Hypomyelination, hypogonadotropic hypogonadism, hypodontia – First Polish patient

Abstract 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 MRI and dentition history are crucial for the diagnosis. We present the first Pol...

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Veröffentlicht in:	Brain & development (Tokyo. 1979) 2010-08, Vol.32 (7), p.574-578
Hauptverfasser:	Bekiesinska-Figatowska, Monika, Mierzewska, Hanna, Kuczynska-Zardzewialy, Arleta, Szczepanik, Elzbieta, Obersztyn, Ewa
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Anodontia Ataxia Brain magnetic resonance imaging (MRI) Diagnosis, Differential Female Humans Hypodontia Hypogonadism Hypogonadotropic hypogonadism Hypomyelination Magnetic Resonance Imaging Myelin Sheath - pathology Neurology Pituitary Gland - physiopathology Poland Syndrome
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Beschreibung
Zusammenfassung:	Abstract 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 MRI and dentition history are crucial for the diagnosis. We present the first Polish patient with this disease with repeated brain MRI, MRI of the pituitary gland and orthopantomogram.
ISSN:	0387-7604 1872-7131
DOI:	10.1016/j.braindev.2009.07.008