Whole genome sequencing followed by functional analysis of genomic deletion encompassing ERCC8 and NDUFAF2 genes in a non-consanguineous Indian family reveals dysfunctional mitochondrial bioenergetics leading to infant mortality.

Genomic investigations on an infant who presented with a putative mitochondrial disorder led to identification of compound heterozygous deletion with an overlapping region of ∼142 kb encompassing two nuclear encoded genes namely ERCC8 and NDUFAF2. Investigations on fetal-derived fibroblast culture demonstrated impaired bioenergetics and mitochondrial dysfunction, which explains the phenotype and observed infant mortality in the present study. The genetic findings from this study extended the utility of whole-genome sequencing as it led to development of a MLPA-based assay for carrier screening in the extended family and the prenatal testing aiding in the birth of two healthy children.

Favorable response to classic ketogenic diet in a child with anti-GAD 65 antibody mediated super refractory status epilepticus.

Autoimmune encephalitis refers to a spectrum of inflammatory brain diseases which can present as drug-resistant seizures in children. Hereby, we report a case of anti-GAD-65 antibody encephalitis in a 7-year-old child who presented with superrefractory status epilepticus (SRSE). The traditional management with multiple anti-seizure medications at appropriate dosage and immunotherapy was tried despite which the child continued to have seizures. Hence the child was initiated on a classic ketogenic diet. He achieved ketosis within 48 h of diet initiation and there was a drastic reduction in the seizure frequency followed by a completed remission. Hence, this non-pharmacological intervention was an effective adjunct in achieving seizure control in our patient. A ketogenic diet has been sparingly used for the management of post-encephalitic epilepsy and autoimmune epilepsy. However, the data onthe effectiveness of the ketogenic diet in the management of autoimmune encephalitis is scarce. Starting KD early in the disease course helped not only in seizure control but also preserved the cognitive and neurological well-being of the child.

Acute Encephalopathy with Biphasic Seizures and Late Reduced Diffusion Associated with Dengue Infection in a Child.

Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a clinico-radiological syndrome in children secondary to viral or bacterial infections. The causes include viral (influenza, human herpes virus-6, adenovirus, rota) as well as bacterial infections. However, AESD with dengue infection has not been reported earlier. Here, we present an infant with dengue infection and AESD which recovered completely following treatment with intravenous human immunoglobulin therapy. A 9-month-old girl presented with seizures following fever and loose stools. Seizures recurred after 2 days of seizure-free interval. Cerebrospinal fluid analysis was not contributory. Dengue infection was confirmed by lab tests. Magnetic resonance imaging brain after the second seizure revealed diffusion restriction involving the bilateral frontal and parietal white matter, both hemispheres with a typical central perisylvian sparing lesion suggestive of AESD. This case report expands the reported spectrum of neurological manifestations of dengue infection.