Cleidocranial dysplasia (CCD) is a rare (1:1,000,000) congenital condition secondary to spontaneous mutation (40%) or autosomal dominant inheritance (60%) affecting skeletal and dental systems. Hypomineralization of the hypoplastic clavicles and/or cranium is the major feature observed by prenatal ultrasound. Radiologically clavicles are hypoplastic or absent in chest X-ray. Delayed closure of the fontanelle and the skull sutures in pediatric and adolescent population and increased mobility of shoulders in all age groups (exhibited by the ability to bring shoulders close to each other) are prominent clinical diagnostic features of CCD. The diagnosis of CCD is often missed or significantly delayed. The management of CCD involves a multidisciplinary approach and its early diagnosis is essential to select an optimum plan and therapeutic benefit. We present here a case of CCD in a 17-month-old girl referred to us for investigation of below average weight and height gain; we stress on the usefulness of early diagnosis in the management of CCD and discuss current management concepts.
Objective:Thickened fatty filum terminale (FFT) can cause tethered cord syndrome (TCS) and can be easily diagnosed on magnetic resonance (MR) imaging. We aimed to assess a) the incidence, distribution and clinical significance of the incidentally detected FFT in Kuwaiti population and b) the relationship between degenerative disk disease (DDD) and thickness of the FFT.Materials and Methods:A retrospective study was planned at Jaber Al Ahmad Armed Forces Hospital, Kuwait involving 1111 patients. A 1.5T GE machine was used for MR imaging to acquire multiplanar MR sequences. MR images of lumbar spine in 1111 subjects were reviewed and location, size, tightness of FFT, the DDD and clinical details were evaluated.Results:FFT was observed in 43 out of 1111 (3.9%) subjects based on MRI, out of which 11 were females and 32 were males. The mean distance between the tip of conus medullaris and the FFT was 41 mm. The mean diameter of the FFT was 1.74 mm. 40 of 43 patients had DDD of varying severity on MR images and no significant or appreciable slackness of FFT was observed in these cases. There were no clinical symptoms related to FFT associated with degenerated disks.Conclusion:FFT is frequently observed in Kuwaiti male population. No significant slackness of FFT was observed in cases with varying severity of DDD. There were no clinical symptoms related to FFT with or without degenerated disks.
We present computed tomography (CT) and magnetic resonance imaging (MRI) features of a very rare case of a primary epidermoid tumor of the jugular foramen (JF). A 45-year-old male patient presented with gradually progressive vertigo and tinnitus. CT and MRI scans revealed a 3.5 cm right-sided JF tumor with characteristic bright signal (restricted diffusion) on diffusion-weighted MRI (DWI). DWI may be useful in accurately differentiating the lesion from other cystic neoplasms of the JF. We describe the imaging features of intracranial epidermoid and JF tumors and discuss its differential diagnosis.
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