Necrotizing Enterocolitis in a Premature infant as the Presenting Symptom of Familial Dysautonomia in the Neonatal Period: Case Report and Review of the Literature

Abstract

We present a case of a premature infant with early-onset necrotizing enterocolitis as the presenting symptom of familial dysautonomia. The diagnosis of familial dysautonomia in the neonatal period is usually rare and difficult, because many of the symptoms may be mild or nonspecific, whereas other characteristic signs and symptoms appear only later in life. The neonatologist should be aware of this rare diagnosis in the neonatal period, especially in the offspring of Ashkenazi Jews. The diagnosis is genetic. Preconception counseling to future parents belonging to populations at risk should include recommendation for genetic screening test to identify carriers of the mutations in the familial dysautonomia gene.

Current treatments in familial dysautonomia

“…48 As in the general population, the incidence of necrotizing enterocolitis in FD patients is more common in low birth weight, premature babies. 49 Two cases of intestinal ischemic necrosis in older FD children have been reported.…”

“…Its causes in FD are unknown. 48, 52 Management requires intensive supportive care with the administration of intravenous fluids and pressor agents. Anti-cytokine agents and corticosteroids may be used to suppress inflammation.…”

Berberine ameliorates neonatal necrotizing enterocolitis by activating the phosphoinositide 3-kinase/protein kinase B signaling pathway

“…NEC most frequently occurs in premature and sick infants, with an incidence of 1.5-7.2%, and its development is influenced by many different factors (1). It has been demonstrated that ischemic hypoxia leads to localized necrosis or necrosis of the entire intestine and colon (2).…”