Alberto H. Pizarro Gallardo. Master in Medical sciences. Anatomopathologist
Rebeca L. Díaz Romero. Cytotechnologist.
Benjamín Zavala Retes. Medicine School.
Abstract: This report presents a case of autopsy with an explicit Amniotic Band Syndrome that constricted and disrupted the right pelvic member just below the knee joint, founding the other limbs without abnormalities of any kind; on the internal examination of the organs it was found a cerebral bleeding, a right tetralobulated lung and heart hemorrhage.
Introduction:
The Anmiotic Band Syndrome (ABS) consist in a group of congenital malformations caused by the detachment of the amnios, wich causes the formation of bands with free ends capable to stick to the fetus causing several damages.there are many alterations caused by the amniotic bands, alterations such as minor constriction rings or complex abnormalities in which the bands stick, circle and cut fetus segments that depending on their localization generate alterations like skull-face disruptions; over the abdominal wall, limbs, fingers or toes they can have the same effect being much more common the disruption of the limbs, fingers or toes. (1,2,3,4,5,6,7,8)
The ABS has an incidence of 1:1200 births; the most common pathological injuries asociated with the ABS are: anular constriction with or without disruption of the limbs, fingers or toes, lymphedema, syndactilia, kyphoescoliosis, aplasia cutis, club foot, gastroschisis, onphalocele, bladder exstrophy, imperforated anus and renal dysplasia.
We present an autopsy of a 22 weeks fetus which presents the ABS with disruption of right tibia and fibula just below the knee joint, congenital cardiopathy and a cerebral bleeding.
Case report:
32 year old woman without pregnancy control, the fetus is product of the third pregnancy; the mother did not show illness during the pregnancy and it has not relevant genetic historial records. During the 22 pregnancy week the mothers advises that the fetus movements are gone, for that reason the mother go to the Hospital General de Tepic Nayarit, México. where besides the fetus heart pulsations are nor detected, an ecosonography is realized and the fetus dead is confirmed. The pregnancy is interrupted vaginal via and it is obtained as a product a male sex fetus with right limb amputation below de knee joint.
An autopsy is realized founding:
Male sex fetus, weight if 550gr. with 21cm cephalocaudal length, superior limb length 11.5cm, inferior left length 12.9cm, hand length 3cm, left foot length 3.3cm; head well shaped with presence of external trauma, without cranial abnormalities; and lumbar hematoma; thorax and abdomen are normal without wall disruptions; 3 limbs complete and normal, the right inferior limb presents amputation of fibula and tibia just below the knee joint, with closed stump, without ulcerations or other kind of lesion. Transverse palmar crease is not visible both hands or legs. A skull cut is realized with the Pizarro technique, which allows a complete sagittal view of the internal structures being visible an edematic brain, with hemorrhage in the infratentorial zone; oral cavity and spinal column are normal.
In the internal organs examination a cardiomegaly is advisable comparing with the lungs, a biventricular hypertrophy is present, necrosis and focal hemorrhage. In the right lung a fourth lobule is visible, all four lobes look normal. In abdominal cavity ascitic liquid is detected (30ml.) the liver is swollen and the kidneys are normal.
Histological examination:
In nervous system is found local necrosis and astrocyte and oligodendrocyte edema, data compatible with anoxia and cerebral edema. The heart is found with local necrosis and cells with diffuse vacuolization. In the lungs immature tissue is found besides vascular thrombosis. Suprarrenal glands and skin are normal. Kidney found with focal vascular thrombosis and glomerular and tubular edema and necrosis caused by prerrenal anoxia. Liver is found with edema and hepatocyte local necrosis, on the sinusoids extremadullar hemathopoyesis can be watched.
Discussion:
The ABS is considered morphogenesis mistake of the disruption type, it is the result of the secondary destruction or the interference in an organ o region that previously had a normal development, disruption caused by an amniotic band that prevent the growth of the affected limb or region, cut or causes abnormalities on skull and abdomen. (1)
There exists two theories about the pathogenesis of the amniotic bands: the outer proposed by Torpin who explains that the most common cause of the amniotic band genesis is the premature rupture of the amnion, with a progressive separation from the corion and the bending of the amniotic bag, this causes mesodermic bands with a free side. La gravity of the injury will depend on the band stick place and the fetus development week.
The inner theory proposed by Streeter propose that the deformities are the result of fetal development abnormalities and that the bands are just secondary effects of this development abnormalities.
We present a case with ABS that had inferior right limb amputation; four lung lobules in the right lung and a congenital cardiophaty besides alterations in kidney and brain caused by anoxia.
Conclusions:
We presented a case with ABS that had an amputation in the right inferior limb associated with the presence of four lobules on the right lung, a congenital cardiopathy and alterations in kidney and brain caused by anoxia.
Bibliography:
1.-Rivas LR, Juárez AA, Islas DL, Durán PM, Oviedo RI. Síndrome de bandas amnióticas asociado a una secuencia Potter. Un caso de autopsia. RevMexPediatr; 72 (2) 78-81; 2005.
2.-Mendoza GP, Durán PM, Reséndiz MM. Síndorme de bandas amnióticas asociado a malformaciones de la pentalogia de Cantrell. RevMexPediatr; 71 (6) 286-288; 2004.
3.- Bonet BH, Atar FM, Espíndola EM. Síndrome de bridas amnióticas. Arch.Argent.pediatr; 100(3) 240-244; 2002.
4.- Pons GA, Sáez AR, Sepúlveda LW. Brida amniótica, sinequia intrauterina y tabique mulleriano: Etiopatogenia, diagnóstico diferencial y pronóstico. RevChilUltrasonografía; 8 (2) 51-58; 2005.
5.- Bronshtein M, Zimmer EZ. ¿Pueden las bandas amnióticas amputar extremidades fetales?. UltrasoundObsGyn; 10 309-311; 1997.
6.-Drose AJ. Amputación de extremidades en el síndrome de bandas amnióticas: observación seriada mediante ultrasonografía y dopler. UltrasoundObsGyn; 10 312-315; 1997.
7.- Saldarriaga W, Isaza C. Presentación de 4 casos de defectos de blastogénesis: complejo cuerpo extremidad, complejo oeis y cordón corto. http://colombiamedica.univalle.edu.co/Vol36No3/cm36n3a11.htm
8.- Goss L. Amniotic Band Syndrome. http://www.podiatrynetwork.com/print.cfm?id=240
9.- Steele R. Amniotic band syndrome. http://parenting.ivillage.com/baby/bhealth/0,,3q5v,00html?arrivalSA=1&cobrandRef=0.
10.- Light TR, Ogden JA. Congenital constriction band syndrome. Pathophysiology and treatment. Yale J Bio Med. 1993; 66(3):143-55 (ISSN: 0044-0086)
11.- Bamforth JS. Amniotic band sequence: Streeter´s hypothesis reexaminated. http://www.ncbi.nlm.nih.gov/pubmed/1488974?dopt
12.- Goncalves LF, Jeanty P. Amniotic band syndrome. http://thefetus.net/page.php?id=405
13.- Donnenfeld AE, Dunn LK, Rose NC. Discordant amniotic band sequence in monozygotic twins. Am. J. Med. Genet. 20 685-694; 1985.
14.- Etches PC, Stewart AR, Ives EJ. Familial congenital amputations. J. Pediat. 101 448-449; 1982.
15.- Fiedler JM, Phelan JP. The amniotic band syndrome in monozygotic twins. Am. J. Obstet. Gynec. 146 864-865; 1983.
16.- Gellis SS. Constrictive bands in the human. Birth Defects Orig. Art. Ser. XIII(1) 259-2568; 1977.
17.- Jones KL, Smith DW, Hall BD, Hall JG, Ebbin AJ, Massoud H, Golbus MS. A pattern of craniofacial and limb defects secondary to aberrant tissue bands. J. Pediat. 84 90-95; 1974.
18.- Keller H, Neuhauser G, Durkin-Stamm MV, Kaveggia EG, Schaaff A, Siltzmann F. “ADAM complex” (amniotic deformity, adhesions, mutilations)- a pattern of craniofacial and limb defects. Am. J. Med. Genet. 2 81-98; 1978.
19.- Lubinsky M. Familial amniotic bands. (letter) J. Pediat. 102 323only; 1983.
20.- Lubinsky M, Sujansky E, Sanger W, Salyards P, Severn C. Familial amniotic bands. Am. J. Med. Genet. 14 81-87; 1983.
21.-Orioli IM, Ribeiro MG, Castilla EE. Clinical and epidemiological studies of amniotic deformity, adhesion, and mutilation (ADAM) sequence in a South American (ECLAMC) population. Am. J. Med. Genet. 118ª 135-145; 2003.
22.- Pauli RM, Lebovitz RM, Meyer RD. Familial recurrence of Terminal transverse defects of hte arm, Clin. Genet. 27 555-563; 1985.
23.- Streeter GL. Focal deficiencies in fetal tissues and their relation to intra-uterine amputation. Washington: Carnegie Institution of Washington (pub.) 22(126) 1-144; 1930.
24.- Taub PJ, Bradley JP, Setoguchi Y, Schimmenti L, Kawamoto HK. Typical facial clefting and constriction band anomalies: an unusual association in three unrelated patients. Am. J. Med. Genet. 120ª 256-260; 2003.
25.- Temtamy SA, McKusick VA. The Genetics of Hand Malformations. New York: Alan R. Liss (pub.) 1978.
26.- Torpin R. Fetal Malformations Caused by Amnion Rupture during Gestation. Springfield, III: Charles C Thomas (pub.) 1968.
Rebeca L. Díaz Romero. Cytotechnologist.
Benjamín Zavala Retes. Medicine School.
Abstract: This report presents a case of autopsy with an explicit Amniotic Band Syndrome that constricted and disrupted the right pelvic member just below the knee joint, founding the other limbs without abnormalities of any kind; on the internal examination of the organs it was found a cerebral bleeding, a right tetralobulated lung and heart hemorrhage.
Introduction:
The Anmiotic Band Syndrome (ABS) consist in a group of congenital malformations caused by the detachment of the amnios, wich causes the formation of bands with free ends capable to stick to the fetus causing several damages.there are many alterations caused by the amniotic bands, alterations such as minor constriction rings or complex abnormalities in which the bands stick, circle and cut fetus segments that depending on their localization generate alterations like skull-face disruptions; over the abdominal wall, limbs, fingers or toes they can have the same effect being much more common the disruption of the limbs, fingers or toes. (1,2,3,4,5,6,7,8)
The ABS has an incidence of 1:1200 births; the most common pathological injuries asociated with the ABS are: anular constriction with or without disruption of the limbs, fingers or toes, lymphedema, syndactilia, kyphoescoliosis, aplasia cutis, club foot, gastroschisis, onphalocele, bladder exstrophy, imperforated anus and renal dysplasia.
We present an autopsy of a 22 weeks fetus which presents the ABS with disruption of right tibia and fibula just below the knee joint, congenital cardiopathy and a cerebral bleeding.
Case report:
32 year old woman without pregnancy control, the fetus is product of the third pregnancy; the mother did not show illness during the pregnancy and it has not relevant genetic historial records. During the 22 pregnancy week the mothers advises that the fetus movements are gone, for that reason the mother go to the Hospital General de Tepic Nayarit, México. where besides the fetus heart pulsations are nor detected, an ecosonography is realized and the fetus dead is confirmed. The pregnancy is interrupted vaginal via and it is obtained as a product a male sex fetus with right limb amputation below de knee joint.
An autopsy is realized founding:
Male sex fetus, weight if 550gr. with 21cm cephalocaudal length, superior limb length 11.5cm, inferior left length 12.9cm, hand length 3cm, left foot length 3.3cm; head well shaped with presence of external trauma, without cranial abnormalities; and lumbar hematoma; thorax and abdomen are normal without wall disruptions; 3 limbs complete and normal, the right inferior limb presents amputation of fibula and tibia just below the knee joint, with closed stump, without ulcerations or other kind of lesion. Transverse palmar crease is not visible both hands or legs. A skull cut is realized with the Pizarro technique, which allows a complete sagittal view of the internal structures being visible an edematic brain, with hemorrhage in the infratentorial zone; oral cavity and spinal column are normal.
In the internal organs examination a cardiomegaly is advisable comparing with the lungs, a biventricular hypertrophy is present, necrosis and focal hemorrhage. In the right lung a fourth lobule is visible, all four lobes look normal. In abdominal cavity ascitic liquid is detected (30ml.) the liver is swollen and the kidneys are normal.
Histological examination:
In nervous system is found local necrosis and astrocyte and oligodendrocyte edema, data compatible with anoxia and cerebral edema. The heart is found with local necrosis and cells with diffuse vacuolization. In the lungs immature tissue is found besides vascular thrombosis. Suprarrenal glands and skin are normal. Kidney found with focal vascular thrombosis and glomerular and tubular edema and necrosis caused by prerrenal anoxia. Liver is found with edema and hepatocyte local necrosis, on the sinusoids extremadullar hemathopoyesis can be watched.
Discussion:
The ABS is considered morphogenesis mistake of the disruption type, it is the result of the secondary destruction or the interference in an organ o region that previously had a normal development, disruption caused by an amniotic band that prevent the growth of the affected limb or region, cut or causes abnormalities on skull and abdomen. (1)
There exists two theories about the pathogenesis of the amniotic bands: the outer proposed by Torpin who explains that the most common cause of the amniotic band genesis is the premature rupture of the amnion, with a progressive separation from the corion and the bending of the amniotic bag, this causes mesodermic bands with a free side. La gravity of the injury will depend on the band stick place and the fetus development week.
The inner theory proposed by Streeter propose that the deformities are the result of fetal development abnormalities and that the bands are just secondary effects of this development abnormalities.
We present a case with ABS that had inferior right limb amputation; four lung lobules in the right lung and a congenital cardiophaty besides alterations in kidney and brain caused by anoxia.
Conclusions:
We presented a case with ABS that had an amputation in the right inferior limb associated with the presence of four lobules on the right lung, a congenital cardiopathy and alterations in kidney and brain caused by anoxia.
Bibliography:
1.-Rivas LR, Juárez AA, Islas DL, Durán PM, Oviedo RI. Síndrome de bandas amnióticas asociado a una secuencia Potter. Un caso de autopsia. RevMexPediatr; 72 (2) 78-81; 2005.
2.-Mendoza GP, Durán PM, Reséndiz MM. Síndorme de bandas amnióticas asociado a malformaciones de la pentalogia de Cantrell. RevMexPediatr; 71 (6) 286-288; 2004.
3.- Bonet BH, Atar FM, Espíndola EM. Síndrome de bridas amnióticas. Arch.Argent.pediatr; 100(3) 240-244; 2002.
4.- Pons GA, Sáez AR, Sepúlveda LW. Brida amniótica, sinequia intrauterina y tabique mulleriano: Etiopatogenia, diagnóstico diferencial y pronóstico. RevChilUltrasonografía; 8 (2) 51-58; 2005.
5.- Bronshtein M, Zimmer EZ. ¿Pueden las bandas amnióticas amputar extremidades fetales?. UltrasoundObsGyn; 10 309-311; 1997.
6.-Drose AJ. Amputación de extremidades en el síndrome de bandas amnióticas: observación seriada mediante ultrasonografía y dopler. UltrasoundObsGyn; 10 312-315; 1997.
7.- Saldarriaga W, Isaza C. Presentación de 4 casos de defectos de blastogénesis: complejo cuerpo extremidad, complejo oeis y cordón corto. http://colombiamedica.univalle.edu.co/Vol36No3/cm36n3a11.htm
8.- Goss L. Amniotic Band Syndrome. http://www.podiatrynetwork.com/print.cfm?id=240
9.- Steele R. Amniotic band syndrome. http://parenting.ivillage.com/baby/bhealth/0,,3q5v,00html?arrivalSA=1&cobrandRef=0.
10.- Light TR, Ogden JA. Congenital constriction band syndrome. Pathophysiology and treatment. Yale J Bio Med. 1993; 66(3):143-55 (ISSN: 0044-0086)
11.- Bamforth JS. Amniotic band sequence: Streeter´s hypothesis reexaminated. http://www.ncbi.nlm.nih.gov/pubmed/1488974?dopt
12.- Goncalves LF, Jeanty P. Amniotic band syndrome. http://thefetus.net/page.php?id=405
13.- Donnenfeld AE, Dunn LK, Rose NC. Discordant amniotic band sequence in monozygotic twins. Am. J. Med. Genet. 20 685-694; 1985.
14.- Etches PC, Stewart AR, Ives EJ. Familial congenital amputations. J. Pediat. 101 448-449; 1982.
15.- Fiedler JM, Phelan JP. The amniotic band syndrome in monozygotic twins. Am. J. Obstet. Gynec. 146 864-865; 1983.
16.- Gellis SS. Constrictive bands in the human. Birth Defects Orig. Art. Ser. XIII(1) 259-2568; 1977.
17.- Jones KL, Smith DW, Hall BD, Hall JG, Ebbin AJ, Massoud H, Golbus MS. A pattern of craniofacial and limb defects secondary to aberrant tissue bands. J. Pediat. 84 90-95; 1974.
18.- Keller H, Neuhauser G, Durkin-Stamm MV, Kaveggia EG, Schaaff A, Siltzmann F. “ADAM complex” (amniotic deformity, adhesions, mutilations)- a pattern of craniofacial and limb defects. Am. J. Med. Genet. 2 81-98; 1978.
19.- Lubinsky M. Familial amniotic bands. (letter) J. Pediat. 102 323only; 1983.
20.- Lubinsky M, Sujansky E, Sanger W, Salyards P, Severn C. Familial amniotic bands. Am. J. Med. Genet. 14 81-87; 1983.
21.-Orioli IM, Ribeiro MG, Castilla EE. Clinical and epidemiological studies of amniotic deformity, adhesion, and mutilation (ADAM) sequence in a South American (ECLAMC) population. Am. J. Med. Genet. 118ª 135-145; 2003.
22.- Pauli RM, Lebovitz RM, Meyer RD. Familial recurrence of Terminal transverse defects of hte arm, Clin. Genet. 27 555-563; 1985.
23.- Streeter GL. Focal deficiencies in fetal tissues and their relation to intra-uterine amputation. Washington: Carnegie Institution of Washington (pub.) 22(126) 1-144; 1930.
24.- Taub PJ, Bradley JP, Setoguchi Y, Schimmenti L, Kawamoto HK. Typical facial clefting and constriction band anomalies: an unusual association in three unrelated patients. Am. J. Med. Genet. 120ª 256-260; 2003.
25.- Temtamy SA, McKusick VA. The Genetics of Hand Malformations. New York: Alan R. Liss (pub.) 1978.
26.- Torpin R. Fetal Malformations Caused by Amnion Rupture during Gestation. Springfield, III: Charles C Thomas (pub.) 1968.
