Lymphatic edema in congenital disorders of glycosylation.

Lymphatic edema in congenital disorders of glycosylation.

2012

Verstegen RH, Theodore M, van de Klerk H, Morava E.

Source

Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

Abstract

Congenital disorders of glycosylation (CDG) are a group of metabolic disorders caused by deficient protein glycosylation. PMM2-CDG, the most common CDG, is caused by phosphomannomutase (PMM) deficiency. Clinical symptoms often include neurological involvement in addition to dysmorphic features, failure to thrive, cardiac failure, renal, and endocrine abnormalities. To our knowledge, lymphatic edema in CDG has not been reported. We present two cases of lymphatic edema in PMM2-CDG patients. The first patient was noted to have a larger right leg circumference at two years. Ultrasound investigations did not reveal any obvious vascular or lymphatic malformation. The swelling increased in size over time. At 12 years, lymphoscintigraphy revealed decreased lymphatic draining in both legs, which was more profound in the right leg. The second patient was treated for pulmonary stenosis at age 2 months. 

Postoperative, the patient suffered from protein-losing enteropathy, hypothyroidism, recurrent bacterial infections, and bilateral lymphatic edema. General condition improved after thyroxin treatment and albumin infusions; however, the bilateral pedal and leg edema remained unresolved. Contrast studies of the lymphatic system showed bilateral hypoplasia distal to the knees. Although both children had secondary factors worsening lymphatic edema in PMM2-CDG, hypoalbuminemia, recurrent infections, cardiac failure, and endocrine abnormalities could not fully explain the clinical features. The additional factors were treated successfully but the therapy did not resolve the lymphatic edema. Based on the abnormal imaging studies of the lymphatic system, we propose that lymphatic vessel hypoplasia is the major cause for lymphatic edema in our patients with PMM2-CDG.

PubMed

My Life with Lymphedema - The Real One

My Life with Lymphedema - The Real One

Please do not be misled friends,

Evidently a person with lymphedema has started a My Life with Lymphedema group elsewhere and it is NOT connected to me in any way.

What does it say about a person's moral and ethical outlook, if they feel it is ok to lie and cheat people to get readership.

Shame, shame and more shame.  

To do that against someone else with this horrid condition is totally pathetic.

This blog was the ORIGINAL, started many years before the other one was even thought of.

Pat O'Connor
Lymphedema People
My Life with Lymphedema - Blogger.com

A Mutation in VEGFC, a Ligand for VEGFR3, is Associated with Autosomal Dominant Milroy-like PrimaryLymphedema.

A Mutation in VEGFC, a Ligand for VEGFR3, is Associated with Autosomal Dominant Milroy-like Primary Lymphedema.

Feb 2013

Gordon K, Schulte D, Brice G, Simpson MA, Roukens MG, van Impel AW, Connell F, Kalidas K, Jeffery S, Mortimer PS,Mansour S, Schulte-Merker S, Ostergaard P.

Source

1Department of Clinical Sciences, St George's University of London, Cranmer Terrace, London, N/A, SW17 0RE, UNITED KINGDOM.

Abstract

Rationale: Mutations in VEGFR3 (FLT4) cause Milroy Disease (MD), an autosomal dominant condition that presents with congenital lymphedema. Mutations in VEGFR3 are identified in only 70% of patients with classic MD, suggesting genetic heterogeneity. 

Objective: To investigate the underlying cause in patients with clinical signs resembling MD in whom sequencing of the coding region of VEGFR3 did not reveal any pathogenic variation. 

Methods and Results: Exome sequencing of five such patients was performed and a novel frameshift variant, c.571_572insTT in VEGFC, a ligand for VEGFR3, was identified in one proband. The variant co-segregated with the affected status in the family. An assay to assess the biological function of VEGFC activity in vivo, by expressing human VEGFC in the zebrafish floorplate was established. Forced expression of wild type human VEGFC in the floorplate of zebrafish embryos leads to excessive sprouting in neighbouring vessels. However, when overexpressing the human c.571_572insTT variant in the floorplate, no sprouting of vessels was observed, indicating that the base changes have a marked effect on the activity of VEGFC. 

Conclusions: We propose that the mutation in VEGFC is causative for the MD-like phenotype seen in this family. This is the first time a mutation in one of the ligands of VEGFR3 has been reported to cause primary lymphedema.

PubMed

See also:  Lymphedema Gene VEGFC

Review of the 25th World Congress of the International Union of Angiology, Prague, July 1-5, 2012

Review of the 25th World Congress of the International Union of Angiology, Prague, July 1-5, 2012

2012

[Article in Russian]

[No authors listed]

Abstract

The 25th World Congress of the International Union of Angiology was held in Prague from July 1st to 5th, 2012.There were a total of 586 reports (of these, there were 430 oral presentations and 255 poster presentations, highlighting many problems in arterial pathology: optimal methods of visualization and treatment of carotid arterial therosclerosis,endovascular recanalization of intracranial arteries and hybrid interventions on carotid arteries in acute period of ischaemic stroke, management of patients with asymptomatic atherosclerosis of carotid arteries, main problems in treatment of coronary artery atherosclerosis, complications of endovascular techniques, management of patients with aneurysms of the thoracic and abdominal portions of the aorta, as well as atherosclerosis of lower limb arteries. Special attention was paid to treatment of lower limb critical ischaemia and diabetic foot syndrome, problems concerning venous thromboembolism and methods of anticoagulant therapy, as well as genetic predictors of the development of venous diseases. Other problems discussed at the Congress were as follows: methods of endovascular treatment of chronic venous insufficiency, prevention and microsurgical interventions in treatment of lymphedema, the role of endovascular techniques in correction of arteriovenous malformations, and robot-assisted surgical interventions.

PubMed

Atypical presentation of congenital yellow nail syndrome in a 2-year-old female.

Jan-Feb 2013

Cecchini M, Doumit J, Kanigsberg N.

Abstract

Background: Yellow nail syndrome (YNS) is a rare clinical entity of unknown etiology that is characterized by a triad of yellow nails, respiratory manifestations, and lymphedema. The condition appears in the mid- to later years of life and only rarely in childhood. We describe a rare case of YNS with an atypical clinical presentation consisting of only yellow and dystrophic nails in a 2-year-old female since birth.

Objective: A case of congenital YNS with only dystrophic and yellow nails is reported.Methods and 

Results: A 2-year-old female presented with yellow nails since birth. There was no positive family history. Physical examination revealed 20 thickened, dystrophic, yellow nails with onycholysis. There was no evidence of respiratory manifestations or lymphedema.

Conclusion: Although rare, YNS can present as a congenital clinical entity and persist after birth. Pediatric patients with YNS show different clinical manifestations than the classic adult patient. The presence of yellow and dystrophic nails in the absence of respiratory and lymphatic manifestations may be the only sign of pathology and warrants close monitoring as progression to more serious complications can occur.

PubMed

see also:

Yellow Nail Syndrome