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Agenesis of Abdominal Musculature Associated with Genitourinary and Gastro-Intestinal Tract Anomalies
THE JOURNAL OF UROLOGY
Vol. 66, No. 4, October 1951 Printed in U.S.A.
AGENESIS OF ABDOMINAL MUSCULATURE ASSOCIATED WITH GENITO-URINARY AND GASTRO-INTESTINAL TRACT ANOMALIES OGDEN C. BRUTON, COL. (M.C.) USA
From The Pediatric Section, Medical Service, Walter Reed Army Hospital, Washington, D. C.
Congenital absence of muscles of the anterior abdominal wall is a rare anomaly. Observations recorded in the medical literature would seem to indicate that any of the skeletal muscles may be congenitally absent;1 however, none of them appear to be so consistently associated with other serious anomalies as when the abdominal muscles are absent. Obrinsky2 (1949) was able to find 41 cases, and reported an additional one in which there was a combination of agenesis of the abdominal muscles and serious malformations of the genito-urinary tract. These malformations included an enlarged and hypertonic bladder, usually occupying an abdominal or fetal position, hydro-ureters, destruction or cystic degeneration of the renal parenchyma with dilatation of the renal pelves and calyces, and cryptorchism. Silverman and Huang 3 (1950) included 3 additional cases in their more recent review and reported 3 cases of their own, stressing the frequency of alimentary tract anomalies as well as the already recognized genito-urinary tract anomalies. The apparent recent interest in this syndrome would seem to justify this documented case to stress the prognostic significance of finding absence of abdominal muscles on the initial examination of a new born infant. CASE REPORT
A full-term white male infant was admitted to the newborn nursery after birth. The mother of the infant was a 31-year-old gravida 4, para 2, who had had an uncomplicated pregnancy except for mild, recurrent edema of feet, ankles, hands, forearms and face which cleared on a salt-free diet. Her urine remained negative for albumin throughout the pregnancy, and her blood pressure was always within normal limits. She and her husband were Rh negative and she developed no Rh antibodies during this pregnancy. Her cardiolipin microflocculation was negative. The patient was delivered after a normal labor under gasoxygen-ether anesthesia with low forceps and median episiotomy. Her third pregnancy had miscarried at 4 months of unknown cause and there were two normal living children, 4½ and 5½ years of age. The father was living and well. There was no history of familial disease or congenital malformation obtainable in other members of the family trees. The infant breathed spontaneously after birth, was not cyanotic, and his general condition appeared to be good. His birth weight was 7 pounds, 2 ounces; length, 20 inches; occipitofrontal measurement, 14 inches; and chest, 13 inches. The eyes, ears, nose, mouth, and head appeared normal. There were no abnormal lung or heart findings. The skin over the abdomen, although intact, was re1 Textbook Pediatrics: Mitchell-Nelson. Philadelphia and London: W. B. Saunders Co., 1950, 5th ed., p. 1489. 2 Obrinsky, W.: Am. J. Dis. of Child. 77: 362, 1949. 3 Silverman, F. N. and Huang, N.: Am. J. Dis. of Child., 80: 91, 1950.
607
608
OGDEN C. BRUTON
markably wrinkled and redundant, and on palpation lacked tone or resistance, permitting palpation of virtually all abdominal contents. Two distinct rounded masses, approximately 1½ inches in diameter, which appeared to be cystic could be felt in the suprapubic region and left lower quadrant. Firm pressure on these masses resulted in the flow of urine through the urethra. The penis was extremely small and the testes ,vere not in the scrotum. The spine and rectum appeared normal. There was a persistent inversion and varus deformity of the forefoot bilaterally, more marked on the left. There was a piston action of the left lower extremity at the hip joint and limitation of abduction of left hip with the thigh flexed to 90 degrees to the trunk. The level of the left knee was lower than the right when the thighs were flexed at 90 degrees. Cord blood cardiolipin microflocculation was negative. urine showed a trace of albumin, was negative for sugar, and negative on microscopic examination. Blood Rh was negative. X-rays taken 4 hours after birth showed evidence of dislocation of left hip, but no other bony defects in the entire skeleton. The lungs appeared incompletely expanded, but there was no evidence of diaphragmatic
Frn. 1. Appearance of abdominal wall during first day of life
hernia. The urea nitrogen on the seventh day ,vas 47 mg. per cent. A postmortem blood culture was negative. The infant voided and passed meconium stools normally. The pelvic masses disappeared after voiding. He took glucose water and then formula at regular intervals well, but lost 11 ounces during the first 5 days when his weight stabilized. During feedings on the sixth day jerky movements of the arms were reported, but no definite convulsion was observed and no positive evidence of neurological disease could be found on examination. On the seventh day 1½ ounce feedings were taken only with some urging. In the evening of the seventh day, 5 minutes after having been examined by the doctor and appearing unchanged, he was found very cyanotic and all vital signs were absent. He failed to respond to stimulants. Clinical impression: 1) Agenesis of abdominal musculature with multiple anomalies of the genito-urinary tract; 2) uremia; 3) dislocation of left hip. On opening the body there was a moderate amount of fetal, lobulated, subcutaneous fat. There appeared to be only thin strands of rectus muscle on the left
AGEXESIS OF ABDOMINAL Ml:SCULATURE
609
and no demonstrable muscle within the right abdominal wall. The liver appeared large. The large intestine was only partially rotated, having descended to approximately half its usual position on the right. There was no evidence of gastrointestinal abnormality otherwise. There were two intra-abdominal one m the right lower fossa and another in the left internal ring. The bladder appeared large with a thin-walled diverticulum, measuring 1 cm. at its base, in the dome. There was a cystic mass apparently connected to the bladder and ureter in the left lower quadrant, and another slightly smaller cystic mass apparently connec;ting -with the right ureter lying posterior to the bladder. The proximal ureters appeared of normal caliber, but became tortuous before connecting with these two cystic masses. The kidneys were normally situated, but appeared Yery sm:111 in size, the right being smaller than the left. On individual examinations of the liver, spleen, stomach, intestine, pancreas, lungs, heart, and adrenals there were no additional abnormalities. The kidneys measured 1.5 cm. between poles. There
Frc. 2. To show urinary tract: a, Kidney; b, proximal ureter; c, dilated distal ureter, Ii, ureter al orifice; and e, bladder wall.
was very little differentiation into cortex and medulla. There was no dilatation of the pelvis. There ,rnre several 4 mm. cysts near the periphery of the right kidney. Both ureters ended in the aforementioned cystic masses, which appeared to represent dilatation of the ureters in their distal portion. The ureteral orifices of the bladder appeared normally patent and admitted a probe into the dilated ureters. The proximal ureters were patent and of normal caliber. The bladder wall appeared thickened and measured 4 mm. There -was no apparent obstruction at the bladder neck and the urethra was normally patent in the penis, permitting free expression of urine. See figure 2. Microscopic examination of sections from the lung showed eYidence of lanugo hair and desquamated epithelium in some of the alveolar spaces -with little emphysema in the periphery of the lungs. Niany of the kidney glomeruli were dilated to cystic proportions, others contained hyaline material and appeared fibrosed. The cortical glomerular-bearing area was considerably thinned. In one pole of the kidney there ,rnre aggregations of young squamous cells. The vessels
610
OGDEN C. BRUTON
in this kidney showed rather marked medial thickening. The mucous membrane of the bladder was of transitional type and overlay a normal submucosa and muscularis. There was abrupt thinning of the muscularis with apparent absence toward the center of an area representing the diverticulum on the dome of the bladder. Other sections were not significantly changed. Anatomical diagnoses: 1) Agenesis of abdominal muscles; 2) agenesis of kidneys; 3) dilatation of distal end of ureter, bilateral; 4) dilatation and hypertrophy of bladder with diverticulum in dome of bladder; 5) intra-abdominal testes; 6) incomplete midgut rotation; 7) the probable cause of death is uremia. DISCUSSION
Since the earliest reports of this remarkable combination of congenital defects, pathogenesis has been the subject most discussed, resulting in a wide variety of theories being given for the anomalies of the two systems occurring together so consistently. The abdominal wall in these cases certainly gives the impression that there has been a prolonged distention of the abdominal cavity which for some reason no longer exists, leaving the wall collapsed as in the abdomen of a mother following delivery (fig. 1). This appearance gave rise to the theory that the genito-urinary tract malformation is primary, resulting in prolonged distention of the bladder with secondary changes in the abdominal muscles by either dystrophy or atrophy. This concept seems untenable; first, because the abdominal muscles are formed by the end of the ninth -week of fetal life, long before pressure can be exerted on them by distention of the urinary bladder; 3 secondly, urethral obstruction has been a rare finding in these cases; and thirdly, the familiar picture of obstructive uropathy in infants is not associated with absence of the abdominal muscles. 4 Others have advanced the theory that the primary defect is muscular and that the genito-urinary changes are secondary. Bardeen, in discussing Osler's 5 case, stated that it is possible that the lack of resistance normally met with in the abdominal wall by the bladder at the time the kidneys begin to secrete urine may cause the bladder to expand rather than to empty secretions into the amniotic cavity through the urethra. This mechanism hardly explains those cases showing other changes than dilatation of the urinary bladder. With our present scant knowledge concerning the exact relationship of one system to another in embryogenic growth and development, a more satisfactory suggestion is that of Silverman,3 that during the sixth and seventh week of fetal life the muscular and urogenital systems are in the stage of development which, if arrested or altered, could produce the malformations described. Likewise the process of midgut rotation occurring between the fifth to tenth week of fetal life might give some clue to the frequency of anomalies of rotation occurring with this syndrome. Our case, as well as 9 out of 26 examined3 either by autopsy or roentgenographically, showed anomalies of midgut rotation. It is therefore suggested that a disturbance in embryogenesis before the tenth week might result in the 4 Campbell, M.: Pediatric Urology, with a section on Bright's Disease in Infancy and Childhood. New York: the Macmillan Company, 1937, vol. 1, p. 122. 5 Osler, W.: Bull. Johns Hopkins Hospital, 12: 331, 1901.
AGENESIS OF ABDONIINJ,L MUSCUL"·""'l'URE
611
independent occurrence of these three system anomalies. There appears to be no case of the syndrome reported in the female. The t1vo females in Silverman's3 review probably should not be included since one of them obviously represented a mas8ive omphalocele and there was no evidence of associated genito-urinary tract anomaly in the second. Occurrence only in the male is prnhably a significant observation, but the reason for it will also have to a,vait a better understanding of human embryogenesis. The survival rate is very lmv, with 60 per cent dying in early infancy Those dying early undoubtedly represent cases ,vith the more severe genito-urinary tract anomalies. The other reported cases are incapacitated more or less depending apparently on the severity of the genito-urinary tract anomalies. 1'reatment would appear to consist of control of infection in the genito-urinary tract and surgical relief of obstruction when possible. Daut 6 reported one of the few cases in which obstruction of the bladder neck seemed to be contributing to the urinary difficulties. Surgical resection of the vesical neck in this case "·as followed by marked symptomatic improvement as ,vell as a reduction in the severity of the urinary tract infection. SUMMARY
An additional case \\·ith autopsy findings of agenesis of abdominal musculature associated \\·ith genito-urinary and gastro-intestinal tract anomalies is reported. 6
Daut, R. V., Emmett, J. L. and Kennedy, R . L. J.: Proc. Staff Meet., Mayo Clinic,
22: 8, 1947.
Vol. 66, No. 4, October 1951 Printed in U.S.A.
AGENESIS OF ABDOMINAL MUSCULATURE ASSOCIATED WITH GENITO-URINARY AND GASTRO-INTESTINAL TRACT ANOMALIES OGDEN C. BRUTON, COL. (M.C.) USA
From The Pediatric Section, Medical Service, Walter Reed Army Hospital, Washington, D. C.
Congenital absence of muscles of the anterior abdominal wall is a rare anomaly. Observations recorded in the medical literature would seem to indicate that any of the skeletal muscles may be congenitally absent;1 however, none of them appear to be so consistently associated with other serious anomalies as when the abdominal muscles are absent. Obrinsky2 (1949) was able to find 41 cases, and reported an additional one in which there was a combination of agenesis of the abdominal muscles and serious malformations of the genito-urinary tract. These malformations included an enlarged and hypertonic bladder, usually occupying an abdominal or fetal position, hydro-ureters, destruction or cystic degeneration of the renal parenchyma with dilatation of the renal pelves and calyces, and cryptorchism. Silverman and Huang 3 (1950) included 3 additional cases in their more recent review and reported 3 cases of their own, stressing the frequency of alimentary tract anomalies as well as the already recognized genito-urinary tract anomalies. The apparent recent interest in this syndrome would seem to justify this documented case to stress the prognostic significance of finding absence of abdominal muscles on the initial examination of a new born infant. CASE REPORT
A full-term white male infant was admitted to the newborn nursery after birth. The mother of the infant was a 31-year-old gravida 4, para 2, who had had an uncomplicated pregnancy except for mild, recurrent edema of feet, ankles, hands, forearms and face which cleared on a salt-free diet. Her urine remained negative for albumin throughout the pregnancy, and her blood pressure was always within normal limits. She and her husband were Rh negative and she developed no Rh antibodies during this pregnancy. Her cardiolipin microflocculation was negative. The patient was delivered after a normal labor under gasoxygen-ether anesthesia with low forceps and median episiotomy. Her third pregnancy had miscarried at 4 months of unknown cause and there were two normal living children, 4½ and 5½ years of age. The father was living and well. There was no history of familial disease or congenital malformation obtainable in other members of the family trees. The infant breathed spontaneously after birth, was not cyanotic, and his general condition appeared to be good. His birth weight was 7 pounds, 2 ounces; length, 20 inches; occipitofrontal measurement, 14 inches; and chest, 13 inches. The eyes, ears, nose, mouth, and head appeared normal. There were no abnormal lung or heart findings. The skin over the abdomen, although intact, was re1 Textbook Pediatrics: Mitchell-Nelson. Philadelphia and London: W. B. Saunders Co., 1950, 5th ed., p. 1489. 2 Obrinsky, W.: Am. J. Dis. of Child. 77: 362, 1949. 3 Silverman, F. N. and Huang, N.: Am. J. Dis. of Child., 80: 91, 1950.
607
608
OGDEN C. BRUTON
markably wrinkled and redundant, and on palpation lacked tone or resistance, permitting palpation of virtually all abdominal contents. Two distinct rounded masses, approximately 1½ inches in diameter, which appeared to be cystic could be felt in the suprapubic region and left lower quadrant. Firm pressure on these masses resulted in the flow of urine through the urethra. The penis was extremely small and the testes ,vere not in the scrotum. The spine and rectum appeared normal. There was a persistent inversion and varus deformity of the forefoot bilaterally, more marked on the left. There was a piston action of the left lower extremity at the hip joint and limitation of abduction of left hip with the thigh flexed to 90 degrees to the trunk. The level of the left knee was lower than the right when the thighs were flexed at 90 degrees. Cord blood cardiolipin microflocculation was negative. urine showed a trace of albumin, was negative for sugar, and negative on microscopic examination. Blood Rh was negative. X-rays taken 4 hours after birth showed evidence of dislocation of left hip, but no other bony defects in the entire skeleton. The lungs appeared incompletely expanded, but there was no evidence of diaphragmatic
Frn. 1. Appearance of abdominal wall during first day of life
hernia. The urea nitrogen on the seventh day ,vas 47 mg. per cent. A postmortem blood culture was negative. The infant voided and passed meconium stools normally. The pelvic masses disappeared after voiding. He took glucose water and then formula at regular intervals well, but lost 11 ounces during the first 5 days when his weight stabilized. During feedings on the sixth day jerky movements of the arms were reported, but no definite convulsion was observed and no positive evidence of neurological disease could be found on examination. On the seventh day 1½ ounce feedings were taken only with some urging. In the evening of the seventh day, 5 minutes after having been examined by the doctor and appearing unchanged, he was found very cyanotic and all vital signs were absent. He failed to respond to stimulants. Clinical impression: 1) Agenesis of abdominal musculature with multiple anomalies of the genito-urinary tract; 2) uremia; 3) dislocation of left hip. On opening the body there was a moderate amount of fetal, lobulated, subcutaneous fat. There appeared to be only thin strands of rectus muscle on the left
AGEXESIS OF ABDOMINAL Ml:SCULATURE
609
and no demonstrable muscle within the right abdominal wall. The liver appeared large. The large intestine was only partially rotated, having descended to approximately half its usual position on the right. There was no evidence of gastrointestinal abnormality otherwise. There were two intra-abdominal one m the right lower fossa and another in the left internal ring. The bladder appeared large with a thin-walled diverticulum, measuring 1 cm. at its base, in the dome. There was a cystic mass apparently connected to the bladder and ureter in the left lower quadrant, and another slightly smaller cystic mass apparently connec;ting -with the right ureter lying posterior to the bladder. The proximal ureters appeared of normal caliber, but became tortuous before connecting with these two cystic masses. The kidneys were normally situated, but appeared Yery sm:111 in size, the right being smaller than the left. On individual examinations of the liver, spleen, stomach, intestine, pancreas, lungs, heart, and adrenals there were no additional abnormalities. The kidneys measured 1.5 cm. between poles. There
Frc. 2. To show urinary tract: a, Kidney; b, proximal ureter; c, dilated distal ureter, Ii, ureter al orifice; and e, bladder wall.
was very little differentiation into cortex and medulla. There was no dilatation of the pelvis. There ,rnre several 4 mm. cysts near the periphery of the right kidney. Both ureters ended in the aforementioned cystic masses, which appeared to represent dilatation of the ureters in their distal portion. The ureteral orifices of the bladder appeared normally patent and admitted a probe into the dilated ureters. The proximal ureters were patent and of normal caliber. The bladder wall appeared thickened and measured 4 mm. There -was no apparent obstruction at the bladder neck and the urethra was normally patent in the penis, permitting free expression of urine. See figure 2. Microscopic examination of sections from the lung showed eYidence of lanugo hair and desquamated epithelium in some of the alveolar spaces -with little emphysema in the periphery of the lungs. Niany of the kidney glomeruli were dilated to cystic proportions, others contained hyaline material and appeared fibrosed. The cortical glomerular-bearing area was considerably thinned. In one pole of the kidney there ,rnre aggregations of young squamous cells. The vessels
610
OGDEN C. BRUTON
in this kidney showed rather marked medial thickening. The mucous membrane of the bladder was of transitional type and overlay a normal submucosa and muscularis. There was abrupt thinning of the muscularis with apparent absence toward the center of an area representing the diverticulum on the dome of the bladder. Other sections were not significantly changed. Anatomical diagnoses: 1) Agenesis of abdominal muscles; 2) agenesis of kidneys; 3) dilatation of distal end of ureter, bilateral; 4) dilatation and hypertrophy of bladder with diverticulum in dome of bladder; 5) intra-abdominal testes; 6) incomplete midgut rotation; 7) the probable cause of death is uremia. DISCUSSION
Since the earliest reports of this remarkable combination of congenital defects, pathogenesis has been the subject most discussed, resulting in a wide variety of theories being given for the anomalies of the two systems occurring together so consistently. The abdominal wall in these cases certainly gives the impression that there has been a prolonged distention of the abdominal cavity which for some reason no longer exists, leaving the wall collapsed as in the abdomen of a mother following delivery (fig. 1). This appearance gave rise to the theory that the genito-urinary tract malformation is primary, resulting in prolonged distention of the bladder with secondary changes in the abdominal muscles by either dystrophy or atrophy. This concept seems untenable; first, because the abdominal muscles are formed by the end of the ninth -week of fetal life, long before pressure can be exerted on them by distention of the urinary bladder; 3 secondly, urethral obstruction has been a rare finding in these cases; and thirdly, the familiar picture of obstructive uropathy in infants is not associated with absence of the abdominal muscles. 4 Others have advanced the theory that the primary defect is muscular and that the genito-urinary changes are secondary. Bardeen, in discussing Osler's 5 case, stated that it is possible that the lack of resistance normally met with in the abdominal wall by the bladder at the time the kidneys begin to secrete urine may cause the bladder to expand rather than to empty secretions into the amniotic cavity through the urethra. This mechanism hardly explains those cases showing other changes than dilatation of the urinary bladder. With our present scant knowledge concerning the exact relationship of one system to another in embryogenic growth and development, a more satisfactory suggestion is that of Silverman,3 that during the sixth and seventh week of fetal life the muscular and urogenital systems are in the stage of development which, if arrested or altered, could produce the malformations described. Likewise the process of midgut rotation occurring between the fifth to tenth week of fetal life might give some clue to the frequency of anomalies of rotation occurring with this syndrome. Our case, as well as 9 out of 26 examined3 either by autopsy or roentgenographically, showed anomalies of midgut rotation. It is therefore suggested that a disturbance in embryogenesis before the tenth week might result in the 4 Campbell, M.: Pediatric Urology, with a section on Bright's Disease in Infancy and Childhood. New York: the Macmillan Company, 1937, vol. 1, p. 122. 5 Osler, W.: Bull. Johns Hopkins Hospital, 12: 331, 1901.
AGENESIS OF ABDONIINJ,L MUSCUL"·""'l'URE
611
independent occurrence of these three system anomalies. There appears to be no case of the syndrome reported in the female. The t1vo females in Silverman's3 review probably should not be included since one of them obviously represented a mas8ive omphalocele and there was no evidence of associated genito-urinary tract anomaly in the second. Occurrence only in the male is prnhably a significant observation, but the reason for it will also have to a,vait a better understanding of human embryogenesis. The survival rate is very lmv, with 60 per cent dying in early infancy Those dying early undoubtedly represent cases ,vith the more severe genito-urinary tract anomalies. The other reported cases are incapacitated more or less depending apparently on the severity of the genito-urinary tract anomalies. 1'reatment would appear to consist of control of infection in the genito-urinary tract and surgical relief of obstruction when possible. Daut 6 reported one of the few cases in which obstruction of the bladder neck seemed to be contributing to the urinary difficulties. Surgical resection of the vesical neck in this case "·as followed by marked symptomatic improvement as ,vell as a reduction in the severity of the urinary tract infection. SUMMARY
An additional case \\·ith autopsy findings of agenesis of abdominal musculature associated \\·ith genito-urinary and gastro-intestinal tract anomalies is reported. 6
Daut, R. V., Emmett, J. L. and Kennedy, R . L. J.: Proc. Staff Meet., Mayo Clinic,
22: 8, 1947.