Introduction
Hereditary spastic paraplegia(HSP) is inherited neurodegenerative and neurodevelopmental disorders resulting from primary retrograde dysfunction of the long descending fibers of the corticospinal tract. Since HSP is a rare disease, some patients were initially diagnosed as other diseases and later diagnosed with HSP after genetic testing. The aim of this report is to present a series of case which HSP was initially misdiagnosed.
Case Series
From 2008 to 2020, hospitalized and outpatient who were treated with HSP diagnosis were examined. All patients were Korean, including 16 men, 13 women. Total of 29 patients were identified. Total 9 out of 29 patients were misdiagnosed as other diseases and later diagnosis was changed to HSP. Among these patients, 8 of the 9 patients were suspected of cerebral palsy, and 1 patient was evaluated by a neurologist under ALS. In the case of these patients, a family history was discovered during the treatment under the above diagnosis, and a genetic test was subsequently performed to diagnose HSP. Total 11 out of 29 patients were initially diagnosed as HSP, and 8 patients’ diagnosis were uncertain because clinically, HSP was suspected, but genetic tests were not conducted or genes related to HSP were not found. 1 out of 29 patients was diagnosed with Parkinson disease after further evaluation.
Among HSP patients whose diagnosis were changed, there were cases that genes were not found when the first genetic test was performed. However, due to the development of genetic testing (NGS), many patients were diagnosed as HSP after a period of time. When the gene analysis of patients was performed through direct sequencing and NGS, gene abnormality appeared in SPG4(3 patients), ATL1(2 patiets), SPG54, SPG11, SPG15, PLP1 (1 patient respectively).
Gait disturbance due to spasticity was the chief complaint of patients with HSP patients whose first diagnosis was incorrectly diagnosed. Gait disturbance pattern was similar to the gait pattern of Cerebral palsy followed by Crouch gait, equinus gait, toe out gait, and scissoring gait pattern. Other chief complaints included seizure, heel cord tightness, sever lower back pain, motor weakness and delayed development. Seven out of nine patients underwent orthopedic surgery. Types of surgery include GCM lengthening, Both hip adductor op, Achiles tendon lengthening, adductor tenotomy, and hamstring relase to correct gait disturbance. Of the 9 patients who were initially misdiagnosed, 7 had a family history of gait disturbance, 1 was unidentifiable, and 1 had no family history.
Conclusion
We analyzed 29 patients treated with HSP from 2008 to 2020 and confirmed that 9 of them were misdiagnosed initially. When examining patients with gait disturbance and lower extremity spasticity, the family history should be checked to suspect HSP, and when strongly suspected, genetic testing can be conducted to confirm it. |
