Rachana Dubey

Development and validation of AIIMS modified INCLEN diagnostic instrument for epilepsy in children aged 1 month–18 years

OBJECTIVES There is shortage of specialists for the diagnosis of children with epilepsy, especially in resource limited settings. Existing INCLEN (International Clinical Epidemiology Network) instrument was validated for children aged 2-9 years. The current study validated modifications of the same including wider symptomatology and age group. METHODS The Modified INCLEN tool was validated by a team of experts by modifying the existing tools (2-9 years) to widen the age range from 1 month to 18 years and include broader symptomatology in a tertiary care teaching hospital of North India between January and June 2015. A qualified medical graduate applied the candidate tool which was followed by gold standard evaluation by a Pediatric Neurologist (both blinded to each other). RESULTS A total of 197 children {128 boys (65%) and 69 girls (35%)}, with a mean age of 72.08 (±50.96) months, completed the study. The sensitivity, specificity, positive and negative predictive value, positive and negative likelihood ratio of the modified epilepsy tool were 91.5% (84.5-96.1), 88.6% (80.0-93.5), 89.7% (81.9-95.3), 90.8% (83.7-95.7), 8 (6.6-9.8) and 0.09 (0.07-0.12) respectively. SIGNIFICANCE The new modified diagnostic instruments for epilepsy is simple, structured and valid instruments covering 1month to 18 years for use in resource limited settings with acceptable diagnostic accuracy. All seizure semiologies as well as common seizure mimics like breath-holding spells are included in the tool. It also provides for identification of acute symptomatic and febrile seizures.

Finger drop sign: Rare presentation of a common disorder.

BACKGROUND Guillain Barre syndrome (GBS) commonly presents with limb weakness and occasional cranial nerve, respiratory or autonomic involvement. Isolated or predominant bilateral finger drop as presenting feature has never been reported in the pediatric age group. CASE A 9-year-old boy presented with deformity of both hands for 7 days and leg pain with difficulty in getting up from floor for 3 days. On examination he had bilateral clawing with subtle hip flexor weakness and hyporeflexia. His nerve conduction study revealed motor axonal neuropathy. His serum lead levels and autoimmune markers were within normal limits. His cerebrospinal fluid examination revealed albuminocytological dissociation. He was diagnosed as GBS and was given intravenous immunoglobulin. He improved completely over next 8 weeks. CONCLUSIONS GBS is one of the commonest causes of acquired neuropathy in the tropics. In resource limited setting, where electrophysiological facilities may not be available, identification of finger drop sign may help in correct management.

Leukodystrophy presenting as acute-onset polyradiculoneuropathy.

BACKGROUND Sulfatides, the most abundant glycosphingolipids, are a major component of myelin. They are degraded by the combined action of sphingolipid activator protein and arylsulfatase A. Deficiency of either of these entities causes metachromatic leukodystrophy (MLD). On the basis of age of onset, this entity is divided into late infantile, juvenile, and adult subtypes. Late infantile form, the commonest subtype, can exhibit peripheral neuropathy as the initial manifestation. The other two forms usually manifest peripheral neuropathy later in the disease course. PATIENT A 1.5-year-old girl with preexisting isolated motor delay presented with acute-onset ascending flaccid quadriparesis, ptosis, and respiratory failure. Ptosis and respiratory failure responded completely to intravenous immunoglobulin, whereas quadriparesis showed minimal improvement. Nerve biopsy revealed metachromatic granules with demyelination, and serum arylsulfatase A levels were undetectable. CONCLUSION The severity and nature of the disease coupled with the response to immunotherapy makes this case unusual. This child may represent either an atypical presentation of MLD with coincidental response to immunotherapy or an episode of immune mediated neuropathy in an individual with already diseased nerves due to MLD.

Development of All India Institute of Medical Sciences-Modified International Clinical Epidemiology Network Diagnostic Instrument for Neuromotor Impairments in Children Aged 1 Month to 18 Years

Introduction There is shortage of specialists for the diagnosis of children with neuromotor impairments (NMIs), especially in resource limited settings. Existing International Clinical Epidemiology Network (INCLEN) instrument for diagnosing NMI have been validated for children aged 2–9 years. The current study modified the same including wider symptomatology and age group (1 month to 18 years). Methods The Modified INCLEN diagnostic tool (INDT) was developed by a team of experts by modifying the existing tool to widen the age range (1 month to 18 years) and include broader symptomatology (inclusion of milestones from the first 2 years of life and better elucidation of cerebellar and extrapyramidal features) in a tertiary care teaching hospital of North India between January and April 2015. A trained medical graduate applied the candidate tool, which was followed by gold standard evaluation by a Pediatric Neurologist (both blinded to each other). Results A total of 197 children (102 with NMI and 95 without NMI) were enrolled for the study. The sensitivity, specificity, positive and negative predictive values, positive and negative likelihood ratio of the modified NMI tool were 90.4% (82.6–95.5), 95.5% (88.7–98.7), 95.5% (88.9–98.7), 90.3% (82.4–95.5), 19.9 (12.1–32.6), and 0.13 (0.08–0.12), respectively. Conclusion The All India Institute of Medical Sciences modified INDT NMI tool is a simple and structured instrument covering a wider symptomatology in the 1 month to 18 years age group with acceptable diagnostic accuracy.

Bilateral ophthalmoplegia in a child with migraine

BACKGROUND In children, migraine with or without aura is a common entity, however variants like recurrent painful optic neuropathy (RPON) is rarely encountered. CASE RESULT A 9 year old boy presented with headache for 1 week and restricted movements and drooping in both eyes for last 3 days. On examination he had bilateral ophthalmoplegia and ptosis. History of migrainous headache was present in the patient as well as his mother. His MRI brain with venogram, serum autoimmune markers, serum and urine toxicology screen and repetitive nerve stimulation test were normal. He received intravenous pulse followed by oral steroids for 6 weeks and was started on antimigraine prophylaxis. Eighteen months since the attack, he has improved completely with mild asymmetric mydriasis persisting. DISCUSSION AND CONCLUSION This may represent first attack of RPON in a child with migraine. Rarely this may herald the onset of migraine as well, index of suspicion should be high as it is a diagnosis of exclusion and a treatable entity.

A Trembling Child at Rest, Action, and Intention: A Unique Treatable Entity

Rachana Dubey MD, Lokesh Saini MD, Ranjith Kumar Manokaran MD, Biswaroop Chakrabarty DM, Deepak Agrawal MCh , Atin Kumar MD , Sheffali Gulati MD* a Child Neurology Division, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India Department of Neurosurgery, All India Institute of Medical Sciences, New Delhi, India Department of Radiodiagnosis, All India Institute of Medical Sciences, New Delhi, India

Adaptive Functioning and Feeding Behavior: Key Targets in Autism Management

Autism is a neurodevelopmental disorder with an onset in early childhood. Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) describes Autism spectrum disorders (ASD) as social communication impairments and restricted, repetitive patterns of behavior. Children with ASD exhibit delayed language development, difficulties in reciprocal communication and social skills, stereotypic behaviors, and sensory impairments. In March 2014, the Centers for Disease Control and Prevention (CDC) reported prevalence of ASDs as 1 in 68 children in multiple communities in the United States. This new prevalence is 30 % higher than previous estimates reported in 2012 of 1 in 88 [1]. Similar trends have been observed globally and it is not difficult to foresee that in coming decades we will have increasing number of adolescents and adults with autism. Overall long-term outcome of children with autism, when followed to adulthood remains poor and more than three fourth of them may require life long assistance in daily living. Language communication development before age of 6 years and high childhood IQ have been shown to be critical for a Bgood^ outcome [2]. It has been suggested that some children with ASD improve to such an extent that they may outgrow their diagnosis, also known as ‘optimal outcome’. It is interesting and important to know how this group is different than high functioning autism. Optimal outcome children do better on adaptive and problem behavior scores when compared to high-functioning peers with ASD. Contrary to common belief, the high functioning group may continue to show pragmatic, linguistic, social, and behavioral difficulties. The optimal outcome children are likely to be diagnosed at younger ages and more likely to receive intensive early intervention [3].

An 11-month-old boy with refractory epilepsy: Answer

The patient’s MRI (Fig. 1 of Images in Neuroscience: Question) shows right hemispheric lissencephaly of the temporo-parietooccipital region with frontal sparing (long arrows). There is associated right subcortical band heterotopia (arrowheads in A and B) and focal left sided subependymal nodular heterotopias (short arrows in A and B). Lissencephaly and the related malformation, subcortical band heterotopia, are classical neuronal migration defects [1]. Lissencephaly denotes a smooth brain with areas of absent and abnormally wide gyri (agyria and pachygyria, respectively), whereas subcortical band heterotopia indicates a double cortex condition [2]. The most common clinical presentation is epilepsy followed by global developmental delay, early infantile hypotonia, feeding difficulty and ophisthotonus [3]. Brain MRI displays a spectrum which varies from agyria (grade 1 and 2) to pachygyria (grade 3 and 4) to normal convolutions separated by narrow sulci overlying a heterotopia. In most patients a gradient exists between anterior and posterior regions. They may have associated corpus callosum and cerebellar hypoplasia. Recognition of these patterns enables focused molecular diagnosis, prognostication and estimation of genetic risk. To our knowledge, six associated genes have been described: LIS 1 (posterior predominance), DCX (anterior predominance), RELN and VLDLR (anterior predominant lissencephaly

An 11-month-old boy with refractory epilepsy: Question

An 11-month-old boy presented with global developmental delay, refractory seizures (left focal clonic and left hemispasm) and paucity of movement of the left half of his body since early infancy. Antenatal, neonatal, and family history were noncontributory. Salient features on examination were normal anthropometry, no neurocutaneous markers or dysmorphic features, subnormal cognition, left hemiparesis, and normal vision and hearing. His electroencephalogram revealed modified hypsarrhythmia. He underwent MRI of the brain (Fig. 1). 2. The most likely diagnosis is:

Isolated Cerebellar Involvement in Vitamin B12 Deficiency A Case Report

Deficiency of vitamin B12 causes megaloblastic anemia and nervous system demyelination. Structures affected in the nervous system include spinal cord, cranial and peripheral nerves, and brain white matter. A 9-year-old boy presented with knuckle hyperpigmentation and oral ulcers for 3 years, pallor and easy fatigability for 6 months, gait abnormalities for 3 months, and abnormal speech and behavioral abnormalities for 3 days. On examination, he had physical signs of megaloblastic anemia, mood swings with intermittent hallucinations, and features of cerebellar impairment. Blood investigations revealed megaloblastic anemia, and pernicious anemia was ruled out. Brain magnetic resonance imaging (MRI) revealed bilateral cerebellar signal changes. He received treatment for vitamin B12 deficiency and appropriate nutritional counseling. Three months later, he showed significant clinical and radiologic resolution. To our knowledge, isolated cerebellar involvement as the sole neurologic manifestation of vitamin B12 deficiency has not been described previously in children.