Title |
Head and neck manifestations of an undiagnosed McCune-Albright syndrome: clinicopathological description and literature review
|
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Published in |
Virchows Archiv, July 2018
|
DOI | 10.1007/s00428-018-2396-z |
Pubmed ID | |
Authors |
Beatriz Lecumberri, José Juan Pozo-Kreilinger, Isabel Esteban, Mariana Gomes, Aránzazu Royo, Álvaro Gómez de la Riva, Guiomar Pérez de Nanclares |
Abstract |
Craniofacial fibrous dysplasia, characteristic of McCune-Albright syndrome (MAS), is usually present in patients with MAS-related acromegaly. We report here the first case of a patient with an undiagnosed MAS presenting with an acute hydrocephalus. A 21-year-old male with gigantism and craniofacial fibrous dysplasia consulted for rapidly progressive headache. An acute obstructive hydrocephalus due to a 39 × 35-mm cystic lesion in the third ventricle was discovered and operated, obtaining hydrocephalus resolution. Pathology described a colloid cyst material and a growth hormone-secreting pituitary adenoma. Genetic study revealed the mosaic GNAS R201H mutation in the pituitary tissue, confirming a MAS diagnosis. Adequate hormonal control was achieved postoperatively. Our results suggest that long-term untreated growth hormone excess in patients with MAS-related craniofacial fibrous dysplasia might end compromising cerebrospinal fluid flow. A prompt diagnosis and coordinated multidisciplinary treatment may help to avoid long-term deleterious impact of hyperfunctioning endocrinopathies in these patients. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 28 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 6 | 21% |
Student > Doctoral Student | 4 | 14% |
Researcher | 3 | 11% |
Other | 1 | 4% |
Professor | 1 | 4% |
Other | 3 | 11% |
Unknown | 10 | 36% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 10 | 36% |
Nursing and Health Professions | 4 | 14% |
Biochemistry, Genetics and Molecular Biology | 1 | 4% |
Unknown | 13 | 46% |