ICNC Abstracts, ICNC 2018

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Clinico-biochemical profile and outcome of children with Inborn Errors of Metabolism (IEM)
Bidisha Banerjee, Supriya Shinde, Rita Christopher

Last modified: 2018-09-09

Abstract


Introduction: IEM though heterogenous are not uncommon. Neurologic manifestations predominate1. Lack of universal newborn screening, awareness and resources delay diagnosis. Early treatment ameliorates neuromorbidity. Hence this study to understand presentation, diagnostic clues and outcome.

Methodology:  Thirty-four children(post-neonatal) received a diagnosis of small molecule IEM between 2008 and 2018 in a tertiary care hospital. Clinical and laboratory data were retrospectively retrieved and analyzed.

Results: Average age was 18.6 months​ ​at symptom onset (M:F ratio 1.1). Average delay in diagnosis was 11.2 months. Organic- acidurias(OA) were diagnosed in 18/34 (52.9%), urea-cycle disorders(UCED) in 9/34 (26.5%), aminoacidopathies (AA) in 4/34 (11.7%) and fatty acid oxidation disorders(FAOD) in 3/34 (8.8%). Mode of presentation was chronic encephalopathy in 21 (61.8%) with regression in 7, acute encephalopathy 8 (23.5%), metabolic myopathy 1; 4 diagnosed on newborn screen, 2 with affected sibs. Developmental delay (38.2%), seizures (32.4%), tone abnormalities (61.8%), movement disorder and ataxia (14.7%) each, failure to thrive (20.6%) were noted. Positive family history in 11/34 (32.4%). Tandem mass spectrometry(TMS) was done in 29, diagnostic/suggestive in 26 and normal in 3. In 11 children, MRI helped clinch the diagnosis. Normal neuro-developmental outcome was seen in 9 (26.5%), mild neurodeficit in 12 (35.3%), severe neurodeficits in 5 (14.7%) with 2 deaths (5.9%); follow-up unavailable in 6 (17.6%). Conclusion: Chronic encephalopathy is common presentation of late-onset IEM. Neuroimaging and TMS are useful in etiologic diagnosis.

References:

  1. Christopher R. Ann Indian Acad Neurol 2008 Apr;11(2):68-81.


Keywords


IEM, metabolic, chronic encephalopathy

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