- Email: [email protected]
Congenital intestinal lymphangiectasia
Journal of Clinical Imaging 27 (2003) 330 – 332
Congenital intestinal lymphangiectasia CT demonstration in a young child Joseph P. Mazziea,b, Peter I. Maslina,b, Libia Moyb,c, Anita P. Pricea,b, Douglas S. Katza,b,* a
Department of Radiology, Winthrop-University Hospital, Mineola, NY, USA b State University of New York at Stony Brook, Stony Brook, NY, USA c Department of Pediatrics, Winthrop-University Hospital, Mineola, NY, USA Received 18 August 2002; received in revised form 20 September 2002
Abstract There have been few reports of the CT findings of intestinal lymphangiectasia in adults, and no CT descriptions have been reported in the literature in children. We describe the CT appearance of a biopsy-proven case of primary small intestinal lymphangiectasia in a 3-year-old boy, and we will review the limited literature on the CT findings in this disorder in adults. D 2003 Elsevier Inc. All rights reserved. Keywords: Lymphangiectasia; Small bowel; Children; Computed tomography
Primary small intestinal lymphangiectasia is a rare congenital protein-losing enteropathy that is characterized pathologically by hypoplastic lymphatic vessels within the intestinal mucosa, submucosa and small bowel mesentery. Due to this functional obstruction to lymphatic flow, there is resultant dilatation of the small intestinal lymphatic channels, which causes the small bowel wall to appear thickened. Rupture of these dilated lymphatics into the small bowel lumen and occasionally into the peritoneal cavity results in hypoproteinemia, steatorrhea, lymphopenia, ascites and even pleural effusions [1– 3]. There have been only a few reports of the CT findings of intestinal lymphangiectasia — either primary or secondary — in adults and, to our knowledge, no descriptions of the CT abnormalities seen in small intestinal lymphangiectasia have been reported in the literature in children. We describe the CT appearance of a biopsy-proven case of primary small intestinal lymphangiectasia in a 3-year-old boy, and we will review the limited literature on the CT findings in this disorder in adults.
* Corresponding author. Department of Radiology, Winthrop-University Hospital, 259 First Street, Mineola, NY 11501, USA. Tel.: +1-516-6633800; fax: +1-516-663-8172. E-mail address: [email protected] (D.S. Katz). 0899-7071/03/$ – see front matter D 2003 Elsevier Inc. All rights reserved. doi:10.1016/S0899-7071(02)00588-0
1. Case report A 3-year-old boy with known small intestinal lymphangiectasia was referred to our institution for additional care and follow-up. He was born at full term in Mexico, and was well at birth without evident abnormalities. Although he gained weight appropriately, he suffered from episodes of constipation alternating with diarrhea. At 2 years of age, his mother noticed that his abdomen was becoming distended; the child was subsequently evaluated at a pediatric hospital in that country. His work-up included abdominal ultrasound and CT (which we were unable to obtain), which reportedly showed multiple soft-tissue masses in the abdominal mesentery, as well as diffuse small intestinal wall thickening and ascites. These findings were believed to be suspicious for Hodgkin’s lymphoma and, as a result, the child underwent an exploratory laparotomy. This confirmed the diffuse small intestinal thickening and multiple mesenteric masses; at surgery, the ascitic fluid was chylous in appearance. Biopsy of one of these masses revealed a lymphangioma and a sample of the ascitic fluid demonstrated lymphocytes. There was no evidence of lymphoma. A small bowel biopsy was not performed, to our knowledge. The child was placed on medium-chain triglycerides, and has been nearly completely asymptomatic. On examination at our institution, he was a healthy-appearing child with no significant findings on
J.P. Mazzie et al. / Journal of Clinical Imaging 27 (2003) 330–332
331
physical examination. His height and weight were approximately at the 75th percentile. His blood chemistries were normal, and there was no steatorrhea evident on examination of the stool. The patient was therefore continued on a semi-low fat diet, with 20% of his total caloric intake provided by medium-chain triglycerides. A CT scan was performed at our institution, to obtain a noninvasive baseline of the patient’s abnormalities (Fig. 1). This examination showed a small amount of abdominal and pelvic ascites, diffuse thickening of the entire jejunum and ileum along with mild bowel dilatation, edema in the mesentery and confluent relatively low density soft-tissue masses in the mesentery consistent with the known lymphangiomas.
2. Discussion
Fig. 1. A 3-year-old boy with relatively asymptomatic, biopsy proven congenital small intestinal and mesenteric lymphangiectasia. (A, B) Axial abdominal CT images obtained with oral and intravenous contrast show diffuse small intestinal wall thickening and mild dilatation, mesenteric edema and multiple relatively low density confluent mesenteric soft-tissue masses, which on earlier exploratory laparotomy represented lymphangiomas (arrowheads). (C) Axial CT image of pelvis shows small amount of anterior ascites (arrows).
Small intestinal lymphangiectasia was initially described in 1961 by Waldman et al. [1]. This rare disorder can either be primary, as a result of a congenital abnormality of the lymphatic system, or secondary, acquired as a result of surgical damage to the lymphatic vessels, chronic rightsided heart failure, constrictive pericarditis, retroperitoneal tumor or tuberculosis [1 –3]. Inflammatory bowel disease may also be associated with secondary intestinal lymphangiectasia. Although the majority of children with primary intestinal lymphangiectasia present within the first 2 years of life, the disorder may present at any time throughout childhood and the severity of the disease is very variable. Boys and girls are equally affected, and lymphatic abnormalities may also occur elsewhere within the body [1,2]. Intestinal lymphangiectasia has been reported to occur in families, as well as in genetic disorders such as Noonan’s syndrome [1]. The diagnosis of small intestinal lymphangiectasia should be strongly considered in any young patient who presents with peripheral edema, hypoproteinemia and lymphocytopenia that cannot be explained by hepatic or renal disease. Other signs and symptoms include vomiting, growth retardation and hypocalcemic seizures secondary to severe steatorrhea. Laboratory findings that are consistent with the diagnosis include low levels of albumin, an elevated fecal alpha antitrypsin level, reduced levels of immunoglobulins and low levels of circulating lymphocytes. An upper gastrointestinal series demonstrates nonspecific diffusely thickened mucosal folds. The mainstay of treatment for primary small intestinal lymphangiectasia is a low fat, high protein diet that is rich in medium-chain triglycerides [1 –4]. To our knowledge, the CT appearance of primary (or secondary) intestinal lymphangiectasia has not been reported in the imaging literature in children. A very small number of cases of the disorder have been reported on CT in adults [4– 6], but the findings are similar to those seen in our patient. Typically, there is diffuse nodular small bowel wall
332
J.P. Mazzie et al. / Journal of Clinical Imaging 27 (2003) 330–332
thickening and edema, which is the result of the dilated lymphatic channels within the villi, along with a degree of small bowel dilatation. Ascites and mesenteric edema are usually present, and pleural effusions may also be noted [3,4]. Additionally, hepatosplenomegaly are typically absent. Recently, Stevens et al. [5] described the appearance of the ‘‘halo sign’’ of the small bowel wall on CT, due to small bowel wall swelling and edema — which in and of itself is nonspecific — in a 31-year-old with a history of congenital intestinal lymphangiectasia. In the adult reports of intestinal lymphangiectasia on CT, paraaortic and mesenteric adenopathy were not identified [3 –6], and the absence of such adenopathy was considered to be helpful in excluding other conditions such as lymphoma, Whipple’s disease, celiac disease and tuberculosis, which can also produce diffuse small intestinal thickening [4– 6]. Our patient did differ from those in the other reports, in that confluent relatively low density soft-tissue masses were seen along the mesentery on CT, which could be mistaken for low density adenopathy due to other conditions (and in fact all of these masses in our patient are likely the result of lymphangiomatous replacement of lymph nodes, given their distribution along the small bowel mesentery) [4 – 6]. In a child presenting prospectively with a CT scan such as ours, celiac disease, tuberculosis (typical or atypical) and lymphoma should be considered in the differential diagnosis, as all of these diseases may cause low density abdominal adenopathy, as well as small intestinal thickening and protein losing enteropathy. In the correct clinical situation of a child with a protein-losing enteropathy without any other apparent explanation, however, the CT scan findings of diffuse and extensive small bowel edema and associated ascites and
mesenteric edema should at least strongly suggest the possibility of primary intestinal lymphangiectasia. The diagnosis should then be proven on endoscopic small bowel biopsy. CT is helpful in demonstrating the extent of disease and, in contrast to an upper gastrointestinal series, will reveal the associated ascites and mesenteric findings. CT may also demonstrate decreased small intestinal wall thickening following treatment [4]. In summary, we report the first case, to our knowledge, of the demonstration of small bowel and associated mesenteric lymphangiectasia on CT in a child. Although the diagnosis should be confirmed by an endoscopic small bowel biopsy, in our patient, the CT findings might have prospectively suggested the diagnosis and were similar to the few previously reported cases in adults, with the exception of the additional mesenteric lymphangiomas.
References [1] Bhasker M, Moses P. Intestinal lymphangiectasia. Indian Pediatr 1998;35:363 – 7. [2] Vardy PA, Lebenthal E, Shwachman H. Intestinal lymphangiectasia: a reappraisal. Pediatrics 1975;55:842 – 51. [3] Puri AS, Aggarwal R, Gupta RK, Sewatkar AB, Gambhir S, Tandon P, Chudhuri G. Intestinal lymphangiectasia: evaluation by CT and scintigraphy. Gastrointest Radiol 1992;17: 119 – 21. [4] Fakhri A, Fishman EK, Jones B, Kuhajda F, Siegelman SS. Primary intestinal lymphangiectasia: clinical and CT findings. J Comput Assist Tomogr 1985;9:767 – 70. [5] Stevens RL, Jones B, Fishman EK. The CT halo sign: a new finding in intestinal lymphangiectasia. J Comput Assist Tomogr 1997;21:1005 – 7. [6] Horton KM, Corl FM, Fishman EK. CT of non-neoplastic diseases of the small bowel: spectrum of disease. J Comput Assist Tomogr 1999; 23:417 – 28.
Congenital intestinal lymphangiectasia CT demonstration in a young child Joseph P. Mazziea,b, Peter I. Maslina,b, Libia Moyb,c, Anita P. Pricea,b, Douglas S. Katza,b,* a
Department of Radiology, Winthrop-University Hospital, Mineola, NY, USA b State University of New York at Stony Brook, Stony Brook, NY, USA c Department of Pediatrics, Winthrop-University Hospital, Mineola, NY, USA Received 18 August 2002; received in revised form 20 September 2002
Abstract There have been few reports of the CT findings of intestinal lymphangiectasia in adults, and no CT descriptions have been reported in the literature in children. We describe the CT appearance of a biopsy-proven case of primary small intestinal lymphangiectasia in a 3-year-old boy, and we will review the limited literature on the CT findings in this disorder in adults. D 2003 Elsevier Inc. All rights reserved. Keywords: Lymphangiectasia; Small bowel; Children; Computed tomography
Primary small intestinal lymphangiectasia is a rare congenital protein-losing enteropathy that is characterized pathologically by hypoplastic lymphatic vessels within the intestinal mucosa, submucosa and small bowel mesentery. Due to this functional obstruction to lymphatic flow, there is resultant dilatation of the small intestinal lymphatic channels, which causes the small bowel wall to appear thickened. Rupture of these dilated lymphatics into the small bowel lumen and occasionally into the peritoneal cavity results in hypoproteinemia, steatorrhea, lymphopenia, ascites and even pleural effusions [1– 3]. There have been only a few reports of the CT findings of intestinal lymphangiectasia — either primary or secondary — in adults and, to our knowledge, no descriptions of the CT abnormalities seen in small intestinal lymphangiectasia have been reported in the literature in children. We describe the CT appearance of a biopsy-proven case of primary small intestinal lymphangiectasia in a 3-year-old boy, and we will review the limited literature on the CT findings in this disorder in adults.
* Corresponding author. Department of Radiology, Winthrop-University Hospital, 259 First Street, Mineola, NY 11501, USA. Tel.: +1-516-6633800; fax: +1-516-663-8172. E-mail address: [email protected] (D.S. Katz). 0899-7071/03/$ – see front matter D 2003 Elsevier Inc. All rights reserved. doi:10.1016/S0899-7071(02)00588-0
1. Case report A 3-year-old boy with known small intestinal lymphangiectasia was referred to our institution for additional care and follow-up. He was born at full term in Mexico, and was well at birth without evident abnormalities. Although he gained weight appropriately, he suffered from episodes of constipation alternating with diarrhea. At 2 years of age, his mother noticed that his abdomen was becoming distended; the child was subsequently evaluated at a pediatric hospital in that country. His work-up included abdominal ultrasound and CT (which we were unable to obtain), which reportedly showed multiple soft-tissue masses in the abdominal mesentery, as well as diffuse small intestinal wall thickening and ascites. These findings were believed to be suspicious for Hodgkin’s lymphoma and, as a result, the child underwent an exploratory laparotomy. This confirmed the diffuse small intestinal thickening and multiple mesenteric masses; at surgery, the ascitic fluid was chylous in appearance. Biopsy of one of these masses revealed a lymphangioma and a sample of the ascitic fluid demonstrated lymphocytes. There was no evidence of lymphoma. A small bowel biopsy was not performed, to our knowledge. The child was placed on medium-chain triglycerides, and has been nearly completely asymptomatic. On examination at our institution, he was a healthy-appearing child with no significant findings on
J.P. Mazzie et al. / Journal of Clinical Imaging 27 (2003) 330–332
331
physical examination. His height and weight were approximately at the 75th percentile. His blood chemistries were normal, and there was no steatorrhea evident on examination of the stool. The patient was therefore continued on a semi-low fat diet, with 20% of his total caloric intake provided by medium-chain triglycerides. A CT scan was performed at our institution, to obtain a noninvasive baseline of the patient’s abnormalities (Fig. 1). This examination showed a small amount of abdominal and pelvic ascites, diffuse thickening of the entire jejunum and ileum along with mild bowel dilatation, edema in the mesentery and confluent relatively low density soft-tissue masses in the mesentery consistent with the known lymphangiomas.
2. Discussion
Fig. 1. A 3-year-old boy with relatively asymptomatic, biopsy proven congenital small intestinal and mesenteric lymphangiectasia. (A, B) Axial abdominal CT images obtained with oral and intravenous contrast show diffuse small intestinal wall thickening and mild dilatation, mesenteric edema and multiple relatively low density confluent mesenteric soft-tissue masses, which on earlier exploratory laparotomy represented lymphangiomas (arrowheads). (C) Axial CT image of pelvis shows small amount of anterior ascites (arrows).
Small intestinal lymphangiectasia was initially described in 1961 by Waldman et al. [1]. This rare disorder can either be primary, as a result of a congenital abnormality of the lymphatic system, or secondary, acquired as a result of surgical damage to the lymphatic vessels, chronic rightsided heart failure, constrictive pericarditis, retroperitoneal tumor or tuberculosis [1 –3]. Inflammatory bowel disease may also be associated with secondary intestinal lymphangiectasia. Although the majority of children with primary intestinal lymphangiectasia present within the first 2 years of life, the disorder may present at any time throughout childhood and the severity of the disease is very variable. Boys and girls are equally affected, and lymphatic abnormalities may also occur elsewhere within the body [1,2]. Intestinal lymphangiectasia has been reported to occur in families, as well as in genetic disorders such as Noonan’s syndrome [1]. The diagnosis of small intestinal lymphangiectasia should be strongly considered in any young patient who presents with peripheral edema, hypoproteinemia and lymphocytopenia that cannot be explained by hepatic or renal disease. Other signs and symptoms include vomiting, growth retardation and hypocalcemic seizures secondary to severe steatorrhea. Laboratory findings that are consistent with the diagnosis include low levels of albumin, an elevated fecal alpha antitrypsin level, reduced levels of immunoglobulins and low levels of circulating lymphocytes. An upper gastrointestinal series demonstrates nonspecific diffusely thickened mucosal folds. The mainstay of treatment for primary small intestinal lymphangiectasia is a low fat, high protein diet that is rich in medium-chain triglycerides [1 –4]. To our knowledge, the CT appearance of primary (or secondary) intestinal lymphangiectasia has not been reported in the imaging literature in children. A very small number of cases of the disorder have been reported on CT in adults [4– 6], but the findings are similar to those seen in our patient. Typically, there is diffuse nodular small bowel wall
332
J.P. Mazzie et al. / Journal of Clinical Imaging 27 (2003) 330–332
thickening and edema, which is the result of the dilated lymphatic channels within the villi, along with a degree of small bowel dilatation. Ascites and mesenteric edema are usually present, and pleural effusions may also be noted [3,4]. Additionally, hepatosplenomegaly are typically absent. Recently, Stevens et al. [5] described the appearance of the ‘‘halo sign’’ of the small bowel wall on CT, due to small bowel wall swelling and edema — which in and of itself is nonspecific — in a 31-year-old with a history of congenital intestinal lymphangiectasia. In the adult reports of intestinal lymphangiectasia on CT, paraaortic and mesenteric adenopathy were not identified [3 –6], and the absence of such adenopathy was considered to be helpful in excluding other conditions such as lymphoma, Whipple’s disease, celiac disease and tuberculosis, which can also produce diffuse small intestinal thickening [4– 6]. Our patient did differ from those in the other reports, in that confluent relatively low density soft-tissue masses were seen along the mesentery on CT, which could be mistaken for low density adenopathy due to other conditions (and in fact all of these masses in our patient are likely the result of lymphangiomatous replacement of lymph nodes, given their distribution along the small bowel mesentery) [4 – 6]. In a child presenting prospectively with a CT scan such as ours, celiac disease, tuberculosis (typical or atypical) and lymphoma should be considered in the differential diagnosis, as all of these diseases may cause low density abdominal adenopathy, as well as small intestinal thickening and protein losing enteropathy. In the correct clinical situation of a child with a protein-losing enteropathy without any other apparent explanation, however, the CT scan findings of diffuse and extensive small bowel edema and associated ascites and
mesenteric edema should at least strongly suggest the possibility of primary intestinal lymphangiectasia. The diagnosis should then be proven on endoscopic small bowel biopsy. CT is helpful in demonstrating the extent of disease and, in contrast to an upper gastrointestinal series, will reveal the associated ascites and mesenteric findings. CT may also demonstrate decreased small intestinal wall thickening following treatment [4]. In summary, we report the first case, to our knowledge, of the demonstration of small bowel and associated mesenteric lymphangiectasia on CT in a child. Although the diagnosis should be confirmed by an endoscopic small bowel biopsy, in our patient, the CT findings might have prospectively suggested the diagnosis and were similar to the few previously reported cases in adults, with the exception of the additional mesenteric lymphangiomas.
References [1] Bhasker M, Moses P. Intestinal lymphangiectasia. Indian Pediatr 1998;35:363 – 7. [2] Vardy PA, Lebenthal E, Shwachman H. Intestinal lymphangiectasia: a reappraisal. Pediatrics 1975;55:842 – 51. [3] Puri AS, Aggarwal R, Gupta RK, Sewatkar AB, Gambhir S, Tandon P, Chudhuri G. Intestinal lymphangiectasia: evaluation by CT and scintigraphy. Gastrointest Radiol 1992;17: 119 – 21. [4] Fakhri A, Fishman EK, Jones B, Kuhajda F, Siegelman SS. Primary intestinal lymphangiectasia: clinical and CT findings. J Comput Assist Tomogr 1985;9:767 – 70. [5] Stevens RL, Jones B, Fishman EK. The CT halo sign: a new finding in intestinal lymphangiectasia. J Comput Assist Tomogr 1997;21:1005 – 7. [6] Horton KM, Corl FM, Fishman EK. CT of non-neoplastic diseases of the small bowel: spectrum of disease. J Comput Assist Tomogr 1999; 23:417 – 28.