Case 278: Mutation in ROBO3 Gene-Horizontal Gaze Palsy and Progressive Scoliosis.
Felipe Alba ScortegagnaFelipe Torres PachecoRenato Hoffmann NunesAline SerpaMichele Patricia MigliavaccaAntonio José da RochaPublished in: Radiology (2020)
HistoryA 13-year-old girl was born to consanguineous parents. She presented with mild intellectual impairment, convergent strabismus, horizontal gaze palsy, and bilateral abducens palsy. Vertical gaze was preserved, and no abnormalities suggesting facial paralysis were noted. In addition, she reported progressive back pain since she was 5 years old. Other symptoms were denied. No medications or related drugs had been administered thus far. The patient underwent brain MRI for further evaluation. Current and previous spine radiographs were also reviewed.
Keyphrases
- multiple sclerosis
- case report
- magnetic resonance imaging
- white matter
- contrast enhanced
- genome wide
- resting state
- low birth weight
- copy number
- gestational age
- gene expression
- preterm infants
- soft tissue
- computed tomography
- magnetic resonance
- dna methylation
- sleep quality
- cerebral ischemia
- genome wide identification
- depressive symptoms
- transcription factor
- functional connectivity
- preterm birth