# Bilateral Glaucoma as Possible Additional Feature for PGAP3-Associated Hyperphosphatasia

## TL;DR

A rare genetic disorder called HPMRS was identified in a child with glaucoma and other physical traits, suggesting it should be considered in similar cases.

## Contribution

This case report adds bilateral glaucoma as a possible feature of PGAP3-associated hyperphosphatasia.

## Key findings

- A seven-month-old boy with bilateral glaucoma and facial dysmorphism was found to have a PGAP3 variant.
- The case expands the known phenotypic features of HPMRS type-4 to include congenital glaucoma.
- The findings suggest HPMRS should be considered in differential diagnoses of syndromic glaucoma.

## 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.