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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 opisthotonos and cyanosis, alongside hypotonia noted on examination.

Purpose of the Study:

  • To investigate the underlying cause of developmental decline and seizures in a preterm infant.
  • To evaluate the diagnostic utility of neuroimaging and metabolic testing in complex pediatric neurological cases.

Main Methods:

  • Clinical history and physical examination.
  • Electroencephalography (EEG) to assess seizure activity.
  • Brain Magnetic Resonance Imaging (MRI) with spectroscopy for structural and metabolic evaluation.
  • Review of past and recent laboratory findings, including serum lactate, alanine, and citrulline levels.

Main Results:

  • EEG revealed frequent bilateral parietal epileptiform discharges, indicating significant brain dysfunction.
  • Persistent elevation of serum lactate and alanine levels suggested an underlying metabolic derangement.
  • Previous low citrulline levels at birth, initially attributed to other causes, were re-evaluated in light of new findings.

Conclusions:

  • The infant's presentation points towards a complex metabolic disorder impacting neurological development and function.
  • Further investigation, including advanced metabolic and genetic testing, is warranted to identify the specific diagnosis.
  • Prompt initiation of symptomatic treatment, such as lacosamide for seizures, is essential while pursuing definitive diagnosis.