Thyrocerebroretinal Syndrome

Cutler et al. (1978) described brother and sister with renal, neurologic, and thyroid disease. Both had thrombocytopenia. Mentality was normal. The girl presented at age 1 year with chronic renal disease. She died at age 10. The brother presented at age 3 with renal disease. At 13 years of age, he became increasingly atoxic. Simple colloid goiter was present in both.