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Persistent Fetal Vasculature (PFV), also known as persistent hyperplastic primary vitreous (PHPV), is a rare developmental vitreoretinal disorder. Here we present a case study of congenital hydrocephalus associated with PFV and developmental delay. P preterm baby boy of 35 weeks gestation with a birth weight of 2.135 kg, delivered by emergency cesarean section due to fetal distress. The antenatal scan showed severe ventriculomegaly (43mm). He required brief Positive Pressure Ventilation by mask and bag then admitted to NICU. CT Brain revealed hydranencephaly and fundoscopy and B-Scan Ocular Ultrasound revealed hyperechoic mass inferotemporal indicating left retinoblastoma. However, CT ORBITS later on was done and it concluded that the findings indicate left side persistent hyperplastic primary vitreous (anterior and posterior form). No mass lesions or calcifications. WES study revealed Heterozygous variant c.1802G>T p. (Gly601val) in exon 26 of the COL4A1 gene (de novo mutation). The patient stayed in NICU for 65 days, remained hemodynamically stable in room air, with sunset eyes and wide anterior fontanelle, tolerated full oral feeding well, and was discharged home. While assessing a leukocoria or microphthalmia case, PFV must be considered a differential diagnosis. Differentiating PFV from retinoblastoma can sometimes be difficult for pediatricians and ophthalmologists to diagnose. PFV often involves just one eye, coexists with microphthalmos or cataracts, and does not include calcification. advanced imaging techniques such as CT scans are very useful in such cases. thorough examinations and investigations should be conducted by the ophthalmologist.
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