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Case 321.

Bilal Hai1, Jonathan Guntin1, Anil G Rao1

  • 1From the Department of Radiology, University of Illinois Hospital and Health Sciences System, 1740 W Taylor St, Chicago, IL 60612.

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Summary
This summary is machine-generated.

This case study highlights a 9-month-old infant with developmental regression and seizures. Persistent elevated lactate and alanine levels suggest a metabolic disorder impacting neurological function.

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Area of Science:

  • Pediatric Neurology
  • Neurodevelopmental Disorders
  • Metabolic Disorders

Background:

  • A 9-month-old preterm infant exhibited a 2-month history of developmental regression, including loss of social interaction and motor skills.
  • The infant experienced recurrent seizures characterized by stiffness, staring, and cyanosis, prompting neurological consultation.

Purpose of the Study:

  • To investigate the underlying cause of developmental decline and seizures in a preterm infant with abnormal metabolic markers.
  • To evaluate the neurological findings and guide diagnostic workup for a complex pediatric case.

Main Methods:

  • Clinical presentation and developmental history documented.
  • Neurological examination revealed hypotonia.
  • Electroencephalography (EEG) showed bilateral epileptiform discharges.
  • Brain MRI with spectroscopy performed for further evaluation.
  • Laboratory analysis revealed persistently elevated serum lactate and alanine levels.

Main Results:

  • EEG confirmed frequent bilateral parietal epileptiform discharges.
  • MRI and spectroscopy results are pending further analysis.
  • Previous low citrulline levels and normal urea cycle testing noted.
  • Elevated serum lactate and alanine levels suggest a potential metabolic etiology.

Conclusions:

  • The infant's presentation suggests a possible inborn error of metabolism contributing to neurological decline and seizures.
  • Further investigation is warranted to identify the specific metabolic pathway affected.
  • Early diagnosis and intervention are crucial for managing neurodevelopmental and metabolic disorders in infants.