Brainstem disconnection: two additional patients and expansion of the phenotype
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Brainstem disconnection: two additional patients and expansion of the phenotype. / Poretti, Andrea; Denecke, Jonas; Miller, Douglas C; Schiffmann, Holger; Buhk, Jan Hendrik; Grange, Dorothy K; Doherty, Dan; Boltshauser, Eugen.
In: NEUROPEDIATRICS, Vol. 46, No. 2, 04.2015, p. 139-44.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Brainstem disconnection: two additional patients and expansion of the phenotype
AU - Poretti, Andrea
AU - Denecke, Jonas
AU - Miller, Douglas C
AU - Schiffmann, Holger
AU - Buhk, Jan Hendrik
AU - Grange, Dorothy K
AU - Doherty, Dan
AU - Boltshauser, Eugen
N1 - Georg Thieme Verlag KG Stuttgart · New York.
PY - 2015/4
Y1 - 2015/4
N2 - Brainstem disconnection (BD) is a rare posterior fossa abnormality defined by the nearly complete absence of a brainstem segment with the rostral and caudal brainstem portions connected only by a thin cord of tissue. The outcome is poor and the majority of children die within the first 2 months of life without achieving developmental milestones. We report on the cases of two children with BD and a prolonged spontaneous survival. Neither patient required intubation or mechanical ventilation and each survived longer than 2 months (one child died at the age of 8 months, the other is alive at the age of 4.5 years). In addition, patient 1 is the only child with BD reported so far who achieved some developmental milestones. Although the long-term neurodevelopmental outcome of BD remains unfavorable, the expansion of the phenotypic spectrum may be important in terms of counseling.
AB - Brainstem disconnection (BD) is a rare posterior fossa abnormality defined by the nearly complete absence of a brainstem segment with the rostral and caudal brainstem portions connected only by a thin cord of tissue. The outcome is poor and the majority of children die within the first 2 months of life without achieving developmental milestones. We report on the cases of two children with BD and a prolonged spontaneous survival. Neither patient required intubation or mechanical ventilation and each survived longer than 2 months (one child died at the age of 8 months, the other is alive at the age of 4.5 years). In addition, patient 1 is the only child with BD reported so far who achieved some developmental milestones. Although the long-term neurodevelopmental outcome of BD remains unfavorable, the expansion of the phenotypic spectrum may be important in terms of counseling.
U2 - 10.1055/s-0034-1544127
DO - 10.1055/s-0034-1544127
M3 - SCORING: Journal article
C2 - 25671339
VL - 46
SP - 139
EP - 144
JO - NEUROPEDIATRICS
JF - NEUROPEDIATRICS
SN - 0174-304X
IS - 2
ER -