An Indian child with Coats plus syndrome due to mutations in STN1.

The role of the CTC1-STN1-TEN1 (CST) complex in Coats plus syndrome (CP), as well as other telomeropathy-phenotypes and disorders of genome instability is well documented. We report an Indian child with a clinical diagnosis of CP who presented to us with retinal exudates, extensive cerebral calcification, developmental delay and severe anemia consequent upon chronic gastrointestinal (GI) bleeding. Whole exome sequencing revealed compound heterozygous variants in STN1 as the probable genetic cause leading to CP in the present case. Of the two variants, the nonsense variant c.397C>T (p.Arg133*) was a truncating variant leading to loss of full protein length whereas the second variant c.985G>C (p.Ala329Pro) was novel and neither reported in ExAC, 1KGP or gnomAD. The deleteriousness of the novel variant was explored through molecular dynamics simulation analysis where p.Ala329Pro mutation affected C-terminal domain interaction between STN1 and TEN1 complex. Hormonal therapy using ethinyl estradiol and norethisterone was apparently associated with a clinically useful, although poorly sustained, decrease in blood transfusion requirement in the proband.

Early Thoracoscopic Plication of Diaphragm in a Newborn with Brachial Plexus Palsy and Concurrent Phrenic Nerve Palsy.

Phrenic nerve palsy is a rare cause of respiratory distress in a newborn. When conservative measures fail to achieve adequate ventilation, then early surgical plication has been found to be associated with good outcome. We report a case of neonate with phrenic nerve palsy in whom an early thoracoscopic diaphragmatic plication was done.

Treatment of Seizures in the Neonate: Special Report From the ILAE Task Force on Neonatal Seizures, 2022.

The International League Against Epilepsy (ILAE) task force on neonatal seizures has recently published draft guidelines and consensus-based recommendations on the treatment of neonatal seizures. This update provides a summary of the recommendations and the changes in management compared to the previous WHO ILAE guidelines, published in 2011, with emphasis on practical decision making requirements for a pediatrician.

Clinical and Genetic Spectrum of 50 Children with Inborn Errors of Metabolism from Central India.

This is a single-center, retrospective analysis of children confirmed to have an inborn error of metabolism in the pediatric department of a teaching hospital in central India. Patients were categorized as acute encephalopathy, developmental delay/seizures, and neuroregression or organomegaly depending on their predominant phenotype. Of the 50 patients analyzed, the commonest group was lysosomal storage disorders in 13 (26%), followed by organic acidurias - 8 (16%), mitochondrial disorders - 5 (10%), urea cycle disorders, carbohydrate metabolism disorders, and amino acidopathies - 4 (8%) each, fatty acid oxidation defects and neurotransmitter deficiency disorders - 3 (6%) each, and miscellaneous (8%). Genetic variations were identified in 25 (50%). Acylcarnitine profiles and urine organic acids were diagnostic in 62.5% of children presenting as acute encephalopathy, exome sequencing in 55.5% of children with neuroregression, and specific enzyme assay in 83.3% of children with predominant organomegaly (83.3%). Children with developmental delay/seizures needed a wider range of tests.

Cerebral creatine deficiency disorders - A clinical, genetic and follow up study from India.

INTRODUCTION: Cerebral creatine deficiency syndromes (CCDS) are a group of potentially treatable neurometabolic disorders. The clinical, genetic profile and follow up outcome of Indian CCDS patients is presented. MATERIALS AND METHODS: This was a retrospective cohort of CCDS patients seen over six-years. Diagnosis was based either on low creatine peak on proton magnetic resonance spectroscopy (MRS) and/or genetic evaluation. RESULTS: Thirteen patients were eligible [8 creatine transporter deficiency (CTD), 4 guanidinoacetate methyltransferase (GAMT) deficiency and 1 could not be classified]. The mean (±SD) age at diagnosis was 7.2(±5.0) years. Clinical manifestations included intellectual disability (ID) with significant expressive speech delay in all. Most had significant behavior issues (8/13) and/or autism (8/13). All had history of convulsive seizures (11/13 had epilepsy; 2 patients only had febrile seizures) and 2/13 had movement disorder. Constipation was the commonest non-neurological manifestation (5/13 patients). Cranial MRI was normal in all CTD patients but showed globus pallidus hyperintensity in all four with GAMT deficiency. MRS performed in 11/13 patients, revealed abnormally low creatine peak. A causative genetic variant (novel mutation in nine) was identified in 12 patients. Three GAMT deficiency and one CTD patient reported neurodevelopmental improvement and good seizure control after creatine supplementation. CONCLUSION: Intellectual disability, disproportionate speech delay, autism, and epilepsy, were common in our CCDS patients. A normal structural neuroimaging with easily controlled febrile and/or afebrile seizures differentiated CTD from GAMT deficiency patients who had abnormal neuroimaging and often difficult to control epilepsy and movement disorder.

Dominant SCN2A mutation with variable phenotype in two generations.

BACKGROUND: SCN2A mutations are some of the commonest causes of neurodevelopmental disorders including epilepsy, movement disorders, autism spectrum disorder, intellectual disability and rarely episodic ataxia. CASE REPORT: We present a patient with a dominantly inherited SCN2A mutation presenting as episodic ataxia in a boy and episodic hemiplegia in his father. We have briefly reviewed the literature of SCN2A mutations presenting with episodic ataxia. CONCLUSION: Our report has expanded the phenotype for SCN2A mutations.

Case Report of Congenital Kyphoscoliosis with Myotonic Dystrophy Type 1: Perioperative and Anesthetic Considerations.

Congenital kyphoscoliosis associated with myotonic dystrophy type 1 (DM 1) is a rare combination and carries challenges of surgical as well as anesthetic intervention. The presence of muscular dystrophy may accelerate progression of scoliosis thus requiring surgical treatment. The objective of this case report was to discuss the perioperative anesthetic and surgical management of such cases.

Management of Neurocysticercosis in Children: Association of Child Neurology Consensus Guidelines.

JUSTIFICATION: Neurocysticercosis (NCC) is a significant problem in India and other developing countries; however, several aspects of this disease have no clear, practical guidelines. There is a need for pragmatic guidelines, summarizing the available evidence, and filling in the gaps in evidence with expert advice to manage children with neurocysticercosis. PROCESS: An expert group (16 members) and a writing group (8 members) was constituted, consisting of members with varied expertise. It included pediatric neurologists (18), neurologist (1), Neuroradiologists (4), and a parasitologist (1). The writing group divided the six topics and reviewed the literature on the topics individually to determine the clinical questions for which no clear guidance was available from the literature. The experts were then contacted and opinions were obtained online. The Delphi consensus method was adopted to arrive at a general consensus regarding various questions, with both the experts and the writing group members contributing. The final guidelines were then drafted by the writing group. RECOMMENDATIONS: Diagnosis of NCC should be based on clinical history and neuroimaging. Contrast-enhanced magnetic resonance imaging of the brain is the modality of choice. For single enhancing lesion, albendazole therapy for 10-14 days is recommended, and it should be combined with praziquantel for 10-14 days for more than one ring-enhancing lesions. For persistent lesion, the same dose and duration of albendazole or concurrent administration of albendazole and praziquantel should be given. Pulse intravenous steroids should be used to reduce the acute symptomatic edema in children with cysticercal encephalitis. Carbamazepine or oxcarbazepine are best suited for seizure prophylaxis for those who present with seizures; phenytoin and levetiracetam are the other alternatives. In the case of NCC presenting with symptoms other than seizures, there appears to be no role for routine anti-seizure medication prophylaxis. For a single ring-enhancing lesion, six months of anti-seizure medication is sufficient if the lesion resolves on follow-up. Those with persistent lesions, calcification, or multiple lesions, require a longer treatment duration of at least 24 months.

Relationship of Leisure Time Activities and Psychological Distress in School Children.

This questionnaire study on 400 school children found that severe psychological distress using the K 10 scale was seen in 38 (9.5%), and 162 (40.5%) had less than 2 hours of leisure time daily. The prevalence of severe distress was lower in children who had daily time with parents and daily leisure time.

Medical errors in pediatric practice.

This prospective study was conducted in a teaching hospital to identify and analyze medical errors in pediatric practice. All admitted children underwent surveillance for medical errors. Of 457 errors identified in 1286 children, medication errors were 313 (68.5%), those related to treatment procedures were 62 (13.6%) and to clerical procedures 82 (17.9%). Physiological factors accounted for 125 (27.3%) of errors, equipment failures in 68 (14.9%), clerical mistakes 118 (25.8%), carelessness 98(21.4%) and lack of training for 48 (10.5%). Morbidity was nil in 375 (82%), mild in 49 (10.7%), moderate in 22 (4.8%) and severe in 11 (2.4%) errors.

Childhood Sarcoidosis Presenting as Recurrent Facial Palsy.

BACKGROUND: Recurrent facial palsy in a patient merits investigation for underlying etiology. CASE CHARACTERISTICS: 8-year-old boy with erythematous itchy skin lesion and recurrent facial palsy. OBSERVATION: He had a past history of aseptic meningitis and nephrocalcinosis. Raised angiotensin converting enzyme levels, interstitial lung disease on CT chest, and non caseating granulomas on skin biopsy clinched the diagnosis of sarcoidosis. MESSAGE: Multisystem involvement and recurrent lower motor facial nerve palsy is a clinical clue for sarcoidosis.

Neonatal Cholestasis - Single Centre Experience in Central India.

BACKGROUND: Neonatal cholestasis syndrome (NCS) is a major cause of morbidity and mortality in infants. The disorder has rarely been studied in centers from Central India. OBJECTIVES: To study the prevalence, clinical presentation and etiology of NCS at a tertiary referral center in Central India. MATERIALS AND METHODS: The study was carried out at a tertiary referral center in Central India. The study is a descriptive study. The records of all patients with suspected NCS treated in the Department of Pediatrics from 2007-2012 were analyzed. RESULTS: One hundred and sixty-eight children had a provisional diagnosis of NCS. The complete records of 100 children were available for the study. The median age of presentation was 78 days (range 15-270 days). The male: female ratio was 1.17:1. The clinical features noted were- jaundice (100/100,100%), failure to thrive (73,73%), organomegaly (68, 68%), acholic stools (38,38%), abdominal distention (52,52%) and poor feeding (29, 29%). The etiology as confirmed by investigations is as follows- neonatal hepatitis (20,20%), idiopathic neonatal hepatitis (18,18%), biliary atresia (41,41%), sepsis (14,14%) and others (7,7%). CONCLUSIONS: The proportion of NCS in our group of patients was 1.2 per 1000 patients. Jaundice, organomegaly and failure to thrive are the common presentations. Biliary atresia, neonatal hepatitis and idiopathic neonatal hepatitis were the common etiological factors at our center.

Newer antiepileptic drugs: evidence based use.

Several new antiepileptic drugs (AED's) have been approved by the FDA in the last 2 decades. The newer AED's score over the older ones, in terms of improved tolerability, safety, improved pharmacokinetics and lower drug-drug interactions. However, efficacy may not be significantly higher. This article reviews the newer antiepileptics approved in the pediatric age group and the evidence for or against their clinical use.