Kaohsiung Armed Forces General Hospital

INTRODUCTION
Hirschsprung disease (HD) is a motor disorder of the gut, which is caused by the failure of neural crest cells (precursors of enteric ganglion cells) to migrate completely during intestinal development during fetal life. The resulting aganglionic segment of the colon fails to relax, causing a functional obstruction.

CLINICAL FEATURES

• Neonatal – The majority of patients with HD are diagnosed in the neonatal period. Patients present with symptoms of distal intestinal obstruction: bilious emesis, abdominal distension, and failure to pass meconium or stool
• Postnatal – Patients with less severe disease (usually because they have short-segment disease) may not be diagnosed until later in infancy or childhood; in approximately 10 percent of individuals, HD is diagnosed after three years of age.

DIAGNOSTIC TESTING
Suspected Hirschsprung disease in neonates
HD is suspected based on clinical features described above, usually supported by contrast enema or anorectal manometry.

RISK FACTORS
Rectal biopsy is the gold standard for diagnosis.

DIFFERENTIAL DIAGNOSIS

• Gastrointestinal malformations, including intestinal atresia, duplication cysts, or malrotation.
• Meconium ileus due to cystic fibrosis.
• Multiple endocrine neoplasia type 2 (MEN2).
• Disorders causing chronic intestinal pseudo-obstruction, including intestinal neuronal dysplasia.

TREATMENT

• Surgical correction
• Further evaluation for associated anomalies