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Introduction
Hirschsprung’s disease (aganglionic megacolon) is a rare congenital disorder characterized by the absence of ganglion cells in the Meissner’s plexus (submucosa) and in the Auerbach’s plexus (muscularis) of the terminal rectum, that extends in a variable distance proximally. Hirschsprung’s disease represents the main genetic cause of functional intestinal obstruction presenting especially in the neonatal period, with an incidence of 1:5000 births and a male-to-female predominance of 4:1(1). It is regarded as being a developmental disorder due to a malfunction in the neuronal migration between the 4th and the 12th week of gestation (neurocristopathy). It is associated, in some cases, with a mutation in the RET signaling pathway. Therefore, other genetic diseases can be found among these children, including trisomy 21 and neurocristopathies like Waardenburg syndrome.
The diagnosis of Hirschsprung’s disease is made in the neonatal period, due to intestinal obstruction, with the following clinical features: delayed passage of meconium (>24 hours after birth), abdominal distension, vomiting and neonatal enterocolitis. Some patients are diagnosed later in infancy or in adulthood with severe constipation, chronic abdominal distension, vomiting, and failure to thrive.
Case report
We report the case of a 9-month-old infant who was admitted to the “Victor Gomoiu” Clinical Hospital for Children, Bucharest, Romania, for severe abdominal distention and suggestive symptoms for chronic constipation (emission of hard dry stool with a frequency of less than two defecations per week, after the administration of honey-based micro-enema), associated with poor weight gain.
His medical history included neonatal early onset, with a delayed meconium passage. After birth, he had also presented two lower intestinal acute obstructions, the first one occurring at 3 days of life and the second one at 2 months of life, both of them being surgically treated. The affected segment had been resected and a subsequent ileostomy had been placed. The patient had no features of chromosomal abnormalities or suspicion of neurodevelopmental disorders. He had been genetically tested for cystic fibrosis and celiac disease in the territorial hospital.
The family medical history regarding gastrointestinal disorders was unremarkable.
The physical examination revealed relatively good general condition, underweight (weight: 7400 g, bellow the 3rd percentile; WHO 2000), without fever, pale teguments with postsurgical abdominal keloid scars, cardiorespiratory balanced, with a significant abdominal distention (abdominal perimeter: 60 cm), hard dry stool (occasionally bloody stool), capricious appetite, without hepatosplenomegaly, with normal renal function and neuromotor development.
The laboratory investigations revealed normal blood count, liver and renal function, thyroid hormones, serum calcium and potassium levels, without inflammatory syndrome. Cow’s milk specific immunoglobulin E levels (3.11 kU/L) and those for beta-lactoglobulin (3.13 kU/L) were elevated, indicating an IgE-mediated cow’s milk proteins allergy. The stool tests revealed the presence of occult bleeding and negative culture.
A contrast enema study was performed, that revealed a reverse rectosigmoid ratio less than 1 (R/S ratio = 0.28), which was defined as the widest diameter of the rectum divided by the widest diameter of the sigmoid loop when fully distended by a contrast medium on the lateral view (Figure 1). The transitional zone is defined as the site of obvious caliber change during the retrograde flow of contrast material from non-dilated to dilated bowel – in our case, the transition to a dilated descendant and transverse colon (~84 mm) – Figure 2. Fasciculation/saw-tooth irregularity of the aganglionic segment can be observed in Figures 1 and 2.
Further investigations included a rectal biopsy. The histopathological examination of the samples of the biopsies revealed the absence of ganglion cells, establishing the etiologic diagnosis: congenital aganglionosis (Hirschsprung’s disease).
Regarding the surgical treatment, a minimally invasive procedure was performed (modified Soave procedure), respectively transanal excision of the aganglionic segment – rectum, sigmoid, descendent and transverse colon (up to the proximal third part) with coloanal anastomosis. A histopathological examination of the excision biopsies was performed, establishing the length of the aganglionic segment at 33 cm. The patient was administered continuous intravenous fluids and ceftriaxone 100 mg/kg/day. During the second postoperative day, the patient was advanced to a regular diet, after having multiple bowel movements. He was discharged on the fourth postoperative day, in good condition. At his most recent follow-up, the patient had been passing faces regularly, with no evidence of constipation and with normal nutritional status.
Discussion
The diagnosis of congenital megacolon is one that can be made in the first weeks of life, after excluding other pathologies that can result in a late meconium passage (hypothyroidism, cystic fibrosis, neurological diseases, intoxications, meconium plug syndrome, meconium ileus, intestinal atresia, etc.). By linking the anamnestic and clinical data, a high suspicion can be raised regarding a term newborn with this clinical manifestation (in case of preterm newborns, this pathology is rather uncommon). Later in life, considering infants, the failure to thrive (according to growth charts: length-for-age, weight-for-age, weight-for-length, ponderal index) associated with important abdominal distension, as well as delayed passage of stool should point to a differential diagnosis, including Hirschsprung’s disease(3,4).
Barium enema administered without prior preparation is useful for diagnosis, as well as a visual preoperative assessment of the intestine. It enables the visualization of the transition zone between the normal colon and the narrow-caliber aganglionic segment. However, the gold standard diagnosis method is the histopathological exam from the colorectal biopsy sample, revealing the absence of ganglia cells(2,5).
The curative and definitive treatment for this pathology is the surgical one, with techniques ranging from transanal resection to laparoscopic approaches(6).
A delayed diagnosis of Hirschsprung’s disease might predispose the patient to severe complications, such as life-threatening enterocolitis, severe malnutrition, intraoperative bleeding, temporary fecal incontinence, inadequate anastomosis healing, and soiling(7).
Conclusions
Congenital megacolon is a pathology with a significant incidence rate, that must be taken into consideration when encountering a term newborn with late meconium passage or an infant with clinical features suggestive for this disease. The curative treatment is the surgical one and, when diagnosed and treated early and correctly, the normal intestinal transit as well as the growth and development will be possible.
Autor corespondent: Luiza-Elena Bordei E-mail: luizabordei@gmail.com;
Ana Vucmanovici E-mail: anavucmanovici@gmail.com; Adrian Apostol E-mail: adrian.apostol@rez.umfcd.ro
CONFLICT OF INTEREST: none declared.
FINANCIAL SUPPORT: none declared.
This work is permanently accessible online free of charge and published under the CC-BY.
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