Journal of Pediatric Neurology

Raised intracranial pressure is a feature of cerebral malaria in children living in Africa. We investigated specific clinical optic disc features of papilledema to establish their prognostic significance in this encephalopathy. We developed a classification of acute papilledema and tested it against disease outcome. Kenyan children admitted with severe falciparum malaria (cerebral or impaired consciousness) underwent dilated fundal examination using direct and indirect ophthalmoscopy. Clinical features of the optic disc were systematically recorded and compared to the child's outcome. Poor outcome defined as death or neurological impairment on discharge was used to construct and test a clinical classification of papilledema. Forty-five children were examined (26 cerebral malaria, 17 severe malaria with an impaired conscious level or prostration) of whom seven had a poor outcome (three died, four had residual neurological impairment). Loss of the optic disc cup and marked optic disc elevation were significantly correlated with a poor outcome (P < 0.05). Increasing severity in the proposed classification of acute papilledema was positively correlated with a poor outcome (P < 0.05, chi-square test for trend). Loss of the optic disc cup and marked elevation of the optic disc head appear to be correlated with poor outcome in children with severe malaria whereas the presence of dilated veins suggests a good outcome. The proposed classification of acute papilledema is useful as a prognostic indicator and may be applicable to other encephalopathies with raised intracranial pressure.

Trisomy 21, leading to Down syndrome (DS) is the most common genetic cause of intellectual disability. Approximately 1-13% of children with DS have co-morbid seizures, with infantile spasm being the most frequent type of seizure identified. Although the clinical and electroencephalography findings of infantile spasm are similar between children with DS and typically developing children, there is often a delay in the diagnosis of these seizures in children with DS. We present the case of a male infant with DS, where the diagnosis of infantile spasm was delayed by 5 mo. His case was associated with developmental regression and intractable seizure activity following diagnosis. The case highlights the implications of delayed diagnosis on treatment strategies and developmental outcomes. Keywords: Down syndrome, infantile spasm, delayed diagnosis.

Dandy-Walker syndrome (DWS), or Dandy-Walker complex, is a congenital brain malformation of the posterior fossa, typically resulting in developmental delay and cognitive disability. The co-occurrence of Down syndrome (DS) and DWS is relatively uncommon; thus, its impact on developmental outcomes has not been fully elucidated. Herein, we report a case of a 37-month-old child with DS and DWS, who is functioning at the following age-equivalent: gross motor at a 9-mo level, fine motor 6 mo, expressive language 14 mo, receptive language 9 mo. As such, it is important to determine how the DWS influences developmental outcomes, and appreciate the importance of early interventional therapy.

Neonatal seizures are inherently different from seizures in the child and the adult. The phenotype, often exhibiting electroclinical dissociation, is unique: neonatal seizures can be refractory to antiepileptic drugs otherwise effect for older patients. Recent experimental and human-based research reveals that the mechanism of neonatal seizures, as well as their long-term sequelae on later brain development, appears to involve a large number of age-specific factors. These observations help explain the resistance of neonatal seizures to conventional therapy as well as identify potential areas of risk for later neurocognitive development. Emerging targets from this research may suggest new therapies for this unique population of patients.

Objective This study aimed at evaluating serum S-100B protein levels after convulsions in children experiencing simple febrile convulsions. Material and Methods The study included 30 healthy children as the control group and 30 patients with simple febrile convulsions as the study group. Blood samples were obtained within 2 hours after the patients sustained febrile convulsions. Serum S-100B protein levels of the patients in the study group and the control group were measured using enzyme-linked immunosorbent assay kits. Results There was no statistically significant difference between the groups, when the mean serum S-100B protein levels were compared between patients with febrile convulsions and the control group (p > 0.05). Conclusion Lack of an increase in serum S-100B protein levels of patients with simple febrile convulsion suggests that febrile convulsive seizures do not cause any organ damage.

Here we describe clinical and cytogenetic data on 2-year-old female child with partial trisomy for the distal part of the long arm of chromosome 10 (10q22->qter) and a concomitant monosomy 3(p25->pter) as a result of a maternal balanced reciprocal translocation. Her karyotype was ascertained as 46,XX,der(3)t(3;10)(p25;q22). The father had normal karyotype. The mother had an apparently balanced translocation involving chromosome 3 and 10 [46,XX,t(3;10)(p25;q22)]. This is the second reported case of partial trisomy 10q and partial trisomy 3p. Clinical features of this case and a few published cases will be reviewed briefly.

Dravet syndrome is a severe form of epilepsy and also is called severe myoclonic epilepsy of infancy (SMEI). It appears during the first year of life with frequent febrile seizures, fever related seizures, which is rare beyond the age of 5 years. Children with SMEI typically experience poor development of language, motor skills, hyperactivity, and difficulty in making relationship. Thirty to eighty percent of patients with Dravet syndrome, which is known as classical form of SMEI, suffer from defects in a gene involved in proper function of brain cells. The patient is a 3-years-old girl presenting with a sudden epileptic seizure. She had 2-year history of severe myoclonic epilepsy and developmental delay that was diagnosed as Dravet syndrome. A novel missense substitution in sodium channel alpha subunit type 1 was detected and the novelty of substitution confirmed by molecular analysis in healthy family members as well as control group. As an early diagnosis, the clinical screening procedure used by pediatricians as well as a sodium channel alpha subunit type 1 mutation analysis could help to predict Dravet syndrome before 1 year of age, so the pediatricians could be able to manage clinical work-up properly.

Congenital hypotonia and hypoventilation is a rare association. We report a rare case of a female newborn with poor respiratory drive, ventilator dependency, severe hypotonia, cardiomyopathy, and premature death. Clinical-exome-sequencing revealed SLC25A4-related mitochondrial deoxyribonucleic acid (DNA) depletion syndrome-12A (cardiomyopathic type). This syndrome is apparent at birth and carries a poor prognosis.

The aim of this study was to analyze the various midline structures having preponderance for astrocytoma, their incidence, clinical features, operative approach, prognosis, and outcomes in children. It is a retrospective analysis of 152 cases with midline astrocytic tumors in children admitted between January 1995 and December 2012 in the Department of Neurosurgery at Sanjay Gandhi Postgraduate Institute of Medical sciences Lucknow, India. The mean age of the cases with midline astrocytic tumors was 9.29 ± 4.56 years. Majority of these tumors occurred in the age group of 6 to 10 years (n = 58, 38.16%), with male to female ratio being 1.66:1. Out of 152 cases, tumors located at midline cerebellum constituted majority of the cases (n = 38, 25%) followed by brain stem (n = 28, 18.42%), thalamic region (n = 24, 15.79%), corpus callosum (n = 18, 11.82%), pineal region (n = 12, 7.89%), optic nerve (n = 12, 7.89%), chiasmo-hypothalamic (n = 10, 6.58%), and septum pellucidum astrocytomas (n = 10, 6.58%). Majority of these tumors were of low-grade type (n = 136, 89.47%), and pilocytic astrocytomas were the commonest subtypes. Out of 152 cases, 136 (89.47%) cases had improved outcomes, 8 (5.26%) remained as they were in preoperative state, and mortality was seen in 8 (5.26%) of the cases at 3 to 77 months (mean 26.70 ± 9.70) of follow-up. Midline structures having preponderance for astrocytomas were midline cerebellum, brain stem, thalamus, corpus callosum, pineal region, optic nerve, chiasmo-hypothalamic, and septum pellucidum. Cerebellum was the commonest site. Most of these astrocytomas were of low grade with pilocytic astrocytoma being the commonest subtype. With meticulous presurgical planning, most of these tumors have good outcome with significant reduction in mortality and morbidity.

In here, we describe a case of primary amenorrhea in the setting of chronic hydrocephalus caused by a posterior fossa ependymoma. A 17-year-old female with primary amenorrhea presented to University-affiliated teaching hospital. Hormonal studies were all normal. Cranial magnetic resonance imaging revealed chronic hydrocephalus with a 4 cm brain lesion that was determined to be an ependymoma. After surgical resection, the patient had normal menstrual cycles. Primary amenorrhea in association with hydrocephalus is usually due to hypothalamic hypogonadism. We report a case of an adolescent female with normal gonadotropin levels and chronic hydrocephalus who presented with primary amenorrhea. Even in the presence of normal hormonal studies and withdrawal bleeding after a progestational challenge, a head magnetic resonance imaging should be performed in all females who do not have hypergonadotropic amenorrhea.

Glucose transporter deficiency syndrome type 1 (Glut-1 DS) is a rare disease of abnormal glucose transport. Diagnosis is most often made in infancy with the presentation of epileptic seizures, gross motor delays, and microcephaly. We report a case of a 17-year-old male seen in our outpatient clinic with a life-long history of developmental delays and seizures. He began having apneic episodes with limb jerking at approximately 4 months of age. Several antiepileptics were tried before the frequency of seizures decreased in early adolescence. Developmental delays became apparent in infancy. The proband's chief complaint at the time of presentation was abrupt episodes of confusion, fatigue, and ataxia, with body stiffening, occurring monthly, sometimes weekly, with minimal recollection of the event. At the time of his current evaluation, a review of laboratory findings revealed a low cerebrospinal fluid glucose level obtained during an emergency room evaluation for a headache several years prior. This finding raised concern for Glut-1 DS. Subsequent molecular analysis confirmed the diagnosis. While rare, this case emphasizes the importance of considering Glut-1 DS in the differential of seizures and cognitive delays, even in older children. Treatment with a ketogenic diet, despite at a later age of introduction, may still be effective in ameliorating symptoms.

Retropharyngeal neurofibromas are rarely described in the literature and are commonly associated with severe airway-related symptoms. We report a unique case of a large retropharyngeal plexiform neurofibroma in an asymptomatic 17-year-old male patient. This patient was asymptomatic and presented for lower lip edema secondary to an insect bite. Head and neck imaging demonstrated an extensive retropharyngeal neurofibroma measuring 5.7 cm × 2.2 cm × 6.8 cm. Because of extensive involvement of cervical vasculature, the lesion was not resected in our institution and his care was referred to a large neurofibromatosis type I center.

We report a case of an 18-month-old child who presented with motor predominant delay in attaining developmental milestones and early onset fatiguable weakness with ptosis and ophthalmoparesis. This ptosis and ophthalmoparesis typically worsened with progression of the day. Examination showed proximal weakness with preserved muscle stretch reflexes. Electrophysiology showed characteristic decrement on repetitive nerve stimulation test that localized to disorders of the neuromuscular junction. Next-generation sequencing showed a pathogenic variant of CHRNE that was responsible for congenital myasthenic syndrome. Such variants show increased improvement with salbutamol in addition to anticholinesterase inhibitors. Hence, the child was started on pyridostigmine, and the plan was to add on salbutamol on follow-up if optimal improvement does not occur.

Islamic psychology, the science of the nafs (“self” or “psyche”), is the medical and philosophical study of the psyche from an Islamic perspective and addresses topics in psychology, neuroscience, philosophy of mind, and psychiatry as well as psychosomatic medicine. There are many studies of many early Muslim and non-Muslim scholars on Islamic psychology. In this article, we present Herbert George Wells' (1866–1946) opinions about Islamic psychology to attract attention to the importance of Islamic psychology on human and community health. Wells wrote the following in his books: Islam was full of the spirit of kindliness, generosity, and brotherhood; it was a simple and understandable religion. Islam appeals to no revelation, no authoritative teaching, and no mystery. The statement it makes is, it declares, a mere statement of what we may all perceive and experience. Islam prevailed because it was the best social and political order the times could offer. It was the broadest, freshest, and cleanest political idea that had yet come into actual activity in the world, and it offered better terms than any other to the mass of mankind. Islam swept for a time across the Mediterranean scene, with very considerable reactions upon medieval science and thought. Islam was never saddled with a creed. With the very name “Islam” (submission to Allah), there is no quarrel for those who hold the new faith. Based on the studies of early Eastern and Western scholars, we strongly believe that Islamic psychology should be integrated with modern medical practices. For this purpose, we think that health professionals should be informed on Islamic psychology and it should raise awareness about the importance of Islamic psychology on human and community health.

Pediatric inflammatory multisystem syndrome temporally associated with coronavirus disease 2019 (COVID-19) is an emerging rare disease reported in children 4 to 6 weeks after a usually asymptomatic COVID-19 infection. Though it usually presents as a Kawasaki-like illness or toxic shock syndrome, other multisystem presentations have been reported. Presentation as hemiplegia, however, is rare. Here, we describe a child with acute hemiplegia and rapidly progressive shock, who responded dramatically to steroids and intravenous immunoglobulin and experienced a full recovery. By reporting this case, we wish to add to the literature this atypical presentation of this novel disease, and highlight the importance of quickly diagnosing and treating this life-threatening disease.

Coronavirus disease (COVID-19) is caused by a novel severe acute respiratory syndrome coronavirus 2 virus which primarily targets the lungs. However, the central nervous system (CNS) and peripheral nervous system involvement due to COVID-19, however, has been reported as early as the cases of respiratory system involvement. In addition, there have been many reports describing neuroimaging features of COVID-19, but data beyond case studies in the pediatric population are still limited, indicating limited CNS involvement. The CNS involvement and complications include, but are not limited to, encephalopathy, meningoencephalitis, ischemic stroke, venous sinus thrombosis, acute necrotizing encephalopathy, acute disseminated encephalomyelitis, posterior reversible encephalopathy syndrome, acute cerebellitis, acute hemorrhagic myelitis, and Guillain–Barré syndrome. In this manuscript, we will discuss the imaging characteristics of some of these entities with a known diagnosis of COVID-19.

Myasthenia gravis (MG) is a rare, long-term neuromuscular disorder that can affect individuals of any age. In Japan, the Omicron variant of coronavirus disease 2019 (COVID-19) began spreading in 2022, and many cases of neurological symptoms caused by the virus have been reported. Although COVID-19 has been reported to exacerbate MG in adults, there are no reports on the effects of COVID-19 on the MG symptoms of pediatric patients. We report the case of a 6-year-old girl with a 3-year history of MG who presented to our hospital with symptom exacerbation after COVID-19 infection. Four days before admission, she developed fever with a runny nose and cough. Three days before admission, she developed severe bilateral blepharoptosis and progressive limb weakness, and 2 days before admission, she was diagnosed with COVID-19 by SARS-CoV-2 antigen test. Physical examination revealed moderate blepharoptosis and mild bilateral upper and lower limb weakness. We diagnosed her with worsening MG due to COVID-19, and she was administered 400 mg/kg intravenous immunoglobulin (IVIG) daily for 5 days with continued oral corticosteroids and tacrolimus. The patient's symptoms improved promptly after admission and, at discharge 7 days after admission, her symptoms had significantly improved. During the 1-month outpatient follow-up period, she remained stable and the anti-acetylcholine receptor (AchR) antibody level was reduced to 14.6 nmol/L (from 18.5 nmol/L on admission). Our case suggests that COVID-19 exacerbates MG in both children and adults.

In parallel to the spread of the novel severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2), there has been the growing recognition that active SARS-CoV-2 infection has the potential to effect both the peripheral and central nervous systems. When it comes to the SARS-CoV-2 vaccine, however, reporting has been more uncertain. As the vaccination rate has risen, we have seen a rise in rare neurological complications thought to be associated with the vaccination including acute transverse myelitis, Guillain–Barre syndrome, optic neuritis, and Tolosa–Hunt syndrome. The Centers for Disease Control and Prevention (CDC) estimates 98 confirmed cases of Guillain–Barre syndrome out of 12.6 million doses. Given the initial age limits of vaccination eligibility, most reports have been limited to the adult population. Here, we report a case of intracranial hypertension (IH), evolving to fulminant IH in a healthy female after receiving the SARS-CoV-2 vaccine. While elevated intracranial pressure has been reported in the context of active SARS-CoV-2 infections and postinfection multisystem inflammatory syndrome (MIS-C), this is the first reported case of pediatric IH after vaccination alone.

Since the onset of the coronavirus disease 2019 pandemic, a variety of neurological manifestations of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) have been reported in patients, of which one of the most concerning is stroke. This review aims to summarize the current literature and evolving understanding of pediatric cerebrovascular complications in the setting of SARS-CoV-2.

Evaluation of acquired demyelinating syndrome (ADS) without diagnostic biomarkers results in diagnostic and therapeutic challenges in pediatric population. Immune-mediated ADS of childhood responds well to steroid and intravenous immunoglobulin (IVIg) and in refractory cases with plasma exchange. Novel coronavirus disease 2019 (COVID-19) coinfection in such cases imposes technical challenges in management. An 11-year-old girl with quadriparesis and loss of vision and a magnetic resonance imaging (MRI) brain showing acute demyelinating encephalomyelitis (ADEM) and cerebrospinal fluid examination being noncontributory responded well with plasma exchange after failing steroid and IVIg is described. Coinfection with COVID-19 mandating personal protection in a temperate country imposed technical challenges in her management.

Neurologic manifestations of severe acute respiratory syndrome coronavirus 2, the virus responsible for novel coronavirus 2019 (COVID-19) infection, have been frequently reported in the adult population but remain relatively rare in pediatric patients, specifically in regard to cerebrovascular accidents (CVAs). We present the case of a previously healthy 16-year-old adolescent boy with no preceding infectious symptoms who developed acute onset of left-sided weakness and slurred speech subsequently diagnosed with acute ischemic stroke (AIS). After performing a thorough diagnostic work-up, no clear etiology for AIS was identified. He was found to be COVID-19 positive by reverse transcription polymerase chain reaction upon admission. Accumulating evidence supports a link between COVID-19 and a systemic prothrombotic state suggesting pediatric patients who present with AIS and no other risk factors should be screened for this novel virus and potentially for extracranial sources of thrombi. As the rates of positive COVID-19 infection increase in the pediatric population, pediatricians and other pediatric subspecialists should be aware of the potential neurological and cerebrovascular complications of this novel virus to avoid delays in evaluation and intervention.

This report presents the case of acute disseminated encephalomyelitis in a 2-year-old patient following a positive severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) test. She presented with ataxic gait, truncal ataxia, and reduced coordination following 10 days of intermittent fever and lethargy. She did not have any respiratory symptoms. Magnetic resonance imaging of the brain and spine showed widespread T2 high signal within the gray and white matters and within the spinal cord. She was treated with intravenous methylprednisolone followed by tapering oral prednisolone; this led to resolution of her neurological symptoms. This case highlights that neurological complications can occur secondary to SARS-CoV-2 infection.