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Virchows Archiv

, Volume 473, Issue 5, pp 645–648 | Cite as

Head and neck manifestations of an undiagnosed McCune-Albright syndrome: clinicopathological description and literature review

  • Beatriz Lecumberri
  • José Juan Pozo-Kreilinger
  • Isabel Esteban
  • Mariana Gomes
  • Aránzazu Royo
  • Álvaro Gómez de la Riva
  • Guiomar Pérez de Nanclares
Brief Report

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.

Keywords

Gigantism Fibrous dysplasia Headache McCune-Albright syndrome 

Notes

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Informed consent

Informed consent was obtained from the patient included in the study.

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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  • Beatriz Lecumberri
    • 1
  • José Juan Pozo-Kreilinger
    • 2
  • Isabel Esteban
    • 2
  • Mariana Gomes
    • 1
  • Aránzazu Royo
    • 3
  • Álvaro Gómez de la Riva
    • 4
  • Guiomar Pérez de Nanclares
    • 5
  1. 1.Endocrinology and Nutrition DepartmentLa Paz University HospitalMadridSpain
  2. 2.Pathology DepartmentLa Paz University HospitalMadridSpain
  3. 3.Radiology DepartmentLa Paz University HospitalMadridSpain
  4. 4.Neurosurgery DepartmentLa Paz University HospitalMadridSpain
  5. 5.Molecular (Epi)Genetic labAraba University Hospital, BioAraba National Health InstituteVitoriaSpain

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