Eur J Pediatr (1990) 149: 623-627 EuropeanJournal of Pediatrics 9 Springer-Verlag 1990 Muscular hypertrophy of the oesophagus and "Alport-like" glomerular lesions in a boy E. Legius 1, W. Proesmans ~, B.Van Damme 2, K. Geboes 2, T. Lerut 3, and E. Eggermont 1 Departments of 1Paediatrics, 2Pathology, 3Surgery, University Hospital Gasthuisberg, Herestraat 49, B-3000 Leuven, Belgium Received June 19, 1989 ! Accepted November 24, 1989 Abstract. A patient with idiopathic muscular hypertrophy of the oesophagus, bilateral cataracts and an Alport-like nephropathy is described. Only 15 patients with a similar association have been described so far and autosomal dominant inheritance is most likely. Key words: Alport syndrome - Oesophageal muscular hypertrophy - Leiomyomatosis - Glomerulonephritis - Autosomal dominant inheritance Introduction Alport syndrome is a familiar disorder characterized by nerve deafness and nephritis. Electron microscopy re- veals thinning and splitting of the glomerular basement membrane and the disorder is mainly inherited as an X- linked semi-dominant trait [10]. Recently an autosomal dominant variant of Alport syndrome has been described [3, 8, 18]. Glomerular ab- normalities are similar but patients display oesophageal leiomyomatosis and sometimes deafness, cataracts and leiomyomatosis of other organs e.g. the female genital tract. mittent wheezing. Blood pressure was repeatedly normal. Labora- tory investigation showed peripheral blood eosinophilia (604/ram 3, n < 400/mm3), raised serum IgE (418 U/ml, n < 171 U/ml), perma- nent microscopic haematuria (500-1000 RBC/mm3), proteinuria (30 mg/kg per 24 h) and a creatinine clearance of 80 ml/min per 1.73 m 2. X-ray studies showed a long, thick oesophagus without peri- staltic movements and with a '~ curvature in its distal part. Thoracic computed tomography showed an enormous oesophageal muscular hypertrophy with displacement of the trachea and bronchi to the right (Fig. 1). This asymmetric extrinsic bronchial compres- sion was confirmed by bronchoscopy. The oesophagus was resected and replaced by a colon trans- plant, which was resected because of postoperative necrosis. Six months later the stomach was tubulated intrathoracically in the retrosternal compartment and anastomized with the cervical oe- sophagus. Postoperative evolution was uneventful. The patient is able to drink and eat normally. Pathological examination of the resected oesophagus (Fig. 2) showed an extreme diffuse thickening of the entire oesophageal wall (1 cm), mainly due to a thickening of the muscularis mucosae and the inner circular muscular coat. Both showed an extensive re- placement of the normal fibre pattern by irregular plexiform fibres. Discrete nodule formation was observed in some areas. The striated muscle cells from the upper part of the oesophagus showed a marked variation in size with some cells appearing atro- phic. Ganglion cells were present in both the submucosal and myenteric plexus. A marked transmural inflammation was ob- Case report The patient, a boy, was born as the second child of healthy, unre- lated parents (father 31 years and mother 30 years). At the age of 10 months he underwent surgery for bilateral postnatal cataracts. Since the age of 4 years he had swallowing difficulties accompanied by attacks of retrosternal pain. He was hospitalized twice because of aspiration pneumonia. Microscopic haematuria was detected at 5 years. Two years later the diagnosis of achalasia was made in another hospital and a Heller myotomy of the lower oesophageal sphincter was performed. However, the symptoms persisted and 7 months later he was admitted to our hospital because of regurgita- tion, dysphagia and recurrent episodes of food aspiration with choking, requiring cardiopulmonary resuscitation on two occa- sions. Pulmonary auscultation revealed bilateral rhonchi and inter- Offprint requests to: W. Proesmans Fig. 1. CT-scan of the thorax showing the enormous oesophageal muscular hypertrophy with compression and displacement of bronchi