Child Neurology: Allgrove Syndrome: An Intriguing Etiology of Motor Neuron Disease in Children

Motor neuron diseases are a rare group of neurodegenerative disorders with considerable phenotypic heterogeneity and a multitude of etiologies in the pediatric population. In this study, we report 2 unrelated adolescents (a boy and a girl) who presented with 4-6 years of progressive difficulty in walking, thinning of limbs, and gradually progressive darkening of the skin. Examination revealed generalized hyperpigmentation of skin and features suggestive of motor neuron involvement such as tongue atrophy, wasting of distal extremities, and brisk deep tendon reflexes. On detailed exploration for systemic involvement, history of dysphagia, inability to produce tears, and Addisonian crises were evident. An etiologic diagnosis of Allgrove syndrome, which is characterized by a triad of achalasia, alacrimia, and adrenal insufficiency was considered. Next-generation sequencing revealed pathogenic variants in the AAAS gene, confirming the diagnosis. Steroid replacement therapy was initiated along with relevant multidisciplinary referrals. The disease stabilized in the boy and a significant improvement was noted in the girl. These cases highlight the value of non-neurologic cues in navigating the etiologic complexities of motor neuron diseases in children and adolescents. It is imperative for neurologists to develop awareness of the diverse neurologic manifestations associated with Allgrove syndrome because they are often the first to be approached. A multidisciplinary team of experts including neurologists, endocrinologists, gastroenterologists, ophthalmologists, and dermatologists is essential for planning comprehensive care for these patients.

Serum Trace Elements in Children with Well-Controlled and Drug Refractory Epilepsy Compared to Controls: An Observational Study.

Background: Trace elements have been implicated in pathogenesis of epilepsy. Studies till date have shown altered levels of serum trace elements in children with epilepsy. Objective: The objective of the current was to estimate serum levels of trace elements in children with well-controlled and drug refractory epilepsy and compare it with controls. Methodology: In a tertiary care teaching hospital of North India, serum selenium, copper, zinc, and iron were estimated in well-controlled and drug refractory epileptic children aged 2-12 years and compared with age and gender matched controls. Results: A total of 106 children with epilepsy (55 drug refractory and 51 well controlled) and 52 age and gender matched controls were included in the study. Serum selenium and copper were significantly decreased in cases compared to controls. After classifying epilepsy into well-controlled and drug refractory cases, only in the latter the significant difference for serum selenium and copper levels remained compared to controls. Additionally, in the drug refractory cases, serum iron levels were significantly reduced compared to controls. Conclusions: Serum trace elements are altered in children with epilepsy (more so in the drug refractory group) compared to controls. Monitoring of serum trace elements in children with epilepsy should be considered. Up to one-third of epilepsy is drug refractory of which only another third are amenable to surgery. It is worth investigating the therapeutic potential of altered micronutrient status in these patients.

Clinical spectrum of psychogenic non epileptic seizures in children; an observational study.

PURPOSE: The current study was designed to analyze the clinical spectrum of Psychogenic non-epileptic seizures (PNES) in children. METHODS: Children aged 6-16years with clinically suspected PNES, confirmed by short-term VEEG (STVEEG{video electroencephalogram}) and induction were classified as per Seneviratne classification. Stressors, associated co morbidities, Verbal IQ (Intelligence Quotient) and behavioral abnormalities were assessed using HTP(House tree person) test, DSM IV (Diagnostic and statistical manual of mental disorders) TR criteria, MISIC (Malin intelligence scale for Indian children) and CBCL (Child behaviour checklist). RESULTS: Eighty children with PNES {45 boys; mean age: 10.5 (±1.6) years} were enrolled. Median delay in diagnosis was 5 months {IQR(interquartile range)- 0.5 to 48 months}) and 45% patients were already on AEDs (antiepileptic drugs). Commonest semiology was dialeptic (42.5%), followed by mixed (28.8%), motor (15%) and nonepileptic aura (13.8%). Family stressors were the commonest followed by school related issues. The most common psychiatric comorbidity was adjustment disorder. Somatic complaints were observed in 50% children. CONCLUSIONS: Dialeptic PNES is commonest in children. In resource constrained settings, STVEEG along with induction is a reliable method to diagnose PNES. A comprehensive assessment protocol (including assessment of stressors) is needed for holistic management of pediatric PNES.

Peripheral neuropathy in cystic fibrosis: a prevalence study.

BACKGROUND: Information on peripheral neuropathy in children with cystic fibrosis is scanty. The etiology can be multifactorial (micronutrient deficiency, chronic hypoxia, impaired glucose tolerance, immunological, vasculopathic, critical illness). METHODS: Forty five cystic fibrosis children aged 1-18 years on vitamin E supplementation for at least 6 months underwent detailed neurological examination, serum vitamin E, vitamin B12, folate, copper levels and detailed nerve conduction studies. RESULTS: The mean age of the study population was 8.35 years (±4.9 years) with 62.2% being males. Overall 22 out of 45 (48.88%,CI: 33.7-64.2) had electrophysiological evidence of peripheral neuropathy which was predominantly axonal (86.4%), sensory (50%), and polyneuropathy (95.45%). There was no significant association between status of serum micronutrients and electrophysiological evidence of peripheral neuropathy. CONCLUSION: Patients with cystic fibrosis have electrophysiological evidence of peripheral neuropathy (predominantly axonal, sensory and polyneuropathy). There is significant association of higher chronological age with occurrence of peripheral neuropathy.