A 2-year-old boy developed microscopic hematuria. Results of physical examination were normal; neither arterial hypertension nor renal insufficiency was present (serum creatinine=40 μmol/L). Because of persistent proteinuria, a renal biopsy was performed at age 3 years (Fig 1). Bilateral posterior cataracts were diagnosed at age 4 years. Because of dysphagia and recurrent episodes of pulmonary infections, a chest roentgenogram was obtained and showed enlargement of the mediastinum (Fig 2); thickening of the esophageal wall was confirmed by ultrasonography (Fig 3) and computed tomography. Esophagectomy and colon plasty were required when digestive and respiratory symptoms became severe. Several smooth-muscle tumors involved the entire esophagus (Fig 4).
The child's mother also had microhematuria. She had a history of severe chronic vomiting and dysphagia requiring esophageal surgery at age 20 years. Seven years later, because of persistent digestive symptoms, a second roentgenogram of the esophagus was obtained after ingestion of barium and showed
Cochat P, Guyot C, Antignac C, Pracros J, Bouvier R, Chappuis J, Gilbert-Barness E. Pathological Cases of the Month. Am J Dis Child. 1993;147(7):791-792. doi:10.1001/archpedi.1993.02160310093027