Anamnesis typical course of the disease and the clinical picture entirely belly bulge is the key diagnosis. Investigations that can help make the diagnosis is radiological examination with barium enema. Here will look like the classic picture of the transition area of lumen narrow to wide areas. In pictures 24 hours later and the picture looks makrokolon barium retention in long segment Hirschsprung.
Rectal suction biopsy examination can be used to find the typical histological signs of the absence of parasympathetic ganglion cell layer of muscularis mucosa and the presence of thickened nerve fibers on histochemical examination, kolinaterase activity increases.
Atresia ani is usually clear, so the diagnosis often can be enforced immediately after birth by doing a proper and thorough inspection of the perineum. Diagnosis of abnormalities anurektum first and fourth type may be missed until the baby is known to have abdominal distension and no trouble out meconium.
In infants with abnormalities of type single / low location of the abnormality either stenosis or ectopic anus often have difficulty issued meconium. In mild stenosis, infants often do not show any complaints for several months after birth. Secondary Megakolon be formed as a result of chronic obstruction lower GI area stenosis who often gain weight due to hardening of feces.
Babies with abnormalities of the second type that is not accompanied by fistula / fistula is too small to pass meconium often will experience intestinal obstruction within 48 hours after birth. In the anal region should form a thin membrane protrusion that looks darker than the surrounding skin, because meconium is located behind the membrane.
Abnormalities of high position or agenesis rectum should have an indentation which firmly bounded and have more pigment than the surrounding skin so that the physical examination can be found a hole in the wall of the posterior vaginal fistulla / perinium, or signs of fistula rektourinaria. Rektourinaria Fistulas are usually marked by the release of meconium and air discharge from the urethra.
Fourth diagnosis may be missed until a few days because the baby appeared to have a normal rectum but a short anal canal and ended deadlocked. Manifestations of intestinal obstruction occurred immediately after birth because the baby can not exclude the meconium. The diagnosis can usually be made with a digital rectal examination.
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