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July 1993

Pathological Cases of the Month

Author Affiliations

From the Unité de Néphrologie Pédiatrique (Dr Cochat), Laboratoire Central d'Anatomie Pathologie (Dr Bouvier), and Service de Chirurgie Pédiatrique (Dr Chappuis), Hôpital E. Herriot, Service de Radiopédiatrie, Hôpital Debrousse (Dr Pracros), and Université Claude Bernard (Dr Cochat), Lyon, France; Service de Pédiatrie, Centre Hospitalier Régional, Nantes, France (Dr Guyot); Institut National Santé et Recherche Medicale U 192, Hôpital Necker-Enfants Malades, Paris, France (Dr Antignac).

Am J Dis Child. 1993;147(7):791-792. doi:10.1001/archpedi.1993.02160310093027

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