Biswaroop Chakrabarty

Pediatric Anti-N-Methyl-D-Aspartate (NMDA) Receptor Encephalitis Experience of a Tertiary Care Teaching Center From North India

Anti-N-methyl-d-aspartate (NMDA) receptor encephalitis is characterized by acute- or subacute-onset encephalopathy with extrapyramidal, psychiatric, and epileptic manifestations. Diagnosis is confirmed by positive antibodies to NMDA receptor in cerebrospinal fluid and serum. Eleven pediatric cases presented over a 2-year period at a tertiary care teaching hospital in North India. The average age at presentation was 9 years (range: 2.5 to 18 years, median: 10 years) with a slight female predominance (1.2:1). The common modes of presentation were progressive extrapyramidal syndrome with global neuroregression in 45% (5 of 11), epileptiform encephalopathy in 27% (3 of 11), and an overlap between the 2 in 27% (3 of 11). Fifty-eight percent showed significant response to steroids and intravenous immunoglobulin. This entity should be considered in an acute- or subacute-onset encephalopathy if common infectious etiologies are ruled out and there are specific clinical pointers. Early diagnosis and treatment significantly improves the outcome.

Acute onset flaccid quadriparesis in pediatric non‐Hodgkin lymphoma: Vincristine induced or Guillain–Barré syndrome?

Immunological involvement of peripheral nervous system in non‐Hodgkin lymphoma (NHL) is very rare and it may be difficult to differentiate it from vincristine‐induced neuropathy. We report clinical and electrophysiological findings of an 8‐year‐old male with NHL who developed acute onset fulminant motor sensory autonomic neuropathy during induction chemotherapy which included vincristine. Characteristic clinical picture and nerve conduction studies favored Guillain–Barré syndrome. The patient improved rapidly with intravenous immunoglobulin and supportive care. It is possible that an immune mechanism damaged the peripheral nervous system in the patient without ruling out the adverse effects of vinca alkaloids. Pediatr Blood Cancer. 2010;55:1234–1235.

Epilepsy, Cognition and Behavior

Epilepsy is defined as two or more unprovoked seizures. Epileptic patients have intellectual disability and behavioral co-morbidities to the tune of up to 25 and 75% respectively. Various factors like underlying etiology, socioeconomic environment at home, age at onset, seizure semiology, seizure descriptors like duration, severity and frequency, therapy related adverse effects secondary to antiepileptic drugs and epilepsy surgery have been implicated for the causation of cognitive and behavioral impairment in epilepsy. Cognitive epilepsy has emerged as a specific entity. This may manifest as a transient behavioral or cognitive change, insidous onset subacute to chronic encephalopathy or more catastrophic in the form of nonconvulsive status epilepticus. Cognitive impairment seen in epileptic children include difficulties in learning, memory, problem solving as well as concept formation. Anxiety, depression and attention deficit hyperkinetic disorders are the most common psychiatric co-morbidities seen. Investigating a child with epilepsy for cognitive and behavioral impairment is difficult as these tests would require cooperation from the patient’s side to a significant extent. A rational approach towards treatment would be judicious selection of antiepileptic drugs, treatment of underlying cause, appropriate management of behavioral co-morbidities including psychopharmacotherapy and a trial of immunotherapy (particularly in cognitive epilepsies), wherever appropriate.

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.

The Clinical Characteristics and Treatment Response in Children with West Syndrome in a Developing Country: A Retrospective Case Record Analysis

This study describes the clinical characteristics, treatment, and outcome of children with West syndrome in a tertiary care hospital in north India. Overall, 310 case records diagnosed from January 2009 to June 2012 were reviewed. The median age of onset of spasms was 5 months (interquartile range = 2.5-7 months). The predominant underlying etiology was perinatal cerebral ischemia (55%). Adrenocorticotropic hormone or oral steroids were received by 92% children, of whom 43% became seizure free. Median lag time for appropriate treatment initiation was significantly less in patients who became seizure free as compared to those with persisting seizures (11 vs 15 months, P = .001) soon after receiving treatment of choice. Later age at onset of spasms was associated with a favorable seizure outcome (P = .03). In a resource-limited setting, unawareness along with treatment costs and repeated visits to the hospital are significant obstacles to optimum management.

Menkes disease - An important cause of early onset refractory seizures.

Context: Menkes disease is an X-linked multisystem disorder characterized by early onset of cerebral and cerebellar neurodegeneration, fair skin, hypopigmented sparse hair and connective tissue abnormalities. Aims: We aimed to evaluate the clinical, electrophysiological and radiological features of children with Menkes disease seen at our institute. Setting/Design: The medical records of children diagnosed with Menkes disease admitted in the pediatric neurology ward or attending the special pediatric neurology clinic at a tertiary care and a referral hospital in North India, from January 2010 to December 2012, were retrospectively reviewed. The clinical data of each case was subsequently summarized and reported. Statistical analysis used: Descriptive statistics were used. Results: During the study period, 1174 children were seen. Out of these, 6 cases were diagnosed as Menkes disease on the basis of clinical phenotype, low serum copper and ceruloplasmin and supportive neuroimaging. All the children were males and had disease onset within 3 months of age, with 4 children presenting in the neonatal period. Global developmental delay and refractory seizures were the predominant clinical symptoms. Two children had symptomatic West syndrome. Other seizure semiologies included tonic-clonic (4), myoclonic (2) and tonic seizures (1). The electroencephalographic abnormalities included hypsarrythmia (2) and multifocal epileptiform discharges (3). The salient radiological features included white matter changes, temporal lobe abnormalities, global atrophy, subdural hygromas and tortuous cerebral blood vessels. Conclusions: Menkes disease should be suspected in a case of refractory early onset seizures especially in the presence of subtle clinical clues. The neuroimaging findings may further support the diagnosis.

Neuroblastoma presenting as opsoclonus-myoclonus: A series of six cases and review of literature

The opsoclonus-myoclonus ataxia syndrome (OMAS) also called “Kinsbourne syndrome” or “dancing eye syndrome” is a rare but serious disorder characterized by opsoclonus, myoclonus, and ataxia, along with extreme irritability and behavioural changes. Data on its epidemiology, clinical features, and outcome are limited worldwide. The aim of the study was to evaluate the clinical profile and outcome of children with OMAS. A retrospective data of all children presented to Pediatric oncology clinic with a diagnosis of opsoclonus-myoclonus from 2013 to 2016 were collected. 6 patients with a diagnosis of OMAS were presented over a 4-year period. All 6 cases had paraneoplastic etiology. All Children had good outcome without any relapse. Paraneoplastic opsoclonus myoclonus had a good outcome in our experience.

Encephalocraniocutaneous Lipomatosis With Neurocutaneous Melanosis

Encephalocraniocutaneous lipomatosis is a rare neurocutaneous syndrome characterized by classical cutaneous and ocular lesions with central nervous system anomalies. We describe an infant with classical encephalocraniocutaneous lipomatosis characterized by probable naevus psiloliparus, frontal subcutaneous lipomas, ocular limbal dermoids and arachnoid cysts, and ventriculomegaly. He also had giant congenital nevus with leptomeningeal melanosis. This case represents a rare association between encephalocraniocutaneous lipomatosis and neurocutaneous melanosis.

Dystrophinopathy Diagnosis Made Easy Skin Biopsy, an Emerging Novel Tool

Dystrophinopathies are diagnosed by genetic studies and muscle biopsy. Most centers have multiplex polymerase chain reaction facilities diagnosing 65% to 70% of dystrophinopathy cases. Muscle biopsy is a time-consuming, invasive procedure whereas skin biopsy is a simple procedure done under local anesthesia. The current study evaluated the diagnostic accuracy of skin biopsy in dystrophinopathy. Overall, 119 confirmed cases of muscular dystrophy (111 males and 8 females) were included in the final analysis, of which 100 (all males) were dystrophinopathy. Skin biopsy diagnosed dystrophinopathy in suspected muscular dystrophy patients with a sensitivity of 98% (92.3%-99.7%), specificity of 99% (93.7%-99.9%), positive predictive value of 94.7% (71.9%-99.7%), and negative predictive value of 90% (66.9%-98.2%). Skin biopsy can be used for screening dystrophinopathy in muscular dystrophy patients (high sensitivity and positive predictive value). It being a simple and minimally invasive procedure, histopathologic and molecular markers of disease progression and response to novel treatment options can be assessed serially.

Seizure and radiological outcomes in children with solitary cysticercous granulomas with and without albendazole therapy: A retrospective case record analysis

Neurocysticercosis, parasitic infestation of the central nervous system by the Taenia solium larvae, is a major public health problem, primarily in the developing countries. Seizures are the primary clinical manifestation which could be acute (secondary to active lesions) or remote symptomatic (due to calcified lesions). Cysticidal therapy is the standard of care for solitary parenchymal active neurocysticerci. However treatment related side effects and tendency to spontaneous resolution raises concern from time to time whether cysticidal therapy is actually required. This is a retrospective case record analysis of two groups of patients with solitary parenchymal neurocysticerci (group A; 171 patients between 2000 and 2004 who did not receive cysticidal therapy, group B; 512 patients between 2008 and 2013 who received cysticidal therapy). Group B had significantly more radiological resolution of lesions whereas group A reported significantly more seizure recurrences on antiepileptics. There was no significant difference in occurrence of calcification in the two groups. Overall patients with calcified lesions had significantly more breakthrough seizures. Well designed prospective studies should be planned in future to understand the mechanism underlying the epileptogenicity of calcified lesions and how they are linked to host and environment factors.