Hypoplasia of the Abdominal Aorta and Hypomelanosis of Ito
“Pseudo–Cauda Equina” Imaging
A 4-year-old girl with hypomelanosis of Ito (HI) was referred to the cardiologist for an absence of pulses in the lower extremities. Medical history included hydrocephalus treated with ventriculoperitoneal shunt and congenital glaucoma. She always remained asymptomatic. Physical examination showed upper-body hypertrophy and a repeatedly measured systolic pressure difference between the upper and lower extremities of 35 mm Hg. Contrast-enhanced multidetector computed tomography (Figure 1) showed aortic hypoplasia immediately distal to the origin of renal arteries. Three-dimensional reconstruction obtained from contrast-enhanced multidetector computed tomography (Figure 2) revealed an abrupt diameter reduction in the aorta below the renal arteries. The aorta was divided into very small vessels to supply the lower extremities, mimicking a “pseudo–cauda equina.” Despite these findings, patient has remained asymptomatic during follow-up, without hypertension and with good exercise tolerance.
HI is a multisystemic neurocutaneous disease associated with genetic disorders such as mosaicism or translocations.1 Patients with HI have the hallmark features of hypopigmentation, neurological disorders, musculoskeletal disturbances, and ocular alterations. The importance of HI usually derives from its relationship with epilepsy and mental retardation. Cardiovascular manifestations of HI are extremely rare and are mostly associated with atrial or ventricular septal defects.2 To the best of our knowledge, this is the first report of an aortic malformation associated with HI.