Delayed-onset of slipped capital femoral epiphysis.

BACKGROUND: Slipped capital femoral epiphysis in adults is uncommon. The purpose of this study was to report our own four cases (six hips) of slipped capital femoral epiphysis (SCFE) in adulthood and to review the cases reported in the literature. The authors attempted to investigate the various causative underlying disorders and clinical characteristics, treatment, outcome, and complications. METHODS: We searched for all 22 reported cases of SCFE in adults age 18 years and older via MEDLINE and Google Scholar from 1963 to 2012 without any exception. In doing so, we documented our own four cases, along with seven additional reports that we found in the literature but were not reported by Hu et al. in 2011. RESULTS: All of 22 cases involved causative pathology: panhypopituitary disorders in 11, hypothyroidism in five, Kallmann syndrome in three, postradiation hypoestrogenism in one, hypogonadotropic hypogonadism as sequel of meningitis in one, and Klinefelter syndrome in one. Eight cases (36 %) involved both hips. The most common treatment modality was internal fixation combined with hormonal replacement therapy. Nineteen hips (63 %) healed well without any complications after fixation of the slipped epiphysis. Avascular necrosis of the femoral head developed in one hip after in situ pin fixation. CONCLUSION: Awareness of the variety of conditions under which SCFE can occur is an important factor in early diagnosis, especially in slippage at atypical ages. In the adults with SCFE, it is very important to look for bilateral involvement as this occurs in 36 % of cases.

MRI of chondromyxoid fibroma.

BACKGROUND: Chondromyxoid fibroma is a rare benign primary bone tumor of cartilage. Despite a characteristic radiographic appearance, chondromyxoid fibroma with atypical radiographic findings may mimic more common tumors. PURPOSE: To describe the MR findings of chondromyxoid fibroma. MATERIAL AND METHODS: MR images of 19 histopathologically confirmed chondromyxoid fibromas were retrospectively analyzed for signal intensity, periosteal reaction, adjacent abnormal bone marrow and soft tissue signal, and patterns of contrast enhancement. RESULTS: All cases of chondromyxoid fibroma showed hypointense to intermediate signal intensity and internal hyperintense foci were observed in seven (37%) cases on T1-weighted images. On T2-weighted images, all lesions were hyperintense: peripheral intermediate signal band with central hyperintense signal in 11 (58%) of 19 lesions, whereas diffusely hyperintense with heterogeneous pattern in eight (42%). Periosteal reaction was observed in 11 (58%) of 19 cases. Adjacent abnormal bone marrow or soft tissue signal was observed in 12 (63%) or 14 (74%) of 19 cases, respectively. On contrast-enhanced T1-weighted images, peripheral nodular enhancement was observed in 69% (11/16) and diffuse contrast enhancement was observed in 31% (5/16) with homogeneous (n = 3) or heterogeneous (n = 2) patterns. Among the cases with peripheral nodular enhancement, the peripheral nodular enhancing portion generally corresponded to the peripheral intermediate signal band on T2-weighted images, although the peripheral enhancement was not as wide as a band of intermediate signal intensity. On the other hand, the central non-enhancing portion generally corresponded to the central hyperintense signal intensity on T2-weighted images. CONCLUSION: The helpful features of chondromyxoid fibroma are the peripheral intermediate signal band and central hyperintense signal on T2-weighted images, generally corresponding to the peripheral nodular enhancement and central non-enhancing portion on contrast-enhanced T1-weighted images, respectively.

Operative treatment of developmental hip dysplasia in children aged over 8 years.

Nine patients aged over 8 years with developmental dislocation of the hip were treated by an open reduction, femoral shortening and varus derotation osteotomy with or without a Chiari osteotomy. The mean age of the patients was 11.1 years (range 8-17 years), and the mean follow-up period was 7.1 years (range 1-13 years). The left hip was involved in four cases: the right in three and two cases were bilateral. One hip redislocated. The remaining patients recovered nearly full movement of the affected hip. Five out of eight patients had a normal gait without limping or pain. Two others limped secondary to a leg-length discrepancy, which was corrected with leg equalization. The remaining patient had an improvement of her preoperative limp and was pain-free. These results indicate that it is possible to obtain good hip function after open reduction of a developmentally dislocated hip, even after the age of 8 years.

X-linked spondyloepiphyseal dysplasia tarda: Identification of a TRAPPC2 mutation in a Korean pedigree.

Spondyloepiphyseal dysplasia (SED) comprises a heterogeneous group of skeletal dysplasias that primarily affect the epiphyses and vertebral bodies. Patients affected by SED usually exhibit short stature and experience early development of degenerative osteoarthritis. SED is subdivided into congenita and tarda forms according to the age at onset and clinical severity, and further subdivided into genetically different forms according to the mode of inheritance and the gene involved. We report a 14-yr-old Korean male who presented with a disproportionately short stature and a short trunk. A pedigree analysis of 3 generations with 6 affected persons revealed an X-linked recessive mode of inheritance. Mutation analysis of the TRAPPC2 (previously called SEDL) gene, the only gene associated with X-linked spondyloepiphyseal dysplasia tarda (X-linked SEDT; MIM 313400), was performed, and a splice-donor site mutation in intron 3 of the TRAPPC2 gene (c.93+5G>A) was identified in the proband and in his unaffected mother (a heterozygote). This mutation is one of the 2 most frequent mutations reported in the medical literature, and is known to result in exon 3 skipping. This is the first report of a genetically confirmed X-linked SEDT case in Korea and highlights the importance of recognizing the mode of inheritance in the diagnosis of X-linked SEDT.

Extraaxial neurofibromas versus neurilemmomas: discrimination with MRI.

OBJECTIVE: The purpose of our study was to evaluate whether MRI can discriminate between extraaxial neurofibromas and neurilemmomas. MATERIALS AND METHODS: MR images of 52 patients with a pathologically proven extraaxial neurofibroma or neurilemmoma were retrospectively reviewed by observers who were unaware of the surgical results, regarding the presence or absence of individual imaging criteria. MRI findings in 12 patients with a localized neurofibroma and 40 patients with a neurilemmoma were compared using the chi-square test or Fisher's exact test. RESULTS: MRI findings suggestive of neurofibroma (p < 0.05) were a target sign on T2-weighted images (58% in neurofibromas vs 15% in neurilemmomas), central enhancement (75% vs 8%), and a combination of both findings (63% vs 3%). MRI findings suggestive of a neurilemmoma (p < 0.05) were a fascicular appearance on T2-weighted images (25% vs 63%), a thin hyperintense rim on T2-weighted images (8% vs 58%), a combination of both findings (8% vs 48%), and diffuse enhancement (13% vs 67%). No significant difference was seen between neurofibromas and neurilemmomas for a centrally entering and exiting nerve (42% in neurofibromas vs 23% in neurilemmomas), a peripherally entering and exiting nerve (58% vs 77%), a cystic area (38% vs 64%), a low-signal margin (100% vs 100%), peripheral enhancement (13% vs 26%), or a target sign on contrast-enhanced images (11% vs 31%). CONCLUSION: MRI shows features helpful for differentiating extraaxial neurofibromas from neurilemmomas; however, no single finding or combination of findings allows definitive differentiation.