Sonographic findings of total colonic aganglionosis in a neonate with Haddad syndrome: A case report

Abstract

Haddad syndrome is a rare congenital disorder characterized by congenital central hypoventilation syndrome and Hirschsprung disease. Total colonic aganglionosis is a rare and long‐segment form of Hirschsprung disease, which is primarily diagnosed using contrast enemas. However, the diagnostic performance of contrast enemas is relatively low, making the diagnosis of total colonic aganglionosis challenging. In neonates, ultrasound may be used as an additional imaging modality for the diagnosis of Hirschsprung disease. We describe the unique sonographic findings of total colonic aganglionosis in a term neonate with failure to pass meconium and respiratory distress, who was subsequently diagnosed with Haddad syndrome.

Surgical Reconstruction Options for a Case of Near Total Intestinal Aganglionosis

“…HD presents as functional intestinal obstruction from the incomplete migration of neuroblasts from the neural crest and inadequate differentiation of neuroblasts to ganglion cells in the intestine [ 4 ]. TCA involving the small bowel (TCASB) occurs in 2%-5% of HD [ 8 , 9 ].…”

“…Definitive reconstruction should occur between six months and one year depending on the extent of the disease [ 13 ]. A colectomy with a straight ileoanal anastomosis and ileostomy can be performed at presentation if the surgeon preserves the dentate line with an intact anal canal [ 4 , 14 ]. Intestinal diversion, however, should be completed within one month after birth, irrespective of the involved segment or an attempt at definitive reconstruction [ 13 ].…”

“…It is a neurocristopathy with low penetrance and variable expression that determines the length of the aganglionic segment. HD can present in genetic syndromes like Down's syndrome, congenital hypoventilation syndrome, and Haddad syndrome and gene mutations such as those to the arranged during transfection (RET) gene [2][3][4][5]. It occurs in approximately 1 in 5,000 live births with a male predominance (4:1) [3].…”

“…HD varies in length of bowel involvement. It involves clinical groups of ultra-short, short, and long-segment diseases [ 3 , 4 ]. Long-segment colonic, total colonic, and small bowel aganglionosis are variations of long-segment disease [ 3 , 6 , 7 ].…”

“…Long-segment colonic, total colonic, and small bowel aganglionosis are variations of long-segment disease [ 3 , 6 , 7 ]. Total colonic aganglionosis (TCA) occurs in approximately 3% to 15% of patients with HD [ 4 ]. TCA can present complications such as enterocolitis and intestinal failure associated with liver disease [ 6 , 7 ].…”