PMC3031022_01
Diagnosis of Hirschsprung's disease. (A) Barium enema showing transitional zone (arrow) in the middle of the sigmoid colon. (B) Frozen section of the biopsy showing the absence of ganglion cells. (C) Enzyme histochemistry showing aberrant acetylcholine esterase.
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F1
A gastrografin contrast enema study showed multiple meconium plugs in the colon suggesting meconium plug syndrome (Fig. 1A). The diagnosis was confirmed by rectal suction biopsy with acetylcholinesterase immunohistochemistry (Fig. 1B, C).
The polyacrylamide gel electrophoresis of the PHOX2B gene SSCP profiles in Haddad syndrome and his family. A heterozygous mutation (232 bp and 250 bp) was found in the patient compared to the single strands in his family and normal samples (232 bp). SM, size marker; HS, Haddad syndrome; F, father; M, mother; N1, N2, and N3, normal controls.
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F2
Polymerase chain reaction-single strand conformational polymorphism (PCR-SSCP) was performed as previously described. PCR products in the patient, his parents, and normal controls were electrophoresed through 8 and 10% polyacryamide gels (Fig. 2).
DNA sequencing of heterozygous mutation of the PHOX2B gene showing expanded polyalanine 26 repeats. In the patient with Haddad syndrome, normal allele (A) had 20 repeats (red line) and the mutation allele (B) had +6 repeats (blue line) of the polyalanine sequence.
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F3
DNA. Direct sequencing revealed expanded alleles containing polyalanine 26 repeats in exon 3 of the PHOX2B gene, further supporting the diagnosis CCHS (Fig. 3).