Intracranial MRI Findings in a Patient with FBXO11-Related Disorder

Abstract

FBXO11-related intellectual developmental disorder with dysmorphic facies and behavioral abnormalities is a rare genetic disorder. Brain magnetic resonance imaging (MRI) findings associated with this disorder have been sparsely described in literature. This case report describes and depicts brain MRI of a patient with FBXO11-related disorder. The radiologic findings within this report aim to improve the knowledge of the radiologists and clinicians in the detection of this rare condition.

Keywords

FBXO11 - brain - MRI - radiology

Publikationsverlauf

Eingereicht: 25. Mai 2023

Angenommen: 18. Juli 2023

Artikel online veröffentlicht:
28. August 2023

• References

• 1 Jansen S, van der Werf IM, Innes AM. et al. De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms. Eur J Hum Genet 2019; 27 (05) 738-746
• 2 Gregor A, Sadleir LG, Asadollahi R. et al; University of Washington Center for Mendelian Genomics, DDD Study. De novo variants in the F-box protein FBXO11 in 20 individuals with a variable neurodevelopmental disorder. Am J Hum Genet 2018; 103 (02) 305-316
• 3 Fritzen D, Kuechler A, Grimmel M. et al. De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies. Hum Genet 2018; 137 (05) 401-411
• 4 Lee CG, Seol CA, Ki CS. The first familial case of inherited intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) with a novel FBXO11 variant. Am J Med Genet A 2020; 182 (11) 2788-2792
• 5 Kier EL, Staib LH, Davis LM, Bronen RA. MR imaging of the temporal stem: anatomic dissection tractography of the uncinate fasciculus, inferior occipitofrontal fasciculus, and Meyer's loop of the optic radiation. AJNR Am J Neuroradiol 2004; 25 (05) 677-691
• 6 Yogarajah M, Focke NK, Bonelli S. et al. Defining Meyer's loop-temporal lobe resections, visual field deficits and diffusion tensor tractography. Brain 2009; 132 (Pt 6): 1656-1668
• 7 Werth R. Visual functions without the occipital lobe or after cerebral hemispherectomy in infancy. Eur J Neurosci 2006; 24 (10) 2932-2944
• 8 Amicuzi I, Stortini M, Petrarca M. et al. Visual recognition and visually guided action after early bilateral lesion of occipital cortex: a behavioral study of a 4.6-year-old girl. Neurocase 2006; 12 (05) 263-279
• 9 Guerrini R, Raffaello C, Montanaro D. 22.3.3 Temporal Lobe Epilepsy Due to Hippocampal Sclerosis. In: Tortori-Donati P, Rossi A. ed. Pediatric Neuroradiology Brain, 2005 edition. Berlin: Springer; 2005: 1014-1019