presenting as a harbinger of HIV infection in a child. This calls for testing for A-NMDAR antibodies in children with HIV infection presenting with neurological or neuropsychiatric manifestations.

The tracheal tube (TT) kink during the intraoperative period is commonly observed and is worrisome once the positioning is done during neurosurgical procedures. The complications related to tube kink are more in the prone position and the mechanism of this with the neck in flexion has not been explained anywhere. We have made an attempt to elucidate the probable mechanism of this TT kink by using SOLIDWORKS 2020 {3D Computer assisted design (CAD) design software} and the precautions that can be taken to prevent perioperative catastrophe by describing a case of a pediatric patient undergoing a neurosurgical procedure while in the prone position.

Introduction: Holoprosencephaly (HPE) is a central nervous system malformation defined by incomplete separation of the prosencephalon in two hemispheres and determines a broad spectrum of clinical presentations based on extension of non-separation. Case Presentation: A 1 year and 8 months’ old girl with semilobar HPE and 18p deletion syndrome was admitted to our hospital due to viral bronchiolitis. During hospitalization, she started generalized choreic movements, with face dyskinesia and without any identified aggravating factors. Haloperidol, clonazepam, and valproic acid did not achieve an attenuation of the movement disorder. Significant symptom relief was obtained with the use of trihexyphenidyl, with reduced amplitude and frequency of movements, but hyperthermia compromised its use. Control of chorea with no important side effects was only achieved after the introduction of carbamazepine. Discussion: Despite significant morbidity, there are few cases described in the literature of chorea and movement disorders in HPE and no effective treatment strategies described. Carbamazepine is an antiepileptic drug that stabilizes voltage-gated sodium channels and is the most effective treatment for paroxysmal kinesigenic dyskinesia. Although it has been used successfully in the treatment of different movement disorders, few therapeutic trials have been reported. The mechanism by which carbamazepine alleviates chorea is still unknown but may be justified through the blocking of post-synaptic dopamine receptors and stimulation of cholinergic pathways.

Pineal glioblastomas (GBMs) are extremely rare tumors. Herein we will present a pediatric patient with GBM located in pineal region who was admitted with the symptoms of increased intracranial pressure and treated with surgical resection and radiotherapy. Introduction: Pineal region tumors are extremely rare accounting for less than 1% of all brain tumors. The most common type of pineal region tumors is germ cell tumor, followed by pineal parenchymal tumors, gliomas, atypical tumors, and the others. Case Report: A 5-year-old girl was admitted with complaints of headache, dizziness, imbalance in walking, and impaired vision for 1 month. Her neurological examination revealed a tendency to sleep, anisocoric pupillae, mesh eye pupil, dilated lateral gaze paralysis, and left hemiparasia (4/5 muscle strength). In magnetic resonance imaging, a mass was observed in the pineal region that infiltrates the right thalamus and right superior peduncle, isointense and hyperintense in T1 sections, hyperintense in T2 sections, having centrally contrasted areas in post-contrast sections. Due to the presence of evident hydrocephalus, a ventricular shunt was inserted and then through supracerebellar to infratentorial approach the lesion was removed subtotally. The histopathological diagnosis was GBM. GBMs in the pineal region are extremely rare tumors carrying poor prognosis. The patients are generally presented with the signs and symptoms of increased intracranial pressure. GBMs should be kept in mind in differential diagnosis of tumors in the pineal region.

Spontaneously dissecting posterior cerebral artery (PCA) aneurysm in the pediatric age group is a rare entity. We discuss a child with a resolution of the aneurysm due to spontaneous thrombosis in the PCA.

Introduction: Herpes simplex encephalitis (HSE) is mainly caused by herpes simplex virus-1 infection (HSV-1). Herpes simplex virus-2 (HSV-2) infection is rare except in neonates or the immune-compromised. Cranial neuritis is rarely reported in association with HSE. This case study in an eleven-month-old followed by a literature review on cranial neuritis in HSE in children is presented due to the rarity of both situations. Case Report: An eleven-month old otherwise healthy infant presented with encephalitis due to HSV-2 infection which was complicated with dysautonomia manifesting as blood pressure fluctuations and tachycardia, and cranial neuritis manifesting as unilateral ptosis and palatal palsy. The clinical presentation of brain stem encephalitis was confirmed by the Magnetic Resonance Imaging findings of hyperintense foci and contrast enhancement in the medulla oblongata. Following treatment with acyclovir, he made a complete recovery. He did not have any clinical or laboratorial evidence suggestive of immune deficiency. Conclusion: HSV-2 infection can occur beyond the neonatal age group even in the absence of immune compromise. The brainstem encephalitis manifesting as cranial neuritis and autonomic dysfunction made a complete recovery.

Association of Guillain-Barre Syndrome (GBS) with SARS COV 2 infection has been found often in adults and elderly patients. However, this manifestation is rarely noted in children, only three pediatric patients have been reported in the literature globally. In this report, we describe an 8-year-old child who was admitted with an acute onset symmetrical quadriparesis. He had a history of SARI (fever, cough, and vomiting) 20 days prior to the admission. He was confirmed GBS by clinical assessment, CSF albuminocytological dissociation, and nerve conduction study. SARS COV 2 infectivity was confirmed by RTPCR in both child and mother. The course of the illness strongly suggests an association between the GBS and SARS COV 2 infection in this case.

Rathke cleft cysts are benign lesions of the sellar and suprasellar region. Extrasellar intrasphenoidal Rathke cleft cysts are rare with only one case reported in pediatric age group. The presenting complaints described include headache and diplopia. We report a case of intrasphenoidal Rathke cleft cyst in a 15-year-old girl who presented with headache and visual disturbances. Neuroimaging showed an expansile cystic lesion involving the sphenoid sinus with mass effect over the pituitary and optic chiasma. Endoscopic decompression of the cystic lesion was done and histopathology of the cyst wall revealed it to be Rathke cleft cyst. Follow-up MRI showed total resection of the cystic lesion with residual partial left optic nerve atrophy.

Meningiomas are frequent in adults but rare in children, though they are not uncommon. They are known to occur in the pediatric population in all age groups. In children, meningiomas are usually known to be large, cystic, and even aggressive. Among them, skull base meningiomas constitute a distinct entity. Meningiomas arising from the skull base in those younger than the age of two years are rarely reported in literature. We report one such skull base meningioma, involving the middle and posterior cranial fossa, in a child of one year and eight months. The challenges associated in its diagnosis and management are presented.