BACKGROUND: Hirschsprung disease (HSCR) is a neurocristopathy characterized by 
the absence of parasympathetic intrinsic ganglion cells in the submucosal and 
myenteric plexuses along a variable portion of the intestinal tract. In 
approximately 18% of the cases HSCR also presents with multiple congenital 
anomalies including recognized syndromes.
METHODS: A combination of MLPA and microarray data analysis have been undertaken 
to refine a duplication at the Xq28 region.
RESULTS: In this study we present a new clinical association of severe neonatal 
encephalopathy (Lubs syndrome) and HSCR, in a male patient carrying a 
duplication at the Xq28 region which encompasses the MECP2 and L1CAM genes.
CONCLUSIONS: While the encephalopathy has been traditionally attributed to the 
MECP2 gene duplication in patients with Lubs syndrome, here we propose that the 
enteric phenotype in our patient might be due to the dosage variation of the 
L1CAM protein, together with additional molecular events not identified yet. 
This would be in agreement with the hypothesis previously forwarded that 
mutations in L1CAM may be involved in HSCR development in association with a 
predisposing genetic background.