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Background and Purpose: In childhood epilepsy, genetic etiology is increasingly recognized in recent years with the advent of next generation sequencing. This has broadened the scope of precision medicine in intractable epilepsy, particularly epileptic encephalopathy (EE). Developmental disorder (DD) is an integral part of childhood uncontrolled epilepsy. This study was performed to investigate the genetic etiology of childhood epilepsy and DD.Methods: In this study, 40 children with epilepsy and DD with positive genetic mutation were included retrospectively. It was done in a tertiary care referral hospital of Bangladesh from January 2019 to December 2020. Genetic study was done by next generation sequencing. In all cases electroencephalography, neuroimaging was done and reviewed.Results: In total, 40 children were enrolled and the average age was 41.4±35.850 months with a male predominance (67.5%). Generalized seizure was the predominant type of seizure. Regarding the association, intellectual disability and attention deficit hyperactivity disorder was common. Seventeen cases had genetically identified early infantile EE and common mutations observed were SCN1A (3), SCN8A (2), SLC1A2 (2), KCNT1 (2), and etc. Five patients of progressive myoclonic epilepsy were diagnosed and the mutations identified were in KCTD7, MFSD8, and CLN6 genes. Three cases had mitochondrial gene mutation (MT-ND5, MT-CYB). Some rare syndromes like Gibbs syndrome, Kohlschütter-Tönz syndrome, Cockayne syndrome, Pitt-Hopkins syndrome and cerebral creatine deficiency were diagnosed.Conclusions: This is the first study from Bangladesh on genetics of epilepsy and DD. This will help to improve the understanding of genetics epilepsy of this region as well as contribute in administering precision medicine in these patients.

Objective: Patients with primary and secondary dystonic syndromes occasionally develop severe episodes of generalized dystonia and rigidity which is known as status dystonicus (SD) or dystonic storm. This is a frightening hyperkinetic movement disorder and it is an emergency. Marked, rapid exacerbation of dystonia requires prompt intervention and admission in the hospital. It is critical to recognize early and differentiate dystonic storm from other hyperkinetic movement disorder as it may lead to metabolic complications such as rhabdomyolysis, leading to acute renal failure. This paper has been written to describe three cases of SD, all having secondary dystonia with different etiologies to highlight the mode of presentation, diagnosis, treatment and outcome. Methodology: We report 3 cases of severe secondary dystonia culminating in SD necessitating management in hospital setting. All the three cases were admitted in a tertiary care hospital and evaluated. Results: One patient was treated in intensive care unit. In brief 1st case was a 5 year boy with dyskinetic CP who was treated with trihexiphenidyl (THP), baclofen and midazolam infusion. Second case was a 15 month old boy, diagnosed case of mitochondrial encephalopathy (Leigh disease) who was treated with THP, baclofen, haloperidol, clonazepam and infusion midazolam. The third case was a 13 month old boy, diagnosed case of Molybdenum Cofactor deficiency who was treated with THP, tizanidine but they refused to take midazolam. Conclusion: In this case series, three cases with SD with different etiology have been described with clinical features, modalities of treatment and outcome.

Adverse neurological event particularly seizure after vaccination is not uncommon. The most linked vaccines are Diphtheria, Pertussis and Tetanus toxoid (DPT), Measles, Mumps and Rubella (MMR) and other combination vaccines. It is documented that increased febrile seizure after DPT and MMR vaccine is due to increase febrile episodes precipitating seizure and it is time related. Concomitant administration of vaccines cause seizure due to synergistic effect of those vaccines. When these vaccines are given separately, the risk of seizure is decreased. These type of vaccines are MMR + varicella (MMRV), DTaP-HepB-IPV etc. Regarding etiology, genetic mutation is most important. Some genes are closely related to vaccine induced FS and afebrile seizure like SCN1A, SCN2A, IFI44L, PCDH19 etc. Other causes are endotoxin mediated endothelial damage, IL-1â production and non CNS infection. It is well evident that consequences of not giving vaccine are far more than the adverse events. So Vaccinations should be performed without contraindication in children with previous febrile and afebrile seizures with proper counseling. Bangladesh J Child Health 2020; VOL 44 (1) :40-47

Background and purpose Epilepsy is an important neurologic feature of patients with tuberous sclerosis complex (TSC). Most common seizure types are focal seizure and epileptic spasm. Seizure control often requires multiple antiepileptic drugs. This study has been done to evaluate the seizure types, electro-encephalography (EEG), neuroimaging features, and drug treatment of epilepsy in TSC. Methods This prospective observational study has been conducted on epilepsy patients with TSC at Bangabandhu Sheikh Mujib Medical University from 2011 to 2019. Results Seventy patients with a mean±standard deviation age of 5.64±3.96 years were identified and 57.1% were female. Most common type of seizure was focal seizure (46%). Epileptic spasm occurred in 17% of patients and all of them had seizure onset before 1 year. In 47% of patients EEG showed focal epileptic discharge; hypsarrhythmia was found in most of the patients with epileptic spasm. Majority of the patients needed more than one drug to control seizure. Only 34% of patients were seizure free for at least 12 months and 22.8% had drug resistant epilepsy. Conclusions This study highlights the pattern of seizure, treatment pattern, response to drug, and short-time outcome of children with TSC with epilepsy in a developing country like Bangladesh.

Early infantile epileptic encephalopathy type 13 is a severe form of epilepsy caused by mutations in the sodium channel 8 alpha (SCN8A) gene. This gene encodes the neuronal voltage-gated sodium channel which plays vital role in neuronal excitability. Here we present two cases with SCN8A encephalopathy. Both cases had mutation in p.Arg1872Gin the SCN8A gene, which was detected by targeted next generation sequencing. Case 1 was a 14-month old boy, who had a normal birth history with normal development up to 6 months and then developed repeated generalized seizure, which was nonresponsive to multiple antiepileptic drugs. He also had neuroregression and dystonia. His electroencephalogram (EEG) showed progressive background abnormality with burst suppression pattern. His metabolic panel was normal and had partial response to carbamazepine. The second case was for an 11-month old boy with the onset of seizure at the age of 7 months. Seizure was generalized, resistant to multiple antiepileptic drugs. He had developmental delay from beginning, no movement disorder. EEG showed focal discharge from left temporal and occipital region. He showed partial response to oxcarbazepine. Our cases had similarities with the previously reported cases. The detailed discussion of our cases would contribute to early detection and targeted treatment of SCN8A encephalopathy. This also gives special emphasis on a genetic test in infants with intractable epilepsy, movement disorder and developmental delay.

Alternating hemiplegia of childhood (AHC) is a rare disorder which presents before 18 months of age characterized by repeated attacks of hemiplegia involving either side of the body, paroxysmal disturbances,developmental delay and learning disability. The cause of AHC remains largely unknown and treatment evidence is less available. AHC is unreported in Bangladeshi literature. We report two cases of AHC. Our first case is a 16-month-old girl who presented with hemiplegia in alternate side for four episodes. She also had abnormal body movement and irritability during awakening. Every episode subsided spontaneously after 2 to 5 days. All investigations were normal except iron deficiency anemia. She was treated with flunarizine. Our second case, a 7 year and 10 month-old boy presented with recurrent alternate hemiplegia since 3½ years of age with epilepsy. His attacks were precipitated in high temperature. His EEG was abnormal. He was treated with multiple antiepileptic drugs and flunarizine. These are first two cases reported from Bangladesh. AHC remains undiagnosed in many cases. So a detailed history and diagnostic evaluation is very important for early counseling and treatment.J Enam Med Col 2018; 8(1): 46-49

Background:Children are most vulnerable to tubercular meningitis. Neuroimaging is an important initial investigation in tubercular meningitis.Objective:This study was done to describe the clinical profile, neuroimaging changes, and clinical outcome in children with tubercular meningitis.Methodology:This was an observational cohort study on children with tubercular meningitis, between January 2012 and June 2018. Tubercular meningitis was diagnosed on the basis of clinical criteria, cerebrospinal fluid analysis, neuroimaging, and response to antitubercular drug treatment. Preferably magnetic resonance imaging (MRI) with contrast was done.Result:Out of 79 pediatric patients, 17 patients were lost during follow-up; thus, a total of 62 patients were studied. Mean age at presentation was 7.040 (±3.99 SD) year, 51.6% children were male. Rural children were more affected. Twenty eight (45.2 patients had contact with a person with tuberculosis. Only 3 (4.8%) patients presented within 10 days of duration of illness. Most of the cases (67.7%) were in stage 2 at the time of diagnosis. The most common clinical feature was fever, seizure, and signs of meningeal irritation (all present in 12.9%). In neuroimaging most common findings were tuberculoma (50%), hydrocephalus (54.8%), and basal meningeal enhancement (33.8%). Regarding outcome, 6 (9.67%) patients expired and 47 (75%) patients had sequelae. The most common complications were hydrocephalus (30.64%) and intellectual disability (12.9 ). Hydrocephalus was the most common neuroimaging finding among the patients who expired (33%).Conclusion:Hydrocephalus is the most common neuroimaging finding. Normal neuroimaging is associated with good outcome whereas all the patients who died had abnormal neuroimaging.

Background: Tuberous sclerosis complex (TSC) is a genetic disorder where there is multisystem involvement. Most important manifestations are neurological and psychiatric disorders. These disorders should be detected timely and addressed adequately. The common psychiatric disorders are autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), intellectual disability (ID), learning disorder etc. This study has been done to describe the pattern of psychiatric disorders in children with TSC.Methods: This is an observational study taken place in a tertiary care hospital taken place on Children of 0-18 years of age. The study subjects were 84 patients with TSC. Detail history and physical examination had been done along with neuroimaging, EEG and target organs screening. Different psychometric tool was used for psychiatric evaluation. Results: Total 84 patients were included in this study, mean age was 7+3.96 years, 54% were female. Physical finding were as follows: ash leaf spot, shagreen patch, adenoma sebaceum, cafe au lait spot, rhabdomyoma, renal cyst and angiomyolipoma etc. Seventy patients had epilepsy, most common being focal epilepsy (45.7%), 17.1% had epileptic spasm. Fifty percent patients had developmental delay. Regarding psychiatric disorders, most common disorder was ADHD in 27.38%, ASD in 23.81% and both in 10.71%. ID was found in 20.24% study subjects. Early onset of seizure was associated with more psychiatric disorders.Conclusions: Neuropsychiatric manifestations of TSC are diverse and often are poorly addressed. The most commonly found disorders in this study were ADHD, ASD and ID. Early onset of seizure was associated with the psychiatric disorders in TSC.

not available DOI: http://dx.doi.org/10.3329/bjch.v38i2.21143 Bangladesh J Child Health 2014; VOL 38 (2) : 86-93

1. Assistant Professor, Pediatric Neurology, Department of Pediatrics, BSMMU, Dhaka 2. Professor and Head, Pediatric Neurology, Department of Pediatrics, BSMMU, Dhaka 3. Professor, Pediatric Neurology, Department of Pediatrics, BSMMU, Dhaka Correspondence: Dr Kanij Fatema, Assistant Professor, Pediatric Neurology, Department of Pediatrics, BSMMU, Dhaka Introduction: Most of infected infants presenting with Cytomegalovirus (CMV) remain asymptomatic1. Symptoms include growth restriction, microcephaly, seizures, cerebral ventriculomegaly, chorioretin is, hepatitis syndrome, thrombocytopenia, anemia, and pneumonitis2. Approximately 5 to 10% of these infants manifest signs of serious neurological defects at birth, including deafness, mental retardation, blindness, microcephaly, hydrocephalus, and cerebral calcification3,4. In addition, 10 to 15% of congenitally infected infants who are asymptomatic at birth subsequently develop brain disorders such as sensorineural hearing loss.5 One case of congenital CMV disease with developmental delay and leukoencephalopathy has been reported here.

Background: Diabetes is a common medical complication during pregnancy that results in significant neonatal morbidities. In infants of diabetic mothers (IDMs), hypoglycemia is a common complication. Objective: To study the neonatal hypoglycemia in IDMs in a tertiary care hospital. Settings and Design: A cross-sectional study was done in postnatal ward in Bangladesh Institute of Research and Rehabilitation in Diabetic, Endocrine and Metabolic Disorders from January to December 2009. Subjects and Methods: The data of IDMs were collected from postnatal ward. All IDMs delivered during this period staying in postnatal ward were included in this study. The outcomes were compared between the hypoglycemic and normoglycemic IDMs and between gestational diabetes mellitus (GDM) and pre-GDM in hypoglycemic group using Chi-square test and Fisher's exact test. The data analysis was performed with Epi-enfo7 software. Statistical significance was set at P < 0.05. Results: A total of 363 IDMs were included in this study. Hypoglycemia developed in 38.3% IDMs and 43.2% mothers of hypoglycemic IDMs had GDM and 56.8% had pre-GDM. Duration of maternal diabetes (P = 0.04) and large for gestational age (P = 0.0001) were associated with hypoglycemia. Multigravidae (82.2% vs 68.3%, P = 0.03), prolonged duration of maternal diabetes (45.46 weeks vs 3.23 weeks, P = 0.00001), preterm babies (48.1% vs 28.3% P = 0.009), and control of diabetes by insulin (81% vs 46.7%, P = 0.001) were more in pre-GDM, and statistically significant. About 85% IDMs developed hypoglycemia within 6 h of birth (P-value 0.00001) and majority (68%) were at 2 h of age. Forty percent of hypoglycemic IDMs from postnatal ward were admitted in special care baby unit. Conclusion: Hypoglycemia observed in 38.3% IDMs and developed within 6 h of age and maximum were at 2 h. Early recognition and appropriate intervention are needed in IDMs.