1/22. Familial congenital pulmonary lymphangectasia, non-immune hydrops fetalis, facial and lower limb lymphedema: confirmation of Njolstad's report.We report on four cases, three familial and one sporadic, with congenital pulmonary lymphangectasia and facial and lower limb lymphedema. hydrops fetalis was observed in three cases and death occurred in one of those. This is the third report describing inherited pulmonary lymphangectasia with a clinical phenotype very similar to that described by Njolstad et al. [1998: Eur J Pediatr 157: 498-501], who reported three sibs with non-immune hydrops fetalis (NIHF), chylothorax, pulmonary lymphangectasia, distal lymphedema, and swelling of the face. We think that the present report and that of Njolstad et al. describe a new condition very similar to Hennekam syndrome, which is characterized by autosomal recessive inheritance, intestinal lymphangiectasia, lymphedema of the lower limbs and facial anomalies (flat face, hypertelorism, flat, broad nasal bridge, lymphedema, tooth anomalies, and ear defects). Similarity with our cases and Hennekam syndrome will be discussed.- - - - - - - - - - ranking = 1keywords = hydrops, edema (Clic here for more details about this article) |
2/22. An imaging evaluation of angiodysplasia syndromes.Current imaging techniques such as magnetic resonance, magnetic resonance angiography, computer tomography, ultrasound, plain x-rays, and lymphangioscintigraphy have enhanced the ability to define blood and lymph vascular malformations in more precise pathophysiologic terms. Not only can these imaging modalities distinguish arterial anomalies from lymphatic and venous angiodysplasia, but they also readily differentiate edema in the epifascial as opposed to the subfascial peripheral compartments. Moreover, visceral lymphangiectasia (e.g., chylous and non-chylous reflux), bone and muscle overgrowth, agenesis, and fat deposits can also be delineated. Clinical examples are provided including an algorithm for approaching these conditions.- - - - - - - - - - ranking = 0.00026130467089544keywords = edema (Clic here for more details about this article) |
3/22. End-stage renal disease in a patient with congenital lymphangiectasia and lymphedema.Congenital lymphangiectasia with lymphedema is a disorder constituting the main defect in many different genetic syndromes. Herein we describe a 23-year-old male patient with congenital lymphangiectasia and severe lymphedema of the right leg, scrotum, and abdominal wall, who presented with end-stage renal disease, presumably due to cystic renal lymphangiectasia, and is undergoing chronic hemodialysis treatment.- - - - - - - - - - ranking = 0.0015678280253726keywords = edema (Clic here for more details about this article) |
4/22. lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review.The Hennekam syndrome is an infrequently reported heritable entity characterized by lymphedema, lymphangiectasia, and developmental delay. Here we add an additional 8 patients, and compare their findings to the 16 cases from the literature. The lymphedema is usually congenital, can be markedly asymmetrical, and, often, gradually progressive. Complications such as erysipelas are common. The lymphangiectasias are present in the intestines, but have also been found in the pleura, pericardium, thyroid gland, and kidney. Several patients have demonstrated congenital cardiac and blood vessel anomalies, pointing to a disturbance of angiogenesis in at least some of the patients. Facial features are variable, and are chiefly characterized, in a typical patient, by a flat face, flat and broad nasal bridge, and hypertelorism. Facial features are thought to mirror the extent of intrauterine facial lymphedema, or may be caused by lymphatic obstruction that affects the early migration of neural crest tissue. Other anomalies have included glaucoma, dental anomalies, hearing loss, and renal anomalies. The psychomotor development varies widely, even within a single family, from almost normal development to severe mental retardation. Convulsions are common. The existence of 10 familial cases, equal sex ratio, increased parental consanguinity rate (4/20 families), and absence of vertical transmission are consistent with an autosomal recessive pattern of inheritance. It seems likely that most (but not all) manifestations of the entity can be explained as sequences of impaired prenatal and postnatal lymphatic flow, suggesting that the causative gene(s) should have a major function in lymphangiogenesis.- - - - - - - - - - ranking = 0.0018291326962681keywords = edema (Clic here for more details about this article) |
5/22. drainage of subcutaneous lymphatic fluid for the management of respiratory distress in a case of generalized lymphangiectasia in an infant.A 10-month-old girl was referred to our hospital because of congenital and persistent bilateral chylothorax and generalized lymphedema as well as long-standing respiratory disturbance. Radiological studies showed a diffuse network of superficial lymphatic vessels without major trunks throughout her entire body as well as the lung. She was diagnosed with systemic lymphangiomatosis complicated with pulmonary lymphangiectasia. Percutaneous puncture in the lower leg was performed to discharge the lymphatic fluid and proved to be effective for the respiratory disturbance. This procedure is safe and easy and effectively improves the quality of life of the patient and the family in case of such a persistent disease.- - - - - - - - - - ranking = 0.00026130467089544keywords = edema (Clic here for more details about this article) |
6/22. Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia.We report a female infant with congenital lymphedema, facial anomalies, intestinal lymphangiectasia consistent with a diagnosis of Hennekam syndrome. At birth the patient presented with severe respiratory distress due to nonimmune hydrops fetalis, a congenital chylothorax (CC), and pulmonary lymphangiectasia. hydrops fetalis may be present in newborns with the Hennekam syndrome. lymphoscintigraphy can be useful in explaining pleural-pulmonary involvement of this generalized lymph vessel malformation syndrome.- - - - - - - - - - ranking = 0.99817086730373keywords = hydrops, edema (Clic here for more details about this article) |
7/22. Further delineation of Hennekam syndrome.We report four children from four inbred Arab families with varying manifestations of Hennekam syndrome and additional features that have not been previously reported. These include abnormalities of the middle ear, anomalous pulmonary venous drainage, interrupted inferior vena cava, polysplenia, crossed renal ectopia, median position of the liver and multiple cavernous haemangiomas. In addition, in one case lymphoedema was absent and oedema due to hypoproteinaemia appeared at 6 years of age. Since anomalies of the veins and the consequent developmental abnormalities of the lymphatics might lead to alterations in the fluid balance of the embryo, we hypothesize that altered fluid dynamics due to defective vascular and lymphatic development might disrupt critical events in craniofacial morphogenesis resulting in Hennekam syndrome.- - - - - - - - - - ranking = 0.00052260934179088keywords = edema (Clic here for more details about this article) |
8/22. Lipedematous scalp and lipedematous alopecia: a clinical and histologic analysis of 3 cases.BACKGROUND: Lipedematous alopecia and lipedematous scalp are two similar unusual conditions mostly affecting healthy black women. OBJECTIVE: The purpose of our study was to report three cases of this condition with emphasis on clinical and histologic findings, and to review the literature on the subject. methods: The study includes clinical, echographic, and histologic findings of 3 patients, complemented with a literature review. RESULTS: Two cases of lipedematous alopecia and one of lipedematous scalp in 3 white women had echographic confirmation of an increased subcutaneous layer. The presence of ectatic lymphatic vessels in the two cases with hair loss was particularly emphasized. CONCLUSIONS: Our findings suggest a lessened role of racial factors, but confirms the sex implications in these related conditions, and stress the potential significance of lymphangiectatic vessels in the development of alopecia in these patients.- - - - - - - - - - ranking = 0.0031356560507453keywords = edema (Clic here for more details about this article) |
9/22. Congenital pulmonary lymphangiectasia presenting as nonimmune fetal hydrops and severe respiratory distress at birth: not uniformly fatal.Pulmonary lymphangiectasia is a rare cause of respiratory distress in the newborn associated with a very poor outcome. We describe three premature newborns presenting at birth with nonimmune hydrops, bilateral chylothorax, and severe respiratory distress in the immediate newborn period secondary to pulmonary lymphangiectasia. We review the similarities of these cases and discuss their antenatal and neonatal course. One patient survived and is thriving at 9 months of age. With continuing advances in antenatal and neonatal care, an improved outcome may be possible in what was previously described as a uniformly fatal condition.- - - - - - - - - - ranking = 0.99790956263284keywords = hydrops (Clic here for more details about this article) |
10/22. Familial congenital non-immune hydrops, chylothorax, and pulmonary lymphangiectasia.Pulmonary lymphangiectasia is an uncommon congenital anomaly, and familial occurrence has rarely been reported. We report on two sibs with bilateral pleural effusion/chylothorax and hydrops who died neonatally. One sib required prenatal intrauterine hemithoracic drainage. autopsy confirmed congenital pulmonary lymphangiectasia (CPL) histologically in the first case. Hydrops, characterized as subcutaneous edema and effusions in two or more body cavities, may be due to a variety of factors, but the co-occurrence of CPL in one of these sibs, although rare, supports the notion that chylothorax and hydrops may be caused by structural lesions of lymph channels. Although most cases of CPL are sporadic, the reported sibs support autosomal recessive inheritance, with intrafamilial variability of a lymphatic disorder on a genetic basis. Mutations in vascular endothelial growth factor receptor-3 (VEGFR3) in families with Milroy disease, mutations of FOXC2 in the lymphedema-distichiasis syndrome, and fatal chylothorax in alpha9-deficient mice are potential candidate genes.- - - - - - - - - - ranking = 1.1980140845012keywords = hydrops, edema (Clic here for more details about this article) |
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