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Small intestinal atresia and segmental absence of muscle coats
H U M A N P A T H O L O G Y - - V O L U M E 13, NUMBER I0
October 1982
S M A L L INTESTINAL ATRESIA AND S E G M E N T A L ABSENCE OF MUSCLE COATS SENAIDE P. ALVAREZ, MD,* M. ALBA GRECO,MD,~ AND NANCY B. GENIESER,MD~: delivered of the infant by cesarean section (owing to a previous cesarean section). T h e procedtu-e was performed under general anesthesia. T h e delivery was prolonged, and the infant had an Apgar score of 1 at birth. T h e infant was intnbated, with passage of a central line, attd was given oxygen, sodinm bicarbonate, albtunin, attd intracardiac epinephrine. T h e A p g a r score at 5 rain was 4. T h e infant weighed 3,850 g. Abdontinal distension was noted 9 Tire infant was trausferred to the intensive care unit, where abdomiual radiographs showed gas in the stomach and small intestine, and i n t r a p e r i t o n e a l calcifications. A b d o m i n a l paracentesis yielded 200 ml of yellow clear fluid (positive for bile, protein, a n d blood). At seven hours o f age, the infant was taken to the operating room. T h e r e was a small intestinal p e r f o r a t i o n j n s t proxintal to a stenotic segment in the terminal ileum. Resection o f a 7-cm segment of terminal ileum, ileostomy, a n d mucous fistula were performed. T h e infant tolerated the procetlures well. Oral feedings were begun at five and a half days of life9 T h e postoperative course was complicated by several episodes o f partial obstruction of tire ileostomy characterized by acidosis and a b o u t o f sepsis 9 At two a u d a q u a r t e r m o n t h s , a reanastomosis of the intestine was performed. T h e infant was discharged at two a n d a half mouths o f age in excellent condition. Sweat tests d o n e at 19 days and 45 days of age were negative for cystic fibrosis of the pancreas. T h e child was doing well one year after snrgery.
The case of a newborn infant with small-intestinal atresia coexisting with segmental absence of muscle coats leading to perforation and meconium perflonitis is presented. The theories of pathogenesis o f the simultaneous occurrence o f segmental absence of gut musculature and atresia are briejTy reviewed. A possible etiologic role of vascular accident in utero f o r both conditions is discussed. H u m Pathol 1 3 : 9 4 8 - 9 5 1 , 1982.
Segmeutal absence of muscle coats in tire small intestine is rare. ~-s Two previous reports ~a~ briefly mentioned its association with intestinal stenosis or atresia. We report here a case in which tiffs occurred and compare our findings with those in similar cases in the literature. REPORT OF A CASE A female infant was born to a 36-year-old wonmn, gravida 2, para 1, who went into spontaneous labor and was Received from the New York University School of Medicine, New York City. Accepted for pnblication Jannary 25, 1989. * Research Associate, Department of Pathology, Pediatric Pathology DMsion. 1 Assistant Professor of I'athology and Pediatrics. r Professor of Radiology. Address correspondence and reprint reqnests to Dr. Greco, Department of Pathology, MSB 611, New York University School of Medicine, 550 First Ave, New York, NY 10016.
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Figure I. Dilated portiou showing focal absence of inner (left, arrows) and outer (center, arrow) muscle layers. Note replacement of the outer by tile inner layer. (Hematoxylin-eosin stain, x40.) Right, prestenotic area showing thinning of the wall with absence of muscle coats. Arrows point to muscle coats9(Masson's trichrome stain, x40.)
948
0046-8177/82/1000/0948 $00.80 9 W. B. Saunders Co.
CASE S T U D I E S
Figure 2. Atretic portion showing lumen replaced by fibrous tissue. Note focal absence of inner muscle layer (arrows).(Hematoxylineosin stain, x25.)
RESULTS T h e specimen was fixed in 10 p e r cent buffered formalin, and multiple samples from the atretic portion and from the distal and proximal s.egments, including the perforation, were obtained. T h e specimens were processed in a routine m a n n e r and e m b e d d e d in paraffin. Sections were stained with hematoxylin-eosin, Masson's trichrome, Perl's iron for hemosiderin, antl yon Kossa's for calcium, a n d by Hall's method for bilirubin.
Gross Findings T h e small intestinal segment was 7 cm in length and fmmel-shaped. Its proximal two thirds were dilated, with a m a x i m a l d i a m e t e r o f 9.5 cm at the level o f the resected margin. This diameter decreased progressively to the point o f a t r e s i a , located 5 cm from the proximal resected margin. T h e atretic portion was 0.5 cm in length. Distal to the atresia, the diameter o f the intestine was 1.5 cm. At 4 cm from the proximal resected margin, a 0.2 • 0.2-cm perforation was identified. T h e dilated portion contained meconium, and the wall was mildly thickened. Distal to the atresia the lumen was e m p t y but the mucosa was green. T h e serosa and attached portion o f mesentery was d a r k red with multiple yellow-green areas and calcification.
Microscopic Findings Sections from the most dilated portion showed focal absence o f the i n n e r and o u t e r muscle layers in an alternating manner. (fig. 1, left and center). W h e r e present, the
muscle coats were almost n o r m a l in appearance, except for some focal thinning. T h e muscularis mucosae was normal and u n i n t e r r u p t e d . At the level o f tile perforation (prestenotic area), both inner and o u t e r muscle layers were focally absent at the site o f the r u p t u r e and in its s u r r o u n d i n g s (fig. 1, right). Sections from the atretic portion showed an absence o f mucosa a n d muscnlaris mucosae. T h e i n n e r muscle layer was also focally absent (fig. 2). Fibrous tissue, meconium- and hemosiderin-laden macrophages, and calcium replaced the lumen and e x t e n d e d into the submucosa a n d between tile muscle gaps. Sections from the poststenotic area showed n o r m a l muscle layers. T h e l u m e n contained mucus and cell debris. T h e mucosa was normal except in the area o f the perforation, where necrosis was present, and in the post-stenotic portion, where a focal ulceration with re-epithelizatiou was seen. Tile submucosa showed moderate a m o u n t s o f nlecoltium- and hemosiderin-laden macrophages, e d e m a , congestion and focal calcification at all levels, but especially where muscle coats were absent. In the serosa, tile vessels were dilated and m a r k e d l y congested but without thrombosis o r vasculitis. Calcification and meconium- and hemosiderin-laden macrophages were present. T h e enteric plexus was normal. DISCUSSION Segmental absence o f muscle coats in the small intestine manifesting as meconium peritonitis is rare. Only one case has been previously r e p o r t e d . 7 Meconium peritonitis is a nonbacterial, foreign-body and chemical peritonitis occurring d u r i n g intrauterine o r
949
H U M A N P A T H O L O G Y - - V O L U M E 13, NUMBER 10 October 1982 TABLE 1.
C L I N I C A L DATA ON T H I R T E E N CASES OF N E O N A T A L I N T E S T I N A L MUSCULAR DEFECTS Gestational Age, Birthweight
Reference
Sex
Etnanuel et al. I
M
37 wk, 2,523 g
12 hr
Steiner et al.2
M
FT, 2,740 g
29 hr
Resection of muhiple dilated segments Ileocolectomy
Zotter et al.a
M
F'I', NA
NA
None
F
FT, NA
NA
None
F
FF, NA
NA
None
M
FT, NA
NA
None
M
Premature, NA
NA
None
M
l'remature, 1,930 g
6 - 8 hr
Resection of dilated segment of ileum, collapsed terminal ileum, and cecum Resection of dilated segment ofjejtmumileum Partial resection of ileum Partial resection of jejutaum and ileum Resection of dilated and imrrowed segment of ileum Partial resection of terminal ileum (dilated and stenotic portion)
CarolP
Age at Presentation
Solowiejczyk et al.z
NA
NA, NA
2 mo
Bouckaert n
NA
Premature, 2,600 g
3 days
Timmerlnans et al. 7
M
FT, 3,180 g
24 hr
[lumphry et al.8
F
NA, NA
12 tno
This stud)"
F
FT, 3,850 g
7 hr
Surgical Procedure
Follow.up Died at 62 h of age Died at 40 days of age Died at 4 days of age Died at 3 days of age Died at 7 wk of age Died at 5 days of age Died at 3 days of age Died at 4 mo of age NA Died at 12 days of age Died at 17 days of age Doing well 9 mo after operation Doing well 1 yr after operation
ABBREVIATIONS:NA --- not available, FF = full term. early neonatal life as a result of an abnormal commtmication between the intestinal lumen anti the peritoneal cavity. It may o c c u r with o r w i t h o u t i n t e s t i n a l o b s t r u c t i o n . Obstruction leading to perforation may be due to a series of disorders such as volvulus, atresia, stenosis, congenital bands, intussusception, a n d m e c o n i u m stasis. W h e n an obstruction is absent, the perforation has been called spontaneous and many factors have been associated with it. T r a u m a at the time of delivery, sepsis, hyperplasia of lymphoid tissue, deep crypts o f Lieberkhun's gland, wide gaps accompanying the vessels penetrating the muscle layers, angiomatous-like malformation, asphyxia, a n d muscular layer agenesis have all been described in cases of spontaneous perforation. Perforations due to muscular defects have been reported in the stoutach and colon. Muscular defects in the wall o f the small intestine leading to perforation have been reported in five cases in the world literature. 3a O f these five patients only one had meconium peritonitis. 7This infant had signs o f intestinal obstruction d u r i n g the first day o f life, and at surgery, meconium peritonitis with perforation of the terminal ileum but without stenosls was f o u n d (tables 1 and 2). Stenosis associated with absence of muscle coats of the small intestine was described in only two cases 3"s (tables 1 and 2). Many factors have been implicated in the pathogenesis of the muscle coat defects. In some o f the cases there was a family history of intestinal disease ~ or of early neonatal death in siblings) and a genetically transmitted defect was postulated. A familial disease, visceral myopathy with an autosomal d o m i n a n t inheritance pattern, is known to lead to smooth muscle degeneration and replacement by fibrous tissue) ~ Abnormal embryogenesis leading to an incomplete or discontinuous myogenesis is another possibility,sa T h e splanchnic mesoderm of the primitive gut differentiates to
950
form the muscularis mucosae, the i n n e r circular and outer longitudinal layers of smooth muscle, and the connective tissue. T h e itmer circular layer differentiates earlier (10 to 42-mm entbryos) than does tile outer longitudinal muscle (20 to 75-ram fetuses), and the muscularis mucosae appears relatively late (80 to 240-ram fetuses). It is possible that an injury occurring at a specific time may affect the normal growth and differentiation of the intestinal muscle coats, leading to their absence in segments. Shaw et al., 12 in a clinical and experimental study o f spontaneous r u p t u r e of the newborn's stomach, found r u p t u r e to occur when sufficient distention existed proximally to force the muscle coats apart. T h e y concluded that the lack of muscle coats may be an artifact. This hypothesis could explain the absence of nmscle coats in a dilated portion proximal to stenosis or atresia in the sumll intestine but not in the area of the stenosis or atresia. Vascular disorders of the intestine in utero have been shown to cause snmll intestinal atresia or stenosis in many cases. T h e effects o f temporary local ischemia a n d general hypoxia on the development o f the intestines of Chick embryos were studied by Tibboel et al. l~ In experimental local t e m p o r a r y ischemia, chick embryos s u f f e r e d intestinal stenosis or atresia. T h e intestinal loops proximal to the obstruction were dilated, and the intestinal wall was extremely thin. T h e structure of both layers of the musculature became abnormal. Distal to the obstruction, the intestinal wall was n o r m a l ) 3 This study showed that temporary disruption o f the circulation in the mesenteric blood vessels d u r i n g the fetal period leads to atresia or stenosis with structural abnormalities in the muscle coats. It is possible that, in some cases, extreme degrees of musculature damage may occur and segmental discontinuity may be present. Therefore, a causal relationship between, on the one hand, vascular accidents in utero and, on the other, atresia or
CASE STUDIES TABLE
2.
PATHOLOGIC
FINDINGS IN THIRTEEN CASES OF NEONATAL MUSCULAR DEFECTS
Gross Findings Reference
Dilatation
INTESTINAL
Microscopic Findings
Stenosls
Perforation
Meconium Peritonitis
Absence of Muscle Layer
E m a n u e l et al?
Yes (sansage-like)
No
No
No
Steiner et a13
Yes (paper-thin)
No
No
No
Zotter et al?
NA
NA
Yes
No
Both layers in dilated portions Both layers in dilated portions Both layers
NA
NA
Yes
No
Both layers
NA
NA
Yes
No
NA
NA
Yes
No
Both layers in mtfltiple segments Both layers
NA
Yes
Yes
No
Both layers
Yes (jejunum-ileum with collapse o f terminal ileum) Yes (jejutmm-ileum)
No
No
No
Both layers in the collapsed segment
No
No
No
Bouckaert n T i m m e r m a n s et a13
NA
NA
NA
Yes (irregular)
No
Yes
NA Yes
H u m p h r y et al. s
Yes (dilated ileum with adjacent n a r r o w e r segment) Yes
Yes
No
No
Yes
Yes
Yes
Both layers in dilated s e g m e n t Both layers Both layers in multiple segments I n n e r muscular layer in the narrowed segment Both layers in the dilated portion a n d i n n e r layer in the atretic segment
Carroll 4
Solowiejczyk et al. s
This study
Other Fibrocystic disease Intussusception Diffuse peritottitis Diffuse peritonitis Bronchopneumonia Diffuse peritonitis Diffuse Peritonitis Multiple fistula htguinal hernia Gastroschisis Fistula Meckel's diverticulum None
ABBREVIATION: NA = details o f the gross findings not available. s t e n o s i s a n d t h e a b s e n c e o f m u s c l e c o a t s a p p e a r s likely. T h i s a s s o c i a t i o n h a s n o t b e e n full}" a p p r e c i a t e d . R e p o r t s o f man}" c a s e s o f s t e n o s i s o r a t r e s i a o f t h e s m a l l i n t e s t i n e , in e i t h e r a u t o p s y o r b i o p s y m a t e r i a l , fail to d e s c r i b e a n y d e f e c t in t h e m u s c l e . I n o n e r e p o r t t~ this a s s o c i a t i o n is b r i e f l y m e n t i o n e d , a n d in a n o t h e r , g w h i c h d e s c r i b e s a n e x p e r i m e n t a l s t u d y , t h e a b s e n c e o f m u s c l e is d o c u m e n t e d in a m i c r o p h o t o g r a p h . Our case sltowed typical atresia of the terminal ileum with focal absence of muscle coats. The mnscle defects were p r e s e n t in b o t h t h e d i l a t e d a n d t h e a t r e t i c p o r t i o n s o f t h e intestine. Since dilatation alone would not cause the defects in t h e a t r e t i c p o r t i o n , w e b e l i e v e t h a t a v a s c u l a r a c c i d e n t could explain both the atresia and the muscular defects. T h e t r e a t m e n t o f this c o n d i t i o n is s u r g i c a l r e s e c t i o n o f the diseased intestine. The prognosis should depend on the number of areas of intestine involved, however, the literat u r e i n d i c a t e s f e w s u r v i v o r s (table 1). C a s e s w i t h o u t s t e n o s i s m a y h a v e w o r s e p r o g n o s i s , s i n c e t h e c o r r e c t d i a g n o s i s is usually delayed and treatment not promptly instituted.
REFERENCES 1. Emanuel B, Gault J, Sanson J: Neonatal intestinal obstruction due to absence of intestinal musculature: a new entity. J Pediatr Surg 2:332, 1967
2. Steiner Dtt, Maxwell JG, Rasmussen BL, et al: Segmental absence of intestinal musculature: an unusual cause of intestinal obstruction in the neonate. AmJ Surg 118:964, 1969 3. Zoner S, Teltcher C: Zur bedeutung kongenitaler muskelliicken f/.ir die spontane Darmperforation im Neugeborenen und Sfuglingsaher. Zentralbl Allg Pathol 116(S):272, 1972 4. Carroll RL Jr: Absence of musculature of the distal ileum: a cause of neonatal intestinal obstruction. J Pediatr Surg 8:29, 1973 5. Solowiejczyk M, Koren E, Deligdish L, et al: Congenital absence of muscle coats in the intestinal wall. Int Surg 59:367, 1974 6. Bouckaert Jl: Darmwandanomallefin bij Gastroschisis: Aplasie van de Tunica muscularis van het distale Ileum als zeldzame Oorzaak van neonatale lleus. Acta Paediatr Belg 28:328, 1974 7. Timmermans M, Donna)" M: Perforations itSratives du grg~le sur agdn6sie musculaire, chez un nouveau-nd. Apropos d'un cas. Revue de la litt6rature. Acta Chir Belg 4:231, 1979 8. ttumphry A, Mancer K, Stephens CA: Obstructive circular-muscle defect in the small bowel in a one-year-old child. J Pediatr Surg 15:197, 1980 9. Abrams JS: Experimental intestinal atresia. Surgery 64:185, 1968 10. Blanc WA, Santulli TV, Andersen DH: Pathogenesis of jejunoileal atresia. Am J Dis Child 98:564, 1959 I 1. Mitros FA, Schuffler MD, Teja K, et al: Visceral myopathy: a cause of familial chronic intestinal pseudoobstruction. Lab Invest 44:45A, 1981 12. Shaw A, Blanc WA, Santulli TV, et al: Spontaneous rupture of the stomach in the newborn: a clinical and experimental stud)'. SurgeD" 58:561, 1965 13. Tibboel D, van Nie CJ, MolenaarJC: The effects of temporary general hypoxia and local ischemia on the development of the intestines: an experimental stud)'. J Pediatr Surg 15:57, 1980
951
October 1982
S M A L L INTESTINAL ATRESIA AND S E G M E N T A L ABSENCE OF MUSCLE COATS SENAIDE P. ALVAREZ, MD,* M. ALBA GRECO,MD,~ AND NANCY B. GENIESER,MD~: delivered of the infant by cesarean section (owing to a previous cesarean section). T h e procedtu-e was performed under general anesthesia. T h e delivery was prolonged, and the infant had an Apgar score of 1 at birth. T h e infant was intnbated, with passage of a central line, attd was given oxygen, sodinm bicarbonate, albtunin, attd intracardiac epinephrine. T h e A p g a r score at 5 rain was 4. T h e infant weighed 3,850 g. Abdontinal distension was noted 9 Tire infant was trausferred to the intensive care unit, where abdomiual radiographs showed gas in the stomach and small intestine, and i n t r a p e r i t o n e a l calcifications. A b d o m i n a l paracentesis yielded 200 ml of yellow clear fluid (positive for bile, protein, a n d blood). At seven hours o f age, the infant was taken to the operating room. T h e r e was a small intestinal p e r f o r a t i o n j n s t proxintal to a stenotic segment in the terminal ileum. Resection o f a 7-cm segment of terminal ileum, ileostomy, a n d mucous fistula were performed. T h e infant tolerated the procetlures well. Oral feedings were begun at five and a half days of life9 T h e postoperative course was complicated by several episodes o f partial obstruction of tire ileostomy characterized by acidosis and a b o u t o f sepsis 9 At two a u d a q u a r t e r m o n t h s , a reanastomosis of the intestine was performed. T h e infant was discharged at two a n d a half mouths o f age in excellent condition. Sweat tests d o n e at 19 days and 45 days of age were negative for cystic fibrosis of the pancreas. T h e child was doing well one year after snrgery.
The case of a newborn infant with small-intestinal atresia coexisting with segmental absence of muscle coats leading to perforation and meconium perflonitis is presented. The theories of pathogenesis o f the simultaneous occurrence o f segmental absence of gut musculature and atresia are briejTy reviewed. A possible etiologic role of vascular accident in utero f o r both conditions is discussed. H u m Pathol 1 3 : 9 4 8 - 9 5 1 , 1982.
Segmeutal absence of muscle coats in tire small intestine is rare. ~-s Two previous reports ~a~ briefly mentioned its association with intestinal stenosis or atresia. We report here a case in which tiffs occurred and compare our findings with those in similar cases in the literature. REPORT OF A CASE A female infant was born to a 36-year-old wonmn, gravida 2, para 1, who went into spontaneous labor and was Received from the New York University School of Medicine, New York City. Accepted for pnblication Jannary 25, 1989. * Research Associate, Department of Pathology, Pediatric Pathology DMsion. 1 Assistant Professor of I'athology and Pediatrics. r Professor of Radiology. Address correspondence and reprint reqnests to Dr. Greco, Department of Pathology, MSB 611, New York University School of Medicine, 550 First Ave, New York, NY 10016.
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Figure I. Dilated portiou showing focal absence of inner (left, arrows) and outer (center, arrow) muscle layers. Note replacement of the outer by tile inner layer. (Hematoxylin-eosin stain, x40.) Right, prestenotic area showing thinning of the wall with absence of muscle coats. Arrows point to muscle coats9(Masson's trichrome stain, x40.)
948
0046-8177/82/1000/0948 $00.80 9 W. B. Saunders Co.
CASE S T U D I E S
Figure 2. Atretic portion showing lumen replaced by fibrous tissue. Note focal absence of inner muscle layer (arrows).(Hematoxylineosin stain, x25.)
RESULTS T h e specimen was fixed in 10 p e r cent buffered formalin, and multiple samples from the atretic portion and from the distal and proximal s.egments, including the perforation, were obtained. T h e specimens were processed in a routine m a n n e r and e m b e d d e d in paraffin. Sections were stained with hematoxylin-eosin, Masson's trichrome, Perl's iron for hemosiderin, antl yon Kossa's for calcium, a n d by Hall's method for bilirubin.
Gross Findings T h e small intestinal segment was 7 cm in length and fmmel-shaped. Its proximal two thirds were dilated, with a m a x i m a l d i a m e t e r o f 9.5 cm at the level o f the resected margin. This diameter decreased progressively to the point o f a t r e s i a , located 5 cm from the proximal resected margin. T h e atretic portion was 0.5 cm in length. Distal to the atresia, the diameter o f the intestine was 1.5 cm. At 4 cm from the proximal resected margin, a 0.2 • 0.2-cm perforation was identified. T h e dilated portion contained meconium, and the wall was mildly thickened. Distal to the atresia the lumen was e m p t y but the mucosa was green. T h e serosa and attached portion o f mesentery was d a r k red with multiple yellow-green areas and calcification.
Microscopic Findings Sections from the most dilated portion showed focal absence o f the i n n e r and o u t e r muscle layers in an alternating manner. (fig. 1, left and center). W h e r e present, the
muscle coats were almost n o r m a l in appearance, except for some focal thinning. T h e muscularis mucosae was normal and u n i n t e r r u p t e d . At the level o f tile perforation (prestenotic area), both inner and o u t e r muscle layers were focally absent at the site o f the r u p t u r e and in its s u r r o u n d i n g s (fig. 1, right). Sections from the atretic portion showed an absence o f mucosa a n d muscnlaris mucosae. T h e i n n e r muscle layer was also focally absent (fig. 2). Fibrous tissue, meconium- and hemosiderin-laden macrophages, and calcium replaced the lumen and e x t e n d e d into the submucosa a n d between tile muscle gaps. Sections from the poststenotic area showed n o r m a l muscle layers. T h e l u m e n contained mucus and cell debris. T h e mucosa was normal except in the area o f the perforation, where necrosis was present, and in the post-stenotic portion, where a focal ulceration with re-epithelizatiou was seen. Tile submucosa showed moderate a m o u n t s o f nlecoltium- and hemosiderin-laden macrophages, e d e m a , congestion and focal calcification at all levels, but especially where muscle coats were absent. In the serosa, tile vessels were dilated and m a r k e d l y congested but without thrombosis o r vasculitis. Calcification and meconium- and hemosiderin-laden macrophages were present. T h e enteric plexus was normal. DISCUSSION Segmental absence o f muscle coats in the small intestine manifesting as meconium peritonitis is rare. Only one case has been previously r e p o r t e d . 7 Meconium peritonitis is a nonbacterial, foreign-body and chemical peritonitis occurring d u r i n g intrauterine o r
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H U M A N P A T H O L O G Y - - V O L U M E 13, NUMBER 10 October 1982 TABLE 1.
C L I N I C A L DATA ON T H I R T E E N CASES OF N E O N A T A L I N T E S T I N A L MUSCULAR DEFECTS Gestational Age, Birthweight
Reference
Sex
Etnanuel et al. I
M
37 wk, 2,523 g
12 hr
Steiner et al.2
M
FT, 2,740 g
29 hr
Resection of muhiple dilated segments Ileocolectomy
Zotter et al.a
M
F'I', NA
NA
None
F
FT, NA
NA
None
F
FF, NA
NA
None
M
FT, NA
NA
None
M
Premature, NA
NA
None
M
l'remature, 1,930 g
6 - 8 hr
Resection of dilated segment of ileum, collapsed terminal ileum, and cecum Resection of dilated segment ofjejtmumileum Partial resection of ileum Partial resection of jejutaum and ileum Resection of dilated and imrrowed segment of ileum Partial resection of terminal ileum (dilated and stenotic portion)
CarolP
Age at Presentation
Solowiejczyk et al.z
NA
NA, NA
2 mo
Bouckaert n
NA
Premature, 2,600 g
3 days
Timmerlnans et al. 7
M
FT, 3,180 g
24 hr
[lumphry et al.8
F
NA, NA
12 tno
This stud)"
F
FT, 3,850 g
7 hr
Surgical Procedure
Follow.up Died at 62 h of age Died at 40 days of age Died at 4 days of age Died at 3 days of age Died at 7 wk of age Died at 5 days of age Died at 3 days of age Died at 4 mo of age NA Died at 12 days of age Died at 17 days of age Doing well 9 mo after operation Doing well 1 yr after operation
ABBREVIATIONS:NA --- not available, FF = full term. early neonatal life as a result of an abnormal commtmication between the intestinal lumen anti the peritoneal cavity. It may o c c u r with o r w i t h o u t i n t e s t i n a l o b s t r u c t i o n . Obstruction leading to perforation may be due to a series of disorders such as volvulus, atresia, stenosis, congenital bands, intussusception, a n d m e c o n i u m stasis. W h e n an obstruction is absent, the perforation has been called spontaneous and many factors have been associated with it. T r a u m a at the time of delivery, sepsis, hyperplasia of lymphoid tissue, deep crypts o f Lieberkhun's gland, wide gaps accompanying the vessels penetrating the muscle layers, angiomatous-like malformation, asphyxia, a n d muscular layer agenesis have all been described in cases of spontaneous perforation. Perforations due to muscular defects have been reported in the stoutach and colon. Muscular defects in the wall o f the small intestine leading to perforation have been reported in five cases in the world literature. 3a O f these five patients only one had meconium peritonitis. 7This infant had signs o f intestinal obstruction d u r i n g the first day o f life, and at surgery, meconium peritonitis with perforation of the terminal ileum but without stenosls was f o u n d (tables 1 and 2). Stenosis associated with absence of muscle coats of the small intestine was described in only two cases 3"s (tables 1 and 2). Many factors have been implicated in the pathogenesis of the muscle coat defects. In some o f the cases there was a family history of intestinal disease ~ or of early neonatal death in siblings) and a genetically transmitted defect was postulated. A familial disease, visceral myopathy with an autosomal d o m i n a n t inheritance pattern, is known to lead to smooth muscle degeneration and replacement by fibrous tissue) ~ Abnormal embryogenesis leading to an incomplete or discontinuous myogenesis is another possibility,sa T h e splanchnic mesoderm of the primitive gut differentiates to
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form the muscularis mucosae, the i n n e r circular and outer longitudinal layers of smooth muscle, and the connective tissue. T h e itmer circular layer differentiates earlier (10 to 42-mm entbryos) than does tile outer longitudinal muscle (20 to 75-ram fetuses), and the muscularis mucosae appears relatively late (80 to 240-ram fetuses). It is possible that an injury occurring at a specific time may affect the normal growth and differentiation of the intestinal muscle coats, leading to their absence in segments. Shaw et al., 12 in a clinical and experimental study o f spontaneous r u p t u r e of the newborn's stomach, found r u p t u r e to occur when sufficient distention existed proximally to force the muscle coats apart. T h e y concluded that the lack of muscle coats may be an artifact. This hypothesis could explain the absence of nmscle coats in a dilated portion proximal to stenosis or atresia in the sumll intestine but not in the area of the stenosis or atresia. Vascular disorders of the intestine in utero have been shown to cause snmll intestinal atresia or stenosis in many cases. T h e effects o f temporary local ischemia a n d general hypoxia on the development o f the intestines of Chick embryos were studied by Tibboel et al. l~ In experimental local t e m p o r a r y ischemia, chick embryos s u f f e r e d intestinal stenosis or atresia. T h e intestinal loops proximal to the obstruction were dilated, and the intestinal wall was extremely thin. T h e structure of both layers of the musculature became abnormal. Distal to the obstruction, the intestinal wall was n o r m a l ) 3 This study showed that temporary disruption o f the circulation in the mesenteric blood vessels d u r i n g the fetal period leads to atresia or stenosis with structural abnormalities in the muscle coats. It is possible that, in some cases, extreme degrees of musculature damage may occur and segmental discontinuity may be present. Therefore, a causal relationship between, on the one hand, vascular accidents in utero and, on the other, atresia or
CASE STUDIES TABLE
2.
PATHOLOGIC
FINDINGS IN THIRTEEN CASES OF NEONATAL MUSCULAR DEFECTS
Gross Findings Reference
Dilatation
INTESTINAL
Microscopic Findings
Stenosls
Perforation
Meconium Peritonitis
Absence of Muscle Layer
E m a n u e l et al?
Yes (sansage-like)
No
No
No
Steiner et a13
Yes (paper-thin)
No
No
No
Zotter et al?
NA
NA
Yes
No
Both layers in dilated portions Both layers in dilated portions Both layers
NA
NA
Yes
No
Both layers
NA
NA
Yes
No
NA
NA
Yes
No
Both layers in mtfltiple segments Both layers
NA
Yes
Yes
No
Both layers
Yes (jejunum-ileum with collapse o f terminal ileum) Yes (jejutmm-ileum)
No
No
No
Both layers in the collapsed segment
No
No
No
Bouckaert n T i m m e r m a n s et a13
NA
NA
NA
Yes (irregular)
No
Yes
NA Yes
H u m p h r y et al. s
Yes (dilated ileum with adjacent n a r r o w e r segment) Yes
Yes
No
No
Yes
Yes
Yes
Both layers in dilated s e g m e n t Both layers Both layers in multiple segments I n n e r muscular layer in the narrowed segment Both layers in the dilated portion a n d i n n e r layer in the atretic segment
Carroll 4
Solowiejczyk et al. s
This study
Other Fibrocystic disease Intussusception Diffuse peritottitis Diffuse peritonitis Bronchopneumonia Diffuse peritonitis Diffuse Peritonitis Multiple fistula htguinal hernia Gastroschisis Fistula Meckel's diverticulum None
ABBREVIATION: NA = details o f the gross findings not available. s t e n o s i s a n d t h e a b s e n c e o f m u s c l e c o a t s a p p e a r s likely. T h i s a s s o c i a t i o n h a s n o t b e e n full}" a p p r e c i a t e d . R e p o r t s o f man}" c a s e s o f s t e n o s i s o r a t r e s i a o f t h e s m a l l i n t e s t i n e , in e i t h e r a u t o p s y o r b i o p s y m a t e r i a l , fail to d e s c r i b e a n y d e f e c t in t h e m u s c l e . I n o n e r e p o r t t~ this a s s o c i a t i o n is b r i e f l y m e n t i o n e d , a n d in a n o t h e r , g w h i c h d e s c r i b e s a n e x p e r i m e n t a l s t u d y , t h e a b s e n c e o f m u s c l e is d o c u m e n t e d in a m i c r o p h o t o g r a p h . Our case sltowed typical atresia of the terminal ileum with focal absence of muscle coats. The mnscle defects were p r e s e n t in b o t h t h e d i l a t e d a n d t h e a t r e t i c p o r t i o n s o f t h e intestine. Since dilatation alone would not cause the defects in t h e a t r e t i c p o r t i o n , w e b e l i e v e t h a t a v a s c u l a r a c c i d e n t could explain both the atresia and the muscular defects. T h e t r e a t m e n t o f this c o n d i t i o n is s u r g i c a l r e s e c t i o n o f the diseased intestine. The prognosis should depend on the number of areas of intestine involved, however, the literat u r e i n d i c a t e s f e w s u r v i v o r s (table 1). C a s e s w i t h o u t s t e n o s i s m a y h a v e w o r s e p r o g n o s i s , s i n c e t h e c o r r e c t d i a g n o s i s is usually delayed and treatment not promptly instituted.
REFERENCES 1. Emanuel B, Gault J, Sanson J: Neonatal intestinal obstruction due to absence of intestinal musculature: a new entity. J Pediatr Surg 2:332, 1967
2. Steiner Dtt, Maxwell JG, Rasmussen BL, et al: Segmental absence of intestinal musculature: an unusual cause of intestinal obstruction in the neonate. AmJ Surg 118:964, 1969 3. Zoner S, Teltcher C: Zur bedeutung kongenitaler muskelliicken f/.ir die spontane Darmperforation im Neugeborenen und Sfuglingsaher. Zentralbl Allg Pathol 116(S):272, 1972 4. Carroll RL Jr: Absence of musculature of the distal ileum: a cause of neonatal intestinal obstruction. J Pediatr Surg 8:29, 1973 5. Solowiejczyk M, Koren E, Deligdish L, et al: Congenital absence of muscle coats in the intestinal wall. Int Surg 59:367, 1974 6. Bouckaert Jl: Darmwandanomallefin bij Gastroschisis: Aplasie van de Tunica muscularis van het distale Ileum als zeldzame Oorzaak van neonatale lleus. Acta Paediatr Belg 28:328, 1974 7. Timmermans M, Donna)" M: Perforations itSratives du grg~le sur agdn6sie musculaire, chez un nouveau-nd. Apropos d'un cas. Revue de la litt6rature. Acta Chir Belg 4:231, 1979 8. ttumphry A, Mancer K, Stephens CA: Obstructive circular-muscle defect in the small bowel in a one-year-old child. J Pediatr Surg 15:197, 1980 9. Abrams JS: Experimental intestinal atresia. Surgery 64:185, 1968 10. Blanc WA, Santulli TV, Andersen DH: Pathogenesis of jejunoileal atresia. Am J Dis Child 98:564, 1959 I 1. Mitros FA, Schuffler MD, Teja K, et al: Visceral myopathy: a cause of familial chronic intestinal pseudoobstruction. Lab Invest 44:45A, 1981 12. Shaw A, Blanc WA, Santulli TV, et al: Spontaneous rupture of the stomach in the newborn: a clinical and experimental stud)'. SurgeD" 58:561, 1965 13. Tibboel D, van Nie CJ, MolenaarJC: The effects of temporary general hypoxia and local ischemia on the development of the intestines: an experimental stud)'. J Pediatr Surg 15:57, 1980
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