Renal Involvement in Linear Nevus Sebaceous Syndrome—An Unde
An Asian girl was delivered at 36 weeks of gestation with normal antenatal screening. Her family history was unremarkable. Newborn examination revealed multiple well-defined yellowish plaques over her body, involving her scalp, face, neck, right chest, and upper limb (Figure 1a). Ophthalmological examination showed chorioretinal coloboma in her right eye and a lipodermoid at her left upper eyelid. She was diagnosed with linear nevus sebaceous syndrome. An echocardiogram on day four of life showed aortic coarctation at the juxta-ductal region, with the narrowest point of 2 mm, and a 2.5 mm patent ductus arteriosus (PDA) with a bidirectional shunt. Surgical repair of the coarctation and division of the PDA were performed on day seven of life. She developed re-coarctation at the repair site and required balloon aortoplasty six weeks after the surgery. At two months old, she also had multiple episodes of focal seizures involving her left limbs. She was put on oral carbamazepine and has remained seizure-free since six years old. The magnetic resonance imaging (MRI) of her brain and spine showed the right frontotemporal lobe pachygyria and a lipomatous lesion at the thoracic spinal cord. A Doppler ultrasound revealed focal stenosis at the proximal and mid-portion of the left renal artery, with the raised peak systolic velocity reaching 300 cm/s. There were multiple cysts with no intra-cystic solid component in her right kidney. There were no cysts in the left kidney or liver. Tc99m-MAG3 (99m technetium mercaptoacetyltriglycine) scan showed impaired right renal function with a left-to-right ratio of 68%:32%.

Magnetic resonance angiogram revealed diffuse aortopathy involving the aortic arch (5 mm in diameter at isthmus), thoracic aorta (7 mm), and abdominal aorta (5 mm). The main branches from the aorta were also affected, including bilateral renal artery stenoses (RAS) and narrowed celiac trunk and superior mesenteric artery (2–3 mm in diameter). The Doppler ultrasound did not show focal stenosis in her common, internal, or external carotid arteries. The patient received oral amlodipine and atenolol to control her blood pressure. Interventional angioplasty over the renal arteries was not feasible due to the diffuse narrowing of the aorta, especially near the origins of the renal arteries. She remained asymptomatic, and her blood pressure was controlled at around the 95th percentile for her height.