Downloads: 1 | Views: 69 | Weekly Hits: ⮙1 | Monthly Hits: ⮙1

Photo Essay | Radiology and Medical Imaging Sciences | India | Volume 12 Issue 4, April 2023

A Case of Phacomatosis with Rare Congenital Developmental Malformation of Eye

Tanvi Shinde | Sumant Mane | Anuja Vibhute

Abstract: Phakomatoses or neurocutaneous disorders primarily affect the central nervous system; however, skin, viscera, and other connective tissues can also be involved with variable clinical presentation. Imaging plays an important role in diagnosis and classification by early identification of pathognomonic findings in various types of phacomatoses. We present a case of a 1.5 year old male child with complains of blindness since birth. Skin spots and right leg deformity were observed by parents few months after birth. On clinical evaluation and radiological investigations using multimodality approach, diagnosis of phakomatoses i. e Neurofibromatosis type I was established. Atypical Ocular manifestation in the form of persistent hyperplastic primary vitreous with associated vitreous haemorrhage was observed in our case.

Keywords: Phakomatoses, Neurofibromatosis, B scan, MRI, PHPV

Edition: Volume 12 Issue 4, April 2023,

Pages: 422 - 425