RESUMEN
We report a case of a young Chinese male presenting with sequential, painless, bilateral visual loss in Hong Kong. He was diagnosed to have Leber's hereditary optic neuropathy with genetic workup showing G11778A mutation with over 80% heteroplasmy. He was started on idebenone treatment 11 months after onset of the binocular disease. To our best knowledge, this is the first case of Leber's hereditary optic neuropathy treated with idebenone in Hong Kong. The recent evidence of the diagnosis and treatment of this devastating disease is reviewed.
Asunto(s)
Antioxidantes/uso terapéutico , Atrofia Óptica Hereditaria de Leber/diagnóstico , Ubiquinona/análogos & derivados , Adolescente , Antioxidantes/administración & dosificación , Diagnóstico Diferencial , Hong Kong , Humanos , Masculino , Atrofia Óptica Hereditaria de Leber/tratamiento farmacológico , Ubiquinona/administración & dosificación , Ubiquinona/uso terapéutico , Agudeza VisualRESUMEN
BACKGROUND: Placental site trophoblastic tumor (PSTT) is a rare neoplasm of intermediate trophoblastic cells of the placenta. There is a wide range of biologic behavior, with metastases occurring in about 15% of cases. Cases with metastases have all presented with abnormal vaginal bleeding or gynecological symptoms. METHODS: We describe a 31-year-old G3P3003 woman who presented with several alopecic patches resembling alopecia areata, which on biopsy proved to be metastatic, previously unsuspected, PSTT. CONCLUSIONS: This represents the first case in which PSTT presented initially with metastases, and specifically, with cutaneous metastases. A new primary tumor source of alopecia neoplastica is presented. The role of mitotic counts in predicting prognosis in PSTT is supported. Alopecia areata was mimicked very closely. Dermatologists should be alert to any features atypical of alopecia areata, including erythema, induration, or palpability, and maintain a low threshold for biopsy in atypical cases.