جستجوی مقالات مرتبط با کلیدواژه « PHACES syndrome » در نشریات گروه « پزشکی »

PHACES syndrome is a neurocutaneous syndrome that consists of posterior fossa brain malformation, hemangiomas of the face, arterial cerebrovascular malformation, cardiovascular anomalies (Coarctation of the aorta), eye anomaly, and sternal defect or supraumbilical raphe. Most of these manifestations would interfere with anesthesia and hence need major considerations.

A 2.5-month-old female weighing 2100 gr was a candidate for laser therapy due to retinopathy of prematurity. She was diagnosed with PHACES syndrome. Her anesthesia was induced and maintained with sevoflurane. LMA #1 was used for airway management. No complications occurred during or after anesthesia, and she was discharged the next day.

PHACES syndrome interacts with numerous anesthesia-related characteristics, such as airway management, cardiovascular disease, and CNS malformations. Based on the accompanying characteristics, perioperative care for these patients should be tailored.

PHACES syndrome (Posterior Fossa Malformations, Hemangioma, Arterial Anomalies, Cardiac Defects and Coarctation of the Aorta, Eye Abnormalities, and Sternal Abnormalities or Ventral Developmental Defects) is a rare neurocutaneous syndrome, which characteristic feature is large segmental hemangioma. Extracutaneous involvement is an important cause of morbidity in this syndrome.
Described below is an infant with large hemangiomatous lesions on the right side of the face, suprasternal notch, midline sternal defect and supraumbilical raphe. Based on the new consensus on the diagnostic criteria of PHACES syndrome, a definitive diagnosis of PHACES syndrome has been corroborated. Accordingly, our patient was analyzed with regards to other clinical features through magnetic resonance imaging of the head, neck and abdomen, all of which were normal. In echocardiography, the patient showed atrial septal defect, in addition to ipsilateral conductive hearing loss, contralateral cataract and Horner’s syndrome, which was reported only in very few cases. The clinical presentation of the present case was different from most previous reported ones, as segmental hemangioma in PHACES syndrome was, for the most part, located on the left side of the face and ocular involvement was predominantly reported ipsilateral to hemangiomatous lesion.

To describe an infant with PHACE(S) syndrome [posterior fossa anomalies (P), hemangiomas (H), arterial anomalies (A), cardiac abnormalities and coarctation of aorta (C), eye abnormalities (E), and the sternal defects (S)] with unusual strabismus, congenital glaucoma, and new systemic manifestations.
A 6-month-old girl was referred with large hemangiomas on the left side of the face.
In the ocular examination, right esotropia and hypotropia, and limitation of elevation in adduction in the right eye were seen. Morning glory disk anomaly was seen in the left fundus. Intraocular pressure (IOP) was 28 mmHg in the right eye and 15 mmHg in the left eye. Brain computed tomography (CT) scan demonstrated Dandy-Walker malformation. In the CT angiography of the thoracic arteries, coarctation of aorta in descending part, the aberrant origin of the left subclavian artery from the end of the aortic arch, and anomalous origin of the left vertebral artery from the posterior aspect of the aortic arch were found. Therefore, the presence of large facial hemangioma, posterior fossa anomaly, aortic arch anomalies, and morning glory disk confirmed the diagnosis of PHACE(S) syndrome. Propranolol (0.5 mg/kg/day) was initiated to treat hemangioma and coarctation of aorta. Due to uncontrolled glaucoma, goniotomy was performed in the right eye 3 months after the first visit. One year after the initial visit, the hypotropia and esotropia of the right eye considerably decreased.
To our knowledge, this report was the first report of a pattern like Brown’s syndrome (may be called apparent Brown’s syndrome) and the second report of the congenital glaucoma in a case of PHACE(S) syndrome. In addition, the anomalous origin of the vertebral artery from the aortic arch has not been reported in the PHACE(S) syndrome. Thus, the clinicians should perform the glaucoma work-up for each patient with this syndrome.