To provide a general overview of the clinical and neuroimaging features of the most frequent phakomatosis. To review useful imaging findings that help diagnose them and to follow up on the treatment response.

Phakomatosis are a heterogeneous group of disorders caused by hereditary or sporadic mutations in tumor suppressor genes that affect the proliferation and migration of glial cells and neurons and the angiogenesis mechanism 1. The hereditary form follows an autosomal dominant patternwith variable expression and penetrance between and within families. Sturge-weber syndrome occurs sporadically, whereas it arises de novo in 50% of patients with Neurofibromatosis type I and II and 20% with Tuberous Sclerosis2. Phakomatosis present with cutaneous signs, multiple neoplasias, hamartomatous malformations or other congenital...

Phakomatosis are diagnosed based on clinical signs and imaging findings that help not only to accurate the diagnose but also to guide the treatment and the follow-up. Neurofibromatosis type one (NF-I): NF-I, also named von Recklinghausen's disease, is the most common hereditary neurocutaneous and tumoral syndrome inherited by a mutation in the gene that encodes the protein neurofibromin, a negative regulator of the proto-oncogene RAS 1. In neuroradiology, the characteristic features of NF-I include: Optic nerve gliomas: Gliomas can affect anywhere of the optic pathway,...

Phakomatosis are uncommon diseases, but knowing their neuroradiologic imaging and clinical criteria usually lead to a definite diagnosis. It is important to radiologically recognize and follow-up these patients as phakomatosis are chronic diseases that develop with time, so it is our role to promptly diagnose them to avoid the onset of complications.

A. M. Berral Santana; Madrid/ES - nothing to disclose T. Corbalán Sevilla; Madrid/ES - nothing to disclose J. M. Sánchez Reyes; Madrid/ES - nothing to disclose L. Landa Marin; Madrid/ES - nothing to disclose E. Escudero Romo; Madrid/ES - nothing to disclose

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