Craniocervical CT and MR imaging of Schwartz-Jampel syndrome.
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Schwartz-Jampel syndrome is a rare, inherited disorder characterized by myotonia, skeletal deformities, facial dysmorphism, and growth retardation. In this report of an adolescent male patient with Schwartz-Jampel syndrome, CT and MR imaging revealed basilar invagination, platybasia, Chiari I malformation, hyperpneumatized mastoids with intramastoid dural sinuses, platyspondyly, bulbous zygoma, and blunted pterygoid processes. (+info)
A rare anomaly of 5 ossicles in the pre-interparietal part of the squamous occipital bone in north Indians.
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Examination of 125 adult north Indian skulls revealed a rare anomaly of 5 large ossicles in the upper central part of the squamous occipital bone. Their location and possible derivation are briefly discussed. (+info)
Osteochondrosis of the occipital condyles and atlanto-occipital dysplasia in a Belgian horse.
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A lesion in the cervical region of a 14-month-old Belgian gelding with severe ataxia was suspected. Necropsy revealed symmetric focal cartilage defects compatible with osteochondrosis of the occipital condyles and atlanto-occipital dysplasia. To our knowledge this is the first equine report of symmetrical osteochondrosis of the occipital condyles causing neurologic signs. (+info)
Two asymmetric contoured plate-rods for occipito-cervical fusion.
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The author presents a retrospective clinical study addressing the outcome after posterior stabilisation of the occipital-cervical spine using a new cranio-spinal implant. The range of surgical methods for operative treatment of occipito-cervical instability remains wide, and it is still a demanding technique that frequently requires improvisation by the surgeon. No previous studies have been published of occipito-cervical reconstructions using two contoured asymmetrical occipital plates interdigitating in the midline at the occiput and allowing various methods of cervical fixation, by means of different hooks, a claw device or screws. Nine patients with severe occipito-cervical instability and/or subaxial malalignment underwent reconstructive surgery with the new implants between 1998 and 2001. Seven patients suffered from rheumatoid arthritis (RA) including cranial settling. Two patients had widespread cervical metastases. All patients suffering RA were treated by preoperative cervical traction for up to 28 days, and intraoperative traction, to try to restore the malalignment. Traction was also used, to diminish pain and to improve neurological symptoms. The lowest vertebra fused was T3. All patients were immobilised with an external orthosis or brace for 6 weeks or 3 months. A solid fusion was achieved in all patients. None of the patients deteriorated postoperatively. No serious complications occurred. One occipital screw broke and one hook loosened, needing a re-fixation. The simplicity of applying these cranio-cervical implants makes them practical for every orthopaedic or neurosurgeon with a special interest in cervical spine surgery. (+info)
Removal of large acoustic neurinomas (vestibular schwannomas) by the retrosigmoid approach with no mortality and minimal morbidity.
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OBJECTIVE: To evaluate the safety and efficacy of removing large acoustic neurinomas (> or =3 cm) by the retrosigmoid approach. METHODS: Large acoustic neurinomas (mean (SD), 4.1 (0.6) cm) were removed from 50 consecutive patients by the retrosigmoid suboccipital approach while monitoring the facial nerve using a facial stimulator-monitor. Excision began with the large extrameatal portion of the tumour, followed by removal of the intrameatal tumour, and then removal of the residual tumour in the extrameatal region just outside the porus acusticus. The last pieces of tumour were removed by sharp dissection from the facial nerve bidirectionally, and resected cautiously in a piecemeal fashion. RESULTS: There were no postoperative deaths. The tumour was removed completely in 43 of 50 patients (86%). The facial nerve was anatomically preserved in 92% of the patients and 84% had excellent facial nerve function (House-Brackmann grade 1/2). One patient recovered useful hearing after tumour removal. Cerebrospinal fluid leak occurred in 4%, but there were no cases of meningitis. All but two patients (96%) had a good functional outcome. CONCLUSIONS: The method resulted in a high rate of functional facial nerve preservation, a low incidence of complications, and good functional outcomes, with no mortality and minimal morbidity. Very favourable results can be obtained using the retrosigmoid approach for the removal of large acoustic neurinomas. (+info)
Loss of the Max-interacting protein Mnt in mice results in decreased viability, defective embryonic growth and craniofacial defects: relevance to Miller-Dieker syndrome.
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The Mnt gene encodes a Mad-family bHLH transcription factor located on human 17p13.3. Mnt is one of 20 genes deleted in a heterozygous fashion in Miller-Dieker syndrome (MDS), a contiguous gene syndrome that consists of severe neuronal migration defects and craniofacial dysmorphic features. Mnt can inhibit Myc-dependent cell transformation and is hypothesized to counterbalance the effects of c-Myc on growth and proliferation in vivo by competing with Myc for binding to Max and by repressing target genes activated by Myc : Max heterodimers. Unlike the related Mad family members, Mnt is expressed ubiquitously and Mnt/Max heterodimers are found in proliferating cells that contain Myc/Max heterodimers, suggesting a unique role for Mnt during proliferation. To examine the role of Mnt in vivo, we produced mice with null (Mnt(KO)) and loxP-flanked conditional knock-out (Mnt(CKO)) alleles of Mnt. Virtually all Mnt(KO/KO) mutants in a mixed (129S6 x NIH Black Swiss) or inbred (129S6) genetic background died perinatally. Mnt-deficient embryos exhibited small size throughout development and showed reduced levels of c-Myc and N-Myc. In addition, 37% of the mixed background mutants displayed cleft palate as well as retardation of skull development, a phenotype not observed in the inbred mutants. These results demonstrate an important role for Mnt in embryonic development and survival, and suggest that Mnt may play a role in the craniofacial defects displayed by MDS patients. (+info)
Imaging features of calvarial tuberculosis: a study of 42 cases.
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BACKGROUND AND PURPOSE: Tuberculosis of the calvaria is a rare entity, and only anecdotal reports describing its imaging features have been previously published in the literature. We report the role of conventional radiography and CT findings on in the evaluation of calvarial tuberculosis in 42 cases. METHODS: Forty-two cases of pathologically verified calvarial tuberculosis were analyzed retrospectively by using conventional radiography and CT imaging. The patients included 28 male and 14 female subjects ranging in age from 5 to 48 years (mean age, 16 years). Surgery was performed in 28 patients, and the remaining 14 patients underwent fine needle aspiration cytology. The histologic findings were consistent with the diagnosis of tuberculosis. At follow-up after 2 years, all patients had completely recovered. RESULTS: The male-to-female ratio was 2:1 (28 male and 14 female). The maximum number of patients affected by calvarial tuberculosis ranged in age from 11 to 20 years (61.2%). The average duration of symptoms was 2.5 months. Thirty-nine (92.8%) patients had subgaleal soft tissue swelling, whereas 31(73.8%) patients had a well-defined lytic lesion in the calvaria. The parietal bone was most commonly affected site of the calvaria (ie, in 22 patients [52.4%]). These lesions were detected at conventional radiography in 34 (80.95%) patients. CT depicted bone destruction in 36 patients (85.7%) cases. Extradural lesions and intraparenchymal pathologies were detected in 22 (52.3%) patients and 5 (11.9%) patients, respectively. CONCLUSION: In calvarial tuberculosis, conventional radiographs of the skull show focal bone destruction often with accompanying soft tissue opacity. CT helps in assessing the extent of bone destruction, scalp swelling, and degree of intracranial involvement. Surgery involving bone debridement is resorted to only in cases where bone destruction is extensive. (+info)
Progressive calvarial and upper cervical pneumatization associated with habitual valsalva maneuver in a 70-year-old man.
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A 70-year old man with a 15-year-history of chronic daily Valsalva maneuvers for left ear congestion presented with worsening vertigo and calvarial (occipitoparietal) and upper cervical hyperpneumatization. With continued frequent Valsalva maneuvers, subsequent studies demonstrated increased pneumatization with extension of air into the epidural space, causing mass effect on the left parietal lobe. Four months after discontinuing the habitual Valsalva maneuvers, CT demonstrated resorption of the epidural air and partial regression of the calvarial pneumatization. (+info)