Camptocormia and Other Orthopedic Compromise Dominating Mitochondrial Disorder: A Case Report

Objectives: 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.

Case Report: 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.

Conclusions: 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.