Pittella J E, Nogueira A M
Department of Pathology, Federal University of Minas Gerais Medical School, Brazil.
Clin Neuropathol. 1990 Jan-Feb;9(1):33-8.
A case of pontoneocerebellar hypoplasia (PNCH) in a 9-day-old child--the youngest in the literature--is described. Right after birth the child showed serious respiratory insufficiency and developed frequent episodes of apnea and cardiorespiratory arrests, dying on the 9th day. Postmortem examination showed significant alterations only in the brain. There was intense neuron reduction in the pontine, arcuate, inferior olivary and dentate nuclei, reduction of Purkinje cells and of the granular layer of the cerebellum and the disappearance of the pontocerebellar fibers, together with dense fibrillary astrocytosis, which seems to have first appeared in the pontine nuclei. This case is compared with others in the literature and attention is drawn to the more intense, and probably initial, involvement of the pontine nuclei. The time of appearance of pontoneocerebellar hypoplasia is commented upon, based on data concerning the ontogenesis of the structure and on the presence or absence of gliosis in the pontine nuclei and persistence of the fetal pattern in the inferior olivary and dentate nuclei. It is suggested that the process may start in the 2nd or 3rd month of fetal life, or even later, as probably occurred in the present case, during the second or third trimester of intrauterine life.
本文描述了一例9天大婴儿的桥脑小脑发育不全（PNCH）病例——这是文献报道中最年幼的病例。出生后不久，该婴儿即出现严重呼吸功能不全，并频繁发生呼吸暂停和心肺骤停，于第9天死亡。尸检显示仅脑部有明显改变。桥脑、弓状核、下橄榄核和齿状核神经元大量减少，小脑浦肯野细胞和颗粒层减少，桥小脑纤维消失，同时伴有密集的纤维性星形细胞增生，且似乎首先出现在桥脑核。将该病例与文献中的其他病例进行了比较，并指出桥脑核受累更为严重，且可能是首发部位。基于该结构的个体发生数据、桥脑核中胶质增生的有无以及下橄榄核和齿状核中胎儿模式的持续存在，对桥脑小脑发育不全出现的时间进行了讨论。有人认为该过程可能始于胎儿期第2或3个月，甚至更晚，就像本例可能发生在子宫内生活的第二或第三个月。
