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종결 Case No. 599 2021-08-01~2021-08-31
출제자 : 황인평 Hit : 604
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Period 2021-08-01~2021-08-31
Diagnosis Autosomal recessive hereditary spastic paraplegia with a thin corpus callosum
Gender
  • M
  •  
  • F
Age 20
Clinical information M/20
C.C.: Gait disturbance
진단은?
Discussion Autosomal recessive hereditary spastic paraplegia with a thin corpus callosum
(This patient was diagnosed with spastic paraplegia 11 (SPG11) by gene study.)

Clinically presents as a progressive spastic paraplegia, usually beginning during infancy or puberty, and is often associated with cognitive impairment, occasionally antedating the onset of paraparesis.
“The ears of the lynx” MR imaging sign suggests the presence of a genetic mutation, likely characteristic of SPG11 or SPG15
This sign corresponds to long T1 and T2 values in the forceps minor of the corpus callosum.
Reference: AJNR Am J Neuroradiol. 2019 Jan; 40(1): 199–203.
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  • 이진영 동국대학교 일산병원
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