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Abstract #117549 Published in IGR 24-4
Bilateral Glaucoma as Possible Additional Feature for -Associated Hyperphosphatasia
Obaid O; Batawi R; Alqurashi H; Ewis T; Obaid AACase reports in genetics 2024; 2024: 3561555
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 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.
Department of Pediatrics, Maternity and Children Hospital, Makkah, Saudi Arabia.
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