1/77. E.N.T. manifestations of Von Recklinghausen's disease.Von Recklinghausen's Disease (VRD) is a neurocutaneous, systemic disease characterized by CNS tumors and disorders, cafe-au-lait spots, generalized cutaneous neurofibromata, skeletal deformities, and somatic and endocrine abnormalities. It is an autosomal dominant, hereditary disorder found in approximately 1:2500 to 3300 births. There are many manifestations of this disease in the head and neck region of interest to the otolaryngologist. case reports of three patients with multiple ENT involvements are detailed. A review of the literature is presented with a brief discussion of diagnosis and treatment. The most common intracranial tumor in the adult is the acoustic neuroma, usually bilateral, while in the child it is the astrocytoma. A defect in the sphenoid bone is common and may produce temporal lobe herniation into the orbit causing pulsatile exophthalmos. Involvement of the facial bones usually causes radiolucent defects secondary to neurofibromata within nerve pathways, and a variety of asymmetrical changes, especially within the mandible. "elephantiasis" of the face is a hypertrophy of the soft tissues overlying a neurofibroma, often quite extensive and disfiguring. Laryngeal and neck involvement may compromise the airway and early and repeated surgical intervention is required. The over-all malignancy rate approaches 30%, indicating that the patient with VRD may be predisposed to developing a malignancy. There appears to be an increased surgical risk in these patients, with some demonstrating abnormal responses to neuromuscular blockade.- - - - - - - - - - ranking = 1keywords = nerve (Clic here for more details about this article) |
2/77. mucocele of the anterior clinoid process: case report.OBJECTIVE AND IMPORTANCE: Of the primary intracranial mucoceles, those arising from the optic canal or anterior clinoid process are extremely rare. To our knowledge, only five cases have been reported. The pathogenesis of mucoceles at this unusual site is unclear, but the previously reported cases suggest that these mucoceles may originate from pneumatizing air cells in the anterior clinoid processes. CLINICAL PRESENTATION: A 43-year-old woman presented with diplopia. magnetic resonance imaging showed a small mass, compressing the optic nerve, in the medial portion of the left anterior clinoid process. The medial portion of the anterior clinoid process surrounding the mass was eroded and the bony margins of the mass were well corticated in computed tomographic scans. There was no direct connection between any paranasal sinus and the mass cavity, as assessed in imaging studies and intraoperatively confirmed. The pathological diagnosis after the operation indicated a mucocele. CONCLUSION: Considering the absence of air cells in the anterior clinoid processes, the mucocele in this case might have originated from ectopic mucinous tissue that appeared during the development of the optic canal, rather than from a pneumatizing air cell.- - - - - - - - - - ranking = 1keywords = nerve (Clic here for more details about this article) |
3/77. Determination of extent and activity with radionuclide imaging in erdheim-chester disease.erdheim-chester disease usually involves the diaphyseal and metaphyseal regions of tubular bones and various visceral organs. A 56-year-old woman presented with the histologically confirmed diagnosis of erdheim-chester disease. A Tc-99m MDP bone scan revealed the entire extent of the skeletal disease and showed unusual involvement of the epiphyses and axial skeleton. In addition to MRI, a Ga-67 citrate scan including SPECT showed extensive soft-tissue infiltration of different organs. Both Tc-99m MDP and Ga-67 scintigraphy are useful tools in determining the distribution of this rare disease.- - - - - - - - - - ranking = 1.2952923536409keywords = organ (Clic here for more details about this article) |
4/77. Articular complications of homotransplantation and chronic renal hemodialysis.Renal homotransplantaion and chronic hemodialysis are accepted methods of treating end-stage kidney disease. However, these procedures are fraught with complications involving bones, joints, and soft tissues. transplantation and immunosuppressive therapy problems include "connective tissue-like" reactions, infections in joints and avascular necrosis of bone. Long term hemodialysis may accentuate secondary hyperparathyroidism, renal osteodystrophy, and metastatic calcification, which can be minimized by phosphorous control or calcium loading in the dialysate. In the presence of osteomalacia, vitamin d may be helpful and parathyroidectomy is indicated if autonomy is present. In one patient undergoing long term hemodialysis, a chalky material was aspirated from the olecranon bursa. Two inorganic solid phases were identified as being present - a major phase, octacalcium phosphate (ocp) and a minor phase, calcite (CaCO3). Because of its elusive properties, the role of OCP in biological systems is poorly known and can easily escape detection. methods of identification of OCP and its potential role in crystal deposition syndromes are discussed.- - - - - - - - - - ranking = 0.64764617682043keywords = organ (Clic here for more details about this article) |
5/77. bacteremia and skin/bone infections in two patients with X-linked agammaglobulinemia caused by an unusual organism related to Flexispira/helicobacter species.Two patients with Bruton's X-linked agammaglobulinemia are described with bacteremia and skin/bone infection due to an organism which by 16S rRNA gene sequence analysis was most closely related to "Flexispira" rappini (and thus designated a Flexispira-like organism, FLO) and more distantly related to the helicobacter species. The organism required microaerobic conditions and, supplemental H(2) gas for growth and was reliably stained with acridine orange. In common with helicobacter cinaedi infections, the focus of the FLO infection was in one case in the blood vessels or lymphatics of an extremity and in the other case in the skin and adjacent bone of an extremity. In both cases, prolonged IV antibiotic therapy was necessary to clear the infection. The susceptibility of XLA patients to FLO infection appears to be related to the fact that XLA is associated with severe B cell (humoral) immunodeficiency and thus these patients have difficulty with intravascular or intralymphatic infection. These findings elucidate the nature of FLO infections in humans and point the way to their detection and treatment.- - - - - - - - - - ranking = 4.533523237743keywords = organ (Clic here for more details about this article) |
6/77. Campomelic dwarfism.The campomelic syndrome is a short-limb, usually fatal, neonatal dwarfism. It is characterized by bowed lower limbs, especially the tibia, usually associated with a cutaneous dimple over the anterior skin. There is delayed calcification of the epiphyses and delayed mineralization of the spine and pelvis. The cartilages of the tracheobronchial tree are hypoplastic, contributing to death from respiratory problems. Other associated abnormalities are unusual appearing facies, cleft palate, absent olfactory nerves and talipes equinovarus. Less commonly seen are cardiac, renal and brain anomalies.- - - - - - - - - - ranking = 1keywords = nerve (Clic here for more details about this article) |
7/77. Further delineation of the DOOR syndrome.Two related sibships from an extended family have been observed with the features of the DOOR syndrome. These features included deafness, onychodystrophy, osteodystrophy, microcephaly, and global developmental retardation with progressive blindness. seizures, which were associated with hypsarrhythmia, were frequent and difficult to control and ultimately were the cause of death in two patients. An MRI brain scan of case 1 showed a number of abnormalities including markedly reduced myelination. The urine organic acid analysis showed a ten-fold increase of 2-oxoglutarate. In one patient the placenta was noted to have multiple fluid filled cysts, which is a feature reported in other metabolic diseases. It is suggested that there may be genetic heterogeneity in the syndrome, and the presence of increased 2-oxoglutarate is associated with a more severe phenotype which is frequently lethal.- - - - - - - - - - ranking = 0.64764617682043keywords = organ (Clic here for more details about this article) |
8/77. technetium-99m MDP bone scintigraphic findings of hypercalcemia in accelerated phase of chronic myelogenous leukemia.hypercalcemia in accelerated phase of chronic myelogenous leukemia (CML) is very rare. Its pathogenesis is considered humoral hypercalcemia of malignancies mediated by parathyroid hormone-related protein (PTHrP). In severe hypercalcemia, calcifications in kidneys, skin, vessels, heart, and stomach may occur. Our two cases were admitted because of severe hypercalcemia in accelerated phase of CML. On Tc-99m methylene diphosphonate (MDP) bone scintigraphies, a marked tracer accumulation was seen in the lung, heart, stomach and kidney. We report increased tracer accumulation of multiple organs on Tc-99m MDP bone scintigraphy in two rare hypercalcemic patients with CML.- - - - - - - - - - ranking = 0.64764617682043keywords = organ (Clic here for more details about this article) |
9/77. Metachronous eosinophilic granuloma of bone.We present the case of a 4-year-old girl who developed a metachronous osseous lesion of the left distal femur five months after successful surgical treatment of an eosinophilic granuloma in the left proximal femur. After treatment of the second lesion with curettage, no further recurrence occurred during a follow-up interval of 17 months. Radiologists should be aware that additional eosinophilic granulomas of bone, occurring in up to four years after the initial diagnosis, should still be interpreted as a localized form of Langerhans'cell histiocytosis with a more favorable prognosis than the multifocal disseminated form, with involvement of organ systems other than the skeletal system.- - - - - - - - - - ranking = 0.64764617682043keywords = organ (Clic here for more details about this article) |
10/77. Cerebro-oculo-facio-skeletal syndrome as a human example for accelerated cochlear nerve degeneration.BACKGROUND: Cerebro-oculo-facio-skeletal (COFS) syndrome is a rare autosomal-recessive disorder that includes microcephaly, severe mental retardation, and multiple congenital anomalies. Otologic findings are usually limited to descriptions of the auricles. PATIENT AND methods: The authors report inner ear histopathologic findings of a deceased 13-year-old patient with COFS. A histologic study of the inner ear in COFS syndrome has not yet been described. This patient was documented as having a profound bilateral sensorineural hearing loss at the age of 2 years. RESULTS: Histologic evaluation revealed accelerated neural and neuronal degeneration at the cochlear and retrocochlear levels. Remaining myelinated nerve fibers, counted in the spiral lamina, had degenerated by up to 97% when compared with normal innervation densities. Afferent nerve fibers innervating inner hair cells were completely absent, whereas medial efferent fibers to outer hair cells were found. vestibular nerve fibers were less affected. CONCLUSION: The authors report inner ear findings that differ from animal models of primary cochlear neural degeneration and that resemble the pattern of hereditary cochlear nerve degeneration reported in Friedreich's ataxia.- - - - - - - - - - ranking = 8keywords = nerve (Clic here for more details about this article) |
| | Next -> |