Abstract：
AIM:To report one patient with slowly progressive encephalopathy, ataxia, central hypomyelination, hypodontia and hypogonadotropic hypogonadism, the 4H syndrome. This clinical picture has been described recently and there are only four patients reported previously. CASE REPORT:A girl with a previously normal early psychomotor development, presented a slowly progressive deterioration since 15 months of age. Now, she is 14 years old, and has a severe cerebellar ataxia, with tremor and dysmetria. She can't neither walk nor remain standing alone. She has lost the sphincter control and has an immature expressive language. She has no puberal development and definitive hypodontia of upper central incisors. The brain magnetic resonance imaging shows a diffuse hypomyelination, that is confirmed with diffusion and spectroscopy studies. CONCLUSION:The hypomyelinating leukoencephalopathies are disorders with abnormally low amount of myelin. The diagnosis is difficult in most of the patients. The hypomyelinating leukoencephalopathies include classic disorders and new leukoencephalopathies, described in the past few years.
journal_name
Rev Neuroljournal_title
Revista de neurologiaauthors
Vázquez-López M,Ruiz-Martín Y,de Castro-Castro P,Garzo-Fernández C,Martín-del Valle F,Márquez-de la Plata Lsubject
Has Abstractpub_date
2008-08-16 00:00:00pages
204-8issue
4eissn
0210-0010issn
1576-6578pii
rn2008163journal_volume
47pub_type
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