Identification of a homozygous deletion of the NEU1 gene in a patient with type II sialidosis presenting isolated fetal ascites and central nervous system hypoplasia.

Background: Mutation of the sialidase gene is the etiology of sialidosis, a storage disorder with a plethora of systemic manifestations ranging from ocular abnormalities, bone pathologies, and ataxia (sialidosis type I) to mental decline and infantile death (sialidosis type II). Non-immune hydrops fetalis and isolated ascites are the most severe forms of sialidosis type II that manifests itself prenatally.

Case Report: For the first time, we report congenital sialidosis with homozygous pathogenic deletion of the entire gene in a Greek neonate with hydrops fetalis, isolated ascites, central nervous system hypoplasia, and lethal progression.

Is brain death diagnosis in newborns feasible?

Brain death as the irreversible and permanent loss of cerebral and brainstem function, is relatively uncommon among newborns who need life support. It is considered the result of an acute and irreversible central nervous system insult. Asphyxia, severe intracranial hemorrhage and infection are the most common causes of brain death in children.