Hereditary spastic paraplegia: An "ears of the lynx" magnetic resonance imaging sign in a patient with recessive genetic type 11.
Emiliano Ruiz RomagnoliManuel Sliman Perez AklyLuis A MiqueliniJorge A FunesCristina H BesadaPublished in: The neuroradiology journal (2020)
Hereditary spastic paraplegias are an uncommon group of monogenic diseases that include 79 types of genetic disorders. The most frequent cause of recessive hereditary spastic paraplegia is a mutation in the spastic paraplegia gene type 11 followed by type 15. This group is usually associated with non-specific clinical features like cognitive decline and may precede the progressive weakness and spasticity of lower limbs. The magnetic resonance imaging hallmark of hereditary spastic paraplegia is thinning of the spinal cord. However, brain magnetic resonance imaging may provide relevant clues for specific hereditary spastic paraplegia subtypes, and thinning of the corpus callosum has been described as the most frequent abnormality in almost one-third of recessive hereditary spastic paraplegias. Moreover, a characteristic abnormality affecting the forceps minor of the corpus callosum has been recently reported as the "ears of the lynx" sign and is highly suggestive of type 11 and 15 hereditary spastic paraplegias. We report a patient who was diagnosed with hereditary spastic paraplegia type 11 by exome genetic testing, presenting the ears of the lynx sign in the first magnetic resonance imaging assessment.
Keyphrases
- cerebral palsy
- botulinum toxin
- magnetic resonance imaging
- upper limb
- cognitive decline
- spinal cord
- computed tomography
- case report
- copy number
- genome wide
- spinal cord injury
- intellectual disability
- contrast enhanced
- multiple sclerosis
- neuropathic pain
- white matter
- functional connectivity
- resting state
- gene expression
- blood brain barrier
- diffusion weighted imaging
- duchenne muscular dystrophy