Dr.

Samer Al-Hakkak
Ph.D. (General Surgery)
FRCS (Ireland), FACS

CONGENITAL MALFORMATIONS (Continue)

Biliary atresia
In biliary atresia, the extrahepatic bile ducts are occluded causing obstructive jaundice
(conjugated hyper-bilirubinaemia) and progressive liver fibrosis in early infancy.
It should be considered if jaundice persists after 2 weeks of age. Fat malabsorption can
lead to a coagulopathy correctable with vitamin K.
An abdominal ultrasound scan may show a small gall bladder and no visible bile ducts and a
biliary radionuclide scan may show no excretion.
It is treated by a Kasai porto-enterostomy in which the occluded extrahepatic bile ducts are
excised and a jejunal Roux loop anastomosed to the hepatic hilum.
Effective drainage is more likely with surgery before 8 weeks of age and may obviate the
subsequent need for liver transplantation.

Hirschsprung’s disease
Hirschsprung’s disease is characterized by the congenital absence of intramural ganglion cells
(aganglionosis) and the presence of hypertrophic nerves in the distal large bowel.
absence of ganglion cells is due to a failure of migration of vagal neural crest cells into the
developing gut.

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The affected gut is in spasm causing a functional bowel obstruction.
The aganglionosis is restricted to the rectum and sigmoid colon in 75 per cent of patients
(short segment), involves the proximal colon in 15 per cent (long segment) and affects the
entire colon and a portion of terminal ileum in 10 per cent (total colonic aganglionosis).
A transition zone exists between the dilated, proximal, normally innervated bowel and the
narrow, distal aganglionic segment.
Hirschsprung’s disease may be familial or associated with Down syndrome or other genetic
disorders.
Gene mutations have been identified on chromosome 10 and on chromosome 13.
Hirschsprung’s disease typically presents in the neonatal period with delayed passage of
meconium, abdominal distension and bilious vomiting, but it may not be diagnosed until later
in childhood or even adult life, when it manifests as severe chronic constipation.
The diagnosis requires an adequate rectal biopsy and an experienced pathologist. A contrast
enema may show the narrow aganglionic segment, a cone and the dilated proximal bowel.
Surgery aims to remove the aganglionic segment and ‘pull-through’ ganglionic bowel to the
anus (e.g.Swenson, Duhamel, Soave and transanal procedures) and can be done in a single
stage or in several stages after first establishing a proximal stoma in normally innervated
bowel.
Most patients achieve good bowel control, but a significant minority experience residual
constipation and/or faecal incontinence or further enterocolitis.

Anorectal malformations
The anus is either imperforate or replaced by a fistula which does not pass through the muscle
complex and opens away from the specialised skin which represents the true anal site.
The sacrum and genitourinary tract are often abnormal. In boys, there may be a rectoperineal
fistula, but the most common anomaly is an imperforate anus with a rectobulbar urethral
fistula. In girls, the most common anomalies are a fistula opening in the posterior vestibule
behind the vagina or on the perineum.
Cloacal malformations, in which the rectum and genitourinary tract share a common outflow
channel, are also seen in girls.
Higher, more complex defects need a temporary colostomy, detailed investigation and then
reconstructive surgery. Where there is a fistula, meconium can be passed and the diagnosis
can be delayed for months because the perineum has not
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been inspected carefully. Most low malformations are treatedby an anoplasty soon after birth.

Urinary tract malformations

Many of these malformations are now detected by prenatal ultrasound scan. Others present in
childhood with urinary infection, obstruction or an abdominal mass. Urinary tract disorders
in children are investigated by urine microscopy and culture, ultrasound scan, assessment of
renal function and a combination of radioisotope renography (uptake and excretion), contrast
radiology and endoscopy.
In many infants, prenatally diagnosed mild to moderate hydronephrosis resolves
spontaneously. Those with more significant pelviureteric junction obstruction may be
asymptomatic or present in later childhood with urinary tract infection or loin pain.
Pyeloplasty is indicated for symptoms or impaired renal function.
In boys, partial membranous obstruction in the posterior urethra (valves) can cause a severe
prenatal obstructive uropathy. This condition demands urgent investigation and treatment
soon after birth to preserve bladder and kidney function. Renal failure develops in about one-
third of affected boys despite early endoscopic ablation of the obstructing valves.
Other congenital urinary tract malformations include ureteric abnormalities (e.g. duplex,
ureterocoele, vesicoureteric reflux),multicystic dysplastic kidney and bladder exstrophy.

Necrotising enterocolitis
is an acquired inflammatory condition of the neonatal gut, mostly affecting premature infants.
Immaturity, formula feeds (breast milk is protective), bacterial infection and impaired gut
blood flow are implicated in the pathogenesis.
The neonate becomes septic with abdominal distension,bloody stools and bilious aspirates.
Patchy or extensive pneumatosis intestinalis progresses to necrosis and perforation. It
commonly affects the terminal ileum and colon.
Small intestinal loss can be sufficient to cause severe intestinal failure. Milder cases respond to
antibiotics, gut rest and parenteral nutrition, but severe cases need an urgent laparotomy. The
mortality remains over 30 per cent.

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PAEDIATRIC SURGICAL ONCOLOGY
Neuroblastoma is a malignancy of neuroblasts in the adrenal medulla or sympathetic ganglia
and typically presents as an abdominal or paravertebral mass. These cells metastasise to
lymph nodes, bone and the liver, and they raise urinary catecholamine levels. Small localised
tumours are excised. More advanced tumours require surgery after chemotherapy. Survival
relates to tumour biology and stage (>90 per cent for small localized tumours, <50 per cent for
advanced tumours).
Wilms’ tumour (nephroblastoma) is a malignant renal tumour derived from embryonal cells; it
typically affects children aged from one to four years. A mutation in the Wilms’ tumour
suppressor gene (WT1) is responsible for some cases.
It usually presents as an abdominal mass. The tumour extends into the renal vein and vena
cava and metastasises to lymph nodes and lungs. Treatment is with chemotherapy and
surgery.
Survival depends on tumour spread, completeness of excision and the histological appearance,
but exceeds 70 per cent even with advanced tumours.