Congenital Dysplastic Microcephaly and Hypoplasia of the Brainstem and Cerebellum With Diffuse Intracranial Calcification
Congenital Dysplastic Microcephaly and Hypoplasia of the Brainstem and Cerebellum With Diffuse Intracranial Calcification
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DOI：
10.1177/0883073811416239
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发表时间：
2012-02
影响因子：
1.9
通讯作者：
Kazuyuki Nakamura;Mitsuhiro Kato;Ayako Sasaki;Masayo Kanai;K. Hayasaka
中科院分区：
文献类型：
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作者：
Kazuyuki Nakamura;Mitsuhiro Kato;Ayako Sasaki;Masayo Kanai;K. Hayasaka
先天性小头畸形伴颅内钙化是一种罕见的异质性疾病。在此，我们报告一例患有严重先天性小头畸形和弥漫性钙化的 1 岁男孩的病例。神经影像学研究显示弥漫性简化脑回模式；皮质非常薄；心室扩张；非常小的基底神经节、丘脑和脑干；和小脑发育不全伴弥漫性钙化。未发现新生儿黄疸、肝肿大、血小板减少等宫内感染的临床特征。血清学检测、培养和聚合酶链反应分析均未发现病毒感染。假弓形体病、风疹、巨细胞病毒和单纯疱疹综合征的病因仍不清楚。这项研究描述了迄今为止报道的最严重的假弓形体病、风疹、巨细胞病毒和单纯疱疹综合征，患者表现出小头畸形和钙化或带状颅内钙化，伴有简化的回旋和多纤维回旋。
Congenital microcephaly with intracranial calcification is a rare condition presented in heterogeneous diseases. Here, we report the case of a 1-year-old boy with severe congenital microcephaly and diffuse calcification. Neuroimaging studies showed a diffuse simplified gyral pattern; a very thin cortex; ventricular dilatation; very small basal ganglia, thalamus, and brainstem; and cerebellar hypoplasia with diffuse calcification. Clinical features of intrauterine infections, such as neonatal jaundice, hepatomegaly, and thrombocytopenia, were not found. Serological tests, cultures, and polymerase chain reaction analysis were negative for viral infections. The etiology of pseudo–toxoplasmosis, rubella, cytomegalovirus, and herpes simplex syndrome is still unknown. This study describes the most severe form of pseudo–toxoplasmosis, rubella, cytomegalovirus, and herpes simplex syndrome reported to date, with the patient showing microcephaly and calcification or band-like intracranial calcification with simplified gyration and polymirogyria.