Sudden death in a patient with mosaic ring X Turner syndrome and a neuronal migration disorder.

摘要

The proband, a female infant, was born at term by elective caesarean section; birth weight was 2.7 kg. No resuscitation was required. She had a prominent metopic suture, long downslanting palpebral fissures, low-set posteriorly rotated ears, a short broad neck, single palmar creases and partial left 4/5 toe syndactyly (Fig. 1). From the age of 3 weeks, she had quiet episodes of unknown origin. She remained responsive, without abnormal movements or eye flickering, during these episodes. Development was mildly delayed, she functioned at 7.5-month level at age 10.5 months. At 11 months of age, she died suddenly during an episode that was witnessed by her parents: she became quiet, her eyes deviated upwards, her back arched, she became rigid and stopped breathing. She could not be resuscitated.