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Authors report a very rare malformation of the external genital organs in a male new-born who died 48 hours after birth. This malformation consisted in a total aplasia of the corpus cavernosum and bulbus penis with a fusiforme dilatation of the anterior urethra. The malformation was associated with an anal imperforation, bilateral cryptorchidism and renal hypoplasia.
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A 5-day-old Angus calf was submitted to the necropsy service at the University of Kentucky Livestock Disease Diagnostic Center. At birth, the calf was noted to have 2 scrota. Five days post-calving the calf developed severe tenesmus and an umbilical infection. Clinical examination revealed atresia ani. At necropsy, complete diphallus, imperforate ani (type 2 atresia ani), and remnants of 2 scrota were identified. This report describes the gross pathologic appearance of a rare case of complete diphallia, imperforate ani (type 2 atresia ani), and an accessory scrotum in a 5-day-old calf.
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Intestinal and renal trehalase isozymes have been distinguished in normal human amniotic fluid on the basis of their membrane-bound character and isoelectric point (pI). The intestinal trehalase was mostly membrane bound in amniotic fluid and had a pI around 4.60. In contrast, the renal form of trehalase was soluble and had a pI around 4.37. These pI values were consistent with those found in extracts of fetal intestinal (pI 4.60) and renal (pI 4.24) tissues. The determination of trehalase isozyme composition of amniotic fluid from pathological pregnancies with anal imperforation and polycystic kidney disease confirmed our findings on the origin of amniotic fluid trehalase. In the sample from a fetus with anal imperforation, low or absent intestinal trehalase isozyme was observed whereas a higher than normal level of renal trehalase activity was found in a fetus with polycystic kidney disease.
Fifty children with neurogenic bowel dysfunction and stool incontinence received in patient bowel regulation training and were interviewed an average of 1.2 years later. Twenty-eight were males. Mean age was 13.5 years (range 5.6 to 18.9 years). Of the 50 children, 27 (54%) had myelomeningocele; 21 (2%), spinal cord lesion; and 27/2 (4%), repaired imperforate ani. Frequency of stool incontinence decreased from 1.8 episodes for the week prior to discharge to 0.9 episodes for the same period preceding follow-up interview (p less than 0.025). Significant changes occurred in the recommended bowel program in order to accommodate individual home environment and family life styles. Contributory factors accounting for these changes are discussed in light of specific guidelines for the rehabilitation team.
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Extensive upper aerodigestive tract anomalies are rare in newborns. When they occur, they are often accompanied by other congenital malformations. We present a case of a newborn who presented to the Montreal (Quebec) Children's Hospital with severe tracheoesophageal abnormalities, as part of vertebral, anal, cardiac, tracheal, esophageal, renal, and limb anomalies (VACTERL) association. In spite of surgical intervention, the patient finally succumbed to other congenital abnormalities. Management of infants with such conditions usually involve complex reconstructive efforts, while prognoses remain poor due to other congenital defects and cardiopulmonary complications.