Giorelli Maurizio
Operative Unit of Neurology, "Dimiccoli" General Hospital, Barletta, Italy.
Intractable Rare Dis Res. 2022 Feb;11(1):40-42. doi: 10.5582/irdr.2021.01148.
Autonomic dysregulation of cardiovascular functions marks early Huntingtons disease (HD). Blood-brain barrier (BBB) is dysfunctional in HD. A 37-year-old female carrying 41 CAG triplets in the huntingtin gene acutely presented with a multifaceted syndrome attributable to posterior reversible encephalopathy syndrome (PRES). Syndrome was associated with arterial hypertension (AHT). The syndrome fully recovered both by imaging and clinical signs after normalization of arterial pressure during hospitalization. Immediately after hospital discharge, the patient developed a complex psychiatric syndrome and choreic movements that represented conversion to the symptomatic phase of HD. A one-year later follow up clearly showed the patient had developed the symptomatic stage of HD by presenting both psychiatric symptoms and choreic movements. Onset of AHT may represent an early premonitory signal of HD becoming manifested. Induction of PRES might be associated with BBB impairment in HD.
心血管功能的自主神经调节异常是早期亨廷顿舞蹈病（HD）的特征。血脑屏障（BBB）在HD中功能失调。一名37岁女性，亨廷顿基因中携带41个CAG三联体，急性出现了一种多方面的综合征，归因于后部可逆性脑病综合征（PRES）。该综合征与动脉高血压（AHT）相关。住院期间动脉压恢复正常后，通过影像学和临床体征显示该综合征完全恢复。出院后不久，患者出现了复杂的精神综合征和舞蹈样动作，这代表着转变为HD的症状期。一年后的随访清楚地表明，患者通过出现精神症状和舞蹈样动作已发展到HD的症状阶段。AHT的发作可能代表HD显现的早期先兆信号。PRES的诱发可能与HD中的BBB损伤有关。
