Inherited antithrombin III deficiency in the neonate
J. Seguin, K. Weatherstone and C. Nankervis
Section of Neonatology, Children's Hospital, Columbus, Ohio.
OBJECTIVE: To describe two cases of inherited antithrombin III (AT-III)
deficiency presenting at less than or equal to 28 days of age, and to
review other neonatal reports. RESEARCH DESIGN: Clinical descriptions of
two patients and literature review of known references to the neonatal
presentation of this disorder. SETTING: Academic neonatal intensive care
unit. PATIENTS: Case reports--two patients with thrombosis and family
history of AT-III deficiency. Literature review--neonatal patients with
thrombosis and diagnosis of AT-III deficiency or parental diagnosis of
AT-III deficiency or diagnosis of AT-III deficiency alone. SELECTION
PROCEDURES: Random observation (case reports) and literature search for
cases of AT-III deficiency diagnosed in the neonatal period or presenting
with thrombosis and a positive family history of the disorder.
INTERVENTIONS: Fresh frozen plasma, heparin, and AT-III concentrate were
employed in the current case reports. The cases from the literature used
combinations of the above or no intervention. MEASUREMENTS/MAIN RESULTS:
Twenty-three cases, including the current reports, of suspected or proved
AT-III deficiency were found, with at least 11 cases of thrombosis and at
least 10 deaths. CONCLUSIONS: Significant morbidity and mortality from
inherited AT-III deficiency can occur in the neonatal period, and the
incidence of affected neonatal patients is probably underestimated. Careful
family history, early recognition, diagnosis, and specific treatment are
important for management of this disorder.
