Congenital nystagmus and central hypothyroidism
نویسندگان
چکیده
منابع مشابه
Congenital nystagmus and central hypothyroidism
We observed a male newborn with bilateral nystagmus and central hypothyroidism without hypoprolactinemia due to a deletion of chromosome band Xq26.1q26.2, containing FRMD7 and IGSF1. These two loss-of function mutations are known to cause, respectively, congenital nystagmus and the ensemble of central hypothyroidism, hypoprolactinemia and testicular enlargement. These latter two features may no...
متن کاملRecent advances in central congenital hypothyroidism
Central congenital hypothyroidism (CCH) may occur in isolation, or more frequently in combination with additional pituitary hormone deficits with or without associated extrapituitary abnormalities. Although uncommon, it may be more prevalent than previously thought, affecting up to 1:16 000 neonates in the Netherlands. Since TSH is not elevated, CCH will evade diagnosis in primary, TSH-based, C...
متن کاملCongenital nystagmus
Key-words Disease name Definition/Diagnosis criteria Differential diagnosis Pathophysiology Clinical description Paraclinic testing and diagnosis Frequency Treatment Reference
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Congenital central hypothyroidism (C-CH) is a rare disease in which thyroid hormone deficiency is caused by insufficient thyrotropin (TSH) stimulation of a normally-located thyroid gland. Most patients with C-CH have low free thyroxine levels and inappropriately low or normal TSH levels, although a few have slightly elevated TSH levels. Autosomal recessive TSH deficiency and thyrotropin-releasi...
متن کاملStudy of congenital nystagmus: optokinetic nystagmus.
A severe defect of optokinetic nystagmus (OKN) was found in 46 patients with congenital nystagmus. Abnormal patterns of OKN, such as superimposition of pendular oscillations on the optokinetic slow component and inversion of OKN, were observed. Optokinetic gain (eye movement velocity/drum velocity) was decreased compared to that in normal subjects, and optokinetic after-nystagmus, or transient ...
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ژورنال
عنوان ژورنال: International Journal of Pediatric Endocrinology
سال: 2015
ISSN: 1687-9856
DOI: 10.1186/s13633-015-0003-5