Adult Case of Pontocerebellar Hypoplasia without the Claustrum.

IF 3.2 Q2 CLINICAL NEUROLOGY Neurology International Pub Date : 2024-10-07 DOI:10.3390/neurolint16050085
Koji Hayashi, Shiho Mitsuhashi, Ei Kawahara, Asuka Suzuki, Yuka Nakaya, Mamiko Sato, Yasutaka Kobayashi
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Abstract

We describe the case of a 63-year-old man with pontocerebellar hypoplasia without the claustrum (CL). The patient had a history of cerebral palsy, intelligent disability, cerebellar atrophy, and seizures since birth. At age 61, brain computed tomography (CT) revealed significant cerebellar and brainstem atrophy. At age 63, he was admitted to our hospital for aspiration pneumonia. Although he was treated with medications, including antibiotics, he died one month after admission. The autopsy revealed a total brain weight of 815 g, with the small-sized frontal lobe, cerebellum, and pons. The cross-section of the fourth ventricle had a slit-like appearance, rather than the typical diamond shape. In addition, bilateral CLs were not observed. Apart from CL, no other missing brain tissue or cells could be identified. Microscopic examinations disclosed neurofibrillary tangles in the hippocampus but not in the cortex; however, neither senile plaques nor Lewy bodies were detected. No acquired lesions, including cerebral infarction, hemorrhage, or necrosis, were noted. We pathologically diagnosed the patient with pontocerebellar hypoplasia without CL. As there have been no prior reports of pontocerebellar hypoplasia lacking CL in adults, this case may represent a new subtype. Congenital CL deficiency is likely associated with abnormalities in brain development. CL may play a role in seizure activity, and the loss of bilateral CLs does not necessarily result in immediate death. Further studies are needed to clarify the functions of CL.

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无胼胝体的桥小脑发育不全成人病例
我们描述了一例 63 岁男性无脑桥小脑发育不全(CL)患者的病例。患者自出生以来就有脑瘫、智能障碍、小脑萎缩和癫痫发作的病史。61 岁时,脑部计算机断层扫描(CT)显示小脑和脑干明显萎缩。63 岁时,他因吸入性肺炎入住本院。虽然他接受了包括抗生素在内的药物治疗,但还是在入院一个月后死亡。尸检显示他的大脑总重量为 815 克,额叶、小脑和脑桥较小。第四脑室的横截面呈狭缝状,而不是典型的菱形。此外,没有观察到双侧 CL。除CL外,无法找到其他缺失的脑组织或细胞。显微镜检查发现海马区有神经纤维缠结,但皮层没有;不过,既没有发现老年斑,也没有发现路易体。没有发现后天性病变,包括脑梗塞、出血或坏死。我们经病理诊断,患者患有小脑桥脑发育不全,但无CL。由于之前没有关于成人小脑桥小脑发育不全缺乏CL的报道,本病例可能代表了一种新的亚型。先天性 CL 缺乏症可能与大脑发育异常有关。CL可能在癫痫发作活动中发挥作用,双侧CL缺失不一定会导致患者立即死亡。要明确CL的功能,还需要进一步的研究。
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来源期刊
Neurology International
Neurology International CLINICAL NEUROLOGY-
CiteScore
3.70
自引率
3.30%
发文量
69
审稿时长
11 weeks
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