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Case 336.

Grammatina Boitsios1, Alec Aeby1, Alina Mihaela Andrei1

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This study details a case of a 10-month-old infant with progressive macrocephaly and developmental delay. Neuroimaging, including brain MRI and spectroscopy, was performed to investigate the infant's neurological condition.

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Area of Science:

  • Pediatric Neurology
  • Neuroimaging
  • Developmental Pediatrics

Background:

  • A 10-month-old infant presented with progressive macrocephaly, axial hypotonia, developmental delay, and limb stiffness.
  • The infant exhibited delays in motor milestones, such as head control and sitting, and lacked age-appropriate babbling.

Purpose of the Study:

  • To investigate the underlying cause of the infant's progressive neurological symptoms.
  • To utilize advanced neuroimaging techniques for diagnostic evaluation.

Main Methods:

  • Clinical assessment including neurological examination.
  • 3-Tesla (3T) Magnetic Resonance Imaging (MRI) of the brain.
  • Brain MRI included morphologic sequences and spectroscopy, with and without gadolinium contrast.

Main Results:

  • Neurological examination indicated progressive macrocephaly, axial hypotonia, and limb stiffness suggestive of spastic diplegia.
  • Electroencephalographic monitoring showed no abnormalities; no swallowing difficulties or seizures were reported.

Conclusions:

  • The comprehensive neuroimaging approach aimed to diagnose the complex neurological presentation in the infant.
  • Further analysis of MRI and spectroscopy data is crucial for determining the etiology and guiding management.