England Elizabeth,  Snyder Elizabeth,  Pastakia Devang,  Pruthi Sumit,  Sarma Asha

Final Pr. ID: Poster #: EDU-043

The phakomatoses are neurocutaneous disorders arising from the abnormal development of cells of embryonic ectodermal and mesodermal origin. Although commonly involving central nervous system and cutaneous structures, these disorders can also involve the visceral organs, vascular system, and connective tissue. There are over 30 neurocutaneous entities, each with unique genetic and physical manifestations. Clinical diagnosis may be challenging, as the physical and imaging expressions of disease are variable and broad. Importantly, many affected individuals may present with less common manifestations of disease, and furthermore, less common disorders may be difficult to recognize.

The goals of this educational exhibit are to: 1) Review the pathogenesis, genetic underpinnings, and clinical features of phakomatoses. 2) Emphasize lesser-known imaging manifestations of more commonly encountered phakomatoses (e.g., cortical dysplasia in NF2). 3) Detailed review of imaging manifestations of less common phakomatoses (e.g., Parry-Romberg syndrome).

Covered conditions will include commonly encountered phakomatoses (neurofibromatosis types 1 and 2, tuberous sclerosis, Sturge-Weber syndrome, Von Hippel Lindau disease etc.), and less commonly encountered entities such as basal cell nevus syndrome and other phakomatosis groups such as vascular phakomatoses (e.g, hereditary hemorrhagic telangectasia, PHACE syndrome, meningioangiomatosis, diffuse neonatal hemangiomatosis); melanophakomatoses (e.g., neurocutaneous melanosis, incontinentia pigmenti); and overgrowth syndromes (PTEN hamartoma tumor syndromes). Read More

Authors:  England Elizabeth , Snyder Elizabeth , Pastakia Devang , Pruthi Sumit , Sarma Asha

Keywords:  Phakomatosis, Neurocutaneous disorder

Hamouda Ehab,  Gupta Achint,  Sharaf Ahmed

Final Pr. ID: Poster #: CR-014

PHACE syndrome (P: posterior fossa malformations, H: haemangioma, A: arterial anomalies, C: coarctation of the aorta and cardiac defects, E: eye abnormalities, S: sternal defects) is one of the neurocutaneous disorders. It describes a constellation of abnormalities that can occur in association with segmental craniofacial infantile haemangioma, which is the hallmark of this syndrome. Intracranial anomalies are the most common extracutaneous feature of PHACE syndrome. Typical intracranial malformations include posterior fossa malformations like Dandy-Walker complex and cerebellar hemispheric hypoplasia ipsilateral to the hemangioma, arterial anomalies like agenesis, aneurysms, arterial kinking or coiling, Moyamoya-like collateralization and persistent embryonic arteries. Less frequent findings include cortical dysplasia and cortical migration anomalies, dysplasia of the corpus callosum, intracranial capillary hemangiomas and arachnoid cysts.

We present 3 cases which we think significantly contribute to the growing recognition of relatively unique intracranial associations that are likely important for the diagnosis of PHACE syndrome.
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Authors:  Hamouda Ehab , Gupta Achint , Sharaf Ahmed

Keywords:  PHACE, MRI, Neurocutaneous