CREB-Binding Protein/genetics* ; Humans ; Lymphangiectasis, Intestinal ; Rubinstein-Taybi Syndrome/genetics*

Gastrointestinal Microbiome ; physiology ; Hemoglobins ; metabolism ; Humans ; Infant ; Lymphangiectasis, Intestinal ; diagnosis ; diet therapy ; microbiology ; Male ; Serum Albumin ; metabolism

BACKGROUND/AIMS: To investigate the various etiologies, yields, and effects of capsule endoscopy (CE) on management and complications, along with follow up of patients with obscure gastrointestinal (GI) bleeding. METHODS: The study group of patients included those having obscure, overt, or occult GI bleeding. The findings were categorized as (A) obvious/definitive, (B) equivocal, or (C) negative. Any significant alteration in patient management post CE in the form of drug or surgical intervention was noted. RESULTS: Total patients included in the study were 68 (48 males and 20 females). The ratio of male:female was 2.4:1. The age ranged between 16 years to 77 years. Mean age for males was 62+/-14 years, for females 58+/-16 years. The total yield of CE with definitive lesions was in 44/68 (65.0%) of patients. In descending order (A) angiodysplasia 16/68 (23.53%), (B) Crohn's disease 10/68 (14.70%), (C) non-steroidal anti-inflammatory drug enteropathy 8/68 (11.76%), (D) small bowel ulcers 4/68 (5.88%), (E) jejunal and ileal polyps 2/68 (2.94%), (F) intestinal lymphangiectasis 2/68 (2.94%), and (G) ileal hemangiomas 2/68 (2.94%) were followed. Equivocal findings 12/68 (17.65%) and negative study 12/68 (17.65%) was found. Complications in the form of capsule retention in the distal ileum were noted in 2/68 (2.94%) subjects. Statistically, there was a higher probability of finding the etiology if the CE was done during an episode of bleeding. CONCLUSIONS: CE plays an important role in diagnosing etiologies of obscure GI bleeding. Its role in influencing the management outcome is vital.
Angiodysplasia ; Capsule Endoscopy* ; Crohn Disease ; Diagnosis* ; Female ; Follow-Up Studies ; Hemangioma ; Hemorrhage* ; Humans ; Ileum ; Lymphangiectasis, Intestinal ; Male ; Polyps ; Ulcer

Hennekam syndrome (HS) is a rare autosomal recessive syndrome characterized by defective lymphatic development. A 34-month-old boy with HS and who had unexplained developmental retardation and hypoalbuminemia as main clinical manifestations is reported here. He had a history of generalized edema and poor feeding. He was not thriving well. He manifested as facial anomalies (hypertelorism, flat nasal bridge and flat face), fracture of teeth, and superficial lymph nodes enlargement. He had low serum total protein, low serum albumin, and low serum immunoglobulin levels. Duodenal bulb biopsy revealed lymphangiectasia. Color Doppler ultrasound, magnetic resonance imaging and CT scan showed multi-site lymphangioma, and HS was thus confirmed. Mutations in CCBE1 and FAT4 have been found responsible for the syndrome in a part of patients. Diagnosis of the disease depends on the familial history, clinical signs, pathological findings and genetic tests.
Child, Preschool ; Craniofacial Abnormalities ; diagnosis ; etiology ; therapy ; Genital Diseases, Male ; diagnosis ; etiology ; therapy ; Humans ; Lymphangiectasis, Intestinal ; diagnosis ; etiology ; therapy ; Lymphedema ; diagnosis ; etiology ; therapy ; Male ; Syndrome

Congenital pulmonary lymphangiectasia (CPL) is a rare lymphatic pulmonary abnormality. CPL with respiratory distress has a poor prognosis, and is frequently fatal in neonates. We report a case of pneumonectomy for CPL in a newborn. An infant girl, born at 39 weeks' after an uncomplicated pregnancy, exhibited respiratory distress 1 hr after birth, which necessitated intubation and aggressive ventilator care. Right pneumonectomy was performed after her symptoms worsened. Histologic examination indicated CPL. She is currently 12 months old and developing normally. Pneumonectomy can be considered for treating respiratory symptoms for improving chances of survival in cases with unilateral CPL.
Female ; Gestational Age ; Humans ; Infant, Newborn ; Lung/pathology ; Lung Diseases/*congenital/diagnosis/pathology/radiography ; Lymphangiectasis/*congenital/diagnosis/pathology/radiography ; Lymphatic Vessels/pathology ; Tomography, X-Ray Computed

Acetylcholinesterase ; analysis ; Antibodies, Monoclonal, Murine-Derived ; metabolism ; Australia ; Biopsy ; Calbindin 2 ; analysis ; Child ; Diagnosis, Differential ; Endoscopy, Gastrointestinal ; Eosinophilic Esophagitis ; pathology ; Hirschsprung Disease ; metabolism ; pathology ; Humans ; Intestinal Diseases ; pathology ; Lymphangiectasis, Intestinal ; immunology ; pathology ; Multiple Endocrine Neoplasia Type 2b ; pathology ; Nervous System Diseases ; pathology ; Quality Control

PURPOSE: In this study we investigated the histopathologic characteristics of conjunctivochalasis and its association with lymphangiectasis using impression cytology and conjunctival excisional biopsy in patients with conjunctivochalasis. METHODS: This prospective study included 14 outpatients diagnosed with conjunctivochalasis, and who had excisional biopsies performed between March 1, 2012 and November 30, 2012. Preoperative slit-lamp examination, dry eye diagnostic test and impression cytology were also performed. For histological analysis, conjunctival sections were stained with hematoxylin and eosin (H&E), Verhoeff-van Gieson (VVG) elastic staining, and monoclonal antibody D2-40, a lymphatic endothelial marker. RESULTS: Tear break-up time and Schirmer's value were decreased in patients with conjunctivochalasis. Impression cytology showed a decrease in goblet cell density and an increase in nucleoplasmic/cytoplasmic ratio. The patients' conjunctival tissues exhibited an infiltration increase of chronic inflammatory cells on H&E stain, and a decrease in collagen density with degeneration of elastic fibers on VVG stain compared to tissues from the control subjects. D2-40 immunohistochemistry revealed the dilated subconjunctival lymphatics in patients with conjunctivochalasis. CONCLUSIONS: This study suggests that the characteristic histopathological features of conjunctivochalasis include dilated lymphatic vessels as well as decreased goblet cell and collagen densities with degeneration of elastic fibers.
Antibodies, Monoclonal, Murine-Derived ; Biopsy ; Collagen ; Diagnostic Tests, Routine ; Elastic Tissue ; Eosine Yellowish-(YS) ; Eye ; Goblet Cells ; Hematoxylin ; Humans ; Immunohistochemistry ; Lymphangiectasis ; Lymphatic Vessels ; Outpatients ; Prospective Studies

Primary Intestinal lymphangiectasia (PIL) is a common cause of protein losing enteropathy (PLE). It will affect enter-hepatic circulation of lipid-soluble vitamin, and absorption of electrolytes, cause malnutrition related osteomalacia or osteoporosis. While seldom health care workers noted to assess and treat osteomalacia or osteoporosis in PIL. Here we report a related case. We found increased parathyroid hormone, decreased 25(OH)D3, low bone mineral density, which indicated that the PIL patient had osteomalacia and/or osteoporosis. Adequate calcium and vitamin D supply can relieve the condition efficaciously. We should pay attention to osteomalacia and osteoporosis in PIL patients.
Adolescent ; Female ; Humans ; Lymphangiectasis, Intestinal ; diagnosis ; Osteomalacia ; diagnosis ; Osteoporosis ; diagnosis

Female ; Humans ; Infant ; Lymphangiectasis, Intestinal ; diagnosis ; pathology ; therapy ; Male

Distended lacteals, described as expanded white villi in duodenum, are strongly indicative of primary intestinal lymphangiectasia. In the present study, we evaluated the significance of white spots present in the duodenal mucosa of dogs with lymphocytic plasmacytic enteritis (LPE). Fifty dogs with LPE were included in this study, and white spots were detected in the duodenal mucosa in 22 dogs during endoscopy. Hypoproteinemia was more frequent in dogs with white spots than in dogs without spots (p = 0.02). Serum protein and albumin concentration were significantly lower in LPE dogs with white spots (p = 0.038) compared to LPE dogs without white spots (p = 0.039). There was a significant correlation between white spots density and lymphatic dilatation histological scores (p = 0.023; rho = 0.481). These results suggest that the presence of white spots in the duodenal mucosa of dogs is not a finding exclusive for intestinal lymphangiectasia. Low serum protein and albumin concentrations together with lymphatic dilatation seem to be related to the presence of white spots in the duodenal mucosa of LPE dogs.
Animals ; Biopsy/veterinary ; Blood Proteins/metabolism ; Dog Diseases/blood/*pathology ; Dogs ; Duodenum/*pathology ; Endoscopy/veterinary ; Female ; Histocytochemistry/veterinary ; Intestinal Mucosa/*pathology ; Lymphangiectasis, Intestinal/blood/pathology/*veterinary ; Male ; Retrospective Studies ; Statistics, Nonparametric