21/107. Osseous overgrowth in congenital amputations of the upper limb: report of 3 cases treated with autologous stump plasty. Osseous overgrowth is an important problem after traumatic or surgical amputations in children. It is rather exceptional in congenital amputations. We report three cases of congenital amputation of the humerus with osseous overgrowth. They were treated with an autologous stump plasty according to Marquardt's technique. ( info) |
22/107. Klippel-Trenaunay syndrome (angio osteohypertrophy syndrome): a report of 3 cases. Klippel-Trenaunay syndrome was first reported in 1900 by Klippel and Trenaunay. The syndrome is characterized by the triad of vascular nevi, venous varicosity, and hyperplasia of soft tissue-and possibly bone-in the affected area. The original description was made with regard to the extremities. The syndrome is diagnosed on the basis of 2 or 3 symptoms. The 3 patients reported here presented with hemangioma and hypertrophy of the jawbone and concomitant malocclusion. There were clinically no obvious varicose veins. It appears that gravity plays an important role in the venous drainage from the head and neck region, and this could be the reason for the rarity of varicose veins in the head and neck region when compared with lower extremities. In addition, 2 of the 3 cases showed exophytic pedunculated growth arising from the gingiva, which has not been reported in any previous case reports. The following report presents the clinical features in the orofacial region and highlights the clinical significance of this syndrome. ( info) |
23/107. Autosomal dominant craniometaphyseal dysplasia with atypical features. Craniometaphyseal dysplasia (CMD) is a rare genetic disorder of bone modelling characterised by hyperostosis and sclerosis of the craniofacial bones, and abnormal modelling of the metaphyses. Clinically, autosomal dominant (AD) CMD is characterised by facial distortion and cranial-nerve compression. The goals of surgical treatment for AD CMD are cosmetic recontouring of the sclerotic craniofacial bones, correction of nasal obstruction and correction or prevention of neurological manifestations. We describe the successful correction of AD CMD craniofacial manifestations in an individual with atypical findings, and outline an approach for correcting the craniofacial deformities associated with this rare disorder. ( info) |
24/107. Dysplastic cortical hyperostosis (Kozlowski-Tsuruta syndrome): report of a second case. We report a fetus from a pregnancy that was terminated at 26 weeks gestation for hydrops and short limb skeletal dysplasia. The parents were first cousins. Post mortem examination showed pulmonary hypoplasia and hepatomegaly. The radiographs showed shortening and cortical thickening of all long bones. The cortical thickening was most marked in the long bones, ribs, clavicles and scapulae but spared the skull vault, facial bones and pelvis. There were coronal clefts in the lower lumbar vertebrae. The clinical and radiological features of this fetus conform to those reported in a stillborn male by Kozlowski and Tsuruta in 1989 (Br J Radiol 62:376-378). This is the second reported case of this condition and confirms that it is a distinct and recognisable, lethal skeletal dysplasia. The parental consanguinity in our patient suggests that this condition may be inherited in an autosomal recessive manner. ( info) |
25/107. Case report: bilateral vocal cord paralysis caused by cervical spinal osteophytes. Thyroid and cervical surgery, tracheal intubation, trauma and neurodegenerative and neuromuscular diseases may cause bilateral vocal cord paralysis. There are only a few reported cases of bilateral cord paralysis associated with cervical hyperostosis in the English literature. We report the MR and CT findings of a case of bilateral vocal cord paralysis caused by cervical spinal osteophytes compressing the recurrent laryngeal nerves. ( info) |
26/107. Marked calvarial thickening and dural changes following chronic ventricular shunting for shaken baby syndrome. We report the case of a 23-year-old woman who was abused at the age of 5 months. She suffered from complications frequently associated with shaken baby syndrome, such as hydrocephalus secondary to subarachnoid hemorrhage. The patient underwent a procedure to place a ventriculoperitoneal shunt 3 weeks after her presentation with signs of abuse. The ventricular shunt remained in place throughout her life, and the patient received multiple revisions. She also was noted to have a markedly thickened calvarium on both radiographs and computed tomographic scan at 6 years old. She died following an episode of grand mal status epilepticus. An autopsy was performed and her skull was found to be thickened circumferentially. Histologic examination revealed increased cancellous space with normal trabecular bone. It is hypothesized that intracranial hypotension resulting from chronic ventricular shunting lead to her thickened calvarium, a condition previously reported as hyperostosis cranii ex vacuo. Dural changes seen microscopically corroborate this hypothesis. ( info) |
| Skeletal abnormalities such as hypertrophic callus formation and "popcorn" calcifications are rare radiological findings of osteogenesis imperfecta, causing tumor-like appearances on imaging. We report on a 7-year-old girl with osteogenesis imperfecta presenting with hepatomegaly and palpable lymphadenopathy in the left inguinal region on physical examination. Computed tomography examination revealed a high-density mass-like lesion of the manubrium sterni. ultrasonography and a lateral roentgenogram of the chest verified that this was a pseudomass caused by a bowed sternal manubrium. ( info) |
28/107. Hyperostotic paraganglioma of occipitotemporal bone. A 25-year-old male presented with off-and-on vertigo of 10-year duration. He had left-sided cerebellar signs, left vocal cord paresis, and minimal left-sided hearing impairment. Computed tomography of the head revealed significant hyperostosis of squamous occipital, mastoid, and petrous temporal bone with no adjacent soft tissue mass. On excision, it turned out to be paraganglioma. paraganglioma as a pure bony mass is not reported in the literature. The site of origin of such a tumor could not be ascertained, even on generous screening. The tumor remained nonsecretory on clinical and biochemical investigations. ( info) |
29/107. Reversible sclerotic changes of lumbar spine and femur due to long-term oral isotretinoin therapy. We present a rare case of retinoid-induced sclerotic changes of lumbar spine and femur demonstrated by dual energy x-ray absorptiometrie (DEXA). The patient had flowing ossification along thoracic spine resembling diffuse idiopathic skeletal hyperostosis (DISH), but there was no ligament calcification in the lumbar spine or pelvis. After discontinuation of the treatment, gradual decline of bone mineral density at lumbar and femoral sites was detected with serial DEXA measurements. To the best of our knowledge, although various abnormalities of bone due to retinoids have been described before, reversible sclerotic changes have not been reported. ( info) |
30/107. A giant hyperostosing meningioma in a child. A case of 15-year-old boy with a giant hyperostotic meningioma is presented. The patient had a huge prominence at the posterior parietal region. The CT scan showed a giant intracranial tumor in the left parieto-occipital region under the hyperostotic bone. The tumor and hyperostotic bone were totally resected with the involved portion of the sagittal sinus. Histological study revealed a meningioma. The presence of such a huge hyperostosis and some peculiarities of childhood meningiomas are discussed. ( info) |