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  • Title: Necrotizing enterocolitis in a premature infant as the presenting symptom of familial dysautonomia in the neonatal period: case report and review of the literature.
    Author: Barak S, Riskin A, Kugelman A, Abend-Weinger M, Chistyakov I, Bader D.
    Journal: Am J Perinatol; 2005 Oct; 22(7):353-5. PubMed ID: 16215920.
    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.
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