Radiologic findings in cutis laxa syndrome and unusual association with hypertrophic pyloric stenosis

Abstract

Cutis laxa (CL) is a rare congenital and acquired disorder characterized by loose and redundant skin with reduced elasticity. Three types of congenital cutis laxa have been recognized. Other findings are pulmonary emphysema, bronchiectasia, hernia and diverticulosis. We describe a female neonate involved by cutis laxa syndrome and a positive family history. We focus on the radiologic findings of this case such as multiple bladder diverticulosis, GI diverticulosis and very rare accompanying hypertrophic pyloric stenosis (HPS).

Keywords: Cutis Laxa; Diverticulum; Pyloric Stenosis.

Figure 1. Photograph of the neonate demonstrates laxity of the skin and palpebral edema.

Figure 2. Bladder shows multiple muraldiverticuli with varied sizes dominantly in the posterior wall.

Figure 3. Close up of Figure 2. The bladder is marked with an open arrowhead. The largest left diverticulum with a left sided position is marked with an open arrow.

Figure 4. Voiding cystoureterogram shows multiple diverticuli with varied sizes. Arrowhead shows the bladder, the short arrow shows a diverticulum. The long arrow shows the largest diverticulum on the left side.

Figure 5. The classic findings of HPS demonstrated by ultrasound as abnormal muscle thickness and an elongated pyloric channel (cervix sign).

Figure 6. Esophagogram shows two dorsally-located divertcula in the cervical and lower thoracic esophagus.

Figure 7. Upper GI series shows diverticulum in the distal third of the esophagus as the epiphrenic type (short arrow). Radiologic signs of HPS also noted as elongation of the pylorus and an umbrella sign upon the duodenal cap (long arrow).