Establishment of Age Specific Reference Interval for Aminoacids and Acylcarnitine in Dried Blood Spot by Tandem Mass Spectrometry.

The Extended Screening for Inborn Errors of Metabolism is done for aminoacidopathies, fatty acid oxidation disorders and organic acid disorders. In a single dried blood spot, the tandem mass spectrometry is capable of measuring multiple analytes like amino acids, acylcarnitines, nucleosides, succinylacetone and lysophosphatidylcholines. This study was proposed to establish age specific reference internal for aminoacids and acylcartinitine in dried blood spot by tandem mass spectrometry.

Two-Year Follow-up of Isolated Epileptiform Discharges in Autism: An Endophenotypic Biomarker?

Context: A significant subset of autistic children exhibit abnormal isolated epileptiform discharges (IEDs) in the absence of clinical epilepsy. The etiological significance of such IEDs is under much debate.

Aims: The aim is to study the relationship between IEDs with risk factors, clinical severity, behavioral problems, and social-quotient and follow-up for the occurrence of new seizures.

Fazio Londe syndrome: A treatable disorder.

Fazio Londe Syndrome is a rare neurological disorder presenting with progressive bulbar palsy with respiratory failure. Initially considered to have an unrelenting course, is now found to be due to mutations in the SLC52A3 gene which encodes the intestinal (hRFT2) riboflavin transporter in some children. We report an 11-year-old child with features of Fazio Londe syndrome who presented to our Institute with respiratory failure.

hypertensive intracranial bleed due to mid aortic syndrome.

The authors describe an 11-y-old child with intracranial bleed due to malignant hypertension. Child presented with hypertension, right hemiparesis, feeble femoral pulses and lower limb blood pressure less than the upper limb. CT angiogram revealed narrowing of the abdominal aorta with thinned out left renal artery and hypoplasia of the left kidney.

Megalencephalic leukoencephalopathy with subcortical cysts.

Megalencephalic leukoencephalopathy with subcortical cysts is a rare disease first described in 1995. It is characterized by macrocephaly and early onset white matter degeneration. We report two siblings who were diagnosed to have this disease.