A rare pediatric case of McCune-Albright syndrome with acute visual disturbance: Case report.
Medicine (Baltimore)
; 101(6): e28815, 2022 Feb 11.
Article
em En
| MEDLINE
| ID: mdl-35147121
ABSTRACT
RATIONALE McCune-Albright syndrome (MAS) is a rare disorder characterized by clinical findings, which includes fibrous dysplasia (FD). FD is a benign tumor that leads to increased rates of bone fracture. In some MAS cases with FD, facial deformities, severe pain, and orbital neuropathies are complicated. Aneurysmal bone cyst (ABC) is a benign bone tumor and rare complication of FD. PATIENT CONCERNS A 9-year-old boy was admitted to our hospital because of acute visual disturbance. DIAGNOSIS AND INTERVENTIONS:
The patient was clinically diagnosed as ABC complicated with MAS, and he underwent surgery.OUTCOMES:
After the surgery, his sight became normal. Recurrence of ABC and visual disturbance was not observed in 3âyears. Genetic analysis of a tissue sample from the ABC lesion by next-generation sequencing revealed a somatic activating GNAS mutation. LESSONS To the best of our knowledge, this is the first case report of MAS causing optic neuropathy complicated with ABC. ABC complicated with MAS is extremely rare, but it should be considered as a possible diagnosis in patients with acute visual loss and facial swelling. In addition, our case had OAS, which is an uncommon syndrome and a rare complication in ABC with MAS, and rapid decompression of the ABC was effective in improving the patient's eyesight.
Texto completo:
1
Coleções:
01-internacional
Temas:
Geral
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Tipos_de_cancer
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Outros_tipos
Base de dados:
MEDLINE
Assunto principal:
Transtornos da Visão
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Doenças do Nervo Óptico
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Cistos Ósseos Aneurismáticos
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Displasia Fibrosa Óssea
Tipo de estudo:
Prognostic_studies
Limite:
Child
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Humans
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Male
Idioma:
En
Revista:
Medicine (Baltimore)
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
Japão