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While telemedicine has shown promise for diagnosis and treatment, its integration into specialised clinics and mainstream healthcare is slow. A study at Sultan Qaboos University Hospital, Oman, investigated parental perceptions of virtual clinics and telemedicine experiences among parents of children with neurodevelopmental disorders (NDD) conducted from January 2021 to January 2022; the cross-sectional study involved 130 participants. The study revealed that 70% of participants were male, and the mean age of the children was 6.1 ± 0.26 years. Regarding telemedicine awareness, 53% of respondents were informed, yet encountered obstacles such as poor internet service and lack of awareness. Despite challenges, 46% of respondents viewed telemedicine positively. Parents showed significant differences in their perception of virtual interviews based on interview purpose (P = 0.034), clinic type (P

Abstract Background NAXE‐encephalopathy or early‐onset progressive encephalopathy with brain edema and/or leukoencephalopathy‐1 (PEBEL‐1) and NAXD‐encephalopathy (PEBEL‐2) have been described recently as mitochondrial disorders causing psychomotor regression, hypotonia, ataxia, quadriparesis, ophthalmoparesis, respiratory insufficiency, encephalopathy, and seizures with the onset being usually within the first three years of life. It usually leads to rapid disease progression and death in early childhood. Anecdotal reports suggest that niacin, through its role in nicotinamide adenine dinucleotinde (NAD) de novo synthesis, corrects biochemical derangement, and slows down disease progression. Reports so far have supported this observation. Methods We describe a patient with a confirmed PEBEL‐1 diagnosis and report his clinical response to niacin therapy. Moreover, we systematically searched the literature for PEBEL‐1 and PEBEL‐2 patients treated with niacin and details about response to treatment and clinical data were reviewed. Furthermore, we are describing off‐label use of a COX2 inhibitor to treat niacin‐related urticaria in NAXE‐encephalopathy. Results So far, seven patients with PEBEL‐1 and PEBEL‐2 treated with niacin were reported, and all patients showed a good response for therapy or stabilization of symptoms. We report a patient exhibiting PEBEL‐1 with an unfavorable outcome despite showing initial stabilization and receiving the highest dose of niacin reported to date. Niacin therapy failed to halt disease progression or attain stabilization of the disease in this patient. Conclusion Despite previous positive results for niacin supplementation in patients with PEBEL‐1 and PEBEL‐2, this is the first report of a patient with PEBEL‐1 who deteriorated to fatal outcome despite being started on the highest dose of niacin therapy reported to date.

Summary: Background: NOTCH3 encodes a transmembrane receptor critical for vascular smooth muscle cell function. NOTCH3 variants are the leading cause of hereditary cerebral small vessel disease (SVD). While monoallelic cysteine-involving missense variants in NOTCH3 are well-studied in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), patients with biallelic variants in NOTCH3 are extremely rare and not well characterised. Methods: In this study, we present clinical and genetic data from 25 patients with biallelic NOTCH3 variants and conduct a literature review of another 25 cases (50 patients in total). Brain magnetic resonance imaging (MRI) were analysed by expert neuroradiologists to better understand the phenotype associated with biallelic NOTCH3 variants. Findings: Our systematic analyses verified distinct genotype-phenotype correlations for the two types of biallelic variants in NOTCH3. Biallelic loss-of-function variants (26 patients) lead to a neurodevelopmental disorder characterised by spasticity, childhood-onset stroke, and periatrial white matter volume loss resembling periventricular leukomalacia. Conversely, patients with biallelic cysteine-involving missense variants (24 patients) fall within CADASIL spectrum phenotype with early adulthood onset stroke, dementia, and deep white matter lesions without significant volume loss. White matter lesion volume is comparable between patients with biallelic cysteine-involving missense variants and individuals with CADASIL. Notably, monoallelic carriers of loss-of-function variants are predominantly asymptomatic, with only a few cases reporting nonspecific headaches. Interpretation: We propose a NOTCH3-SVD classification depending on dosage and variant type. This study not only expands our knowledge of biallelic NOTCH3 variants but also provides valuable insight into the underlying mechanisms of the disease, contributing to a more comprehensive understanding of NOTCH3-related SVD. Funding: The Wellcome Trust, the MRC.

Neurofibromatosis type 1 (NF1) is a complex multisystem genetic disorder that requires long-term, age-specific monitoring and multidisciplinary care. NF1 symptom burden can significantly affect the quality of life and impose a substantial economic burden on patients and their families. The approval and widespread availability of mitogen-activated protein kinase (MEK) inhibitors such as selumetinib for NF1-related plexiform neurofibromas have revolutionized the standard of care for patients with NF1, however their effective utilization hinges on early recognition of NF1. We present a consensus manuscript describing the challenges observed in the Arabian Gulf Cooperation Council (GCC) for diagnosing and managing NF1. Experts from the GCC also present recommendations for the early recognition and management of NF1 and its complications. A referral pathway that can play a crucial role in helping primary healthcare providers refer their patients to experts is also proposed. Increasing the availability and accessibility of genetic testing at an affordable cost and optimizing personalized NF1 care are essential for NF1 management. Developing regional guidelines for NF1 management and establishing NF1 centers of excellence may facilitate better care and outcomes for patients with NF1 in the GCC region.

Objectives: There is a dearth of research regarding the motivations and experiences of Omani nationals who travel abroad for medical treatment, especially for neurological diseases. The primary objective was to examine and draw comparisons between Omani adults and children with neurological disorders who pursued medical treatment abroad after being evaluated by local specialists. The study also aimed to gain insights into these patients’ motivations and experiences. A related objective was to explore the sociocultural factors and family dynamics that shape the attitudes towards illness and treatment seeking. Methods: In this cross-sectional study, Omani patients treated at a major tertiary hospital in Muscat for neurological disorders and subsequently traveled overseas for treatment were identified and administered a structured questionnaire. Results: The participants were 116 Omani nationals (62 children and 54 adults) with neurological disorders, diagnosed predominantly with epilepsy (71.6%) followed by developmental delay, muscular dystrophy, and encephalopathy. Only 19.8% of patients received government sponsorship. The majority (69.8%) followed the recommendations of family members. Most (63.8%) participants reported positive outcomes after treatment abroad, though 4.3% developed complications and 5.2% acquired nosocomial infections. Most (83.6%) participants opined that the treatment they received overseas was comparable to what they would have received in Oman. There were no significant differences between children and adults in most of these aspects. Conclusions: Public awareness should be increased regarding the pros and cons of medical tourism. Patients must be made aware of the advanced treatment facilities available locally. Efforts should be made to enhance patient outcomes and satisfaction by adopting more efficient and patient-friendly processes.

Abstract Background In metabolic stress, the cytosolic phosphoenolpyruvate carboxykinase (PEPCK-C) enzyme is involved in energy production through the gluconeogenesis pathway. PEPCK-C deficiency is a rare childhood-onset autosomal recessive metabolic disease caused by PCK1 genetic defects. Previous studies showed a broad clinical spectrum ranging from asymptomatic to recurrent hypoglycemia with/without lactic acidosis, encephalopathy, seizures, and liver failure. Results In this article, we discuss the occurrence of PEPCK-C deficiency in four families from the United Arab Emirates and Oman. All patients presented with unexplained hypoglycemia as a common feature. Two out of the seven patients presented with episodes of encephalopathy that resulted in seizures and neuroregression leading to global developmental delay and one patient had a neonatal presentation. Observed biochemical abnormalities include elevated lactate, transaminases, and tricarboxylic acid cycle metabolites in most patients. Elevated creatine kinase was documented in two patients. Whole exome sequencing revealed two novel (c.574T > C, and c.1268 C > T) and a previously reported splice site (c.961 + 1G > A) PCK1 variant in the affected families. Conclusion Patients become vulnerable during intercurrent illness; thus, prevention and prompt reversal of a catabolic state are crucial to avoid irreversible brain damage. This report will help to expand the clinical understanding of this rare disease and recommends screening for PEPCK-C deficiency in unexplained hypoglycemia.

Commonly, herpes simplex virus (HSV) causes infectious encephalitis among children. A neurological relapse after primary HSV encephalitis in the weeks or months after presentation is well recognized. Relapsing symptoms of post-HSV encephalitis can present either as a true relapse or an immune-mediated disorder. A relationship is predicted between immune-mediated disorder and N-methyl-D-aspartate receptor (NMDAR) antibodies. This study presents two cases of patients suffering from anti-NMDAR encephalitis that appeared after treatment for proven HSV encephalitis. The first patient was treated immediately after the presentation as autoimmune encephalitis and had an excellent outcome. The second patient had delayed initiation of treatment and suffered from intractable epilepsy and severe global developmental delay. An important role is played by recognizing anti-NMDAR encephalitis symptoms and its variable presentation for timely diagnosis and quick initiation of treatment for anti-NMDAR encephalitis, thus, improving the outcome for those patients.

Abstract Purpose The study aims to describe the quality of life (QoL) in Omani children with epilepsy at Sultan Qaboos University Hospital, Oman. Methods One hundred and one Omani children, with an age range from 5 to 18 years, diagnosed with epilepsy were enrolled in the study over 3 months. Descriptive epidemiology was used to characterize QoL in these children. QoL was measured using the PedsQL (4.0) questionnaire, a 23-item child and parent report questionnaire. Analysis of variance (ANOVA) was used to compare mean QoL scores, and agreement between the QoL reports of children and parents was evaluated using Spearman’s rho; while, Multivariate analysis of variance (MANOVA) was performed to determine differences in subscale ratings. Results Factors affecting QoL included family status, income level, social security coverage, type of treatment, seizure frequency, age of onset, and seizure-free duration in years. Children between 5 and 7 years and females, in general, were most affected, as reflected by the overall QoL subscale. Consistency between the children's self-reports and parent proxy reports on the PedsQL™ was moderate to low. Conclusion Omani children with epilepsy have poor QoL, and their psychosocial function is severely affected. Therefore, QoL should be an important outcome measure in managing children with epilepsy rather than just seizure control.

Abstract Global Developmental Delay/Intellectual disability (ID) is the term used to describe various disorders caused by abnormal brain development and characterized by impairments in cognition, communication, behavior, or motor skills. In the past few years, whole-exome sequencing (WES) has been proven to be a powerful, robust, and scalable approach for candidate gene discoveries in consanguineous populations. In this study, we recruited 215 patients affected with ID from 118 Middle Eastern families. Whole-exome sequencing was completed for 188 individuals. The average age at which WES was completed was 8.5 years. Pathogenic or likely pathogenic variants were detected in 32/118 families (27%). Variants of uncertain significance were seen in 33/118 families (28%). The candidate genes with a possible association with ID were detected in 32/118 (27%) with a total number of 64 affected individuals. These genes are novel, were previously reported in a single family, or cause strikingly different phenotypes with a different mode of inheritance. These genes included: AATK, AP1G2, CAMSAP1, CCDC9B, CNTROB, DNAH14, DNAJB4, DRG1, DTNBP1, EDRF1, EEF1D, EXOC8, EXOSC4, FARSB, FBXO22, FILIP1, INPP4A, P2RX7, PRDM13, PTRHD1, SCN10A, SCYL2, SMG8, SUPV3L1, TACC2, THUMPD1, XPR1, ZFYVE28. During the 5 years of the study and through gene matching databases, several of these genes have now been confirmed as causative of ID. In conclusion, understanding the causes of ID will help understand biological mechanisms, provide precise counseling for affected families, and aid in primary prevention.

Distal renal tubular acidosis (RTA) is a common cause of renal stones and nephrocalcinosis in children. Distal RTA can be either acquired or congenital because of a genetic defect. Tuberous sclerosis complex is an autosomal dominant inherited neurocutaneous syndrome with variable renal involvement. We describe a case of a six-year-old boy with tuberous sclerosis complex who developed distal RTA and renal stones.

Pediatric migraine (PM) is one of the most prevalent neurological disorders in children. It has numerous variants and the sufferers often present to emergency departments with a wide variety of signs and symptoms that make diagnosis difficult. The trend in diagnosing and managing PM cases remain suboptimal despite the comprehensive diagnostic criteria and various therapeutic options. In this review, we discuss PM, provide an approach to the diagnosis, and describe the various available management options. However, the diagnosis of migraine is based on history and physical examination; no specific diagnostic test is available. The main management aspects are acute pain relief, prevention, and identifying triggering factors.

Abstract Background Congenital absence of the internal carotid artery (ICA) is a highly infrequent congenital incidence and occurs in less than 0.01% of the population; bilateral absence is exceedingly rare, diagnosed below 10% of the unilateral absence of the ICA. Sickle cell disease (SCD) is a serious disorder and carries a high risk of stroke. Case presentation We present a five-year-old child with SCD who experienced an ischemic stroke episode with epileptic seizures. Neuroimaging revealed the agenesis of both ICAs. The frequency, embryology, and collateral pathway of the vascular anomaly as the clinical presentation, of this rare hematologic disease, are discussed. Conclusions Sickle cell disease (SCD) carries a high risk of stroke. Congenital absence of ICA occurs in less than 0.01% of the population; bilateral absence is diagnosed below 10% of the unilateral absence of the ICA.

IntroductionCyclosporine A-associated neurotoxicity has been reported in up to 40% of patients and its wide range of neurological adverse effects have been reported, ranging from mild tremors to fatal leukoencephalopathy. Extrapyramidal (EP) neurotoxicity is a rare manifestation of cyclosporine. Cyclosporine-induced extrapyramidal syndrome remains a rare adverse reaction.Design/methodsA database search was performed for studies in patients from all age groups. We found a total of 10 articles reporting EP as an adverse effect of cyclosporine A. A total of 16 patients were found, and a thorough review of these patients was performed. A comparison of patients was performed to highlight common clinical presentations, investigations during the symptomatic phase, and prognosis. In addition, we describe an 8-year-old boy who developed cyclosporine-related extrapyramidal signs on day 60 post-hematopoietic stem cell transplantation for beta-thalassemia.ConclusionCyclosporine A can induce neurotoxicity resulting in diverse symptoms. Signs of EP are rare manifestations of cyclosporine neurotoxicity and should be considered when evaluating post-transplant recipients of cyclosporine when they are present with any EP symptoms. Discontinuation of cyclosporine results in good recovery in most patients.

Objective: Studies from the past decades have shown that mood disorders are common during childhood and adolescence. This study aimed to estimate the point prevalence of depression in Omani children and adolescents during social distancing and lockdown and identify the risk factors for developing depressive symptoms during the COVID-19 pandemic.Methods: This is an analytical cross-sectional study conducted in May 2020, in which all young Omani people attending a mainstream school aged 8–18 years old were eligible to participate. Parents were asked to complete the online survey, which consisted of the parent version of the Mood and Feelings Questionnaire (MFQ-Parent). In addition, the option of a self-reported version (MFQ-Self) was provided in cases where children preferred to fill out the survey themselves. Logistic regression was used to identify the contributing socio-demographic variables associated with depressive symptoms.Results: A total of 445 participants completed the MFQ, out of which 72.1% were parents, and 27.9% were children, adolescents and young people. 13.9% of children and adolescents exhibited depressive symptoms during the COVID-19 pandemic in Oman. The presence of depressive symptoms was associated with increased food intake (OR 1.81, 95% CI 1.00–3.29, p-value

MEDICAL IMAGE

Myasthaenia gravis (MG) is an autoimmune disease involving the postsynaptic receptors in the neuromuscular junction. The condition is characterised by fatigable weakness of the skeletal muscles and is uncommon in children. Acetylcholinesterase inhibitors and immune-modifying medications are usually considered the mainstay of treatment. However, these medications have to be given on a lifelong basis so that patients remain in remission; furthermore, drug-related side-effects can have a major impact on quality of life. We report two paediatric cases who were treated for MG at the Sultan Qaboos University Hospital, Muscat, Oman, in 2007 and 2008, respectively. Rituximab was eventually administered to each patient after their condition failed to improve despite several years of standard treatment with acetylcholinesterase inhibitors and immune-modifying medications. Overall, rituximab resulted in complete remission in one case and significant clinical improvement in the other case. Keywords: Myasthenia Gravis; Rituximab; Children; Cholinergic Receptors; Case Report; Oman.

Tuberous sclerosis complex (TSC) is a multisystem neurocutaneous disorder inherited in an autosomal dominant manner and characterised by benign tumours in the brain and other vital organs such as the heart, eyes, kidneys, skin and lungs. Links between autism spectrum disorder (ASD) and TSC have been postulated for many decades, with TSC considered to be one of the main syndromic causes of ASD; however, precise confirmation of a relationship between these two disorders required validated diagnostic tools. Fortunately, accurate evaluation of this relationship is now possible with standardised criteria for ASD diagnosis. We report three children who presented to the Sultan Qaboos University Hospital, Muscat, Oman, between 2014 and 2015 with ASD and TSC. These cases demonstrate the spectrum of neuropsychiatric involvement in TSC and highlight the importance of screening children with TSC for ASD features in order to encourage the early enrolment of these children in educational and rehabilitation programmes.

Spinal muscular atrophy (SMA) is a genetic lower motor neuron disease. It usually involves all of the skeletal muscles innervated by the anterior horn cells of the spinal cord. In rare cases, there is also localised involvement of the spinal cord. We report a 10-year-old boy who presented to the Sultan Qaboos University Hospital, Muscat, Oman, in 2015 with muscle weakness restricted to the lower limbs. The presence of a homozygous deletion within the survival of motor neuron 1 gene confirmed the diagnosis of SMA. To the best of the authors’ knowledge, this is the first report of an Omani patient with segmental SMA involving only the lower limbs. Treatment for this rare and relatively benign form of SMA is symptomatic and includes physiotherapy.

Objectives: Rigidity of the spine is common in adults but is rarely observed in children. The aim of this study was to report on rigid spine syndrome (RSS) among children in Oman. Methods: Data on children diagnosed with RSS were collected consecutively at presentation between 1996 and 2014 at the Sultan Qaboos University Hospital (SQUH) in Muscat, Oman. A diagnosis of RSS was based on the patient’s history, clinical examination, biochemical investigations, electrophysiological findings, neuro-imaging and muscle biopsy. Atrophy of the paraspinal muscles, particularly the erector spinae, was the diagnostic feature; this was noted using magnetic resonance imaging of the spine. Children with disease onset in the paraspinal muscles were labelled as having primary RSS or rigid spinal muscular dystrophy. Secondary RSS was classified as RSS due to the late involvement of other muscle diseases. Results: Over the 18-year period, 12 children were included in the study, with a male-to-female ratio of 9:3. A total of 10 children were found to have primary RSS or rigid spinal muscular dystrophy syndrome while two had secondary RSS. Onset of the disease ranged from birth to 18 months of age. A family history was noted, with two siblings from one family and three siblings from another (n = 5). On examination, children with primary RSS had typical features of severe spine rigidity at onset, with the rest of the neurological examination being normal. Conclusion: RSS is a rare disease with only 12 reported cases found at SQUH during the study period. Cases of primary RSS should be differentiated from the secondary type.

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Stuve-Wiedemann syndrome (STWS) is a rare disorder characterised by congenital bowing of the long bones, contractures of the joints, neonatal onset of respiratory distress, sucking and swallowing difficulties, dysautonomia presenting as episodic hyperthermia, and usually an early death. Three siblings from a consanguineous marriage presented with similar clinical features over 16 years. STWS was established with their last child at the beginning of 2012. All the children exhibited the onset of STWS in the neonatal period with fever and generalised hypotonia. Examinations of all the infants revealed camptodactyly, micrognathia, bent long bones with wide metaphyses, and hypotonia. Only the second affected child had myotonia, demonstrated by electromyography. Unusual pyrexia as a presenting feature in this syndrome needs early recognition so that extensive and elaborate investigations can be avoided. The disorder is usually caused by a mutation in the leukaemia inhibitory factor receptor gene.

Background: Septo-optic dysplasia (SOD), also known as de-Morsier′s syndrome, is a rare disorder characterized by any combination of optic nerve hypoplasia (ONH), pituitary gland hypoplasia, and midline abnormalities of the brain including absence of septum pellucidum and corpus callosum dysgenesis. It is typically diagnosed in infancy and has a variable presentation that includes visual, neurologic, and/or hypothalamic-pituitary endocrine deficits. Purpose: To demonstrate the ophthalmic, endocrine, and neurologic spectrum of SOD in five Omani children and address the crucial role of high-resolution neuroimaging for its early and accurate diagnosis. Materials and Methods: A retrospective chart review was performed in 2010 of all children in the pediatric ophthalmology database of Sultan Qaboos University Hospital (SQUH) who were diagnosed to have ONH. All relevant demographic, ophthalmic, neurologic, endocrine, and neuro-radiological manifestations were recorded in a data collection form. All previous neuroimaging results were reviewed by a neuro-radiologist. Results: Five patients (four males, one female) with the diagnosis of ONH were included in the study. They presented during the period 1998-2008. All patients were born at term, with normal birth weights to healthy mothers with insignificant antenatal history. Age at presentation ranged from three months to one year. Manifestations at presentation included severe visual impairment (5/5), neonatal hypoglycemia (3/5), seizure disorder (2/5), and failure to thrive (4/5). ONH was bilateral in 3/5 patients and unilateral in (2/5). Brain and orbit imaging revealed varying anomalies in all patients. These included absent septum pellucidum (3/5), severe corpus callosum agenesis (1/5), ectopic pituitary (5/5), falx cerebri deficiency (1/5), optic nerve hypoplasia (5/5), optic chiasmal hypoplasia (5/5), and olfactory tract hypoplasia (1/5). Endocrine deficits were detected in 4/5 patients (3 with panhypopituitarism, and 1 with growth hormone deficiency) and necessitated replacement therapy. Conclusion: SOD is a clinically heterogeneous disorder with a wide spectrum of ophthalmic, endocrine, and neurologic manifestations. All features might not be present in a single patient. A high consanguinity rate and lack of history of alcohol and drug use were observed in our cohort. Most affected children present first to the pediatrician with failure to thrive. Radiological confirmation of ONH necessitates high-resolution imaging and interpretation by an experienced neuro-radiologist. In our cohort, all patients with ONH had associated optic chiasmal hypoplasia. Early detection and treatment reduces disease-related morbidity, and can be life saving.

Objective: A prospective study was designed to analyze risk factors and clinical features in children with global developmental delay (GDD) at our hospital. No previous data is available on GDD from Oman.Methods: This study was conducted at Sultan Qaboos University Hospital from January 2008 until June 2009. All the children aged 5 years or less, referred with suspected GDD were included in the study. Data was analyzed to determine the underlying etiology. The children with neurodegenerative disease and muscular dystrophy were excluded from the study.Results: One hundred and ten children, 59 males (53.6%) and 51 females (46.4%) were included in the study. The mean age at initial evaluation was 13.29 months. An underlying etiology was determined in 79 (71.8%) children. Perinatal history was associated with significant difference in detection of etiology (p=0.039). Abnormal neurological examination was a significant factor in detection of the underlying etiology. Magnetic resonance imaging (MRI) in 105 children and metabolic screening in 93 children were the most frequently ordered investigations. Abnormal imaging, MRI (p=0.001), CT scan (p=0.036) and metabolic screening (p=0.034) were significantly associated with detection of etiology.Conclusion: Etiology was detected in 71.8% of the children. MRI was the most significant investigation to detect the abnormality.

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We report the case of a 7 year-old Omani girl with tuberous sclerosis (TS), attention deficit hyperactivity disorder (ADHD) and bipolar disorder (BD), at Sultan Qaboos University Hospital (SQUH), Oman. For a year she had been suffering from hyperactivity, aggression, over talkativeness, insomnia, risk-taking behaviour, distractibility, poor attention and seizures. This clinical picture evolved slowly, but was progressive in nature. Before the consultation at her local health centre, she was given four drugs without being properly investigated; she continued to deteriorate. In SQUH, she showed hyperactive-impulsive behaviour, elation, flight of ideas, preoccupation with self and high self-confidence. The physical examination revealed multiple hypomelanotic patches all over the body and a shagreen patch at the sacral area. The electroencephalogram showed generalised epileptic discharges, while brain imaging showed multiple parenchymal calcified foci in both cerebral hemispheres. Other investigations were normal. She was given valproate, and then a psychostimulant, methylphenidate, that controlled her state. Our aim in reporting this case is not only because it is unique, given its rare comorbidity (ADHD, TS and BD), but also to remind our junior colleagues to be alert to the possibility of an underlying neuropathology when performing clinical examinations and investigations of children presenting with neuropsychiatric symptoms.

Incontinentia Pigmenti (IP), (OMIM # 308300), is a rare X-linked dominant condition. It is a multisystemic disease with neuroectodermal findings involving the skin, eyes, hair, nails, teeth, and central nervous system. It is usually lethal in males; the disease has variable expression in an affected female. We report the case of a 6 month old girl who presented at Sultan Qaboos University Hospital, Oman, with neonatal seizures and hypopigemented/hyperpigmented skin lesions. She had multiple ophthalmic abnormalities and neurological manifestations which are discussed in this report.

Purpose: To describe visual loss at presentation in children with pseudotumor cerebri (PTC), and discuss mechanisms of visual loss and distinguishing features of pediatric PTC. Materials and Methods: Two children with papilledema and visual complaints were referred for ophthalmic evaluation. Both patients underwent a detailed ophthalmic work-up. Results: Patient 1, an 8-year-old girl, presented with a 2-week history of headache, vomiting, and visual impairment in both eyes. The child had no previous medical history. Patient 2, a 9-year-old boy, experienced sudden loss of vision in both eyes one week prior to presentation, along with severe headache and vomiting. He had undergone a renal transplantation one year back, and his current medications included cyclosporine A (CsA) and oral prednisolone. Extensive disc swelling, lipid exudation and retinal thickening in the posterior pole were observed in both patients. Lumbar puncture in both showed elevated cerebrospinal fluid pressure. Both were treated with oral acetazolamide. Patient 1 additionally received intravenous methylprednisolone followed by an oral taper. CsA was stopped in patient 2. PTC and papilledema resolved with above measures in both patients, with partial recovery of visual function. Conclusions: PTC in children may have atypical manifestations. Visual acuity may be compromised acutely due to several factors. Patients with PTC and severe visual loss at presentation mandate an aggressive management approach. Use of intravenous steroids may be considered along with acetazolamide. Despite resolution of PTC, sequelae such as optic atrophy or macular scarring may impede eventual visual recovery. Physicians following patients on CsA need to be aware of the possible neuro-ophthalmic complications of the drug.

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The medical records of three children who were entrapped inside vehicles are reviewed and their outcome following the incidents were assessed in this report. The children developed heat stroke following the incidents and survived after several days in coma but with severe cognitive functions impairment. Two of the children were left with hyperactivity and attention deficit, while the third had active epilepsy.Vehicular entrapment heat stroke is one of the preventable brain injuries in children. Several children get entrapped in cars or other vehicles yearly and survivors are left with significant brain damage. The usual cause for brain damage is heat stroke the lesson learned was to never leave children unattended in cars. Therefore, it is essential to double check that doors are locked when leaving children unattended near vehicles.

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