case_images: PMC11091239_01
case_images: Contrast-enhanced brain MRI images acquired at 18-months of age demonstrate smooth bilateral enhancement of multiple cranial nerves, including the oculomotor nerves, cisternal and intracanalicular segments of the facial nerves and the glossopharyngeal nerves (white arrows in A-C). Axial FLAIR image (D) shows no signal abnormality in the brain parenchyma.
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case_images: F1
case_images: Magnetic resonance imaging (MRI) with contrast revealed bilateral smooth enhancement of the oculomotor and glossopharyngeal nerves, with a possible bilateral enhancement of the cisternal and intracanalicular segments of the facial nerves (Figure 1).
case_images: Contrast enhanced MRI of the lumbar spine obtained at the same time of the brain MRI shows smooth enhancement of the cauda equina nerve roots, particularly the anterior nerve fibres (white arrowheads in A-C).
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case_images: F2
case_images: A whole-spine MRI with contrast showed cauda equina enhancement suggestive of chronic inflammatory demyelinating disorder (Figure 2).
case_images: Brain MRI acquired at 19- months of age after an episode of cardiac arrest showed no evidence of hypoxic ischemic insult on the axial FLAIR image; however, there is evidence of mild brain volume loss with enlarged ventricles and prominent subarachnoid spaces.
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case_images: F3
case_images: A follow-up brain MRI at 22 months showed no further enhancement of the cranial nerves or cauda equina and no evidence of acute hypoxic-ischemic insult secondary to repeated arrest, only mild cerebral atrophy (Figure 3).
case_images: Diagnostic and patient management timeline. RTD, riboflavin transporter deficiency; CSF, cerebrospinal fluid; MRI, magnetic resonance imaging; EMG, electromyogram; NCS, nerve conduction study; WES, whole exome sequencing.
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case_images: F4
case_images: Figure 4 represents the timeline course for this patient.