Context: Several Enzymes carry out chemical reactions for the production of energy and carrying out normal functioning of the organism. Disorders of these functions can result in permanent damage to the child affecting multiple systems. Most metabolic disorders are at least controllable and therefore it is important to recognize them early for ensuring optimum growth and development. This involves proper pattern recognition by the clinician. Aims: In this study we are discussing a rare treatable metabolic disorder namely Hyperargininemia seen by the authors in the last seven years. Settings and Design: Various parameters of confirmed hyperargininemia patients were analysed. Methods and Material: It is a descriptive study where all patients were confirmed cases with red blood cell arginase levels <10. Statistical Analysis used: Descriptive statistical analysis, Mann-whitney test, spearman’s rho. Results: In this study we found consanguinity in 30 % of patients. At least one sibling was affected in 13 % of patients. Females were more in this group though the pattern remains AR. Symptom onset showed variability from less than 1 year to up to 17 years. Commonest clinical feature was cognitive dysfunction, spasticity, seizures, microcephaly and lesser number with extrapyramidal and cerebellar features. Failure to thrive and dysmorphic features were also seen. Conclusion: Hyperargininemia commonly manifests as regression, failure to thrive, spasticity, seizures with or without microcephaly. When the above phenotype is seen, it is mandatory to screen for urea cycle disorders.

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Aims and Objectives: Cerebral palsy (CP) is a common motor disability in children. This study aimed at elaborating various comorbidities and etiologies and also at correlating motor disability with other disabilities. Material and Methods: This hospital-based study was conducted in the outpatient department of a tertiary care hospital in Delhi on 160 children with CP in the age group 2–15 years. A detailed history taking and examination were conducted for each patient and appropriate investigations were performed. Results: Most patients, that is 64.4%, were younger than 5 years of age and 72.5% were males. Most common etiology was birth asphyxia (41.9%). Maximum patients were of bilateral spastic (spastic quadriplegic) CP accounting 43.1%. Intellectual disability was the most common comorbidity across all subtypes of CP followed by epilepsy. Comorbidities such as epilepsy and all visual problems except optic atrophy were more common in spastic quadriplegic CP. Hearing, speech impairment, and optic atrophy were more common in dyskinetic CP. Chewing, swallowing, and drooling problems were more common in spastic quadriplegic CP. Conclusion: Most common risk factor of CP is birth asphyxia; thus, by improving health care facilities, its incidence can be reduced. CP affects not only motor functions but also other important functions of body as well, and the more severe the motor disabilities, the more are other comorbidities and their intensity also increases with that of the intensity of brain insult.

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We describe a 10 year old boy who presented with acute onset rapidly progressing encephalopathy. MRI revealed bilateral insular cortex and basifrontal involvement suggesting Herpes encephalitis. He was treated with acyclovir and his symptoms improved. Six months after the first hospitalization he reported back with two episodes of partial seizures. He was started on Valproate. A week after starting valproate he was readmitted with hyperammonemic encephalpathy, on further investigations Citrullinemia Type 1 was diagnosed. This case highlights a metabolic disorder which radiologically mimics herpes encephalitis. The management of the disorder differs remarkably from herpes encephalitis and hence its recognition and suspicion based on radiology is critical.

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Hemispheric status epilepticus showing both macroscopic (MR angiography) and microscopic (arterial spin labelling) perfusion abnormalities with crossed cerebellar diachisis is an unusual and interesting phenomenon, which occurs following sequelae of various insults.

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Introduction: There is a paucity of literature on intracranial pressure (ICP) monitoring in children. The aim of this study was to ascertain whether ICP monitoring is useful in children with severe traumatic brain injury (TBI). Materials and Methods: Medical records of children between 1 and 12 years, admitted to neurocritical care unit with severe TBI in 2 years, were reviewed. The children were divided into two groups: study group (ICP monitored) and control group (ICP not monitored). Admission demographics, vital parameters, and computed tomographic scan findings were recorded. In the study group, date of ICP catheter insertion/removal with ICP values and treatment carried out for increased ICP were noted. Data on tracheostomy, duration of mechanical ventilation, hospital stay, and outcome at discharge were noted. Results: Demographic variables were comparable between the two groups. When adjusted for death, no significant difference was observed between the study and the control groups in median duration of mechanical ventilation: 35 days (95% confidence interval [CI]: 12–73) versus 55 days (95% CI: 29–55) (P = 0.96), hospital stay: 36 days (95% CI: 12–73) versus 58 days (95% CI: 29–58) (P = 0.96), and time to tracheostomy: 6 days (95% CI: 5–8) versus 5 days (95% CI: 4–7) (P = 0.49). Mortality rates, incidence of cranial surgeries, and outcome at discharge were also comparable. Conclusion: ICP monitoring did not reduce the incidence of death, cranial surgeries, duration of mechanical ventilation, hospital stay, or improve the outcome at discharge in children with severe TBI.

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Organophosphate (OP) poisoning is the most common poisoning in India, accounting for almost half of the hospital admissions due to poisoning. Delayed neuropathy is initiated by an attack on a nervous tissue esterase. Although uncommon, delayed neurotoxicity has been consistently reported in literature. This mechanism is implicated not only in damaging peripheral nervous system but also in causing central processes leading to myelopathy. We report a series of three adolescent patients who came to our hospital with delayed neurological manifestations of organophosphorus poisoning, which came out to be OP-induced myeloneuropathy after detailed analysis and evaluation.

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The histiocytic disorders are pathological diagnosis and rarely affects spine. The spinal involvement is characterized by lytic lesions and painful symptoms. Isolated intradural extramedullary involvement is rare presentation. A 15-year-old female patient presented with nontraumatic cervical compressive myelopathy and was operated electively with preoperative diagnosis of meningioma. The histopathology was surprisingly Langerhans cell histiocytosis. In lineage of histiocytic development, the Langerhans cells develop into matured dendritic cells and lose its Birbeck granules and CD1a antigenicity. With the understanding of histiocyte lineage system, the disorders concerned with central nervous system are classified into dendritic cell disorders and macrophages-related disorders. In this article, we have discussed on histiocytic disorders of central nervous system and management guidelines in case one comes across such histopathology.

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Background: Spina bifida (SB) (spinal neural tube [NT] defects) is basically caused by an abnormality at the closure of the NT. Materials and Methods: Molecular researchers have now got new etiopathogenesis of the defective neural tube closure. Although molecular mechanisms in the SB is really important taxation for further work. We understand through the unique novel mutant responsible genes and modifying genes and included the different molecular aspects of SB from the available tools and databases and excluded the case reports. Statistical Analysis: We use here simple statistics (percentage, mean, median, and average) through the Statistical Package for the Social Sciences (SPSS), version 14, and found P > 0.0001 to be significant. Results: We have reported that the majority of 90% genes are responsible in SB and their associated diseases. These innovative unique patterns of responsible genes attached with the result abnormalities at the neuronal and non neuronal tissues are equally important for the SB and NTC. Conclusion: Our present ideology is aiming to understand the inductive and direct interactions of the downstream target sites among responsible regulating genes (RRGs). It is an unique pattern of genetic roadmap to control and guides the neurulation and may provide further insights into the causes of SB and may help to develop new molecular-targeted therapy (MTT).

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Congenital heart diseases, hemolytic anemia, collagen vascular diseases, and neurometabolic disorders are known to be associated with the development of arterial ischemic stroke (AIS) in children. However, not all the children with the aforementioned conditions develop AIS. Hence, the possibility of interplay of various predisposing factors in children with inherent underlying medical conditions seems likely. Trauma, infections, and thrombophilic risk factors are well known to predispose to the development of AIS in children. Congenital hypoplasia of internal carotid artery (HICA) is a rare disorder in which patient may remain asymptomatic or may present with symptoms due to cerebrovascular insufficiency or compression by collateral vessels. We report a 7-year-old boy who presented with AIS and had a history of two transient ischemic attacks in the past 2 years. He was diagnosed to have congenital HICA. However, further evaluation revealed the presence of protein S deficiency as well. This case reemphasizes the need for investigation into multifactorial causation of pediatric AIS in every case.

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Chronic inflammatory demyelinating polyneuropathy (CIDP) is a chronically progressive or relapsing sensorimotor disorder presumably due to antibody-mediated reactions. It is a rare condition in children, with estimated prevalence as 0.48 per 100,000 among patients younger than 20 years of age. Recommended treatments include immune modulators, intravenous immunoglobulins (IVIgs), steroids, and plasmapheresis. Management of pediatric CIDP is challenging because of the lack of evidence-based efficacy of the current therapies in children. Because of the rarity of this condition, there are no double-blind randomized studies to support the therapeutic choice as well as to identify the optimal first-line therapeutic regimen. IVIgs are widely used but the intravenous administration is usually uncomfortable, especially for children. Subcutaneous immunoglobulins (SCIgs) have proven to be effective in adults with CIDP and in children affected by antibody deficiencies and other different immune and inflammatory disorders. Herein, we described the case of a 7-year-old boy, affected by CIDP who clinically responded to IVIg but was dependent on this therapy. In order to improve his quality of life, we switched to SCIg with excellent result.

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Introduction: White matter signal changes are common in wide spectrum of disorders other than primary demyelinating diseases. Knowledge into their characteristics is of great relevance as treatment options are available in most cases, if diagnosed early. Patient and methods: Patients both children and adults who showed radiological evidences of leukoencephalopathy which was not due to primary demyelinating disorders were evaluated in detail. Results: There were a total of 55 patients in the last 2 years. 58% patients were <10 years, 16% were <20years, 9% were <30 years and the rest of the patients were 40 and above. Commonest condition was ALD, followed by SSPE and Unclassified group. There were 3 cases each of MLD, Krabbe’s, Vanishing White Matter Disease and Hypomyelination. Discussion and Conclusion: White matter disorders belong to a wide spectrum of illnesses which varies from degeneration to a spectrum of other disorders. Correlating the clinical, radiological and other laboratory data are mandatory for proper diagnosis. Those who belong to older age with shorter duration and uncharacterized radiological features suffered from acquired treatable causes.

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