Notes

Finding involving Taroxaz-104: The first strong antidote regarding SARS-CoV-2 VOC-202012/01 stress.
Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis. Infants with Joubert syndrome usually present with hypotonia, developmental delay, oculomotor apraxia, and respiratory abnormalities. Seizures in Joubert syndrome are not uncommon. Infantile spasms as presentation are hitherto unreported. Here we present a rare case of an 8-month-old infant diagnosed as Joubert syndrome with ZNF423 mutation who presented with West syndrome. Early diagnosis and appropriate management of the child effectively reduced the spasms.Sneddon syndrome is a rare, non-inflammatory vasculopathy that generally occurs in the third to fourth decade of life but may rarely present in the pediatric population. It is characterized by the skin finding of livedo racemosa and recurrent ischemic strokes. Binimetinib Other common neurologic manifestations include migraine and early cognitive decline. It may be associated with systemic lupus erythematosus (SLE) and antiphospholipid antibodies, or as in our case, thrombophilia and autoimmune workup may be negative. Optimal treatment for Sneddon syndrome is unknown. Here we report the case of an 18-year-old female, with a 3-year history of livedo racemosa and migraines, who presented with acute expressive aphasia and was found to have an ischemic stroke and an evidence of prior strokes on magnetic resonance imaging (MRI). Autoimmune and cardioembolic causes of stroke were ruled out. Given the findings of livedo racemosa and evidence of recurrent strokes, she was diagnosed with Sneddon Syndrome. Five years earlier, she had been diagnosed with Freiberg disease, which is the avascular necrosis of the second metatarsal head and was likely her first symptom of Sneddon syndrome. This is the first report of Freiberg disease associated with Sneddon syndrome. This paper highlights a rare cause of stroke in the pediatric population as well as the first report of avascular necrosis associated with Sneddon syndrome. Several manifestations of Sneddon syndrome can precede strokes by years. An awareness of those features may allow for the adoption of primary stroke prevention.Myelocystoceles, also known as syringoceles, syringomyeloceles, and lipomeningomyelocystoceles, represent 5% of all lumbosacral skin-covered masses. Terminal myelocystocele (TMC) is a rare variant of spinal dysraphism. At times, patients with TMCs can present with a huge lumbosacral mass (giant TMC). A 14-month-old female child presented with progressive increasing swelling in the lumbosacral region (35 cm × 35 cm × 30 cm) since birth with inability to move both lower limbs. Magnetic resonance imaging revealed a dilated terminal central canal herniating through a spina bifida defect (from L4 to S2) into a huge meningocele, suggestive of a giant TMC. The girl was operated on successfully and was doing well at 6 months follow-up, although neurologically unchanged. Giant TMC is a rare entity and only a few case reports are available in literature. Herein we present a case with TMC with the largest dimensions reported till date.The prototypical disorder for the early-onset cerebellar ataxia with cerebellar atrophy is ataxia telangiectasia (AT). AT belongs to "DNA-repair defects" or "DNA-repair deficiency" disorders. The ATM (Ataxia-telangiectasia mutated kinase) gene mutated in AT is central to deoxyribonucleic acid (DNA) damage response (DDR) signaling. Other genes implicated in DDR signaling are MRE11A (Meiotic recombination 11). Mutation of this gene results in ataxia-telangiectasia-like disorder (ATLD). We report a boy who presented with mild cerebellar ataxia and dystonia with cerebellar atrophy on brain imaging. Clinical exome sequencing showed compound heterozygous variants in MRE11 gene. He was diagnosed as ATLD, which has not been reported in Indian subcontinent so far.Macrophagic myofasciitis is a rare inflammatory myopathy characterized by peri-fascicular macrophage infiltration without muscle necrosis. Here we report two children presented in the early infancy. Case 1 a 5-month-old girl presented with lack of neck control and floppiness. On examination, generalized hypotonia, absent deep tendon reflexes, and motor power of 2/5 (Medical Research Council grade) were observed. Case 2 a 17-day-old boy presented with poor feeding, tachypnea, and floppiness. On examination, decreased tone in all limbs and power of less then 2/5 in all limbs with absent reflexes were observed. Routine investigations including serum Creatine phosphokinase of both babies were normal. Muscle biopsy showed features of macrophagic myofasciitis in both infants. Any floppy infant of lower motor neuron type macrophagic myofasciitis should be considered in addition to inherited causes.Hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome is an uncommon outcome of prolonged focal status epilepticus in childhood. We present four cases with age between 6 months and 3 years diagnosed with HHE syndrome. Two patients were lost to follow-up; other two cases had severe developmental delay and refractory epilepsy. An early diagnosis, a good seizure control, and a better understanding of the underlying mechanisms of HHE are needed to improve the outcome of this condition.Hypomyelination and congenital cataract (HCC) is a condition, which is caused by mutations in the FAM126A gene and is characterized by congenital cataract, progressive neurologic impairment, and myelin deficiency in both the central and peripheral nervous system. We present the findings of three siblings who applied to us with the same clinical features. These patients were referred to our clinic due to the presence of bilateral congenital cataract and progressive neurological impairment with peripheral neuropathy. Brain magnetic resonance imaging (MRI) showed diffuse hypomyelination, whereas neurophysiological studies showed sensorimotor peripheral polyneuropathy. Cases with hypomyelination in MRI represent the largest group of undiagnosed diseases among patients with leukoencephalopathies. To diagnose cases with peripheral neuropathy, their clinical and neuroradiological findings must be identified. These findings can guide clinicians to appropriate molecular investigations.Tuberculosis (TB) is a major health problem in developing countries. Approximately 1 million children became ill with TB in year 2016. Neurotuberculosis is associated with high mortality and morbidity. Intracranial tubercular subdural empyema is extremely rare in pediatric population. Authors report a case of 13-year-old male child who had presented with recurrent seizures and features of raised intracranial pressure. Neuroradiology of skull revealed intracranial subdural empyema. He was managed effectively with burr hole evacuation of the pus, postoperative neuroradiological assessment, and prompt empirical antitubercular therapy. Authors propose that high index of suspicion, neuroradiology, and prompt therapeutic interventions are necessary for good prognosis of this rare yet curable disease.Growing skull fracture (GSF) is an extremely uncommon entity and accounts for less than 1% of the skull fractures. This type of fracture is commonly seen in children of less than 3 year of age and two third of them occur in less than one year of age. Occurrence of GSF is higher in infancy and early childhood because of rapid growth of brain and skull take place in initial two year of the life. Dural tear is most common etiological factor that leads to growing skull fracture. Growing skull fracture with arrested hydrocephalus is a rare association and has been described only once in literature. We hereby, are reporting a case of one year child presented with gradual progressive head enlargement with progressive subgaleal swelling over left parietal region. patient sustained head injury 4 month back due to fall from bed. After all relevant radiological examinations, cyst excision and water tight dura closure was done. Patient improved and till last follow up there was not any recurrence of cyst.An encephalocoele is a spectrum of cranial dysraphism caused due to defective closure of neural tube during early embryonic life, leading to formation of a cerebrospinal fluid (CSF)-filled sac containing brain tissue and meninges, all herniated through a bony defect of the skull. Anterior encephalocoeles, though rare in the Western world, are relatively common in southeast Asia, including some parts of India. Among anterior encephalocoeles, fronto-ethmoidal type is the most common followed by orbital encephalocoeles. Giant encephalocoeles are rare with few published short series, which are mostly located in occipital region. Giant interfrontal encephalocoele through a wide anterior fontanel is the rarest one and is limited to three case reports, including this index case. Here we report a case of giant anterior fontanel encephalocoele in a 20-day-old neonate and discuss various aspects of its management.
The aim of this study was to compare the efficacy and safety of intravenous levetiracetam and fosphenytoin in the management of pediatric status epilepticus.

This is an open-labeled randomized controlled trial, conducted at tertiary care pediatric intensive care unit. Subjects between 1 month and 18 years who presented with status epilepticus were enrolled. If seizures persisted even after two doses of lorazepam, participants were randomized to receive either fosphenytoin 30 mg/kg or levetiracetam 30 mg/kg intravenously and followed up till 48h, for seizure recurrence and adverse drug effects. Outcome measures were cessation of seizures within 10-20 min following the end of the infusion of drugs fosphenytoin and levetiracetam, respectively, and no recurrence of seizures was noted over next 48h.

Subjects in both study groups were comparable in baseline characteristics. Seizures stopped in 54 (93.1%) and 53 (91.4%) in fosphenytoin and levetiracetam groups, respectively (
= 1.000). Seizure recurrence was noted in 13 (22.4%) and 10 (17.2%) patients in fosphenytoin and levetiracetam groups, respectively (
= 0.485). In fosphenytoin group, one (1.7%) child had bradycardia, two (3.4%) children required inotropes, and three (5.2%) children required intubation. In levetiracetam group, none had bradyarrhythmia, required inotropes, and intubation was required in one (1.7%) child each. No statistically significant difference was observed in outcome parameters in two groups.

Levetiracetam is as efficacious as fosphenytoin in control of pediatric status epilepticus and is associated with lesser side effects.
Levetiracetam is as efficacious as fosphenytoin in control of pediatric status epilepticus and is associated with lesser side effects.
Pediatric anxiety and restlessness may create issues and difficulties in performing accurate diagnostic studies even noninvasive ones, such as radiological imaging. There are some agents that will help to get this goal. This study aimed to compare the intranasal effect of dexmedetomidine (DEX) and midazolam (MID) for sedation parameters of children undergoing computerized tomography (CT) imaging.

A double-blind clinical trial was conducted on 162 eligible children who underwent CT imaging. These patients were divided into two groups including MID (
= 81) with dose of 0.3 mg.kg and DEX (
= 81) with dose of 3 μg.kg, which was consumed intranasally. The mean blood pressure (MBP), respiratory rate (RR), heart rate (HR), and oxygen saturation (O2Sat) in children were recorded. Then, time of initiation, level of sedation, and duration effect of medication were measured at 0, 10, 20, and 30 min. Parents and clinician satisfaction score was asked. All data were analyzed using the Statistical Package for the Social Sciences (SPSS) software by
test and chi-square test.
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