A MATERNALLY TRANSMITTED LETHAL NEONATAL PROGEROID SYNDROME WITH PROMINENT GENITOURINARY AND GASTROINTESTINAL FEATURES

Twin brothers and their maternal uncle with a previously undescribed n eonatal progeroid syndrome are presented. In addition to progeroid fea tures, they had pseudo-obstruction of the urinary and gastrointestinal tracts, severe leucocytosis, liver dysfunction, and low complex III a nd IV in muscle but not in liver. Previously described neonatal proger oid syndromes and syndromes featuring pseudoobstruction are discussed. The two most likely aetiological mechanisms are an X linked single ge ne disorder or a mitochondrial disorder. The evidence for these possib ilities is presented.