Severe bone microarchitecture deterioration in a family with hereditary neuropathy: evidence of the key role of the mech
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CASE REPORT
Severe bone microarchitecture deterioration in a family with hereditary neuropathy: evidence of the key role of the mechanostat R. Abdala 1,2
&
L. Levi 1 & V. Longobardi 1,2 & M. B. Zanchetta 1,2
Received: 27 July 2020 / Accepted: 6 October 2020 # International Osteoporosis Foundation and National Osteoporosis Foundation 2020
Abstract Summary In this report, we present three cases of individuals from the same family with a diagnosis of CMT with severe tibia bone microarchitecture deterioration assessed by HR-pQCT. Charcot-Marie-Tooth disease (CMT) or hereditary neuropathy involves both motor and sensory nerves. Falls are often the first manifestation in these patients and represent an important risk factor for fracture. The reduction of mechanical input on bone inhibits bone formation by osteoblasts and accelerates bone resorption by osteoclasts, leading to disuse osteoporosis. We report three cases of individuals from the same family with a diagnosis of CMT with severe tibia bone microarchitecture deterioration assessed by high-resolution peripheral quantitative computed tomography (HR-pQCT). This affectation was exclusive to the tibia; the radius remained undamaged, showing the consequences of the lack of mobility and mechanical stimulation. Physical activity and rehabilitation, in addition to adequate calcium and vitamin D supplementation, may play an essential role in the management of this disease. Keywords Charcot-Marie-Tooth . Disuse osteoporosis . Microarchitecture . Mechanostat
Introduction Charcot-Marie-Tooth disease (CMT), or hereditary motor and sensory neuropathy, is a genetically heterogeneous clinical polyneuropathy characterized by abnormal development of the peripheral nervous system [1–3]. Its pathophysiology includes different types of genetic mutations that affect proteins essential for nerve structure and/or function. According to the types of genetic mutations involved, the literature reports
Electronic supplementary material The online version of this article (https://doi.org/10.1007/s00198-020-05674-9) contains supplementary material, which is available to authorized users. * R. Abdala [email protected] 1
IDIM, Libertad 836, 1st Floor, Zip code 1012 Buenos Aires, Argentina
2
Cátedra de Osteología y Metabolismo Mineral, Universidad del Salvador, Buenos Aires, Argentina
different patterns of inheritance and prevalence (8–41 per 100,000) [2, 4]. CMT patients may have an increased risk of fractures, associated with low bone mass and falls. Falls are often caused by muscle cramps, diminished deep tendon reflexes, impaired mobility, and the use of psychotropic drugs [5]. However, fracture risk is not well determined in these patients, and there are a few case reports in the literature [5, 6]. A retrospective cohort study showed that CMT patients had a 1.5-fold increased risk for fractures, mainly in hands, feet, and ankles [5]. In these patients, “bone disuse” is one of the factors leading to the development of osteoporosis. Physiologically, bones receive permanent me
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