Diffuse esophageal leiomyomatosis with perirectal involvement mimicking Hirschsprung disease

Alport syndrome with diffuse leiomyomatosis

“…On barium swallow, a dilatation of the upper lumen and variable degrees of segmental stenosis at the lower end were found. This can erroneously be diagnosed as an achalasia as it was seen in other patients [Guillem et al, 2001]. Additionally, esophagoscopy can only show acute esophagitis and barett esophagus [Nahmad and Clatworthy, 1973;Leborgne et al, 1989;Compagnoni et al, 2000], again also documented in our patient.…”

“…Perianal or perirectal leiomyomas have been mentioned in two children with constipation as the most impairing symptom [Lerone et al, 1991;Federici et al, 1998]. Thus, the consistent constipation with encopresis in our case could possibly be caused by a perirectal muscular hypertrophy which might disrupt the myenteric rectal plexi and account for a loss of the rectoanal inhibitory reflex [Guillem et al, 2001].…”

“…AS in combination with DL (MIM 308940) is only seldom diagnosed in childhood. As a common molecular basis genetic analyses revealed large deletions covering the Nterminal regions of both the COL4A5 and the COL4A6 genes, which are localized in a head-to-head manner on the X-chromosome, Xq22 [Federici et al, 1998;Miner, 1999;Jais et al, 2000;Guillem et al, 2001]. This report adds a further case of a child with Alport syndrome with diffuse leiomyomatosis (AS-DL) and a characterized deletion of the terminal regions of COL4A5 and COL4A6.…”

“…Additionally, esophagoscopy can only show acute esophagitis and barett esophagus [Nahmad and Clatworthy, 1973;Leborgne et al, 1989;Compagnoni et al, 2000], again also documented in our patient. Muscular hypertrophy always affects the esophagus but may as well involve extraesophageal organs like the tracheobronchial [Leborgne et al, 1989;Antignac and Heidet, 1996] and female genital tracts [Compagnoni et al, 2000;Guillem et al, 2001]. Guthrie [1945] described a 9-year-old girl with involvement of the esophagus, pylorus, duodenum, and jejunum.…”

“…Fortunately, further diagnostic and stressing investigations could be avoided in the patient, as the molecular diagnosis of AS-DL shows a characteristic deletion encompassing the 5 0 -end of both COL4A5 and COL4A6 genes. It is important to note that the deletion of the two alternatively used first exons (1a, 1b) and the second exon of the COL4A6 gene and the 450 bp intergenic region with a putative common promoter [Zhou et al, 1993;Dahan et al, 1995;Heidet et al, 1995;Antignac and Heidet, 1996;Heidet et al, 1997Heidet et al, , 1998Van Loo et al, 1997;Segal et al, 1999;Jais et al, 2000;Guillem et al, 2001;Mothes et al, 2002] is always constitutive of this disease while the size of the deletion of the 5 0 -end of the COL4A5 gene varies. So far, DL has never been recognized in patients whose deletions in COL4A6 extends to exon 3 and beyond [Miner, 1999].…”