PHACE syndrome with lip haemangioma, microphthalmos and persistent fetal vasculature
| Autor: | Bhagabat Nayak, Gautam Sinha, Sudarshan Kumar Khokhar, Lipika Nayak |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
genetic structures
medicine.medical_treatment Coarctation of the aorta Aortic Coarctation Article 030207 dermatology & venereal diseases 03 medical and health sciences 0302 clinical medicine 030225 pediatrics Medicine Humans Microphthalmos Eye Abnormalities Persistent fetal vasculature business.industry Neurocutaneous Syndromes Infant Diathermy General Medicine Anatomy Hyperplasia medicine.disease eye diseases Eye abnormality medicine.anatomical_structure Treatment Outcome Lens (anatomy) Lip Neoplasms Reflex Female sense organs business Hemangioma |
| Zdroj: | BMJ case reports. 2016 |
| ISSN: | 1757-790X |
| Popis: | An 11-month-old baby girl presented with white reflex in her left eye. On examination, there was a 6.5×5 mm(2)haemangioma present over her face involving on her lower lip. Systemic examinations were within normal limits. The left eye was small, with an axial length of 16.08 mm and had a cataract. Ultrasonography of the left eye was suggestive of the presence of a vascular stalk, persistent hyperplasia of a primary vitreous, or persistent fetal vasculature with vitreous haemorrhage. On MRI, the left eye was small with vitreous haemorrhage. Left eye lens aspiration was performed and the bleeding vascular stalk behind the lens was cauterised with diathermy. The right eye was normal. The patient was diagnosed as having PHACE syndrome (Posterior fossa malformations, Hemangiomas, Arterial anomalies, Coarctation of the aorta and other cardiac defects, and Eye abnormalities syndrome). On follow-up, she was able to follow light with her left eye. |
| Databáze: | OpenAIRE |
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