MIDLINE CEREBRAL DYSGENESIS, DYSFUNCTION OF THE HYPOTHALAMIC-PITUITARY AXIS, AND FETAL ALCOHOL EFFECTS
MIDLINE CEREBRAL DYSGENESIS, DYSFUNCTION OF THE HYPOTHALAMIC-PITUITARY AXIS, AND FETAL ALCOHOL EFFECTS
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DOI：
10.1001/archneur.1993.00540070083022
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发表时间：
1993-07-01
影响因子：
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通讯作者：
BRUMBACK, RA
中科院分区：
文献类型：
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作者：
COULTER, CL;LEECH, RW;BRUMBACK, RA
目的：-对一名胎儿酒精影响的婴儿进行神经病理学评估。设计-经苏木精-伊红、银染和免疫细胞化学染色的下丘脑和垂体激素免疫细胞化学染色的冠状脑切片和代表性组织块，评估神经病理异常。患者-一名2.5个月大的美国印第安人女孩，曾暴露于妊娠早期的母亲酗酒，死于持续的问题，包括生长障碍、钠失衡、异常的体温调节、呼吸窘迫和癫痫。结果-尸检发现严重的小头畸形、发育症、面中部发育不良、高弓的腭裂、缩短的脑裂和小的脑裂。额叶向前融合，嗅球和嗅束缺失，视神经发育不良。扩大的球状下丘脑遮挡了脑下垂体。丘脑和尾状核在中线融合。在后方，单个脑室裂开形成发育的侧角。无法辨认出胼胝体前部、透明隔、海马伞和穹隆。显微镜下可见前连合和视上核。浦肯野细胞多呈水平排列，树突结构异常。垂体后叶缺失，漏斗两侧是发育不良的腺垂体和大的蛛网膜下腔异位。免疫细胞化学研究仅在下丘脑中发现了加压素和神经生理素，在垂体腺中只发现了生长激素和催乳素。结论-据我们所知，胎儿酒精效应与具有不完全前脑发育不全和隔视发育不良特征的复杂脑畸形之间的联系以前没有报道，这表明可能的共同发病机制需要进一步研究。
Objective.-Neuropathologic evaluation was performed on an infant with fetal alcohol effects.Design.-Coronal brain sections and representative tissue blocks stained with hematoxylin-eosin, silver stain, and immunocytochemical stains for hypothalamic and pituitary hormones were evaluated for neuropathologic abnormalities.Patient.-A 2.5-month-old American Indian girl who had been exposed to first-trimester maternal binge alcohol abuse died after persistent problems of growth failure, sodium imbalance, aberrant temperature regulation, respiratory distress, and seizures.Results.-Autopsy revealed severe microcephaly, hypertelorism, midfacial hypoplasia, a high-arched palate, shortened palpebral fissures, and a small brain. The frontal lobes were fused anteriorly; olfactory bulbs and tracts were absent; and optic nerves were hypoplastic. An enlarged and bulbous hypothalamus obscured the pituitary gland. The thalamus and caudate nuclei were fused across the midline. Posteriorly, the single ventricle split to form rudimentary lateral horns. The anterior corpus callosum, septum pellucidum, fimbria, and fornices could not be identified. The anterior commissure and supraoptic nuclei were microscopically present. Many Purkinje cells were horizontally positioned, with abnormal dendritic structure. The posterior pituitary lobe was absent, and the infundibulum was flanked by a hypoplastic adenohypophysis and a large subarachnoid heterotopia. Immunocytochemical studies identified only vasopressin and neurophysin in the hypothalamus and only growth hormone and prolactin in the pituitary gland.Conclusion.-To our knowledge, an association between fetal alcohol effects and a complex cerebral anomaly with features of incomplete holoprosencephaly and septo-optic dysplasia has not previously been reported and suggests a possible common pathogenesis needing further study.