We report a child presenting with a triad of congenital third nerve palsy, cerebellar hypoplasia and facial capillary hemangioma.[ncbi.nlm.nih.gov]
Besides, she presented AIS with limb-shaking transient ischemic attack, a rare clinical presentation of AIS in patients of PHACE syndrome.[ncbi.nlm.nih.gov]
The present report presents the cases of two female infants with PHACE syndrome, both of whom had additional congenital defects of subependymal gray matter heterotopia, craniofacial arterial anomalies, and pituitary dysfunction.[ncbi.nlm.nih.gov]
PHACE(S) syndrome is a neurocutaneous syndrome with a wide array of presentations. The most known and present trait is facial hemangioma 5 cm.[ncbi.nlm.nih.gov]
We present the case of a patient who presented with respiratory distress at birth secondary to a large nasal glioma.[ncbi.nlm.nih.gov]
We report a female patient who had a scalp hemangioma, a cleft uvula, an upper sternal defect, pectus excavatum, arachnodactyly, pes planus, and joint hypermobility. She had rupture of an aortic aneurysm after minor trauma at 11 years of age.[ncbi.nlm.nih.gov]
Horner syndrome is characterized by a persistently small pupil (miosis), drooping of the eyelid (ptosis), and little to no sweating on the affected side of the face (anhidrosis).[rarediseases.org]
Horner syndrome is characterized by a persistently small pupil (miosis), drooping of the eyelid (ptosis), and little to no sweating on the affected side of the face (anhidrosis).[rarediseases.org]
Less common findings include abnormally smalleyes (microphthalmia), congenital cataracts, improper development of the cornea in which it blends into the white of the eye (sclerocornea), and a cleft of missing tissue in the colored portion of the eye[rarediseases.org]
There was considerable overlap between subset populations with dysphagia, speech delay, and languagedelay. A subset of individuals with PHACE syndrome experience dysphagia, speech delay, or languagedelay.[ncbi.nlm.nih.gov]
In all, 44% had languagedelay, 36% gross motor delay, and 8% fine motor delay; 52% had an abnormal neurological exam, with speech abnormalities as the most common finding. Overall, 20 of 29 (69%) had neurodevelopmental abnormalities.[ncbi.nlm.nih.gov]
One of the outcomes can be a stroke, symptoms of which include paralysis of the face, arms or legs, loss of speech, etc., or temporary loss of neurologic function of body parts or speech (transient ischemic attack, or “TIA”).[rarediseases.org]
Her height and weight were below the 5th percentile for her chronologic age, and she had amenorrhea. Laboratory investigations revealed both thyroid and GH deficiencies and confirmed the diagnosis of hypogonadotropic hypogonadism.[ncbi.nlm.nih.gov]
This review highlights the diagnostic criteria for PHACE syndrome, the imaging workup for extracutaneous involvement, the treatment of infantile hemangioma, and the importance of a multidisciplinary approach in the management of these patients.[ncbi.nlm.nih.gov]
Along with brain malformations, numerous abnormalities of the pituitary, meninges, and globes were observed, highlighting the need for careful radiologic assessment of these structures in the neuroimaging workup for PHACE syndrome. 2017 Wiley Periodicals[ncbi.nlm.nih.gov]
Cardiac and hypercoagulable workups were negative. Stroke etiology was determined to be PHACE syndrome. Conclusions: Neurocutaneous syndromes are typically diagnosed in childhood and can be a rare cause of stroke in young.[neurology.org]
Thyroid function tests and a detailed history and physical should be part of initial PHACE workup.[dermatologyadvisor.com]
Clinical Testing and Workup Affected individuals will also undergo periodic screening to detect potential signs and symptoms associated with this disorder.[rarediseases.org]
Treatment modalities included systemic and intralesional steroids for cutaneous and airway hemangiomas, submucosal resection and laryngotracheal reconstruction for airway hemangiomas, repair of aortic coarctation, and laser treatment of cutaneous hemangiomas[ncbi.nlm.nih.gov]
The child may also need other treatments, depending on which other organs or structures are involved. PHACE syndrome requires evaluation and treatment by a multidisciplinary team of experts.[cincinnatichildrens.org]
The use of propranolol for the treatment of infantile hemangiomas is reviewed.[ncbi.nlm.nih.gov]
Low-dose propranolol is effectively for the treatment of IH associated with PHACE syndrome. Recent evidence suggests IH is comprised of mesoderm-derived haemogenic endothelium.[ncbi.nlm.nih.gov]
The intracranial lesions were evaluated in terms of their location, signal intensity characteristics, enhancement pattern, and degree of involution following treatment.[ncbi.nlm.nih.gov]
Prognosis in this condition depends primarily on cardiovascular and cerebral artery complications associated with the syndrome.[ncbi.nlm.nih.gov]
The prenatal presence of 2 PHACE criteria led to the suspicion of this syndrome, and prenatal diagnostic criteria might be developed to improve information regarding the prognosis of cerebellar malformations.[ncbi.nlm.nih.gov]
Prognosis The prognosis depends on the severity of the clinical signs associated with the cerebral and arterial anomalies. Neurological sequelae are frequent. The documents contained in this web site are presented for information purposes only.[orpha.net]
The prenatal presence of 2 PHACE criteria led to the suspicion of this syndrome, and prenatal diagnostic criteria might be developed to improve information regarding the prognosis of cerebellar malformations. References 1.[journals.sagepub.com]
The prognosis of children with PHACE syndrome depends on the heart disease as well as other concomitant lesions.[revespcardiol.org]
Further research is needed to determine possible etiologies, optimal evaluation, and outcomes. 2006 Wiley-Liss, Inc.[ncbi.nlm.nih.gov]
The etiology of PHACE syndrome remains unclear, and its clinical spectrum is broad. The current case suggests that the spectrum of PHACE syndrome should be further expanded to include other forms of cerebral disorder.[ncbi.nlm.nih.gov]
PHACE syndrome (OMIM #606519) is a neurocutaneous syndrome of unknown etiology and pathogenesis. We report on an individual with PHACE syndrome with a complete deletion of SLC35B4 on 7q33.[ncbi.nlm.nih.gov]
Stroke etiology was determined to be PHACE syndrome. Conclusions: Neurocutaneous syndromes are typically diagnosed in childhood and can be a rare cause of stroke in young.[neurology.org]
Etiology The aetiology of the syndrome is unknown. Diagnostic methods Diagnosis can be confirmed by CT scan, MRI and cardiopulmonary investigations. Angiography is not performed systematically.[orpha.net]
Summary Epidemiology This association of manifestations is rare and less than 100 cases have been reported in the literature so far. The syndrome is much more common in females than in males (8:1).[orpha.net]
(See "Infantile hemangiomas: Epidemiology, pathogenesis, clinical features, and complications" .) (See "Infantile hemangiomas: Evaluation and diagnosis" .)[uptodate.com]
Tasnádi Epidemiology and etiology of congenital vascular malformations Sem Vasc Surg, 6 (1993), pp. 200-203 [52.] E. Quecedo, M.P. Gil-Mateo, V. Pont, M.I. Febrer, A.[analesdepediatria.org]
We made an epidemiological investigation in our hospital, concerning the collection of haemocultures, because in a short period of time, from 255 haemocultures, 33 positive haemocultures were reported, 11 of them being positive with the same germs: aerobic[biochemia-medica.com]
The high prevalence of arterial anomalies in this cohort has implications for clinical management and future research regarding the pathophysiology of PHACE.[ncbi.nlm.nih.gov]
The rarity of the syndrome, the lack of a unifying pathophysiologic mechanism, and the marked variety of clinical and imaging manifestations all lead to potential controversy.[ajnr.org]
As children with PHACE syndrome are frequently accompanied with cerebrovascular anomalies and at a risk of cerebral hypoperfusion, prevention of cerebral hypoperfusion is crucially important during general anesthesia.[ncbi.nlm.nih.gov]
The patient underwent successful endovascular embolization of the hemangioma that prevented further bleeding. Sinus pericranii is a rare finding that has not, to our knowledge, been previously associated with PHACE syndrome.[ncbi.nlm.nih.gov]
Management and treatment Management should be multidisciplinary with the aim of stabilising the cardiac and neurological manifestations and preventing angioma growth.[orpha.net]
Early identification of neurocutaneous syndromes allows for proper surveillance, evaluation, and preventative education for development of complications. Disclosure: Dr. Fitzgerald has nothing to disclose. Dr. Chandra has nothing to disclose. Dr.[neurology.org]