[Facial hemangioma associated with arterial anomalies, coarctation of the aorta, and eye abnormalities: PHACES syndrome]. / Hémangiome facial associé à des anomalies artérielles et oculaires et à une coarctation de l'aorte : syndrome PHACES.

BACKGROUND: Hemangiomas are frequent in childhood. Their association with dysmorphic anomalies is rare. Recently, the acronym "PHACES syndrome" was proposed to emphasize the association of Posterior fossa malformations, Hemangiomas, Arterial anomalies, Coarctation of the aorta and cardiac defects, Eye abnormalities, and Sternal malformations. CASE REPORT: A female child, 3 months old, had a large facial hemangioma. The physical examination was normal otherwise. A choroidal hemangioma and a papillary abnormality, causing amblyopia, were detected. The brain magnetic resonance imaging was normal. A subglottic hemangioma was found at endoscopy. At the age of 16 months, physical examination disclosed a heart murmur and coarctation of the aorta was detected. Moreover, the cardiac angiography showed diffuse arterial lesions. Strict surveillance was decided as there were no manifestations. DISCUSSION: Different abnormalities have been described to be associated with large facial hemangiomas. Frieden has grouped these abnormalities under the acronym PHACES. She described 43 hemangiomas and found 74 p. 100 Dandy Walker malformations and other posterior fossa malformations, 41 p. 100 arterial anomalies, 26 p. 100 cardiac or aortic malformations, 23 p. 100 ophthalmologic abnormalities. There is a high risk for the hemangiomas to develop in an airway localization. The prevalence of facial hemangiomas associated with other malformations is, to our knowledge, not known. In our department, 56 children were treated with corticosteroid therapy for severe facial hemangioma. 11 p. 100 had a cerebral abnormality. There were no cases with cardiac malformation or dysmorphism. PHACES syndrome is very rare but easy to remember. Thus in patients presenting a large facial hemangioma, it is important to conduct an attentive neurological examination completed by brain imaging and an extensive cardiovascular exploration. Special attention should be given to the ophthalmologic and sternal examinations as well as the search for hemangiomas in an airway localization.

Anterior uveitis as the initial sign of adult Kawasaki syndrome (mucocutaneous lymph node syndrome).

PURPOSE: To report anterior uveitis as the initial sign of adult Kawasaki syndrome (mucocutaneous lymph node syndrome). METHODS: Case report. RESULTS: Kawasaki syndrome was diagnosed in an 18-year-old woman with reduction of vision caused by anterior uveitis, fever, erythemateous cutaneous rash, conjunctival injection, and cervical lymph adenopathy, after medical examination including serologic tests. Aspirin and intravenous immunoglobulin were given, resulting in improvement of the condition. CONCLUSION: Slit-lamp examination should be useful in the evaluation of patients with suspected Kawasaki syndrome, differentiating this condition from streptococcal and staphylococcal toxin-mediated diseases, viral infections, and drug reactions, not commonly associated with anterior uveitis.

Blindness following gastrointestinal haemorrhage.

Loss of vision is a rare but well known complication of distant and recurrent haemorrhage. It shares a poor prognosis, with only 10-14% of cases likely to make a complete recovery. Visual symptoms, due to ischaemic anterior optic neuropathy, vary from blurred vision to complete loss of vision in one or both eyes. The pathogenesis of such ischaemia remains unclear. Gastrointestinal bleeding seems to be the leading cause of loss of vision secondary to haemorrhage. However, complete and permanent blindness following gastrointestinal bleeding has rarely been reported. We report the case of a 51 -year-old woman who complained of complete blindness following blood loss, secondary to peptic ulcer, and discuss the pathogenesis of such a complication.