EC Paediatrics

Variants in PLVAP gene caused to date a severe (lethal) syndrome characterized by severe protein-losing enteropathy (PLE) with congenital hypothyroidism additionally suffer the affected patients from dysmorphic features and congenital diarrhea, otherwise occur the clinical manifestations early in the neonatal period and infancy. Attenuated disease was also mentioned due to the variants in PLVAP characterized by mild PLE without any dysmorphic features, hypothyroidism, or other organ abnormalities.

To date, five cases of this syndrome have been described. Herein, we report a newborn who developed secretory diarrhea metabolic acidosis, anasarca, sepsis, respiratory and heart failure during the first week of age. Furthermore, the patient had congenital hypothyroidism and dysmorphic facial features. Whole-exome-sequencing (WES) revealed a non-described homozygous pathogenic out-of-frame-deletion c.670-676del in the PLVAP gene causing a premature stop codon p.(Leu224Cysfs*54).

In agreement with previously published reports our recommendation is to screen all infants with protein-losing enteropathy, congenital hypothyroidism and facial dysmorphism for PLVAP variants.

 Keywords: Protein-Losing Enteropathy (PLE); Whole-Exome-Sequencing (WES); Plasmalemma Vesicle-Associated Protein Gene PLVAP

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