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21/195. Craniofacial fibrous dysplasia complicated by acute, reversible visual loss: report of two cases.

    We report two cases of craniofacial fibrous dysplasia which presented with acute visual loss. The first patient had a sphenoid sinus mucocele compressing the optic chiasm. In the second patient the optic canal was narrowed by dysplastic bone. In both cases optic nerve decompression restored vision to normal.
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22/195. A case of pituitary adenoma associated with McCune-Albright syndrome.

    A 11-year-old boy presented with right temporal hemianopsia and was evaluated of a possible pituitary adenoma. At the age of six, he underwent surgery for facial deformities due to fibrous dysplasia. On admission, he had acromegalic features, was 170 cm tall, weighing 66 kg. The left side of his face was slightly deformed, and a cafe-au-lait spot was found on his right face. Endocrinologic examination revealed elevated basal level of serum GH (103.6 ng/ml, normal < 3 ng/ml) and PRL (259.1 ng/ml, normal < 30 ng/ml). Other endocrine functions were normal. CT showed hyperostosis of the right frontal, occipital, sphenoidal and maxillary bones. magnetic resonance imaging (MRI) revealed a pituitary macroadenoma with intraadenomatous cyst. On the basis of physical, endocrinologic and neuroradiologic examination, our diagnosis was pituitary adenoma with McCune-Albright syndrome. Surgery was performed by subfrontal approach. By light microscopy, the pituitary tumor represented a typical acidophilic adenoma. Immunoreactivity for GH and PRL were evident in most of the adenoma cells. Double immunostaining for GH and PRL demonstrated the co-existence of the two hormones in a few adenoma cells. However the majority of cells expressed only one hormone. After surgery the right temporal hemianopsia improved. Postsurgical endocrinologic examination revealed reduction in basal serum GH and PRL levels. Administration of bromocriptine decreased blood PRL levels but it had a limited action on GH hypersecretion.
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23/195. GNAS1 mutation and Cbfa1 misexpression in a child with severe congenital platelike osteoma cutis.

    We evaluated a 7-year-old girl with severe platelike osteoma cutis (POC), a variant of progressive osseous heteroplasia (POH). The child had congenital heterotopic ossification of dermis and subcutaneous fat that progressed to involve deep skeletal muscles of the face, scalp, and eyes. Although involvement of skeletal muscle is a prominent feature of POH, heterotopic ossification has not been observed in the head, face, or extraocular muscles. The cutaneous ossification in this patient was suggestive of Albright hereditary osteodystrophy (AHO); however, none of the other characteristic features of AHO were expressed. Inactivating mutations of the GNAS1 gene, which encodes the alpha-subunit of the stimulatory G protein of adenylyl cyclase, is the cause of AHO. Mutational analysis of GNAS1 using genomic dna of peripheral blood and of lesional and nonlesional tissue from our patient revealed a heterozygous 4-base pair (bp) deletion in exon 7, identical to mutations that have been found in some AHO patients. This 4-bp deletion in GNAS1 predicts a protein reading frameshift leading to 13 incorrect amino acids followed by a premature stop codon. To investigate pathways of osteogenesis by which GNAS1 may mediate its effects, we examined the expression of the obligate osteogenic transcription factor Cbfa1/RUNX2 in lesional and uninvolved dermal fibroblasts from our patient and discovered expression of bone-specific Cbfa1 messenger rna (mRNA) in both cell types. These findings document severe heterotopic ossification in the absence of AHO features caused by an inactivating GNAS1 mutation and establish the GNAS1 gene as the leading candidate gene for POH.
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keywords = cutis
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24/195. External cholesteaoma and fibrous dysplasia of temporal bone.

    cholesteatoma is a disease that involves almost exclusively the middle ear structures and the mastoid bone. In rare cases it involves the external auditory canal. The author would like to present case report of a patient affected by external ear canal cholesteatoma associated to fibrous dysplasia of the temporal bone. The problems related to the pathogenesis and the diagnosis of the disease are presented and discussed.
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25/195. "cafe-au-lait spots" caused by vitiligo in McCune-Albright syndrome.

    cafe-au-lait spots, fibrous dysplasia of bone, and endocrine gland hyperactivity are the principal features of McCune-Albright syndrome (MAS). cafe-au-lait spots appear at, or soon after, birth. We illustrate "cafe-au-lait spots" acquired during middle age in a patient with MAS that are an illusion caused by vitiligo. This 64-year-old woman is the oldest patient reported with this disorder.
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keywords = dysplasia
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26/195. McCune-Albright syndrome associated with non-autoimmune type of hyperthyroidism with development of thyrotoxic crisis.

    We report on a patient having McCune-Albright syndrome (MAS) associated with non-autoimmune hyperthyroidism associated with thyrotoxic crisis. Polyostotic fibrous dysplasia developed at age 8, and cafe-au-lait pigmentation was noted on the skin. At age 18, he developed hyperthyroidism with multiple adenomatous changes. The hyperthyroidism had been controlled with an antithyroid drug, but the antithyroid medication was discontinued by the patient at age 23. One year later, thyrotoxic crisis developed with fever, convulsions and loss of consciousness. thyroid function tests showed serum concentrations of free T(4) of 5.1 ng/dl, and serum TSH of <0.1 microU/ml. serum thyroglobulin concentrations were markedly increased (1,280 ng/ml). Three major thyroid-related autoantibodies (TSH receptor antibody, antithyroglobulin, and antimicrosomal antibodies) were not detected in serum. serum GH concentrations were increased, and not suppressed by the glucose tolerance test, but increased paradoxically by TRH. The thyrotoxic crisis was ameliorated by treatment with a beta-adrenergic receptor-blocking agent, glucocoroticoid, iodine, antithyroid drug, and antibiotics. The cause of thyroidal defect in our patient is not considered to be autoimmune hyperthyroidism, but hyperthyroidism due to constitutive activation of G(s)alpha by inhibition of its GTPase. This paper describes, as far as we know, the first case of MAS associated with thyrotoxic crisis. Because hyperthyroidism in this patient recurred quickly after discontinuation of the antithyroid drug, the mode of treatment for MAS-associated hyperthyroidism appears to be total surgical ablation or repetitive radioiodine therapy.
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ranking = 0.20000096957933
keywords = dysplasia, defect
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27/195. Mazabraud syndrome in two patients: clinical overlap with McCune-Albright syndrome.

    Mazabraud syndrome is a rare sporadic disorder, mainly characterized by bone fibrous dysplasia and intramuscular myxomas. We report here two new cases of Mazabraud syndrome. One of our patients (Patient 1) also had cafe-au-lait spots and multinodular goiter suggestive of McCune-Albright syndrome. We review the 37 previously reported cases with Mazabraud syndrome and discuss the 6/37 patients with criteria of Mazabraud and McCune-Albright syndromes. Based on the clinical overlap between the two syndromes, we tested the GNAS1 gene in blood leukocytes and skin fibroblasts of Patient 1, but found no evidence of an activating mutation in the GNAS1 gene.
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keywords = dysplasia
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28/195. Oblique wedge osteotomy for femoral diaphyseal deformity in fibrous dysplasia: a case report.

    A patient with fibrous dysplasia who had a three-dimensional diaphyseal deformity in the left femur was treated using an oblique wedge osteotomy. The patient was 26-year-old man with a history of two pathologic fractures in the midshaft of the femur. A 22 degrees angular deformity in the coronal plane and 15 degrees anterior bowing were corrected. The results at a followup 2 years after surgery were satisfactory in functional and radiologic terms. The technique and advantages of the oblique wedge osteotomy are discussed.
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29/195. Macroorchidism due to autonomous hyperfunction of sertoli cells and G(s)alpha gene mutation: an unusual expression of McCune-Albright syndrome in a prepubertal boy.

    We report an unusual observation of a 3.8-yr-old boy with McCune-Albright syndrome (MAS) associated with abnormal prepubertal testis enlargement and no sexual precocity. physical examination showed cafe-au-lait skin lesions, enlarged testes, prepubertal sized penis, and no pubic or axillary hair. Skeletal radiography disclosed fibrous dysplasia. The serum testosterone level was 0.58 nmol/L and remained below 1.4 nmol/L during the 4-yr follow-up. By contrast, serum inhibin B and anti-mullerian hormone concentrations were abnormally increased up to 255 pg/mL (childhood range, 35--180) and 792 pmol/L (childhood range, 309--566), respectively. The LH response to a GnRH test was in the prepubertal range, whereas the FSH response was blunted. This abnormal hormone concentration profile indicates autonomous hyperfunction of sertoli cells, with no evidence of Leydig cell activation. Testicular histology showed tubules with marked Sertoli cell hyperplasia and very rare germinal cells, and interstitial tissue containing mesenchymal cells but no mature leydig cells. dna sequence analysis from bone and testis tissues detected the known activating mutation in MAS that results in replacement of Arg by His at codon 201 of the G(s)alpha protein. Other endocrine tests showed excessive GH secretion and moderate adrenal androgen hypersecretion. These findings are consistent with the occurrence of an activating mutation of the G(s)alpha gene mainly expressed in sertoli cells and weakly expressed or absent in leydig cells. Abnormal prepubertal testicular enlargement extends the clinical spectrum of MAS, suggesting that determination of serum inhibin B and anti-mullerian hormone should be considered in boys with this syndrome. This observation demonstrates the usefulness of detailed molecular and biological investigations in atypical cases of MAS.
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keywords = dysplasia
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30/195. Clinical, endocrinological and radiography features in a child with McCune-Albright syndrome and pituitary adenoma.

    McCune-Albright syndrome is a rare syndrome presenting with polyostotic dysplasia, cafe-au-lait spots and multiple endocrinopathies that is very often combined with precocious puberty. We examined the clinical, endocrinological and radiological features in a boy with McCune-Albright syndrome and pituitary adenoma. x-rays, magnetic resonance (MRI) scan, whole body scintigraphy, single photon emission computer tomography (SPECT) and 3D-reconstruction from bone SPECT was performed to evaluate clinical improvement after treatment with sandostatin and pamidronic acid. After a six-month period of treatment with sandostatin and pamidronate, bone scintigraphy revealed significantly reduced activity. Treatment with bromocriptine and methimazole led to normalization of prolactin and thyroid hormone levels. Mobility of the patient improved. A significant improvement as a result of treatment with sandostatin and pamidronic acid was found in this patient with generalized fibrous dysplasia. So far, this condition has been treated with pamidronate only in adults, but severely affected children also benefit from this treatment regimen.
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ranking = 0.4
keywords = dysplasia
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