Arushi Gahlot Saini

Changes in the Clinical Spectrum of Cerebral Palsy over Two Decades in North India—An Analysis of 1212 Cases

BACKGROUND Clinical spectrum of cerebral palsy (CP) is different in developing and developed countries. We evaluated the clinical profile, etiological factors and co-morbidities of children with CP in North India, and compared with our previous study. METHODS 1212 children with CP registered in last 10 years in our rehabilitation center were compared with our previous study of 1000 children from same center. RESULTS Spastic quadriplegia is the commonest type of CP (51.5%) although lesser than previous decade (61%). Birth asphyxia remains the main (51.98%) etiological factor as earlier (45.3%). CP due to CNS infections decreased from 63.5% to 57.4%, due to bilirubin-encephalopathy remained same (∼30%). Speech problems (83.7%), microcephaly (64.27%), seizures (44.5%) and intellectual disability (38.61%) are common co-morbidities. Common neuroimaging findings include hypoxic-ischemic changes and periventricular leucomalacia. CONCLUSION The spectrum of CP is evolving in the developing countries with an increase in diplegic and a decrease in quadriplegic CP.

Latent Tuberculosis in Children: Diagnosis and Management

Control of tuberculosis in children often escapes attention because of the paucibacillary nature of the illness. However, they contribute much of the morbidity, mortality and future reservoir of the disease which reiterates the importance of risk-factor based screening for latent infection and appropriate treatment. We review the modalities and importance of diagnosis and treatment of latent tuberculosis infection in children. At this time, the role for interferon-gamma release assays in low-income, high-burden settings is rather limited but further research in the coming years might clear their role in children. An important emerging area of research is the development of an improved skin test for TB that uses specific mycobacterial antigens rather than tuberculin, thus is more feasible and useful in resource limited settings.

CNS vasculitis and stroke in neonatal lupus erythematosus: A case report and review of literature

Neonatal lupus erythematosus refers to the clinical spectrum of cardiac, cutaneous and other systemic abnormalities in neonates born to mothers with autoantibodies against Ro/SSA and La/SSB antigens. Isolated central nervous system involvement is very rare and has been described as transient vasculopathy only. We describe a 2-months-old girl who presented with acute ischemic stroke secondary to central nervous system vasculitis without any cardiac, cutaneous or hematological manifestations. The mother was pauci-symptomatic with raised anti-Ro autoantibody titers; the baby was positive for autoantibodies against Ro-antigen. Angiography confirmed vasculitis in cerebral vasculature. Our case highlights that neonatal lupus erythematosus can present with isolated nervous system manifestations and the vascular damage can be permanent in the form of vasculitis. Early recognition will help pediatricians identify such possible permanent complications in newborns with neonatal lupus erythematosus. A review of previously reported central nervous system manifestations of neonatal lupus is also presented.

Neurodevelopmental and Behavioral Outcomes in Children With Sepsis-Associated Encephalopathy Admitted to Pediatric Intensive Care Unit: A Prospective Case Control Study.

The authors prospectively compared the neurodevelopmental and behavioral outcomes in 50 consecutive children with sepsis-associated encephalopathy admitted to intensive care unit with healthy controls. Children with sepsis-associated encephalopathy had significantly worse mean verbal IQ, full-scale IQ, General Development Score, and its physical, adaptive, social-emotional, cognitive, and communication subscales. Significant proportion of cases (52% vs 32% in controls) had low intelligence. Decline in school performance (44%), disobedience (28%), and stubbornness/irritable behavior (26%) were the most common behavior changes. Children with Glasgow Coma Scale score ≤10 and ≤8 had impairments in full-scale IQ even though overall Glasgow Coma Scale score did not show significant correlation with developmental outcomes. In conclusion, children with sepsis-associated encephalopathy have delayed neurodevelopment, low verbal IQ, decline in school performance and low intelligence at short-term follow-up. Irritability, shock and duration of sedation are associated with poor behavioral outcomes, especially scholastic performance.

Unusual Clinical Presentation and Role of Decompressive Craniectomy in Herpes Simplex Encephalitis

Decompressive craniectomy in pediatric central nervous infections with refractory intracranial hypertension is less commonly practiced. We describe improved outcome of decompressive craniectomy in a 7-year-old boy with severe herpes simplex encephalitis and medically refractory intracranial hypertension, along with a brief review of the literature. Timely recognition of refractory intracranial hypertension and surgical decompression in children with herpes simplex encephalitis can be life-saving. Additionally, strokelike atypical presentations are being increasingly recognized in children with herpes simplex encephalitis and should not take one away from the underlying herpes simplex encephalitis.

Child maltreatment in India

Abstract Child maltreatment is a global problem but is more difficult to assess and manage in developing countries such as India where one-fifth of the world’s total child population resides. Certain forms of maltreatment such as feticide, infanticide, abandonment, child labour, street-begging, corporal punishment and battered babies are particularly prevalent in India. Most physicians still need to be sensitized in order to suspect child abuse on the basis of unexplained trauma, multiple fractures, parental conflict and other corroborative evidence. This article summarizes the various aspects of this major problem in resource-poor settings in the hope that it will assist in the planning of services addressing child physical and sexual abuse and neglect in India and in other developing countries. A culture of non-violence towards children needs to be built into communities in order to provide an environment conducive to the overall development of the child. Rehabilitation of abused children and their families requires a multi-disciplinary service including paediatricians, child psychologists and social workers, and the training of police forces in how to tackle the problem.

Pyruvate Dehydrogenase-E1α Deficiency Presenting as Recurrent Demyelination: An Unusual Presentation and a Novel Mutation

The nucleus-encoded mitochondrial pyruvate dehydrogenase enzyme complex plays key roles in cellular energy metabolism and acid-base equilibrium. Pyruvate dehydrogenase complex deficiency is due to loss-of-function mutation in one of the five component enzymes, most commonly E1α-subunit. The common clinical presentation ranges from fatal infantile lactic acidosis in newborns to chronic neurological dysfunction. We describe here an unusual presentation of E1α-subunit deficiency presenting as recurrent demyelination, Guillain-Barré syndrome-like demyelinating polyneuropathy at the onset, and ophthalmoplegia in a young infant. The clinical phenotype of the mutation in the patient was unique as compared to the previous reported cases of pyruvate dehydrogenase deficiency. The mother was found to be a mosaic carrier of the mutation. This phenotypic variability of pyruvate dehydrogenase complex deficiency and early suspicion of its unusual neurological manifestations is highlighted. Thiamine and ketogenic diet can be helpful.

Hyperactivity, unexplained speech delay, and coarse facies--is it Sanfilippo syndrome?

Mucopolysaccharidosis-IIIB or Sanfilippo-B syndrome is caused by deficiency of lysosomal α-N-acetylglucosaminidase that leads to accumulation of heparan-sulphate and degeneration of central nervous system with progressive dementia, hyperactivity, and aggressive behavior. Mucopolysaccharidosis-III remains underdiagnosed as a cause of developmental delay and hyperactivity both in adults and children because in contrast to other mucopolysaccharidoses, they have little somatic disease, coarse facial features, hepatosplenomegaly or skeletal changes, and a high incidence of false-negative results on the urinary screening tests. We describe here a girl with the classic phenotype of mucopolysaccharidosis-IIIB to alert pediatricians to the possibility of this disorder in children with unexplained speech delay and hyperactivity and prevent unnecessary investigations.

Childhood Anti-NMDA Receptor Encephalitis

ObjectivesTo study the clinical profile, and outcome of children with anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis.MethodsThis is a retrospective case series of children <12 y of age, diagnosed with anti-NMDAR encephalitis at a tertiary care institute during the period, May 2013 through June 2015.ResultsTwenty patients were tested for suspected anti-NMDAR encephalitis over this 2 y period. Of these, six children were positive for anti-NMDAR antibodies. Four of these six children had completed treatment and two are currently receiving immunotherapy. Behavioral changes, psychosis, seizures and oro-lingual-facial dyskinesia were the presenting features. Extreme irritability, insomnia and mutism were noted in all the children. The symptoms were persistent, and the course was progressive over 4–8 wk duration. Neuroimaging and electroencephalography were non-specific. Intravenous pulse methylprednisolone and immunoglobulins were used as first-line therapeutic agents. Only one patient responded to first line immunotherapy; five out of six children required second-line immunotherapy. One patient recovered following rituximab, and two patients showed a good response to cyclophosphamide pulse therapy; two patients are currently under treatment with second line immunotherapeutic agents. Tumor screen was negative in all children.ConclusionsAnti-NMDAR encephalitis is rare but a potentially treatable condition. Timely recognition is essential because treatment is entirely different from other viral encephalitis. Aggressive immunotherapy is the key to a favourable outcome.

Infantile metabolic encephalopathy due to fumarase deficiency.

Fumarase deficiency is a very rare inborn error of metabolism caused by decreased activity of fumarate hydratase enzyme. We describe a fumarase-deficient infant who presented with encephalopathy, metabolic crisis, psychomotor retardation, hypotonia, seizures, and facial dysmorphism. To our knowledge, this is the first Indian child to be described with fumarase deficiency.