Bilateral Glaucoma as Possible Additional Feature for PGAP3-Associated Hyperphosphatasia

Abstract

Hyperphosphatasia with mental disorder (HPMRS) is a rare autosomal recessive disease caused by gene mutations in enzymes involved in the synthesis and remodeling of lipids. Seven-month-old boy diagnosed with bilateral glaucoma had a cleft palate, facial dysmorphism, hypertelorism, a broad nasal bridge, and large fleshy earlobes. A brain MRI scan also revealed brain abnormalities. The observed phenotype in a seven-month-old boy is in agreement with the phenotypic features of HPRMS type-4. Whole exome sequencing revealed a possible pathogenic variant of PGAP3 in a homozygous state (c.320C > T, p.Ser107Leu) which supported the diagnosis of HPRMS type-4. We report an unusual presentation for HPMRS and suggest adding this syndrome to the list of differential diagnoses of syndromic congenital glaucoma.

Figure 1

Brain MRI of a 10 months old boy in sagittal T1-WI (a) showing diffusely thin corpus callosum (yellow arrows), axial T2-WI (b) showing mildly dilated lateral ventricles (white horizontal arrows), and axial T1-WI (c) showing dilated subarachnoid spaces (white vertical arrows).