- 著者
- Hidekazu AOKI Shunji MUGIKURA Reizo SHIRANE Toshiaki HAYASHI Tomomi KIMIWADA Kiyohide SAKAI Keiko AINOYA Hideki OTA Kei TAKASE Yoshihisa SHIMANUKI
- 出版者
- The Japan Neurosurgical Society
- 雑誌
- Neurologia medico-chirurgica (ISSN:04708105)
- 巻号頁・発行日
- pp.2023-0002, (Released:2023-08-30)
- 参考文献数
- 22
Closed spinal dysraphism (CSD) encompasses a heterogeneous group of spinal cord deformities, which can be accompanied by several types of skin stigmata. These skin stigmata may include inconspicuous features, such as sacral dimples and deformed gluteal clefts, but the association between such mild skin stigmata and CSD is uncertain. This study aimed to reevaluate the indication for magnetic resonance imaging (MRI) in patients with skin stigmata while considering the indication for surgery. A retrospective analysis was conducted on magnetic resonance images of 1255 asymptomatic children with skin stigmata between 2003 and 2015. Skin stigmata classification was based on medical chart data. All subtypes of CSDs except for filum terminale lipomas (FTL), FTL thicker than 2 mm or with low conus medullaris, were considered to meet the surgical indication. CSD prevalence was estimated while considering the surgical indications and assessed after excluding all FTL cases. Skin stigmata were classified into seven types, dimple, deformed gluteal cleft, hair, subcutaneous mass, appendage, discoloration, and protruding bone, and included 1056 isolated and 199 complex ones. The prevalence of CSD was 19.5%, 6.8%, and 0.5% among patients with isolated dimples (n = 881) and 13.9%, 5.8%, and 0.7% among those with isolated deformed gluteal clefts (n = 136) for all cases, surgical indications, and patients without FTL, respectively. Dimples and deformed gluteal clefts had a low prevalence of CSD requiring surgical intervention, and cases without FTL were rare. Asymptomatic patients with mild skin stigmata may not require immediate MRI.
- 著者
- Kento Morozumi Keiko Ainoya Jun Takemoto Kiyohide Sakai
- 出版者
- Tohoku University Medical Press
- 雑誌
- The Tohoku Journal of Experimental Medicine (ISSN:00408727)
- 巻号頁・発行日
- vol.245, no.3, pp.187-191, 2018 (Released:2018-07-14)
- 参考文献数
- 11
- 被引用文献数
- 2
Campomelic dysplasia (CD) is a skeletal dysplasia characterized by shortened and bowed long bones, airway instability, the potential for disorders of sexual differentiation (DSD), and Pierre Robin Sequence (PRS) with cleft palate, midface hypoplasia and laryngotrachemomalacia. CD is caused by alterations in the Sex-determining region of the Y chromosome (SRY)-related-box 9 (SOX9), which has important roles in tissue and sexual differentiation. The SOX9 gene and the enhancer regions of SOX9 are located at chromosome 17q24.3. We report a 6-year-old phenotypically female referred to our department because of precocious puberty. The patient was born with Tetralogy of Fallot (TOF) and PRS. Skeletal X-ray examination showed only 11 pairs of ribs and bilateral bowed radiuses. Endocrine evaluations showed that increased levels of serum testosterone, and chromosomal analysis revealed a 46, XY, t(2;17)(p15;q24.2) karyotype. The patient was diagnosed with peripheral precocious puberty caused by over-secretion of testosterone by gonadoblastoma originating from dysgenetic gonads with Y-chromosome-related DSD. Multiple somatic abnormalities and DSD indicated that the patient might have CD. Laparoscopy revealed bilateral dysgenetic gonads, and these were removed in the successive operation to prevent malignant transformation and virilization, caused by dysgenetic gonads with Y chromosomal materials. It is highly suggestive that the chromosomal translocation of 17q 24.2 may cause DSD and multiple somatic abnormalities, including CD, although the identified 17q breakpoint was located outside of known SOX9 enhancer regions. Thus, a hitherto unknown enhancer may be present at 17q24.2. This is the first reported case of CD with a translocation breakpoint at 17q24.2.