Dados do Trabalho

Título

McCune-Albright Syndrome and Concurrent Pituitary Macroadenoma: A Rare Case Report

Descrição sucinta do(s) objetivo(s)

McCune-Albright Syndrome (MAS) is a clinical syndrome with low incidence and the
concurrence with pituitary macroadenoma is very rare. This genetic disorder is known for its
triad of polyostotic fibrous dysplasia, precocious puberty, and café-au-lait skin spots. The
complexity of MAS arises from its somatic mosaic pattern due to a post-zygotic mutation in the
GNAS gene during embryogenesis, affecting various tissues. One notable manifestation of MAS
is craniofacial fibrous dysplasia, with potential complications such as compressive optic
neuropathy leading to vision loss.

História clínica

This case report details a compelling instance of McCune-Albright Syndrome (MAS) with a
predominant focus on optic nerve compression. A 20-year-old male presented with a history of
polyostotic fibrous dysplasia involving the cranial bones, notably the skull, leading to bilateral
optic nerve compression and subsequent visual impairment. Despite being under the care of a
neurosurgery team with a planned intervention, the patient sought emergency attention due to
a sudden exacerbation of symptoms.

Discussão e diagnóstico

Imaging studies, including a recent CT scan and MRI, revealed extensive craniofacial involvement and the presence of a macroadenoma in the left pituitary, contributing to the compression of the optic pathways. The observed thickening of bones in the base, cranial vault, and face, along with alterations in bone texture characterized by osteolysis and osteosclerosis, aligns with the known features of polyostotic fibrous dysplasia in MAS. These skeletal changes, particularly in the sphenoid bone, contribute to the compression of the optic nerve, resulting in optic neuropathy, which was demonstrated by magnetic resonance imaging (MRI) with hyperintensity on T2 weighted images of both optic nerves. The adenoma, present in a patient with MAS is difficult to treat by surgical removal of the tumor because of the skull base bone dysplasia, rendering the anatomy unfavorable.

Conclusões

The optic nerve compression in MAS poses intricate challenges in diagnosis and management. This case report findings underscore the need for a tailored, multidisciplinary approach, considering the variable nature of MAS presentations. The discussion surrounding prophylactic decompression based on imaging alone necessitates further exploration, emphasizing the importance of clinical correlation and imaging assessment in optimizing patient outcomes.

Palavras Chave

McCune-Albright; Pituitary Adenoma; Optic Nerve

Arquivos

Área

Neurorradiologia