Long-Term Outcome of Optic Nerve Encasement and Optic Nerve Decompression in Patients With Fibrous Dysplasia

Cutler, Carolee M.; Lee, Janice S.; Butman, John A.; FitzGibbon, Edmond J.; Kelly, Marilyn H.; Brillante, Beth A; Feuillan, Penelope; Robey, Pamela Gehron; Dufresne, Craig R.; Collins, Michael T.

doi:10.1227/01.neu.0000254440.02736.e3

Cited by 89 publications

(34 citation statements)

References 16 publications

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“…GH excess was suspected on the basis of either rapid growth in the absence of precocious puberty (patient 3) or the attainment of normal or greater than parental predicted height in the setting of precocious puberty (which should result in short stature) and massive expansion of the craniofacial bones, which occurs in association with GH excess in MAS (14, 18, 19). GH excess was diagnosed on the basis of an elevated random GH, nonsuppressible GH on a standard oral glucose tolerance test, and elevated IGF-I.…”

Section: Resultsmentioning

confidence: 99%

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SomaticGNASMutation Causes Widespread and Diffuse Pituitary Disease in Acromegalic Patients with McCune-Albright Syndrome

Vortmeyer

Gläsker

Mehta

et al. 2012

The Journal of Clinical Endocrinology & Metabolism

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Context:McCune-Albright syndrome (MAS) is caused by sporadic mutations of the GNAS. Patients exhibit features of acromegaly. In most patients, GH-secreting pituitary adenomas have been held responsible for this presentation. However, surgical adenomectomy rarely eliminates excess GH production.Objective:The aim of this study was to elucidate pituitary pathology in patients with MAS and to explain the basis of failure of adenomectomy to eliminate GH hypersecretion.Design and Setting:We conducted a case series at the National Institutes of Health.Intervention(s):Interventions included medical therapy and transsphenoidal surgery.Patients and Main Outcome Measures:We studied clinical and imaging features and the histology and molecular features of the pituitary of four acromegalic MAS patients.Results:We identified widespread and diffuse pituitary gland disease. The primary pathological changes were characterized by hyperplastic and neoplastic change, associated with overrepresentation of somatotroph cells in structurally intact tissue areas. Genetic analysis of multiple microdissected samples of any type of histological area consistently revealed identical GNAS mutations in individual patients. The only patient with remission after surgery received complete hypophysectomy in addition to removal of multiple GH-secreting tumors.Conclusions:These findings indicate developmental effects of GNAS mutation on the entire anterior pituitary gland. The pituitary of individual cases contains a spectrum of changes with regions of normal appearing gland, hyperplasia, and areas of fully developed adenoma formation, as well as transitional stages between these entities. The primary change underlying acromegaly in MAS patients is somatotroph hyperplasia involving the entire pituitary gland, with or without development of somatotroph adenoma. Thus, successful clinical management, whether it is medical, surgical, or via irradiation, must target the entire pituitary, not just the adenomas evident on imaging.

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Section: Resultsmentioning

confidence: 99%

“…The morbidities of vision and hearing loss associated with fibrous dysplasia of the craniofacial bones in MAS appears to be more common and more severe in patients with GH excess (14, 19, 20). This highlights the importance of early detection and successful treatment of the pituitary endocrinopathy.…”

Section: Discussionmentioning

confidence: 99%

SomaticGNASMutation Causes Widespread and Diffuse Pituitary Disease in Acromegalic Patients with McCune-Albright Syndrome

Vortmeyer

Gläsker

Mehta

et al. 2012

The Journal of Clinical Endocrinology & Metabolism

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“…Однако повышенная секреция СТГ негативно сказывается на выражен-ности фиброзно-кистозной дисплазии, усугубляя костные деформации (в частности, при наличии очагов в костях черепа, вызывая макроцефалию, усиление черепно-лицевых деформаций и оптиче-скую нейропатию) [14]. Исходя из этих данных, па-циентам с очагами фиброзно-кистозной дисплазии черепа и избытком СТГ назначают препараты сома-тостатина [15].…”

Section: Discussionunclassified

Сushing’s syndrome in early infancy due to МcCune—Albright syndrome

Makazan

Викторовна²,

Orlova

et al. 2016

Probl Endokrinol (Mosk)

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McCune—Albright syndrome (MAS) is a rare multisystem disorder, classically defined by the clinical triad of fibrous dysplasia of bones (FD), café-au-lait skin spots, precocious puberty (PP) and other hyperfunctioning endocrinopathies. Diagnosis can be made if there are at least 2 of the 3 classical features. It is caused by somatic mutations of the GNAS gene encodes stimulate α-subunit of G protein (Gas). Gas is crucial for mediating effects of the lot of peptide hormones. Increased activity of Gas leads to multisystem hyperfunction. Some features are common (such as gonadotropin-independent precocious puberty) and another signs occur seldom. The clinical presentation of MAS is variable, the features occur at the different age. One of the rare feature of the MAS is Cushing’s syndrome due to bilateral adrenal hyperplasia, which usually occurs in the neonatal period. We describe clinical case of ACTH-independent hypercortisolism in the boy with MAS.

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“…FD is often associated with pain [20]. In MAS, endocrine abnormalities can exacerbate the disease [17,21–24]. Even children who initially present with a great amount of disease on imaging are quite functional in mobility and daily life skills.…”

Section: Introductionmentioning

confidence: 99%

Disease severity and functional factors associated with walking performance in polyostotic fibrous dysplasia

Paul

Gabor

Rudzinski

et al. 2014

Bone

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The purpose of this study was to determine the association between measures of disease severity, impairment, and ambulation ability in persons with polyostotic fibrous dysplasia (PFD). A cross-sectional sample of 81 patients (ages 5–57) with polyostotic fibrous dysplasia was evaluated as part of an ongoing study. Subjects were scored on the Skeletal Disease Burden Score (SDBS), completed a 9-minute walk test (9MW), manual muscle testing (MMT), and measurements of range of motion (ROM). Correlations between continuous variables were calculated using the Pearson correlation coefficient and ordinal variables by Spearman correlation coefficient. It was found that subjects with more severe disease walked slower than those with less skeletal disease, with the exception of the youngest subjects. Walking velocity was faster in subjects with better hip strength and range of motion and slower in those with bilateral coxa vara. Those subjects with more severe disease had less range of motion, were weaker at the hips, and more likely to have leg length discrepancy. Skeletal disease severity was associated with hip weakness, leg length discrepancy, and loss of range of motion. Inmost cases, findings did not differ in the presence or absence of associated endocrinopathies. Skeletal disease severity, MMT and ROM each has an impact on walking efficiency in persons with PFD. These findings suggest that treatment focused on strategies to improve or, at least, maintain hip strength and range of motion, correct leg length discrepancies and hip malalignment may help preserve ambulation ability in persons with PFD and that treatment should begin at a young age.

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Long-Term Outcome of Optic Nerve Encasement and Optic Nerve Decompression in Patients With Fibrous Dysplasia

Cited by 89 publications

References 16 publications

SomaticGNASMutation Causes Widespread and Diffuse Pituitary Disease in Acromegalic Patients with McCune-Albright Syndrome

SomaticGNASMutation Causes Widespread and Diffuse Pituitary Disease in Acromegalic Patients with McCune-Albright Syndrome

Сushing’s syndrome in early infancy due to МcCune—Albright syndrome

Disease severity and functional factors associated with walking performance in polyostotic fibrous dysplasia

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