Hypomyelination, hypogonadotropic hypogonadism, hypodontia - First Polish patient

被引：19

作者：

Bekiesinska-Figatowska, Monika ^{[1
]}

Mierzewska, Hanna ^{[2
]}

Kuczynska-Zardzewialy, Arleta ^{[3
]}

Szczepanik, Elzbieta ^{[2
]}

Obersztyn, Ewa ^{[4
]}

机构：

[1] Inst Mother & Child Hlth, Dept Diagnost Imaging, PL-01211 Warsaw, Poland

[2] Inst Mother & Child Hlth, Dept Neurol, PL-01211 Warsaw, Poland

[3] Wolski Hosp, Dept Neurol, Warsaw, Poland

[4] Inst Mother & Child Hlth, Dept Med Genet, PL-01211 Warsaw, Poland

来源：

BRAIN & DEVELOPMENT | 2010年 / 32卷 / 07期

关键词：

Hypomyelination; Hypogonadotropic hypogonadism; Hypodontia; Brain magnetic resonance imaging (MRI); Ataxia; BASAL GANGLIA; ATROPHY; ATAXIA; BRAIN;

D O I：

10.1016/j.braindev.2009.07.008

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The term 4H was suggested for the rare, novel entity with hypomyelination, hypogonadotropic hypogonadism and hypodontia. A combination of clinical findings with ataxia and endocrinological abnormalities, brain M RI and dentition history are crucial for the diagnosis. We present the first Polish patient with this disease with repeated brain M RI, M R I of the pituitary gland and orthopantomogram. (C) 2009 Elsevier B.V. All rights reserved.

引用

页码：574 / 578

页数：5

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