Neuroradiology Department, Hospital Dona Estefânia e Hospital São José, Centro Hospitalar Universitário de Lisboa Central – CHULC
- XV Congresso Nacional da SPNR, 28-29 Junho 2019, Coimbra
- Neuroradiology (2020) 62:109–127. https://doi.org/10.1007/s00234-019-02317-7
Introduction/Objectives: Congenital Gaze Palsy (CGP) may be defined as an eye movement restriction, affecting one or more extraocular muscles, unilaterally, or bilaterally. They are included in the Congenital Cranial Dysinnervation Disorders (CCDD). CCDD is a group of congenital and non-progressive anomalies, caused by abnormal development of cranial nerve nuclei or their axonal connections, resulting in absent or aberrant innervation of one or more, motor or sensitive cranial territories. Congenital Gaze Palsies were previously thought to be caused by extraocular muscular fibrosis, but recent advancements in neuroradiology and genetics have shown that muscle changes are secondary to deficient, absent, or misguided cranial nerves.
The goal of this presentation is to present the imaging features of congenital gaze palsies, provide differential diagnosis clues, and highlight pathognomonic characteristics.
Material and Methods: Recent scientific literature related to the genetics and imaging of CCDD was reviewed. We retrospectively reviewed patients referred to imaging with suspected congenital gaze palsy. Patients with recognizable imaging features of CCDD were selected.
Results: Illustrative imaging features of the most representative CCCD presenting with congenital gaze palsy were shown, including Duane Retraction Syndrome, Moebius Syndrome, Horizontal Gaze Palsy and Progressive Scoliosis, and Pontine Tegmental Cap Dysplasia. While some of these entities only present with cranial nerve abnormalities, others have additional central nervous system or systemic malformations, that can aid diagnosis or even be pathognomonic. Recent genetic developments related to this group of diseases are reviewed.
Conclusions: Congenital gaze palsy can be a manifestation of Congenital Cranial Dysinnervation Disorders. Imaging studies are crucial for the differential diagnosis.
Palavras Chave: Congenital Gaze Palsy; Congenital Cranial Dysinnervation Disorders; Imaging; MRI