Related Experiment Video

Updated: Oct 1, 2025

Early Pathological and Magnetic Resonance Detection of Cerebral Injury Using a Rat Model of Neonatal Hypoxic Ischemic Encephalopathy
05:52

Early Pathological and Magnetic Resonance Detection of Cerebral Injury Using a Rat Model of Neonatal Hypoxic Ischemic Encephalopathy

Published on: October 28, 2022

858

Metabolic Disorders among Children Presenting with Acute Encephalopathy

Kirti Singhal1, Meenakshi Bothra2, Seema Kapoor1

  • 1Department of Pediatrics, MAMC and LNJP Hospital, Delhi, 110002, India.

Indian Journal of Pediatrics
|March 7, 2022
PubMed

Insights

Inborn errors of metabolism (IEM) are a significant cause of noninfectious encephalopathy (NIE) in Indian children. Early diagnosis and high suspicion are crucial for effective management of these metabolic disorders.

Area of Science:

  • Pediatric Neurology
  • Metabolic Disorders
  • Neuroscience

Background:

  • Acute noninfectious encephalopathy (NIE) presents a diagnostic challenge in pediatric populations.
  • Identifying the underlying etiology is critical for appropriate patient management and prognosis.
  • Inborn errors of metabolism (IEM) are a potential, often overlooked, cause of NIE.

Purpose of the Study:

  • To elucidate the clinical and etiological profile of children diagnosed with NIE.
  • To determine the prevalence of IEM among children presenting with NIE in a tertiary care setting.
  • To highlight the diagnostic approaches for IEM in the context of NIE.

Main Methods:

  • A descriptive cross-sectional study was conducted involving children aged over 28 days and under 12 years with acute encephalopathy, excluding CNS infections.
  • Participants were evaluated using a structured proforma and a sequential battery of diagnostic tests.
  • Suspected IEM cases underwent tandem mass spectrometry/gas chromatography-mass spectrometry (TMS/GCMS) and mutation analysis for confirmation.

Main Results:

  • Fifty children with NIE were recruited; 18% (9 children) were diagnosed with IEMs, including lactic acidosis, glutaric aciduria, isovaleric academia, and hyperhomocysteinemia.
  • The affected children ranged from 3 to 42 months, with a female predominance.
  • Key indicators for IEM included a history of affected siblings and parental consanguinity; MS/MS and mutation analysis were essential for diagnosis.

Conclusions:

  • Inborn errors of metabolism represent a substantial cause of noninfectious encephalopathy in the Indian pediatric population.
  • A high index of clinical suspicion is necessary for timely diagnosis and intervention in cases of NIE.
  • Metabolic investigations should be a key component in the etiological workup of acute noninfectious encephalopathy in children.
Abstract

Keywords:
ChildrenEncephalopathyEtiologyIEM

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