Medicine · 2018
Corkscrew retinal vessels and retinal arterial macroaneurysm in a patient with neurofibromatosis type 1: A case report.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Lu Jia, Liu Haiyan, Zhang Lin, Ma Lingjun, Zhou Hongyan
Аннотация
RATIONALE: Neurofibromatosis type I (NF-1) is a multisystem autosomal dominant disease characterized by pigmentation and the growth of tumors along nerves in the skin, brain, and other parts of the body. It is caused by a mutation in the NF-1 tumor suppressor gene. NF-1 vascular disease is an important complication of the disease.
PATIENT CONCERNS: The study reports a unique case of a patient with NF-1 with 2 simultaneous vascular abnormalities, involving tiny spiral venous changes (corkscrew retinal vessels) and retinal arterial macroaneurysms. Our patient was diagnosed with NF-1 as she met the following National Institutes of Health consensus criteria for the diagnosis of NF-1: more than 6 cafe au lait macules, of a maximum diameter ≥15mm, 2 neurofibromas within the dermis, and Lisch nodules on the iris.
DIAGNOSES: Retinal arterial macroaneurysm in the left eye, corkscrew retinal vessels related to NF-1 and Neurofibromatosis type I.
INTERVENTIONS: Due to the possibility of automatic involution of macroaneurysms, recovery may not affect vision (4). A cardiologist advised the patient to take nifedipine tablets (30mg/d) to treat her high blood pressure while continuing observation of the macroaneurysms.
OUTCOMES: Preretinal, intraretinal, and subretinal hemorrhage near the retinal artery aneurysm in the patient showed partial absorption at 3 months of follow-up.
LESSONS: Our analysis suggests that retinal macroaneurysm formed in the patient's body are due to neurofibroma type I secondary hypertension. The case study also indicated the symptoms of newly discovered neurofibroma type I which led to retinal microvascular abnormalities. We believe that such changes in eye blood vessels are rare and this case provides an insight to the field of neurology and ophthalmology.
PATIENT CONCERNS: The study reports a unique case of a patient with NF-1 with 2 simultaneous vascular abnormalities, involving tiny spiral venous changes (corkscrew retinal vessels) and retinal arterial macroaneurysms. Our patient was diagnosed with NF-1 as she met the following National Institutes of Health consensus criteria for the diagnosis of NF-1: more than 6 cafe au lait macules, of a maximum diameter ≥15mm, 2 neurofibromas within the dermis, and Lisch nodules on the iris.
DIAGNOSES: Retinal arterial macroaneurysm in the left eye, corkscrew retinal vessels related to NF-1 and Neurofibromatosis type I.
INTERVENTIONS: Due to the possibility of automatic involution of macroaneurysms, recovery may not affect vision (4). A cardiologist advised the patient to take nifedipine tablets (30mg/d) to treat her high blood pressure while continuing observation of the macroaneurysms.
OUTCOMES: Preretinal, intraretinal, and subretinal hemorrhage near the retinal artery aneurysm in the patient showed partial absorption at 3 months of follow-up.
LESSONS: Our analysis suggests that retinal macroaneurysm formed in the patient's body are due to neurofibroma type I secondary hypertension. The case study also indicated the symptoms of newly discovered neurofibroma type I which led to retinal microvascular abnormalities. We believe that such changes in eye blood vessels are rare and this case provides an insight to the field of neurology and ophthalmology.