1/11. Identification and characterization of an Xq26-q27 duplication in a family with spina bifida and panhypopituitarism suggests the involvement of two distinct genes.We investigated a family with a duplication, dup(X)q26-q27, that was present in two brothers, their mother, and their maternal grandmother. The brothers carrying the duplication displayed spina bifida and panhypopituitarism, whereas a third healthy brother inherited the normal x chromosome. Preferential inactivation of the x chromosome containing the duplication was evident in healthy carrier females. We determined the boundaries of the Xq26-q27 duplication. Via interphase FISH analysis we narrowed down each of the two breakpoint regions to approximately 300-kb intervals. The proximal breakpoint is located in Xq26.1 between DXS1114 and HPRT and is contained in YAC yWXD599, while the distal breakpoint is located in Xq27.3 between DXS369 and DXS1200 and contained in YAC yWXD758. The duplication comprises about 13 Mb. Evidence from the literature points to a predisposing gene for spina bifida in Xq27. We hypothesize that the spina bifida in the two brothers may be due to interruption of a critical gene in the Xq27 breakpoint region. Several candidate genes were mapped to the Xq27 critical region but none was shown to be disrupted by the duplication event. Recently, M. Lagerstrom-Fermer et al. (1997, Am. J. Hum. Genet. 60, 910-916) reported on a family with X-linked recessive panhypopituitarism associated with a duplication in Xq26; however, no details were reported on the extent of the duplication. Our study corroborates their hypothesis that X-linked recessive panhypopituitarism is likely to be caused by a gene encoding a dosage-sensitive protein involved in pituitary development. We place the putative gene between DXS1114 and DXS1200, corresponding to the interval defined by the duplication in the present family.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
2/11. A child with spina bifida, cerebral palsy and juvenile rheumatoid arthritis: rehabilitation challenge.PURPOSE: A child with spina bifida, cerebral palsy and juvenile rheumatoid arthritis is presented, and strategies to approach a patient with multiple paediatric onset disabling conditions with possible overlaps are discussed. CONCLUSION: The value of multidisciplinary team approach including physiatrist, physical therapist, occupational therapist, rehabilitation nurse, prosthetist-orthotist, psychologist, speech-language pathologist, paediatric rheumatologist, social worker, kinesiotherapist, dietitian, recreation therapist, dentist and other disciplines as required is emphasized.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
3/11. Pseudo-tumours of the urinary tract in patients with spinal cord injury/spina bifida.OBJECTIVE: To raise awareness of pseudo-tumours of urinary tract, as pseudo-tumours represent benign mass lesions simulating malignant neoplasms. Accurate diagnosis helps to avoid unnecessary surgery in spinal cord injury patients. SETTING: Regional spinal injuries Centre, Southport, UK case reports: Pseudo-tumour of kidney: A 58-year-old man with tetraplegia developed a right perirenal haematoma while taking warfarin; ultrasound and CT scanning showed no evidence of tumour in the right kidney. The haematoma was drained percutaneously. After 8 months, during investigation of a urine infection, ultrasound and CT scan revealed a space-occupying lesion in the mid-pole of the right kidney. CT-guided biopsy showed features suggestive of an organising haematoma; the lesion decreased in size over the next 13 months, thus supporting the diagnosis. Pseudo-tumour of urinary bladder: A frail, 34-year-old woman, who had spina bifida, marked spinal curvature and pelvic tilt, had been managing her neuropathic bladder with pads. She had recurrent vesical calculi and renal calculi. CT scan was performed, as CT would be the better means of evaluating the urinary tract in this patient with severe spinal deformity. CT scan showed a filling defect in the base of the bladder, and ultrasound revealed a sessile space-occupying lesion arising from the left bladder wall posteriorly. Flexible and, later, rigid cystoscopy and biopsy demonstrated necrotic slough and debris but no tumour. Ultrasound scan after 2 weeks showed a similar lesion, but ultrasound-guided biopsy was normal with nothing to explain the ultrasound appearances. A follow-up ultrasound scan about 7 weeks later again showed an echogenic mass, but the echogenic mass was seen to move from the left to the right side of the bladder on turning the patient, always maintaining a dependent position. The echogenic bladder mass thus represented a collection of debris, which had accumulated as a result of chronic retention of urine and physical immobility. CONCLUSION: Recognising the true, non-neoplastic nature of these lesions enabled us to avoid unnecessary surgical procedures in these patients, who were at high risk of surgical complications because of severely compromised cardiac and respiratory function.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
4/11. The pedicled intercostal neurovascular island skin flap for lumbosacral trunk reconstruction.The pedicled intercostal neurovascular island flap is a useful flap due to its pedicle length, skin pedicle size and possibility for sensation. We present our experience of using this flap for lumbosacral trunk reconstruction in four patients.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
5/11. Colocalized nevus depigmentosus and lentigines with underlying breast hypoplasia: a case of reverse mutation?nevus depigmentosus (ND) is classically defined as a congenital nonprogressive hypopigmented macule, stable in size and distribution. There have been many reports of colocalization of ND and lentigines. We describe development of multiple lentigines over ND in a 9-year-old girl along with hypoplasia of the underlying breast. The case is being reported to highlight the phenotypic manifestation of reverse mutation and the coincidental breast hypoplasia that has not been reported before.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
6/11. Neurological bypass for sensory innervation of the penis in patients with spina bifida.PURPOSE: Most male patients with spina bifida have normal sexual desires. During puberty they begin to realize that they can achieve erection and sexual intercourse but without any sensation in the penis. We hypothesized that restored sensation in the penis would greatly contribute to their quality of life and sexual health. In this prospective study we investigated the outcome of a new operative neurological bypass procedure in patients with spina bifida. MATERIALS AND methods: In 3 patients who were 17, 18 and 21 years old with a spinal lesion at L5, L4 and L3-L4, respectively, the sensory ilioinguinal nerve (L1) was cut distal in the groin and joined by microneurorrhaphy to the divided ipsilateral dorsal nerve of the penis (S2-4) at the base of the penis. All patients underwent preoperative and postoperative neurological and psychological evaluations. RESULTS: By 15 months postoperatively all patients had achieved excellent sensation on the operated side of the glans penis. They were unequivocally positive about the results and the penis had become more integrated into the body image. In 2 patients masturbation became more meaningful and 1 became more sexually active with and without his partner. CONCLUSIONS: The newly designed neurological bypass procedure in patients with spina bifida resulted in excellent sensibility in the glans penis. The new sensation appeared to contribute to the quality of the patient sexuality and sexual functioning as well as to the feeling of being a more normal and complete individual who is more conscious of the penis. This new operation might become standard treatment in patients with spina bifida in the future.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
7/11. Decrease in size of intrathoracic meningocele following insertion of a ventriculo-venous shunt.A case of spontaneous disappearance of an intrathoracic meningocele following insertion of a ventriculo-venous shunt is reported. The shunt was performed for treatment of hydrocephalus secondary to arnold-chiari malformation. The intrathoracic meningocele reappeared when the shunt obstructed and decreased in size when the obstruction was relieved.- - - - - - - - - - ranking = 5keywords = size (Clic here for more details about this article) |
8/11. Pseudotail associated with spinal dysraphism.A 5-year-old girl had a caudal appendage and her left buttock was larger than the righ buttock. X-ray examination revealed spina bifida and bony defect of sacrum; computed tomography demonstrated the extension of the tumor from subcutaneous tissue to the spinal canal. Histologically, the pseudotail contained lobulated fatty tissue which was consistent with lipoma. It emphasizes the fact that even lesions that are not situated in the median line should be carefully explored before excision.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
9/11. Cervical occult spinal dysraphism: MRI findings and the value of a vascular birthmark.spinal dysraphism is easily recognized in the overt form as a meningocele or myelomeningocele. The closed form or occult spinal dysraphism (OSD) can be overlooked. It occurs predominantly at the lumbosacral level, but OSD at the cervical level, although very rare, also occurs. The value of magnetic resonance imaging investigations in preparation for surgical treatment is emphasized. We discuss the value of various midline posterior skin anomalies as indicators of an underlying developmental defect in the neural axis. Hallmarks for OSD in the inferior third of the back are well known. They can also occur at the cervical level. Among these warning cutaneous midline changes, a vascular stain alone is rarely a clue for OSD whatever the spinal level involved, and specifically in the nuchal area.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
10/11. Surgical treatment of syringomyelia associated with spinal dysraphism.Clinical and radiological features of syringomyelia in 15 patients with spinal dysraphism are reported. There were 8 patients with occult spinal dysraphism (lumbosacral lipoma) and 7 with spina bifida aperta (meningomyelocele). syringomyelia with spinal dysraphism can be radiologically divided into two types according to the dysraphic state. The syrinx in the patients with occult spinal dysraphism occurred immediately rostral to the lipoma and was localized to the lower thoracic to lumbar levels, while in the meningomyelocele patients the syrinx extended from the cervical to the thoracic level. Large syrinx formation was recognized in 1 of the 7 occult spinal dysraphism cases and 3 of the 8 meningomyelocele cases. For syringomyelia with occult spinal dysraphism, 4 patients underwent syringo-subarachnoid shunting (S-S shunt, 2 cases) or syringostomy (2 cases) during an untethering operation. In the case of meningomyelocele, S-S shunts were placed in 2 patients. Collapse of the syrinx was achieved in all 6 patients who underwent S-S shunting or syringostomy. Decreased size of the syrinx was also noted in 3 occult spinal dysraphism patients who underwent untethering operations alone. In conclusion, a large syrinx in the case of spinal dysraphism should be surgically treated. S-S shunting is effective in both types of syringomyelia. foramen magnum decompression may be an alternative method of surgical treatment for syringomyelia in patients with meningomyelocele.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
| | Next -> |