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. https://www.selleckchem.com/products/rk-24466.html 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.