Subacute Sclerosing Panencephalitis (SSPE): Experience from a Tertiary-Care Pediatric Center.

Introduction Subacute sclerosing panencephalitis (SSPE) is a devastating neurodegenerative disease occurring as a complication of measles infection that is still prevalent in low-resource countries. Clinical and electrographical variability in SSPE can lead to diagnostic delays. Methods Children diagnosed with SSPE in a tertiary care pediatric hospital in India in a period of 8 years were included in the study. The diagnosis was established on the basis of Dyken's criteria. The demographic data, clinical presentations, investigations, treatment approaches, and outcomes were reviewed and recorded. Results Thirty-four patients were included in the analysis. Average age at symptom onset was 7 years, 5 months. Majority of the children were not vaccinated for measles. Most patients (80%) presented with stage 2 of illness. Nearly 25% presented with atypical clinical features. Myoclonus was the most predominant feature seen after diagnosis. Electroencephalography (EEG) was the most useful investigation for suspecting the diagnosis. All patients showed deterioration in neurological status with time and 20% died during follow-up. Conclusion Atypical presentations of SSPE must be recognized in areas with high incidence to institute timely treatment and establish prognosis. EEG findings were found to be the most important indicator for diagnosis. Measles eradication will pave the way for elimination of this dreaded disease.

ITPA-associated developmental and epileptic encephalopathy: characteristic neuroradiological features with novel clinical and biochemical findings.

Developmental and epileptic encephalopathies (DEE) in children have an everexpanding range of rare causes. Mutations in ITPA have been recently described as causative of DEE, but only a small number of patients have been reported so far. We describe two Indian children with novel variants in the ITPA gene. Both patients had characteristic, previously described, neuroradiological findings that helped us suspect this condition even before genetic evaluation. In addition, we present new and rarely reported clinical findings associated with this condition: migrating partial epilepsy, fever-triggered seizures, movement disorder including oculogyria and dystonic tremor. One of the patients also had high cerebrospinal fluid glycine levels. Both patients had drug-responsive epilepsy, in contrast to drug-resistant seizures in previously reported patients. These patients reiterate the utility of awareness of specific neuroradiological findings and subsequent genetic evaluation to help make a precise diagnosis. Our report also extends the clinical spectrum and provides insight into possible biochemical causes for the neuroimaging findings seen in this condition.

CK syndrome: a rare cause of developmental delay in a young boy.

CK syndrome is a rare disorder caused by mutation in the NSDHL (NAD(P) dependent steroid dehydrogenase-like) gene at the Xq28 locus. It has expanded the spectrum of disorders associated with X-linked mental retardation and defects in sterol metabolism. There are only a few reports defining the phenotypic spectrum of this rare disorder. We describe a new patient from the Indian subcontinent who presented with dysmorphism, global developmental delay and epilepsy. We also add left ventricular concentric hypertrophy and sensory neuropathy, which have not been reported previously. Our report suggests that CK syndrome may be unrecognized due to limited clinical knowledge and restricted availability of genetic testing. The expansion of the phenotype may also lead to a better understanding of biochemical anomalies and management approaches.

Non-classical lipoid adrenal hyperplasia presenting as hypoglycemic seizures.

Introduction Primary adrenal insufficiency is a potentially life-threatening condition that can have many underlying causes. Mutations in the steroidogenic acute regulatory protein (StAR) gene produce lipoid congenital adrenal hyperplasia (LCAH) which usually presents in the infantile period with severe symptoms of adrenal insufficiency. Less commonly, a non-classical form is identified which may present at a later age in affected individuals. Till date, around 30 individuals with the non-classical form have been described. Case presentation We describe a 4-year-old 46, XX Indian girl who presented with hypoglycemic seizures and was subsequently diagnosed as non-classical LCAH on genetic analysis, with homozygous R188C mutation in the StAR gene. Conclusions StAR mutations may have a variety of clinical presentations and are likely under-diagnosed. Genetic diagnosis is important for treatment as well as monitoring of reproductive function.

Severe Factor X Deficiency Presenting as Febrile Seizure in an Infant.

Factor X deficiency is a severe inherited coagulation disorder, which is characterized by severe systemic bleeding manifestations in affected individuals. It is a rare disorder with a frequency of around 1:1,000,000 in the general population. We present the case of an infant with factor X deficiency who presented with complex febrile seizure. Although febrile seizures are very common in children, a closer scrutiny leads to neuroimaging and finding of intracranial bleed. Hematologic and genetic investigations confirmed the diagnosis. A high index of suspicion should be maintained to diagnose uncommon bleeding disorders in children.