Challenges in surgical orthopaedic treatment in a rare case of pycnodysostosis: Sometimes you win, sometimes you learn (original) (raw)
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Orthopedic Treatment of Pycnodysostosis: A Systematic Review
Cureus
Pycnodysostosis (PYCD) is an autosomal recessive lysosomal storage disorder of the bone which leads to stereotypical abnormalities consisting of, but not limited to, sclerotic and fragile bone, shortened distal phalanges, and obtuse mandibular angle. Current literature describes the otolaryngological manifestations and treatment of this disorder; however, the treatment of orthopedic fractures in PYCD patients is seldom described and remains a controversial topic. We aim to systematically review the current evidence regarding the optimal treatment of PYCD patients with fractures. We performed a literature search using PubMed, MEDLINE, Web of Science, and Google Scholar databases. Eligibility criteria consisted of English-language literature of PYCD patients undergoing treatment for orthopedic surgery fractures. Non-English papers or literature focused on maxillofacial manifestations/treatment were excluded. The database search resulted in the identification of 500 articles. After removing duplicates and enforcing our inclusion criteria, 29 case reports/series (40 patients) were included. The average age was 31.25 (±18.2) years, with 57.5% of patients being female. Overall, 62.5% of patients had consanguineous parents. Additionally, 86.2% reported a history of previous fractures while 47.5% reported a spontaneous or minor trauma fracture, with most fractures occurring in the femur (60.0%) and tibia (40.0%). Radiographic features consisted of densification in the femur 45.0% (18/40), tibia 37.5% (15/40), and spine 25.0% (10/40). Overall, 84.2% of patients were treated with surgical management consisting of internal plate fixation (IPF) (48.3%), intramedullary fixation (20.7%), and Ilizarov external fixation (IEF) (13.8%). Overall, the refracture rate was 25.0% and was lowest in intramedullary fixation (0/6), compared to IPF (3/14) and IEF (3/4). Average time until refracture was 40.6 months (3-132 months). Long-term follow-up is recommended in patients with PYCD due to the propensity for fractures/refractures. While this study provides the groundwork for the treatment of PYCD patients, further research with higherevidence studies should be conducted to establish the optimal orthopedic treatment of this disorder.
Journal of Xiangya Medicine
Background: Pycnodysostosis (PYCD) is a rare genetic disorder causing skeletal dysplasia. It is inherited in an autosomal recessive manner, and it is caused by a gene mutation leading cathepsin K (CTSK) deficiency. PYCD is characterized among many by short-limbed short stature, typical facial appearance and osteosclerosis with increased bone fragility. The altered bone quality typical of this disease cause the bones to be fragile and brittle with the medullary canal present while often narrowed so as a result, these individuals have an increased fracture rate. Methods: A systematic review of the literature indexed in PubMed, MEDLINE, and Cochrane Library databases using as search terms "pycnodysostosis fracture" was performed in January 2022. To be considered for this review at least a section of the population understudy needed to be affected by PYCD, bone fracture and the treatment performed needed to be explicit. Literature focused on maxillofacial manifestations/ surgery were excluded. The methodological quality of the studies was assessed using the modified Coleman methodology score (mCMS). Results: Only 23 studies met the inclusion criteria and were included in the review. The reached population consisted of 36 patients for a total of 57 fractures secondary mainly to low energy trauma (91%). Fractures occurred mainly in long bones, 54% were femur and 26% were tibia. The 60%. Of fractures were treated surgically. Bony union was achieved at an average of 11 months after surgery/trauma. The most frequent complications reported were refracture (19%) and pseudoarthrosis (31%). Six femur "impending fracture" cases have also been reported. Conclusions: Treatments such as intramedullary nailing or internal plate fixation offer continuous support for the delayed bone healing and the high risk of refracture in PYCD which are the most common complications. Prolonged follow-up over time could help these patients with a rare disease to treat and sometimes prevent disease-related events. To date, therefore, there are no standardized guidelines on this matter.
An atypical subtrochanteric femoral fracture from pycnodysostosis: A lesson from nature
Journal of Bone and Mineral Research, 2011
This case describes a man with an unusual cause of an atypical subtrochanteric fracture, pycnodysostosis. This condition results from mutations involving the cathepsin K gene. New antiresorptive treatments for osteoporosis inhibit the cathepsin K enzyme in osteoclasts. Therefore, there should be vigilant monitoring for the development of long-term complications noted to occur in diseases of reduced osteoclast function, including pycnodysostosis, in patients receiving these novel antiresorptive agents.
Kırıkkale Üniversitesi Tıp Fakültesi Dergisi, 2017
Pycnodysostosis, known as osteopetrosis acro-osteolytica, is a rare sclerotic bone disease with an autosomal recessive heritage pattern. Characteristic features of the disease are short stature, delayed closure of cranial sutures, partial or total dysplasia of the phalanges, obtuse mandibular angle, skeletal abnormalities and increased bone density. Type I collagen catabolism and
Reconsiderations regarding time of fracture healing in Pycnodysostosis
Revista Brasileira de …
1 Chefe do Serviço de Residência Médica do Hospital Ortopédico de Goiânia. 2 Consultor do Grupo de Oncologia Ortopédica do Hospital Ortopédico de Goiânia. 3 Chefe do Grupo de Oncologia Ortopédica do Hospital Ortopédico de Goiânia. 4 Fisioterapeuta Especialista ...
A probable new type of osteopenic bone disease
Pediatric Radiology, 2002
In the 1970s over 40,000 Assyrians emigrated to Sweden. Most were refugees who came from mountain villages in the region between Turkey, Syria and Iraq. In these communities, the marriage of cousins and geographical isolation make consanguinity between the inhabitants extremely frequent. Three children, two sisters and one female cousin with a new osteopenic skeletal dysplasia are reported. Case reports Case 1 A girl born 1985 after an uneventful pregnancy and delivery. Birth weight was 4.0 kg and length 48 cm. Her parents are healthy and she has an older brother and a younger sister, both healthy. Her motor development was moderately delayed and she did not walk until the age of 2.5 years. At the age of 8 years, scoliosis was diagnosed. The deformity progressed and at the age of 13 years she has a rigid kyphoscoliosis. She sustained three undisplaced fractures after rather minor traumata after the age of 9 years. She walks slowly with a waddling gait, and her muscle strength is only between half and one-third of the expected isometric force for her age. Until now corrective surgery has not been necessary. Case 2 A girl born 1986. She is the cousin of case 1 and the sister of case 3. She was born with exstrophy of the urinary bladder and complete failure of formation of the symphysis after an uneventful pregnancy and delivery. Birth weight was 3.4 kg and length 43 cm. She did not start walking until the age of 4 years. Her condition deteriorated and she is now mostly confined to a wheelchair. Corrective surgery has been necessary on several occasions to correct skeletal deformities. Case 3 A girl born 1992. She is the cousin of case 1 and sister of case 2. She was born after an uneventful pregnancy and delivery. Birth weight was 3.4 kg and length 48 cm. She walked at the age of 2.5 years. Coxa vara and bowing of the femora and tibiae have made multiple osteotomies necessary.
Limb Lengthening and Reconstruction Surgery Case Atlas, 2014
Neisseria meningitidis are the typical agents of a severe septic shock with fulminate disease especially in childhood. There are a lot of late complications as impaired soft tissue and deformities of the limbs with discrepancies in the growing skeleton. In the present case of a 20-year-old girl, a lower leg length discrepancy (140 mm) and malalignment on the left side due to meningococcal sepsis in childhood were uneventfully corrected by fully implantable systems in two operative steps despite large scars and severely impaired soft tissue. The current case deals with the impaired bone growth and a resulting malalignment and lower limb discrepancy as late complications of a meningococcal sepsis. Cases like this are commonly corrected by external fixation with a high risk of pin tract complications, remaining malalignment, and patient discomfort. In conclusion, fully implantable intramedullary lengthening nails may be an excellent alternative to external fixation, even in difficult cases. 1 Brief Clinical History A 20-year-old girl presented with a 140 mm leg length discrepancy, malalignment, and impaired soft tissue on the left leg. She had acquired meningococcal sepsis at an age of 5 years. 2 Preoperative Clinical Photos and Radiographs See Figs. 1, 2, and 3. 3 Preoperative Problem List (a) Leg length discrepancy (140 mm). (b) Malalignment (mLDFA 99 / MPTA 93) around the knee. Femur varus and tibia valgus are present. (c) Impaired soft tissue with extensive and fragile scars.