[MIM 300 855]

Prevalence < 1/106. X-linked transmission of a mutation of the NAA10 gene (Xq28) leading to a deficiency in N-terminal acetyltransferase.

Clinical presentation:

-        facial dysmorphism giving an aspect of early aging: wrinkled forehead, large ears, downsliding palpebral fissures, protruding upper lip, flared nares, microretrognathia, delayed closure of the fontanels (anterior and posterior); redundant skin with little subcutaneous fatty tissue, fine hair and sparse eyebrows

-        postnatal growth failure

-        neonatal hypotonia progressing to hypertonia and delayed severe psychomotor development (cerebral atrophy on MRI) often microcephaly

-        cryptorchidism

-        often a congenital heart disease (VSD, ASD, pulmonary artery stenosis) and arrhythmias: torsades de pointes,  long QT,  supraventricular tachycardia or ventricular extrasystoles

Generally, death (heart failure) before 2 years of age

Anesthetic implications:

ECG and echocardiography; risk of difficult endotracheal intubation

References:        

Updated: November 2017