Finsterer Josef, Chatterjee Subhankar, Ghosh Ritwik
Neurology, Krankenanstalt Rudolfstiftung, Vienna, AUT.
Department of General Medicine, Rajendra Institute of Medical Sciences, Jharkhand, IND.
Cureus. 2020 Dec 3;12(12):e11888. doi: 10.7759/cureus.11888.
Camptocormia and other orthopedic abnormalities have been only rarely reported as a phenotypic manifestation of a mitochondrial disorder (MID). Here we present an MID patient with multiple orthopedic abnormalities dominating the phenotype.
The patient is a 55-year-old male in whom MID was diagnosed at age 34 upon clinical presentation, muscle biopsy, and biochemical investigations. Phenotypically, he manifested with multisystem disease including the brain (mental retardation, epilepsy, sleep disorder, cerebellar atrophy), eyes (cataract, myopia), ears (hypoacusis), heart (hypertrophic, cardiomyopathy, QT-prolongation, left anterior hemiblock, noncompaction), intestines (hepatopathy, cholecystolithiasis), muscle (myopathy), peripheral nerves (neuropathy), and the bone marrow (anemia). Additionally, there was facial dysmorphism (upslanting palpebral fissures, hypertelorism, protruding bulbs) and multiple orthopedic abnormalities, including camptocormia in the absence of axial myopathy, barrel thorax, gibbus, genu valga, knee contractures, bilateral gonarthrosis, bilateral ankle arthroses, and outwardly rotated feet. These abnormalities were complicated by wedge vortex, vertebral stenosis, and coxarthrosis requiring right hip endoprosthesis. His mother manifested with a largely different phenotype.
An MID can manifest phenotypically with orthopedic abnormalities, which may dominate the phenotype. According to this case, orthopedic abnormalities in a MID can be unrelated to the severity of myopathy and intrafamilial phenotypic variability can be high in a MID.
脊柱前凸及其他骨科异常作为线粒体疾病（MID）的一种表型表现仅被极少报道。在此，我们报告一例以多种骨科异常为主导表型的MID患者。
该患者为一名55岁男性，34岁时因临床表现、肌肉活检及生化检查被诊断为MID。表型上，他表现为多系统疾病，包括脑部（智力发育迟缓、癫痫、睡眠障碍、小脑萎缩）、眼睛（白内障、近视）、耳朵（听力减退）、心脏（肥厚型心肌病、QT间期延长、左前分支阻滞、心肌致密化不全）、肠道（肝病、胆囊结石）、肌肉（肌病）、周围神经（神经病变）及骨髓（贫血）。此外，还有面部畸形（睑裂上斜、眼距增宽、眼球突出）及多种骨科异常，包括无轴性肌病的脊柱前凸、桶状胸、脊柱后凸、膝外翻、膝关节挛缩、双侧膝关节炎、双侧踝关节病及足外旋。这些异常因楔状椎体、椎管狭窄及髋关节病而复杂化，需要进行右髋关节置换术。他的母亲表现出的表型则大不相同。
MID可在表型上表现为骨科异常，且可能主导表型。根据本病例，MID中的骨科异常可能与肌病严重程度无关，且家系内表型变异性可能较高。
