Athabascan brainstem dysgenesis syndrome

Abstract

We report a new disorder with diverse neurological problems resulting from abnormal brainstem function. Consistent features of this disorder, which we propose should be called the Atabascan brainstem dysgenesis syndrome, include horizontal gaze palsy, sensorineural deafness, central hypoventilation, and developmental delay. Other features seen in some patients include swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, and cardiac outflow tract anomalies. All affected children described are of Athabascan Indian heritage, with eight children from the Navajo tribe and two patients who are of Apache background. The disorder can be distinguished from the Moebius syndrome by the pattern of central nervous system findings, especially the sensorineural deafness, horizontal gaze palsy, and central hypoventilation. Recognition of children with some features of Athabascan brainstem dysgenesis syndrome should prompt investigation for other related abnormalities. Published 2003 Wiley-Liss, Inc.

Bilateral Complete Labyrinthine Aplasia with Bilateral Internal Carotid Artery Aplasia, Developmental Delay, and Gaze Abnormalities: A Presumptive Case of a RareHOXA1Mutation Syndrome

“…Several recessive genetic disorders occur with increased frequency in Athabascan populations. 5,6 In 1996 and 1997, Friedman et al 4 presented 10 cases of ABDS, a congenital syndrome in Athabascan children featuring horizontal gaze abnormalities, deafness, developmental delay, and central hypoventilation. Variably present features included facial paresis, swallowing dysfunction, vocal cord paresis, seizures, and congenital cardiac anomalies.…”

“…To our knowledge, these 13 cases are the only previously published reports of ABDS. [3][4][5] On the basis of the number of cases identified and birth rates within studied populations, Erickson 6 and Holve et al This syndrome, BSAS, has been described in 16 children. As in ABDS, horizontal gaze abnormalities, deafness, and developmental delay were common findings.…”

“…No patient with BSAS was diagnosed with central hypoventilation, while reports of all 13 previously published cases of ABDS indicated that supplemental oxygen or mechanical ventilation was required. 3,5 In all patients, hypoventilation was more severe during sleep, and in the least affected children, …”

“…[3][4][5] We present a case of a 2-year-old Navajo girl with developmental delay, deafness, and horizontal gaze palsy, features of ABDS.…”

“…[1][2][3][4][5] Imaging of the temporal bone has not been previously described in ABDS but has been reported for most patients with BSAS. Inner ear malformations ranged from CLA to minor cochlear hypoplasia.…”