Idiopathic juvenile osteoporosis: A case report and review of the literature

İmerci, Ahmet; Canbek, Umut; Haghari, Sema; Sürer, Levent; Koçak, Müge

doi:10.1016/j.ijscr.2015.02.043

Cited by 13 publications

(8 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Idiopathic juvenile osteoporosis is characterized by pre-pubertal onset with recurrent long-bone fractures, back pain, and gait disturbances. It is usually self-limiting with spontaneous remission at the onset and progression of puberty [12]. The patient in this case report did not have a history of recurrent long-bone fractures in childhood.…”

Section: Discussionmentioning

confidence: 78%

A Case of Short Stature and Severe Osteoporosis in a Young Man with Oculocutaneous Albinism: Syndrome or Coincidence?

Oyibo

2020

Cureus

View full text Add to dashboard Cite

Oculocutaneous albinism (OCA) is a rare autosomal recessive congenital condition characterized by reduced or absent production of the pigment melanin by melanocytes. The affected individuals have increased susceptibility to sunburn and skin cancers. Osteoporosis is a disease entity characterized by the progressive loss of bone mineral density and the deterioration of bone micro-architecture, leading to an increased risk of developing low-trauma fractures. There are many causes of osteoporosis, ranging from primary to secondary causes. Short stature is defined as height less than two standard deviations below the age-specific and gender-specific mean (less than the 2.5th percentile). There have been rare case reports of individuals with OCA having associated osteoporosis or low bone mineral density and short stature. These cases have also been associated with severe skeletal, neurological, and psychomotor disabilities. We present a case of a young man with OCA and short stature who sustained a low-trauma intertrochanteric fracture to his femur bone and was subsequently diagnosed to have clinically significant osteoporosis. This case report while attempting to review the literature also emphasizes the importance of further research into the prevalence of these clinical features accompanying certain types of OCA and whether they are part of a single syndrome or just coincidental findings.

show abstract

Section: Discussionmentioning

confidence: 78%

A Case of Short Stature and Severe Osteoporosis in a Young Man with Oculocutaneous Albinism: Syndrome or Coincidence?

Oyibo

2020

Cureus

View full text Add to dashboard Cite

show abstract

“…IJO can produce signifi cant patient morbidity at a stage of rapid skeletal growth and high level of activities. Th ere is a paucity of information within the current literature limited to approximately 100 case reports (2,3). Th is rare masquerading condition presents a diagnostic conundrum for physicians and surgeons.…”

Section: Discussionmentioning

confidence: 99%

“…Idiopathic Juvenile Osteoporosis (IJO) is a rare sporadic condition characterised by low bone mass that affects the pre-pubertal paediatric population, usually between 8 and 14 years (1,2). The manifestations of this disease include bone pain, dental abnormalities, short stature and skeletal fractures with subsequent deformities (3,4). Although osteoporosis resolves at skeletal maturity, the deformities that develop during the acute phase of the condition affecting the spine and appendicular skeleton can have profound effects and produce long-term disability if not recognised and treated early.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Idiopathic Juvenile Osteoporosis Presenting as Loss of Height

Bucknall

Bhatti

Murray

2019

CEJP

View full text Add to dashboard Cite

Objective − To report a rare case of Idiopathic Juvenile Osteoporosis (IJO) presenting as kyphosis and loss of height. Case presentation − A 9-year-old girl presented with a 6-month history of progressive loss of height, increasing roundness of the shoulders and atraumatic mild thoracolumbar discomfort. A diagnosis of IJO was subsequently made. In the course of treatment, bisphosphonates were commenced and multiple procedures were required to address lower limb fractures and angular deformities. At 10 years follow-up at skeletal maturity and after pamidronate therapy, spontaneous resolution of spinal deformity was observed resulting in a normal range of daily and sporting activities. Conclusion − IJO is a rare condition that should be considered in paediatric patients presenting with unexplained progressive loss of height and an increasing kyphosis where other causes have been excluded.

show abstract

“…For example, rather than using anti-resorptive agents, pharmaceuticals that stimulate mineralization (parathyroid hormone, vitamin D, sclerostin antibodies, or calcium supplementation) might accelerate the mineralization process, preventing the accumulation of a matrix in which the collagen maturity is elevated. There are case reports where vitamin D and calcitonin [40] or calcium, vitamin D, bisphosphonates and activity restriction [41], normalized BMD and eliminated pain in children with IJO treated for 2 years or until puberty. Since children with IJO recover without treatment after puberty, one cannot tell whether the correction in these case reports would have occurred overtime without any therapy.…”

Section: Discussionmentioning

confidence: 99%

Evidence of altered matrix composition in iliac crest biopsies from patients with idiopathic juvenile osteoporosis

Garcia

Chiodo

et al. 2015

Connective Tissue Research

View full text Add to dashboard Cite

Purpose Idiopathic juvenile osteoporosis (IJO) is a rare condition in children, characterized by bone pain, long bone and vertebral fractures. Previously, IJO bone was solely characterized by histomorphometry and quantitative computed tomography. The goal of this study is to describe IJO bone composition. Materials and Methods Fourier transform infrared imaging (FTIRI), a vibrational spectroscopic technique providing spatially resolved images of chemical composition, was used to determine whether iliac crest biopsies from children with IJO differed in composition from and age- and sex-matched controls, and, as a secondary analysis, whether IJO-bone showed the same disease dependent change in composition as do iliac crest bone biopsies from women with postmenopausal osteoporosis (PMO). Wilcoxon rank-tests and linear regressions were used to analyze FTIRI variables (mineral-to-matrix ratio, carbonate-to-phosphate ratio, crystallinity, acid-phosphate substitution, collagen maturity) and their individual pixel distributions (Heterogeneity). Results Mineral-to-matrix ratio was comparable in IJO and age-matched controls. Contrastingly, collagen maturity (also known as collagen cross-link ratio) was higher in cortical and cancellous IJO bone compared to juvenile controls. Acid-phosphate substitution was greater in IJO cancellous bone than in age-matched controls, suggesting IJO bone mineral is formed more recently, reflecting a slower mineralization process. This agrees with findings of increased heterogeneity for mineral-to-matrix and collagen maturity ratios in IJO cancellous bone. There were negative correlations between cancellous collagen maturity and previously reported histomorphometric bone formation markers. There were no correlations with indices of remodeling. Conclusions IJO bone, similar to PMO bone, had elevated collagen maturity relative to its age-matched controls. This emphasizes the importance of the collagen matrix for bone health. IJO bone differed from PMO bone as IJO bone contains more recently formed mineral than age-matched controls but has a more mature matrix, whereas in PMO-bone both mineral and matrix have older characteristics.

show abstract

Idiopathic juvenile osteoporosis: A case report and review of the literature

Abstract: HighlightsAbsence of family history of pediatric or adolescent osteoporosis.Presence of osseous osteoporosis on radiography.Absence of collagen defect on skin biopsy.No other identifiable causes of bone loss.

Cited by 13 publications

References 12 publications

A Case of Short Stature and Severe Osteoporosis in a Young Man with Oculocutaneous Albinism: Syndrome or Coincidence?

A Case of Short Stature and Severe Osteoporosis in a Young Man with Oculocutaneous Albinism: Syndrome or Coincidence?

Idiopathic Juvenile Osteoporosis Presenting as Loss of Height

Evidence of altered matrix composition in iliac crest biopsies from patients with idiopathic juvenile osteoporosis

Contact Info

Product

Resources

About