Aplasia Cutis Congenita With Intestinal Lymphangiectasia

Bronspiegel et al. (1985) described an Ashkenazi Jewish boy who at birth had aplasia cutis congenita of the vertex and edema which persisted for 6 months. At 3 years of age he presented with generalized edema and was found to have hypoproteinemia and lymphopenia. Radioisotope studies and a small intestinal biopsy confirmed the diagnosis of intestinal lymphangiectasia. On a fat-free, medium-chain triglyceride-containing diet, clinical and laboratory findings returned to normal. A subsequently born brother had nonpitting limb edema and extensive ACC of the vertex with an underlying bony defect. He died in shock at 2 months of age, after sudden profuse bleeding from the sagittal sinus.