COFFIN-LOWRY SYNDROME AND HYPERPROLINEMIA

Background. The main features of the Coffin-Lowry syndrome are mental retardation and features of a peculiar pugilistic nose, large ears, ta pered fingers, drumstick terminal phalanges by X-rays and kyphoscolios is. Inheritance is probably X-linked dominant. Its early diagnosis is difficult. Case report. A 31 month-old boy was admitted for mental ret ardation. His weight and height were normal, but his facies showed tel ecanthus, anteverted nares and a prominent frontal region. His hands a ppeared puffy with bulbous tapering fingers. Amino-acid chromatography showed hyperprolinemia (732 mumol/l) plus iminoglycinuria. His mother had a short stature, mental retardation and similar, although minor, manifestations of the Coffin-Lowry syndrome in her face, hands and fin gers. She had moderate hyperprolinemia (391 mumol/l) without hyperglyc inuria. The patient's father showed no physical abnormalities, but he also had hyperprolinemia (671 mumol/l) and hyperglycinuria. Conclusion . The association of the Coffin-Lowry syndrome and hyperprolinemia in this family seems fortuitous.