Unilateral congenital lymphedema with intestinal lymphangiectasia, elevated liver transaminases, and hypopigmentation

Abstract

Congenital lymphedema occurs with intestinal lymangiectasia in several syndromes, including those described by Turner, Noonan, and Hennekam. We report a 16 year-old Filipino female with an unusual presentation of congenital lymphedema. She has had persistent right facial puffiness since birth. She later developed hypopigmented patches and increased circumference of her right extremities. Liver transaminases became persistently elevated at age 15 years. Laboratory evaluation for infectious and other causes of her hepatitis was negative. Past medical history was otherwise unremarkable. Family history was significant for a maternal aunt with hypopigmented patches and several relatives with premature graying. No relatives had lymphedema, autoimmune disorders, or liver disease. Physical examination revealed right facial fullness and scattered coarse, white scalp hairs but no dysmorphic features. Pretibial pitting edema was present on the right, with mild pitting and ridging of the nails. Right upper and lower extremity circumferences were increased compared to the left, with no limb length discrepancy. Multiple ½ to 1-cm areas of hypopigmentation were noted on the extremities. Radiographs of the extremities showed increased reticulation in the subcutaneous fat on the right. Magnetic resonance imaging revealed right-sided asymmetry of subcutaneous fat. Liver biopsy demonstrated chronic, nonspecific inflammation. Duodenal biopsy showed lamina propria lymphangiectasia. This patient's condition seemed unique in that she had lymphedema of her entire right side, with the left side clinically and radiographically spared. We postulate that a developmental field defect of the embryonic mesenteric lymph sac and the right thoracic duct and lymph sacs accounts for both her unilateral congenital lymphedema and her intestinal lymphangiectasia. The constellation of findings in this patient, lymphedema, intestinal lymphangiectasia, elevated liver transaminases, patchy hypopigmentation, and coarse, white scalp hairs, has not been described in the English-language literature and may represent a new syndrome.