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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.
Insights
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.
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.
History:
A 9-month-old preterm male infant born at 33 weeks gestation presented with a 2-month history of developmental decline. The parents reported that over the past several months, they noted regression of milestones, where the infant stopped smiling, crying, expressing himself, or making eye contact. The parents also reported that the infant had multiple seizures during which he would wake up stiff and stare into space for 10-20 seconds while his lips would become blue. The parents were referred to a neurologist, where physical examination was notable for hypotonia. Electroencephalography (EEG) revealed frequent bilateral parietal epileptiform discharges. The patient was subsequently started on lacosamide. The patient's medical history was notable for abnormally low citrulline levels at birth, with negative results of urea cycle disorder testing at the time, along with left inguinal hernia repair performed 3 months ago. More recent laboratory analysis had shown persistently elevated serum lactate and alanine levels. There was no history of travel, recent infection, or vaccine administration. MRI of the brain with spectroscopy was performed for further evaluation (Figs 1-6).
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