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Infantile visceral myofibromatosis—a rare cause of neonatal intestinal obstruction
Journal of Pediatric Surgery (2007) 42, 732 – 734
www.elsevier.com/locate/jpedsurg
Infantile visceral myofibromatosis— a rare cause of neonatal intestinal obstruction Vinci S. Jonesa,*, Chinnu Philipa, Kadappayil R. Harilalb a
Department of Paediatric Surgery, Matha Hospital, Thellakom, Kottayam, Kerala-686016, India Department of Pathology, Matha Hospital, Thellakom, Kottayam, Kerala-686016, India
b
Index words: Infantile myofibromatosis; Fibromatosis; Visceral; Intestinal; Intestinal obstruction; neonatal
Abstract Infantile myofibromatosis (IM) is a rare cause of intestinal obstruction in the newborn. A neonate with generalized IM having multifocal intestinal lesions presenting with intestinal obstruction is reported here. Unique intraoperative pictures are provided. The presentation, management, and the prognosis of IM are discussed. D 2007 Elsevier Inc. All rights reserved.
Infantile myofibromatosis (IM), although a rare disorder, is one of the common tumors of infancy and childhood [1]. The disease can be solitary or generalized [2]. Whereas the solitary forms have a good prognosis after adequate treatment, the generalized forms are usually fatal [3]. Visceral involvement is found in only 19% of cases [4]. Intestinal involvement can be solitary or mutifocal and is one of the less common differential diagnoses for a neonatal intestinal obstruction [3]. Multifocal intestinal involvement in generalized cases is anecdotal [5,6]. A case report of a generalized IM with multiple intestinal lesions and intestinal obstruction is presented.
1. Case report A 3-day-old, 2.04-kg, term male neonate, born to a gravida 4 mother by vaginal delivery, presented with * Corresponding author. Children’s Hospital at Westmead, 146, PO Box 293, Wentworthville NSW-2145, Australia. Tel.: +61 2 98453349, 98450000; fax: +61 2 98453180. E-mail addresses: [email protected], [email protected] (V.S. Jones). 0022-3468/$ – see front matter D 2007 Elsevier Inc. All rights reserved. doi:10.1016/j.jpedsurg.2006.12.006
features of intestinal obstruction and meconium retention. The neonate also had multiple maculopapular skin lesions and subcutaneous nodules (Fig. 1). Abdominal radiograms showed dilated bowel loops (Fig. 2). Exploratory laparotomy revealed multiple tumors of various sizes throughout the ileum and distal jejunum, one of them causing a complete obstruction of the bowel (Fig. 3). The remaining viscera were tumor-free. The totally obstructing lesion was resected, and the bowel anastomosed with a protective jejunostomy. Intensive care was instituted. Although the patient started passing intestinal content through the jejunostomy, the general condition remained poor, and he died due to overwhelming sepsis on the fifth postoperative day. Histopathological report was IM with evidence of extensive proliferation of fibromatous spindle cells in the intestinal wall of the involved bowel (Fig. 4). Lesional cells were positive for vimentin and smooth muscle actin on immunofluorescent staining.
2. Discussion Lesions in an intestinal IM are usually found in the jejunum or ileum [3,7] but have also been reported in the
Infantile visceral myofibromatosis
733
Fig. 1 Preoperative picture showing multiple skin lesions and subcutaneous nodules (arrows).
duodenum [8] and colon [9]. Infantile myofibromatosis (IM) might be a self-limiting disorder with frequent spontaneous regression, although the lesions may increase initially in number and size after birth or recur after resection [10]. The solitary forms usually have a good prognosis after complete resection [3,7]. The generalized form presents with multiple lesions in the soft tissues, bone, and viscera. Skin lesions, subcutaneous nodules, muscle tumors, skeletal hyperostosis, joint ankylosis, gingival hypertrophy, tongue lesions apart from visceral involvement of heart, lungs, and intestine have been described [5,6]. Whereas the most common dermatologic manifestation is a dermal or a subcutaneous nodule, IM can also present with ulcers, warty lesions, pedunculated or vascular swellings [11]. Ninety percent of the patients with multiple lesions present at birth or soon after [11]. The differential diagnosis for the skin and subcutaneous nodules in a newborn includes subcutaneous fat necrosis, sclerema neonatorum, post steroid panniculitis, hemangiomas, rhabdomyosarcomas, lymphatic malformations, dermoid cysts, lipomas, and teratomas [11,12].
Fig. 2 Abdominal x-ray showing paucity of gas and a few dilated bowel loops.
Fig. 3 Intraoperative picture showing multiple tumor plaques in the small bowel wall (thin black arrows), partially obstructing tumors (thick black arrows), and a lesion causing total bowel obstruction (white arrow). The microcolon is held up with fingers.
The generalized form is associated with morbidity and mortality rates reaching 75% [4]. Although most of the reported patients with lung, heart, and gastrointestinal involvement have died, a few have responded to systemic chemotherapy [4]. A combination of low-dose chemotherapy (using vincristine, actinomycin B, and cyclophosphamide) and intensive care has been advocated as a possible treatment modality for generalized disease [13]. Sarihan et al [6] report a patient with mutifocal IM presenting with intestinal perforation owing to jejunal lesions, the patient dying of sepis and diarrhea in the postoperative period after jejunostomy. This report, apart from providing a unique intraoperative image of a multifocal intestinal IM, adds to the meager list of a generalized myofibromatosis with multifocal intestinal lesions causing intestinal obstruction in a neonate.
Fig. 4 Microscopy with hematoxylin and eosin staining showing proliferation of spindle cells in the muscularis mucosa (arrow) of the intestinal wall with an associated luminal narrowing.
734
References [1] Coffin CM, Dehner LP. Fibroblastic-myofibroblastic tumors in children and adolescents: a clinicopathologic study of 108 examples in 103 patients. Pediatr Pathol 1991;11:569 - 88. [2] Chung EB, Enzinger FM. Infantile myofibromatosis. Cancer 1981;48: 1807 - 18. [3] Chang WW, Griffith KM. Solitary intestinal fibromatosis: a rare cause of intestinal obstruction in neonate and infant. J Pediatr Surg 1991;26:1406 - 8. [4] Zeller B, Storm-Mathisen I, Smevik B, et al. Cure of infantile myofibromatosis with severe respiratory complications without antitumor therapy. Eur J Pediatr 1997;156:841 - 4. [5] Famifusi JB, Nottidge VA, Antia AU, et al. Congenital generalized fibromatosis. An African case with gingival hypertrophy and other unusual features. Am J Dis Child 1976;130:1215 - 7. [6] Sarihan H, Deger O, Onder C, et al. Infantile myofibromatosis, a case report. Turk J Pediatr 1995;37:415 - 9.
V.S. Jones et al. [7] Dessanti A, Massarelli G, Bosincu L, et al. Aggressive congenital fibromatosis of the small intestine in the newborn. Report of a case and review of literature. Eur J Pediatr Surg 1999;9:422 - 5. [8] Canioni D, Fekete C, Nezelof C. Solitary intestinal fibromatosis: a rare cause of neonatal obstruction. Pediatr Pathol 1989;9:719 - 24. [9] Numanoglu A, Davies J, Millar AJ, et al. Congenital solitary intestinal fibromatosis. Eur J Pediatr Surg 2002;12:337 - 40. [10] Davies RS, Carty H, Pierro A. Infantile myofibromatosis—a review. Br J Radiol 1994;67:619 - 23. [11] Stanford D, Rogers M. Dermatological presentations of infantile myofibromatosis: a review of 27 cases. Australas J Dermatol 2000;41:156 - 61. [12] Balfour E, Antaya RJ, Lazova R. Subcutaneous fat necrosis of the newborn presenting as a large plaque with lobulated cystic areas. Cutis 2002;70:169 - 73. [13] Gandhi MM, Nathan PC, Weitzman S, et al. Successful treatment of life-threatening generalized infantile myofibromatosis using low-dose chemotherapy. J Pediatr Hematol Oncol 2003;25:750 - 4.
www.elsevier.com/locate/jpedsurg
Infantile visceral myofibromatosis— a rare cause of neonatal intestinal obstruction Vinci S. Jonesa,*, Chinnu Philipa, Kadappayil R. Harilalb a
Department of Paediatric Surgery, Matha Hospital, Thellakom, Kottayam, Kerala-686016, India Department of Pathology, Matha Hospital, Thellakom, Kottayam, Kerala-686016, India
b
Index words: Infantile myofibromatosis; Fibromatosis; Visceral; Intestinal; Intestinal obstruction; neonatal
Abstract Infantile myofibromatosis (IM) is a rare cause of intestinal obstruction in the newborn. A neonate with generalized IM having multifocal intestinal lesions presenting with intestinal obstruction is reported here. Unique intraoperative pictures are provided. The presentation, management, and the prognosis of IM are discussed. D 2007 Elsevier Inc. All rights reserved.
Infantile myofibromatosis (IM), although a rare disorder, is one of the common tumors of infancy and childhood [1]. The disease can be solitary or generalized [2]. Whereas the solitary forms have a good prognosis after adequate treatment, the generalized forms are usually fatal [3]. Visceral involvement is found in only 19% of cases [4]. Intestinal involvement can be solitary or mutifocal and is one of the less common differential diagnoses for a neonatal intestinal obstruction [3]. Multifocal intestinal involvement in generalized cases is anecdotal [5,6]. A case report of a generalized IM with multiple intestinal lesions and intestinal obstruction is presented.
1. Case report A 3-day-old, 2.04-kg, term male neonate, born to a gravida 4 mother by vaginal delivery, presented with * Corresponding author. Children’s Hospital at Westmead, 146, PO Box 293, Wentworthville NSW-2145, Australia. Tel.: +61 2 98453349, 98450000; fax: +61 2 98453180. E-mail addresses: [email protected], [email protected] (V.S. Jones). 0022-3468/$ – see front matter D 2007 Elsevier Inc. All rights reserved. doi:10.1016/j.jpedsurg.2006.12.006
features of intestinal obstruction and meconium retention. The neonate also had multiple maculopapular skin lesions and subcutaneous nodules (Fig. 1). Abdominal radiograms showed dilated bowel loops (Fig. 2). Exploratory laparotomy revealed multiple tumors of various sizes throughout the ileum and distal jejunum, one of them causing a complete obstruction of the bowel (Fig. 3). The remaining viscera were tumor-free. The totally obstructing lesion was resected, and the bowel anastomosed with a protective jejunostomy. Intensive care was instituted. Although the patient started passing intestinal content through the jejunostomy, the general condition remained poor, and he died due to overwhelming sepsis on the fifth postoperative day. Histopathological report was IM with evidence of extensive proliferation of fibromatous spindle cells in the intestinal wall of the involved bowel (Fig. 4). Lesional cells were positive for vimentin and smooth muscle actin on immunofluorescent staining.
2. Discussion Lesions in an intestinal IM are usually found in the jejunum or ileum [3,7] but have also been reported in the
Infantile visceral myofibromatosis
733
Fig. 1 Preoperative picture showing multiple skin lesions and subcutaneous nodules (arrows).
duodenum [8] and colon [9]. Infantile myofibromatosis (IM) might be a self-limiting disorder with frequent spontaneous regression, although the lesions may increase initially in number and size after birth or recur after resection [10]. The solitary forms usually have a good prognosis after complete resection [3,7]. The generalized form presents with multiple lesions in the soft tissues, bone, and viscera. Skin lesions, subcutaneous nodules, muscle tumors, skeletal hyperostosis, joint ankylosis, gingival hypertrophy, tongue lesions apart from visceral involvement of heart, lungs, and intestine have been described [5,6]. Whereas the most common dermatologic manifestation is a dermal or a subcutaneous nodule, IM can also present with ulcers, warty lesions, pedunculated or vascular swellings [11]. Ninety percent of the patients with multiple lesions present at birth or soon after [11]. The differential diagnosis for the skin and subcutaneous nodules in a newborn includes subcutaneous fat necrosis, sclerema neonatorum, post steroid panniculitis, hemangiomas, rhabdomyosarcomas, lymphatic malformations, dermoid cysts, lipomas, and teratomas [11,12].
Fig. 2 Abdominal x-ray showing paucity of gas and a few dilated bowel loops.
Fig. 3 Intraoperative picture showing multiple tumor plaques in the small bowel wall (thin black arrows), partially obstructing tumors (thick black arrows), and a lesion causing total bowel obstruction (white arrow). The microcolon is held up with fingers.
The generalized form is associated with morbidity and mortality rates reaching 75% [4]. Although most of the reported patients with lung, heart, and gastrointestinal involvement have died, a few have responded to systemic chemotherapy [4]. A combination of low-dose chemotherapy (using vincristine, actinomycin B, and cyclophosphamide) and intensive care has been advocated as a possible treatment modality for generalized disease [13]. Sarihan et al [6] report a patient with mutifocal IM presenting with intestinal perforation owing to jejunal lesions, the patient dying of sepis and diarrhea in the postoperative period after jejunostomy. This report, apart from providing a unique intraoperative image of a multifocal intestinal IM, adds to the meager list of a generalized myofibromatosis with multifocal intestinal lesions causing intestinal obstruction in a neonate.
Fig. 4 Microscopy with hematoxylin and eosin staining showing proliferation of spindle cells in the muscularis mucosa (arrow) of the intestinal wall with an associated luminal narrowing.
734
References [1] Coffin CM, Dehner LP. Fibroblastic-myofibroblastic tumors in children and adolescents: a clinicopathologic study of 108 examples in 103 patients. Pediatr Pathol 1991;11:569 - 88. [2] Chung EB, Enzinger FM. Infantile myofibromatosis. Cancer 1981;48: 1807 - 18. [3] Chang WW, Griffith KM. Solitary intestinal fibromatosis: a rare cause of intestinal obstruction in neonate and infant. J Pediatr Surg 1991;26:1406 - 8. [4] Zeller B, Storm-Mathisen I, Smevik B, et al. Cure of infantile myofibromatosis with severe respiratory complications without antitumor therapy. Eur J Pediatr 1997;156:841 - 4. [5] Famifusi JB, Nottidge VA, Antia AU, et al. Congenital generalized fibromatosis. An African case with gingival hypertrophy and other unusual features. Am J Dis Child 1976;130:1215 - 7. [6] Sarihan H, Deger O, Onder C, et al. Infantile myofibromatosis, a case report. Turk J Pediatr 1995;37:415 - 9.
V.S. Jones et al. [7] Dessanti A, Massarelli G, Bosincu L, et al. Aggressive congenital fibromatosis of the small intestine in the newborn. Report of a case and review of literature. Eur J Pediatr Surg 1999;9:422 - 5. [8] Canioni D, Fekete C, Nezelof C. Solitary intestinal fibromatosis: a rare cause of neonatal obstruction. Pediatr Pathol 1989;9:719 - 24. [9] Numanoglu A, Davies J, Millar AJ, et al. Congenital solitary intestinal fibromatosis. Eur J Pediatr Surg 2002;12:337 - 40. [10] Davies RS, Carty H, Pierro A. Infantile myofibromatosis—a review. Br J Radiol 1994;67:619 - 23. [11] Stanford D, Rogers M. Dermatological presentations of infantile myofibromatosis: a review of 27 cases. Australas J Dermatol 2000;41:156 - 61. [12] Balfour E, Antaya RJ, Lazova R. Subcutaneous fat necrosis of the newborn presenting as a large plaque with lobulated cystic areas. Cutis 2002;70:169 - 73. [13] Gandhi MM, Nathan PC, Weitzman S, et al. Successful treatment of life-threatening generalized infantile myofibromatosis using low-dose chemotherapy. J Pediatr Hematol Oncol 2003;25:750 - 4.