A significant improvement in lower limb pain after treatment with alendronate in two cases of Camurati–Engelmann disease

Iba, Kousuke; Takada, Junichi; Kamasaki, Hotaka; Oda, Takashi; Hatakeyama, Naoko; Wada, Takuro; Yamashita, Toshihiko

doi:10.1007/s00774-007-0783-7

Cited by 25 publications

(12 citation statements)

References 13 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…14,21,[39][40][41][42][43][44][45][46][47][48][49]176 Radiographic and histological reversal of disease has been described in select cases, 40,42,46,48 whereas others report no such improvements. 49 Bisphosphonate therapy has been met with less success; few reports document improvement, 50 whereas most report no change 51,52 or detrimental effects. 46 Medical therapy, including corticosteroids and bisphosphonates, does not appear to benefit cranial base disease progression or symptoms.…”

Section: Skull Base Manifestations and Managementmentioning

confidence: 99%

Skull Base Manifestations of Camurati-Engelmann Disease

Carlson¹,

Beatty²,

Neff³

et al. 2010

Arch Otolaryngol Head Neck Surg

View full text Add to dashboard Cite

Physicians should include CED in the differential diagnosis for patients with radiographic evidence of skull base thickening and synchronous cranial neuropathies or symptoms of elevated intracranial pressure. In mild forms of the disease, the clinical course of patients should be followed with serial examination, audiometric testing, and radiography. In select patients with progressive cranial base symptoms, aggressive wide decompression of involved neurovascular structures may provide benefit.

show abstract

Section: Skull Base Manifestations and Managementmentioning

confidence: 99%

Skull Base Manifestations of Camurati-Engelmann Disease

Carlson¹,

Beatty²,

Neff³

et al. 2010

Arch Otolaryngol Head Neck Surg

View full text Add to dashboard Cite

show abstract

“…(17) Dihydrotachysterol treatment has also been beneficial. (24) Various bisphosphonates may help,(41) but more likely will not,(14,26) and they are known to have exacerbated CED bone pain. (27,42)…”

Section: Introductionmentioning

confidence: 99%

Camurati-engelmann disease: Unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand

Whyte

Totty

Novack

et al. 2010

Journal of Bone and Mineral Research

View full text Add to dashboard Cite

We report a 32-year-old man and his 59-year-old mother with a unique and extensive variant of Camurati-Engelmann disease (CED) featuring histopathological changes of osteomalacia and alterations within TGFβ1 and TNFSF11 encoding TGFβ1 and RANKL, respectively. He suffered leg pain and weakness since childhood and reportedly grew until his late 20s, reaching 7 feet in height. He had deafness, perforated nasal septum, torus palatinus, disproportionately long limbs with knock-knees, low muscle mass, and pseudoclubbing. Radiographs revealed generalized skeletal abnormalities, including wide bones and cortical and trabecular bone thickening in keeping with CED, except that long bone ends were also affected. Lumbar spine and hip BMD Z-scores were + 7.7 and + 4.4, respectively. Biochemical markers of bone turnover were elevated. Hypocalciuria accompanied low serum 25-hydroxyvitamin D (25[OH]D) levels. Pituitary hypogonadism and low serum insulin-like growth factor (IGF)-1 were present. Karyotype was normal. Despite vitamin D repletion, iliac crest histology revealed severe osteomalacia. Exon 1 of TNFRSF11A (RANK), exons 2, 3, and 4 of LRP5, and all coding exons and adjacent mRNA splice junctions of TNFRSF11B (OPG), SQSTM1 (sequestosome 1), and TNSALP (tissue nonspecific alkaline phosphatase) were intact. His asymptomatic and less dysmorphic 5′11″ mother, also with low serum 25(OH)D, had milder clinical, radiological, biochemical, and histopathological findings. Both individuals were heterozygous for a novel 12-bp duplication (c.27_38dup, p.L10_L13dup) in exon 1 of TGFβ1, predicting four additional leucine residues in the latency-associated-peptide segment of TGFβ1, consistent with CED. The son was also homozygous for a single base transversion in TNFSF11, predicting a nonconservative amino acid change (c.107C > G, p.Pro36Arg) in the intracellular domain of RANKL that was heterozygous in his nonconsanguineous parents. This TNFSF11 variant was not found in the SNP Database, nor in published TNFSF11 association studies, but it occurred in four of the 134 TNFSF11 alleles (3.0%) we tested randomly among individuals without CED. Perhaps the unique phenotype of this CED family is conditioned by altered RANKL activity. © 2011 American Society for Bone and Mineral Research.

show abstract

“…A reduction in crosslinked N-telopeptides of type I collagen was also observed during alendronate treatment [Iba et al, 2008]. Moreover, it has been demonstrated that the changes of bone marker levels were correlated with bone scintigraphic indices of disease activity [Hernández et al, 1997].…”

mentioning

confidence: 84%

“…Lined light-gray area: normal range for male proband (reference for prepubertal children, own laboratory). Rubin et al, 1997;Chérié-Lignière et al, 1999] or alendronate [Iba et al, 2008]. In one child with CED, bone pain improved after the second cycle of intravenous pamidronate [Bondestam et al, 2007].…”

mentioning

confidence: 99%

Significant Improvement of Clinical Symptoms, Bone Lesions, and Bone Turnover after Long-Term Zoledronic Acid Treatment in Patients with a Severe Form of Camurati-Engelmann Disease

et al. 2017

View full text Add to dashboard Cite

Camurati-Engelmann disease (CED) is an ultrarare autosomal dominant bone dysplasia. Cortical thickening of the diaphyses of the long bones with narrowing of the medullary cavity are associated with bone pain, waddling gait, muscular weakness, easy fatigability, and a marfanoid body habitus. There is no specific treatment for CED. Nonsteroidal anti-inflammatory drugs or glucocorticoids are ineffective in improving bone lesions. A family with a mild to severe form of CED is described. Two patients received long-term bisphosphonate treatment: the 19-year-old female proband was treated with zoledronic acid for 2.2 years; the 4-year-old male proband was treated with neridronic acid for 16 months and with zoledronic acid for an additional 18 months. In both probands, zoledronic acid treatment significantly improved the clinical symptoms, bone lesions, ambulation, and body habitus. Before treatment, both probands showed a marked increase in serum levels of osteocalcin, procollagen type I N-terminal propeptide, and cross-linked carboxyterminal telopeptide of type I collagen, reflecting an increased bone turnover. Bone marker levels returned to their normal values during treatment. Zoledronic acid treatment may be an important therapeutic option in patients with severe CED. Biochemical markers of bone turnover could be considered as surrogate indexes of CED activity.

show abstract

A significant improvement in lower limb pain after treatment with alendronate in two cases of Camurati–Engelmann disease

Cited by 25 publications

References 13 publications

Skull Base Manifestations of Camurati-Engelmann Disease

Skull Base Manifestations of Camurati-Engelmann Disease

Camurati-engelmann disease: Unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand

Significant Improvement of Clinical Symptoms, Bone Lesions, and Bone Turnover after Long-Term Zoledronic Acid Treatment in Patients with a Severe Form of Camurati-Engelmann Disease

Contact Info

Product

Resources

About