Hepatitis A-induced acute liver failure with glucose 6 phosphate dehydrogenase deficiency induced hemolysis and renal failure.

Hepatitis A is the most prevalent viral hepatitis in India and rarely can lead to life-threatening complications such as acute liver failure (ALF). Glucose 6 phosphate dehydrogenase (G6PD) deficiency is the most common enzyme deficiency in the world, and in the setting of acute viral hepatitis, it can cause massive intravascular hemolysis, resulting in acute kidney injury. Here, we report a case of a 12-year-old male child who had hepatitis A-associated ALF, which was complicated by massive hemolysis due to underlying G6PD deficiency, manifesting as acute renal failure requiring renal replacement therapy with other supportive management. He had a prolonged, protracted stormy clinical course, which was further complicated by dialysis disequilibrium syndrome, posterior reversible encephalopathy syndrome, and nosocomial sepsis, which improved over 4 weeks. Our case highlights the importance of having high index of clinical suspicion for G6PD deficiency in a child with acute viral hepatitis with complications.

Pediatric Dystonic Storm: A Hospital-Based Study.

OBJECTIVE: Pediatric dystonic storm is an underrecognized entity. We aimed to evaluate the profiles of children presenting with dystonic storm in a referral hospital. Management schema and treatment responsiveness of this uncommonly reported entity were analyzed. METHODS: Retrospective review of all children (up to 18 years) hospitalized with dystonic storm over 39 months in the aforementioned facility. RESULTS: Twenty-three children whose ages ranged from 2 years 2 months to 14 years 4 months years (median: 6 years 11 months) (males: 13, females: 11) presented with dystonic storm. The annual incidence was 0.4 per 1,000 fresh admissions with an event rate of 0.9 per 1,000 for all admissions. All had Dystonia Severity Action Plan grades 4/5 with identifiable trigger in 13 (50%). Underlying dystonic disorder preexisted in 10 (43.4%); 8 of these had cerebral palsy. Polypharmacotherapy with >4 drugs out of trihexyphenidyl, tetrabenazine, clonazepam, gabapentin, levodopa-carbidopa, trichlorophos, and melatonin was needed. Supportive care and adequate sedation helped in symptom control. All children were managed with midazolam infusion over 2-10 days (median: 5 days). Mechanical ventilation was resorted to in 6 children (3-22 days). Vecuronium and propofol were used in 3/23 (13%) and 4/23 (17%) children, respectively. Deep brain stimulation was curative in 1 child. Hospitalization ranged from 5 to 31 (median: 11) days. Although there were no deaths, rhabdomyolysis was noted in 1 child. Postdischarge, 6 (26%) children relapsed. CONCLUSIONS: Dystonic storm is a medical emergency mandating aggressive multimodal management. Supportive care, antidystonic drugs, and early elective ventilation alongside adequate sedation with benzodiazepines ameliorate complications. Relapses of dystonic storm are not uncommon.

Effects of lockdown during corona pandemic on children with neurodevelopmental disorders-A questionnaire-based survey.

BACKGROUND: Lockdown due to Corona pandemic is an unprecedented event, which has had a profound impact on the lives of children across all ages. Its effects on children with Neurodevelopmental Disorders (NDD) has not been adequately studied. This study was performed in order to explore the effects of lockdown during the Corona pandemic on children with NDD and their parents. METHODS: The survey was conducted in three Indian tertiary-care hospitals wherein parents of children with NDD were requested to respond to an online questionnaire. The questions attempted to elicit various aspects of the children`s therapies and behavioural profiles as well as their parents` experiences during the pandemic related lockdown. RESULTS: 135/188 (71.8%) parents of children with Autism Spectrum Disorder (ASD)(n=104), Attention Deficit Hyperactivity Disorder (ADHD) (n=26) and Learning Disability (LD)(n=5) responded. Pre-lockdown, 133 (99%) children were receiving regular institution-based therapy, which ceased intra-lockdown. Mean cumulative home-based therapy duration significantly increased during lockdown (p=0.03). Parents reported significantly increased temper tantrums in children (p=0.02). They perceived that during lockdown, their children were bored and their interactions and speech worsened. Majority of parents reported worsening of own qualities of life, but felt confident of taking care of their children during lockdown. CONCLUSIONS: To conclude, children with NDD and their parents were significantly affected by Corona pandemicrelated lockdown. Institutional therapy discontinuation, behavioural deterioration (especially among ASD and ADHD) and parental stress were prominent challenges whereas parental motivation and reliance on homebased therapy were the positive highlights. The survey points to the role of regular parent-administered homebased therapy in children with NDD, especially to tide over similar unexpected adverse scenarios.

Add-on Home-Centered Activity-Based Therapy vs Conventional Physiotherapy in Improving Walking Ability at 6-Months in Children With Diplegic Cerebral Palsy: A Randomized Controlled Trial.

BACKGROUND: : Institutional physiotherapy as a standard of care for management of cerebral palsy (CP) has certain shortcomings, especially in resource-constrained settings. This is a proof-of-concept trial to evaluate the efficacy of individualized home-centered activity-based therapy in children with spastic diplegic CP. DESIGN: Randomized controlled trial (open-label). SETTINGS: Tertiary-care hospital with pediatric neurology services (July, 2014 to July, 2016). PARTICIPANTS: Consecutive sample of 59 children (5-12 y) with spastic diplegic CP (Gross Motor Function Classification System scores II-III) without fixed lower-limb contractures, illnesses impeding physiotherapy or history of recent botulinum toxin injection/surgery were recruited. PROCEDURE: Children were randomized to Intervention or Control arms. Their 6-minute-walk Test (6MWT) scoring and clinical examination were performed at baseline, 3 and 6 months. Children in Intervention arm (n=30) were prescribed parent-supervised home-centered activity-based therapy (walking, standing, squatting, climbing upstairs/downstairs, kicking a ball, dancing, riding a tricycle/bicycle) in addition to their institutional physiotherapy. Children in Control arm (n=29) were prescribed ongoing institutional physiotherapy alone. Logbooks, home videos and telephonic follow-ups were used to ensure compliance. MAIN OUTCOME MEASURES: Comparison of the mean change in 6MWT scores at 6 months (from baseline) between the two groups. RESULTS: Median (IQR) change in 6MWT scores at 6 months (from baseline) in the Intervention and Control arms were 3.5 (-5.3, 9) m and 3 (-7.8, 6.3) m. CONCLUSIONS: Adjunct home-centered activity-based therapy was safe and feasible, but did not result in appreciable gains over 6 months.

Association of Child Neurology (AOCN) - Indian Epilepsy Society (IES) Consensus Guidelines for the Diagnosis and Management of West Syndrome.

JUSTIFICATION: West syndrome is one of the commonest causes of epilepsy in infants and young children and is a significant contributor to neurodevelopmental morbidity. Multiple regimens for treatment are in use. PROCESS: An expert group consisting of pediatric neurologists and epileptologists was constituted. Experts were divided into focus groups and had interacted on telephone and e-mail regarding their group recommendations, and developed a consensus. The evidence was reviewed, and for areas where the evidence was not certain, the Delphi consensus method was adopted. The final guidelines were circulated to all experts for approval. RECOMMENDATIONS: Diagnosis should be based on clinical recognition (history/home video recordings) of spasms and presence of hypsarrhythmia or its variants on electroencephalography. A magnetic resonance imaging of the brain is the preferred neuroimaging modality. Other investigations such as genetic and metabolic testing should be planned as per clinico-radiological findings. Hormonal therapy (adrenocorticotropic hormone or oral steroids) should be preferred for cases other than tuberous sclerosis complex and vigabatrin should be the first choice for tuberous sclerosis complex. Both ACTH and high dose prednisolone have reasonably similar efficacy and adverse effect profile for West syndrome. The choice depends on the preference of the treating physician and the family, based on factors of cost, availability of infrastructure and personnel for daily intramuscular injections, and monitoring side effects. Second line treatment options include anti-epileptic drugs (vigabatrin, sodium valproate, topiramate, zonisamide, nitrazepam and clobazam), ketogenic diet and epilepsy surgery.

Current Perspectives On The Role Of The Ketogenic Diet In Epilepsy Management.

Drug-refractory epilepsy is a commonly prevalent pediatric neurological illness of global significance. Ketogenic diet (KD) is a time-tested therapeutic modality for refractory epilepsy, which has reemerged as a robust alternative to anti-epileptic pharmacotherapy. There is a growing body of evidence which supports the anti-seizure efficacy, safety profile and feasibility of KD use in childhood epilepsy. In addition, this modality has been recognized to reduce anti-epileptic exposure, improve cognition and behavioral profile of patients as well as improve the quality-of-life of care-givers. Current indications of KD include refractory epilepsy syndromes, selected metabolic disorders (such as pyruvate dehydrogenase deficiency) and a host of varied neurological entities. KD research has broadened the knowledge-base about its mechanisms of action. Four types of KD are in vogue currently with varying nutritional constitution, palatability, administration protocols and comparable efficacy. KD initiation and maintenance are the result of concerted effort of a team of pediatric neurologist/epileptologist, nutritionist and patient's primary care-giver. Consensus is being formulated about various practical aspects of KD such as patient-selection, parental counseling, baseline work-up, dietary prescription, nutritional supplementation, concurrent anti-epileptic drug administration, follow-up and treatment-duration. Novel applications of KD include its use in neonatal epilepsy and super-refractory status epilepticus and tailor-made formulations such as cooking oil-based KD in predominantly rice-fed populations. Increasing body of clinical experience, improved nutritional designs and translational research are promoting KD as a major therapeutic modality. Currently, KD forms a core essence in the armamentarium against refractory epilepsy. In this review, we summarize the recent advances and current perspectives in the use of KD in refractory epilepsy.

Acute ischemic stroke following water immersion seizure: a case report.

Sing Rana K, Goswami JN, Sareen N. Acute ischemic stroke following water immersion seizure: a case report. Turk J Pediatr 2019; 61: 453-455. Water immersion epilepsy or bathing epilepsy is a rare form of reflex epilepsy. We report a 4-year-old child with water immersion epilepsy who manifested with an unusual presentation in the form of acute onset right hemiparesis triggered by sudden splashing of water on his face. The case is an attempt to sensitize clinicians about this entity. It also highlights the role of meticulous history-taking, examination, relevant investigations and management plan in such scenarios.

Angelman Syndrome Due to UBE3A Gene Mutation.

A 12-y-old boy presented with developmental delay, autism, epilepsy, limb tremors and behavioral problems which posed a diagnostic challenge. Though his clinical profile and electroencephalogram were suggestive of Angelman syndrome, initial genetic tests were unyielding. Exome sequencing revealed a previously unreported mutation of Ubiquitin Protein Ligase E3A (UBE3A) gene, confirming the diagnosis of Angelman syndrome. The case is aimed to sensitize pediatricians about Angelman syndrome and to highlight the role of sequential investigations in establishing the diagnosis.

Drug reaction with eosinophilia and systemic symptoms in a child on multiple antiepileptics.

Goswami JN, Vaidya PC, Saini AG, De D, Radotra BD, Singhi PD. Drug reaction with eosinophilia and systemic symptoms in a child on multiple antiepileptics. Turk J Pediatr 2017; 59: 197-199. Drug reaction with eosinophilia and systemic symptoms (DRESS) is an adverse drug-reaction that may mimic systemic illnesses and have a fulminant presentation. We describe an 8-year-old girl with epilepsy and exposure to multiple anti-epileptics who presented with fever, extensive maculopapular rash, cervical lymphadenopathy, hepatomegaly, progressive anemia and transaminitis. Infections, autoimmune disorders and hematological or reticuloendothelial malignancies were excluded. Based on the proposed diagnostic criteria, a diagnosis of DRESS was concluded. Her skin biopsy showed atypical findings consistent with erythema multiforme. Suspected anti-epileptic drugs were discontinued. She was administered pulse methyl-prednisolone therapy and broad-spectrum antibiotics along with adequate supportive management. Unfortunately, the child succumbed to nosocomial sepsis. Our case highlights the importance of early suspicion for diagnosis of pediatric DRESS, avoidance of polytherapy and institution of early immunomodulation to improve the outcomes in children in this condition.

An Indian Family with Tyrosine Hydroxylase Deficiency.

BACKGROUND: Tyrosine Hydroxylase deficiency is a rare neurotransmitter disorder. CASE CHARACTERISTICS: An Indian family with the disorder. OBSERVATIONS: Phenotypic variation, elevated serum prolactin, genetic confirmation, and partial treatment-responsiveness. MESSAGE: Tyrosine Hydroxylase deficiency is a treatable inborn error of metabolism and serum prolactin assists in diagnosis.