Hypomyelination, hypogonadotropic hypogonadism, hypodontia - First Polish patient.
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.
Bekiesinska-Figatowska
Monika
M
Department of Diagnostic Imaging, Institute of Mother and Child, Warsaw, Poland. m.figatowska@mp.pl
Mierzewska
Hanna
H
Kuczynska-Zardzewialy
Arleta
A
Szczepanik
Elzbieta
E
Obersztyn
Ewa
E
D000328:Adult; D000848:Anodontia; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007006:Hypogonadism; D008279:Magnetic Resonance Imaging; D009186:Myelin Sheath / Q000473:pathology*; D010902:Pituitary Gland / Q000503:physiopathology*; D011044:Poland; D013577:Syndrome