title: A Japanese patient of congenital hypothyroidism with cerebellar atrophy.
abstract: We encountered a Japanese patient of congenital hypothyroidism with severe cerebellum atrophy. The boy was born after 40 weeks of gestation by normal vaginal delivery from nonconsanguineous parents. There were no abnormal physical findings; however neonatal mass screening for congenital hypothyroidism at 5 days of age demonstrated elevated thyrotropin (TSH) level (15.5 microU/ml, normal range 0.54-10.0 microU/ml). He was suspected to have subclinical or mild congenital hypothyroidism (CH). Thus he was treated with L-thyroxine using a regimen that rendered his serum TSH concentration within normal range from 27 days of age. Despite early and adequate treatment, he showed signs of global developmental delay and became gradually hypotonic and exhibited a staggering gait at 3 years of age. Brain magnetic resonance imaging (MRI) demonstrated marked cerebellar atrophy with an intact brainstem. Thyroidal uptake of radioiodide and thyroid gland size were normal, indicating a functional defect only. The relation between congenital hypothyroidism and severe cerebellar atrophy in our patient is not clear. As only a few cases of the combination of CH and cerebellar anomalies have been described previously, cerebellar symptoms in CH should be examined carefully.
authors.affiliation: Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.
authors.forename: Toshihiro
authors.initials: T
authors.lastname: Tajima
authors.forename: Fumie
authors.initials: F
authors.lastname: Fujiwara
authors.forename: Akira
authors.initials: A
authors.lastname: Sudo
authors.forename: Shinji
authors.initials: S
authors.lastname: Saito
authors.forename: Kenji
authors.initials: K
authors.lastname: Fujieda
mesh_terms: D002524:Cerebellar Ataxia / Q000097:blood / Q000473:pathology*; D003409:Congenital Hypothyroidism / Q000097:blood / Q000188:drug therapy / Q000473:pathology*; D002658:Developmental Disabilities / Q000097:blood / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D013974:Thyroxine / Q000097:blood / Q000627:therapeutic use*; D014284:Triiodothyronine / Q000097:blood
chemical_list: D014284:Triiodothyronine; D013974:Thyroxine