Alazami syndrome in a Saudi girl: a case report

Abstract

The assembly of profound global developmental and intellectual delay, short stature and severe growth restriction, certain characteristic dysmorphic facial features, with the occasional inclusion of behavioral abnormalities, sensory disturbances, as well as some vague bony involvement that can be rather inconsistent, all constitute an extraordinarily uncommon clinical entity coined as “Alazami Syndrome”, the diagnosis of which can be further established by genetic studies confirming the autosomal recessive biallelic frameshift mutations in the LARP7 gene, culminating in a complex and novel form of primordial dwarfism (PD). Herein, we report a patient presenting with this disease, comorbid with pathogenetic variants in SEPSECS mRNA as well, which cause an amalgamation of central nervous system anomalies that include microcephaly, atrophy, mental retardation, and epilepsy, termed as “Pontocerebellar hypoplasia”, accentuating the rarity of our case, as no such variants of these ailments have been formerly defined in preexisting literature. Genetic sequencing of our patient provides further affirmation of the culpability of the pathogenetic variants for each respective condition, and which suggests a potential connection between Alazami syndrome and other genetic malformation disorders. Keywords: Alazami, syndrome, Saudi, girl, case, report