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Unilateral ocular ptosis in a patient with type 1 neurofibromatosis

2021; Medical Association of São Paulo; Linguagem: Inglês

10.5327/1516-3180.078

1806-9460

Bruno Custódio Silva, Giulia Righetti Tuppini Vargas, Jéssica Karine Hartmann, Laira Francielle Ferreira Zottis, Mateus Arenhardt de Souza, Maria Isabelle Nakano Vieira, Guilherme Rocha Spiller, Paulo Ricardo Gazzola Zen, Rafael Fabiano Machado Rosa,

Meningioma and schwannoma management

Context: Neurofibromatosis type 1 (NF1) is a genetic condition characterized by “café au lait” spots, axillary and inguinal ephelides and cutaneous neurofibromas. Case report: A 16 year-old famele patient with description that her father and other family members had the “café au lait” spots. From the age of 5, she started with slight facial asymmetry, which increased over time. On physical exam at 16 years old, she had facial asymmetry, convergent strabismus with a left lower eyelid cleft than the contralateral cleft, in addition to left eyelid ptosis and left eye proptosis. There were also “café au lait” spots and ephelides on the body. Computerized tomography scan of the skull showed an important architecture distortion of the skull base’s bones of the anterior and middle fossa of the skull, sphenoid dysplasia and left orbital encephalocele. In the ophthalmological evaluation, corneal opacity and ocular proptosis involving the left eye were found. At the age of 17, she underwent a complex craniotomy with craniofacial reconstruction due to temporo-fronto-orbital dysplasia. Conclusions: The clinical findings and the patient’s family history were compatible with the diagnosis of NF1. Bone changes, such as sphenoid dysplasia, may be present and lead to symptoms. In this case, bone changes in the skull led to the occurrence of an encephalocele, which in turn caused an ocular proptosis.