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Persistent Fetal Vasculature with Congenital Hydrocephalus: A Case Report
Abeer Saeed Hassan Osluf1*, Maged Shoukeer1, Naif Abdullah Almarzoog2
1Department of Radiology, Armed Forces Hospital, Khamis Mushait, Saudi Arabia. 2Department of Ophthalmolgy, Armed Forces Hospital, Khamis Mushait, Saudi Arabia.
Abstract
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.
Keywords: Persistent Fetal Vasculature (PFV), CT Brain, Management, Diagnosis
Persistent Fetal Vasculature (PFV) is an uncommon developmental vitreoretinal abnormality, formerly known as persistent hyperplastic primary vitreous (PHPV).[1, 2] It is characterized by a retrolental fibrovascular tumor brought on by problems with primary vitreous regression.[3, 4] In the first year of birth, it is the second most typical cause of acquired cataracts.[1, 5] About 90% to 95% of the time, it is unilateral and sporadic.[6, 7] It is frequently linked to other diseases including Norrie's disease, Warburg syndrome, Patau syndrome, or retinal dysplasia when bilateral.[8, 9]
Hydrocephalus is a central nervous system condition that is defined by an excessive accumulation of cerebrospinal fluid in the brain's ventricles.[10, 11] In underdeveloped nations, hydrocephalus has a considerable negative impact on health; in the US, it is thought to cost $2 billion yearly.[12, 13] Here we present a case of PFV associated with congenital hydrocephalus.[14, 15]
This is a preterm baby boy, 35 weeks gestation with a birth weight of 2.135 kg, delivered by emergency cesarean section due to fetal distress. The mother is 28 years old, G4 P2+1, the antenatal scan showed severe ventriculomegaly (43mm), a known case of hypothyroidism on oral thyroxine. Apgar Score: 6,7 & 8 at 1.5 & 10 minutes, respectively. He required brief Positive Pressure Ventilation by mask and bag then admitted to NICU.
On examination, the baby was macrocephalic, Head Circumference: 36 cm below 90th centile, wide fontanel and spaced sutures, sunken eyes and triangular face, alert, spontaneous eye opening, bilateral hazy cornea, with sluggish reactive pupils, marked head lag, hypotonic posture with weak DTR and Moro reflex.
Initially, the baby was in respiratory distress, required nasal CPAP then improved, and currently in room air, no
hepatosplenomegaly, skin rash, or skeletal abnormalities. The abdominal ultrasound was unremarkable. CBC and CRP were normal. LFTs revealed conjugated hyperbilirubinemia. Total bilirubin: 594 umol/L, Direct: 349 umol/L, AST: 136, ALT:84, GGT: 33, ALP: 170.
The ophthalmology assessment in the right eye described pupil dilated and fundal examinations showed a large preretinal vitreous hemorrhage and a pale disc. The left eye showed microphthalmia, cataract, and no fundus view.
CT Brain revealed hydranencephaly (Figure 1) and fundoscopy and B-Scan Ocular Ultrasound revealed hyperechoic mass inferotemporal indicating left retinoblastoma. However, a CT scan of the orbits later was done and it concluded that the findings indicate left side persistent hyperplastic primary vitreous (anterior and posterior form). No mass lesions or calcifications (Figure 2).
The patient was transferred to a higher center and he was stable generally but on oxygen and NGT feeding, looking at an assessment of the condition of the baby and advanced genetic evaluation. WES study revealed Heterozygous variant c.1802G>T p.(Gly601val) in exon 26 of the COL4A1 gene (de novo mutation).
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