Neurodevelopmental Outcomes in Children with <scp>PHACE</scp> Syndrome

Brosig, Cheryl L.; Siegel, Dawn H.; Haggstrom, Anita N.; Frieden, Ilona J.; Drolet, Beth A.

doi:10.1111/pde.12870

Cited by 16 publications

(13 citation statements)

References 18 publications

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“…10 Although the children did not consistently score lower than the general population on most neurocognitive tests, they did score lower on language tasks. 10 In a retrospective study of 29 children with PHACE syndrome referred for neurologic evaluations, 69% were found to have neurodevelopmental abnormalities including language delay, speech abnormalities, gross motor delay, and fine motor delay. 11 Furthermore, over half of the children in this study with structural brain abnormalities based on magnetic resonance imaging (MRI) review had abnormal neurodevelopmental outcomes.…”

Section: Discussionmentioning

confidence: 93%

“…Neurocognitive deficits have been recognized in association with PHACE syndrome, though studies have been primarily limited to children. In a prospective study conducted from 2009 to 2013, 25 children aged 4‐10 with PHACE syndrome underwent neurodevelopmental evaluation by a clinical psychologist or psychometrician . Although the children did not consistently score lower than the general population on most neurocognitive tests, they did score lower on language tasks .…”

Section: Discussionmentioning

confidence: 99%

“…In a prospective study conducted from 2009 to 2013, 25 children aged 4‐10 with PHACE syndrome underwent neurodevelopmental evaluation by a clinical psychologist or psychometrician . Although the children did not consistently score lower than the general population on most neurocognitive tests, they did score lower on language tasks . In a retrospective study of 29 children with PHACE syndrome referred for neurologic evaluations, 69% were found to have neurodevelopmental abnormalities including language delay, speech abnormalities, gross motor delay, and fine motor delay .…”

Section: Discussionmentioning

confidence: 99%

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Natural history of PHACE syndrome: A survey of adults with PHACE

Stefanko

Cossio

Powell

et al. 2019

Pediatric Dermatology

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Background Awareness of PHACE syndrome has increased; however, little information exists regarding its natural history, especially in patients over the age of 18. We aim to describe the natural history of PHACE to enhance clinical management and counseling of patients. Methods A cohort of patients ≥ 18 years was identified through the PHACE Syndrome Registry and a Vascular Anomalies Clinic Database. A cross‐sectional survey was designed after a review of the literature by PHACE experts (IF, JP, DS). Questions were selected by consensus, and the survey was conducted using the Qualtrics platform and via in‐person interviews. A 75% response rate was found. Results Eighteen adults—17 females and one transgender male—completed the survey. Respondents ranged in age from 18 to 59, with 24 being the mean age. Eighty‐nine percent reported experiencing headaches, and 17% reported experiencing acute but transient symptoms mimicking acute ischemic stroke, later diagnosed as atypical migraines. Thirty‐three percent reported hearing loss, and 67% endorsed dental issues. One patient experienced two arterial dissections. Three‐fourths who attempted conception were successful, and none of their children had clinical features of PHACE. Because results were based on a retrospective survey, data captured were prone to recall bias and not objective. Results were limited by a small sample size. Conclusions Health care providers should be aware of a possible increased risk of neurovascular complications, including atypical migraines mimicking transient ischemic attacks and arterial dissection, in adults with PHACE. Heritability has not been demonstrated, and future studies are needed to assess the risk of infertility.

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Section: Discussionmentioning

confidence: 93%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Natural history of PHACE syndrome: A survey of adults with PHACE

Stefanko

Cossio

Powell

et al. 2019

Pediatric Dermatology

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“…Neurological follow-up is important in determining the prognosis and appropriate therapeutic intervention. 23 …”

Section: Vascular and Structural Involvement Of The Brainmentioning

confidence: 99%

PHACE syndrome: clinical manifestations, diagnostic criteria, and management

Rotter

Machado

Gontijo

et al. 2018

An. Bras. Dermatol.

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Infantile hemangioma can be linked to other organ malformations. In 1996, PHACE syndrome was first defined as the association of large and segmental infantile hemangioma, usually on the face, head, or cervical region, with malformations of the posterior fossa of the brain, arterial anomalies of the central nervous system, coarctation of the aorta, cardiac defects, and ocular abnormalities. Over 300 cases of PHACE syndrome have been reported, and it is cconsidered one of the most common neurocutaneous vascular disorders in childhood. Knowledge of the features and locations of lesions that imply a greater risk of systemic involvement is crucial for the diagnosis and proper management of PHACE syndrome patients. 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.

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“…Dandy–Walker complex, dysgenesis of the cerebellar vermis, hypoplasia of the brainstem and malformations of cortical development are also features (Steiner et al, ). The clinical impact of these structural brain malformations can include focal neurologic deficits, speech delays, and/or neurodevelopmental concerns (Brosig, Siegel, Haggstrom, Frieden, & Drolet, ; Tangtiphaiboontana et al, ). Abnormalities of the pituitary gland can be associated with hypopituitarism, especially growth hormone deficiency (Uihlein, Garzon, Goodwin, & Liang, ).…”

Section: Introductionmentioning

confidence: 99%

PHACE syndrome: Infantile hemangiomas associated with multiple congenital anomalies: Clues to the cause

Siegel

2018

Am J Med Genet

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Infantile hemangiomas (IH) are the most common vascular tumor of infancy with an estimated 80,000 annual diagnoses in the United States. The genetic mechanisms underlying IH and the related multi‐organ birth defect syndromes, PHACE (an acronym for Posterior fossa brain malformations, segmental facial Hemangiomas, Arterial anomalies, Cardiac defects, Eye anomalies, and sternal clefting or supraumbilical raphe) and LUMBAR (an acronym for Lower body hemangiomas, Urogenital anomalies, Myelopathy, Bone deformities, Anorectal malformations/Arterial anomalies, Renal anomalies) remain unsolved. With advances in next generation sequencing (NGS), genomic alterations have been identified in a wide range of vascular anomaly syndromes. We hypothesize that PHACE is a genetic disorder, caused by somatic mutations, likely in cancer genetic pathways. Identification of the genetic etiology will lead to improved diagnosis in PHACE syndrome and development of targeted therapies for IH and related congenital anomalies.

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Neurodevelopmental Outcomes in Children with PHACE Syndrome

Cited by 16 publications

References 18 publications

Natural history of PHACE syndrome: A survey of adults with PHACE

Natural history of PHACE syndrome: A survey of adults with PHACE

PHACE syndrome: clinical manifestations, diagnostic criteria, and management

PHACE syndrome: Infantile hemangiomas associated with multiple congenital anomalies: Clues to the cause

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