ReviewVirchows Archiv : an international journal of pathology2018
Head and neck manifestations of an undiagnosed McCune-Albright syndrome: clinicopathological description and literature review.
Review in Virchows Archiv : an international journal of pathology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 7 citations in OpenAlex.
- Impact of endoscopy and related technologies on indications for transsphenoidal pituitary surgery for growth hormone-producing pituitary neuroendocrine tumors in McCune-Albright syndrome: illustrative case.Journal of neurosurgery. Case lessons · 2026Article
- Unlocking the Genetic Secrets of Acromegaly: Exploring the Role of Genetics in a Rare Disorder.Current issues in molecular biology · 2024Review
- Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium.Orphanet journal of rare diseases · 2019Review
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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Registered trials
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