Source

University Hospital of Leuven, Herestraat 49, 3000, Leuven, Belgium, gwendolyn.debruyn@uzleuven.be

Abstract

Keywords:  Non-immune hydrops fetalis – Pulmonary lymphangiectasia – Lymphedema syndromes – FOXC2 mutation

Non-immune hydrops fetalis may find its origin within genetically determined lymphedema syndromes, caused by mutations in FOXC2 and SOX-18. We describe a newborn girl, diagnosed with non-immune hydrops fetalis at a gestational age of 30 weeks. Family history revealed the presence of an autosomal dominant late-onset form of lymphedema of the lower limbs in her father, associated with an aberrant implantation of the eyelashes in some individuals. The newborn, hydropic girl suffered from severe pulmonary lymphangiectasia, resulting in terminal respiratory failure at the age of 3 months. Genetic analysis in both the father and the newborn girl demonstrated a heterozygous FOXC2 mutation, i.e., c.939C>A, p.Tyr313X. Her two older sisters are currently asymptomatic and the parents decided not to test them for the FOXC2 mutation. Conclusion: Patients with a mutation in the FOXC2 transcription factor usually show lower limb lymphedema with onset at or after puberty, together with distichiasis. However, the eye manifestations can be very mild and easily overlooked. The association between FOXC2 mutation and neonatal hydrops resulting in terminal respiratory failure is not reported so far. Therefore, in sporadic patients diagnosed with non-immune hydrops fetalis, lymphangiogenic genes should be systematically screened for mutations. In addition, all cases of fetal edema must prompt a thorough analysis of the familial pedigree, in order to detect familial patterns and to facilitate adequate antenatal counseling. 

 Springerlink

Source

Tak Geun Oh, Joo Won Chung, Hee Man Kim, Jung Yeob Park, Si Young Song, Division of Gastroenterology, Department of Internal Medicine, Yonsei Institute of Gastroenterology, Yonsei University College of Medicine, Seoul 120-752, South Korea.

Abstract

Keywords: Capsule endoscopy, Double balloon enteroscopy, Chromosome deletion, Chromosome 4q25, Primary intestinal lymphangiectasia

Primary intestinal lymphangiectasia (PIL) is a rare disorder characterized by dilated intestinal lymphatics and the development of protein-losing enteropathy. Patients with PIL develop hypoalbuminemia, hypocalcemia, lymphopenia and hypogammaglobulinemia, and present with bilateral lower limb edema, fatigue, abdominal pain and diarrhea. Endoscopy reveals diffusely elongated, circumferential and polypoid mucosae covered with whitish enlarged villi, all of which indicate intestinal lymphangiectasia. Diagnosis is confirmed by characteristic tissue pathology, which includes dilated intestinal lymphatics with diffusely swollen mucosa and enlarged villi. The prevalence of PIL has increased since the introduction of capsule endoscopy. The etiology and prevalence of PIL remain unknown. Some studies have reported that several genes and regulatory molecules for lymphangiogenesis are related to PIL. We report the case of a patient with PIL involving the entire small bowel that was confirmed by capsule endoscopy and double-balloon enteroscopy-guided tissue pathology who carried a deletion on chromosome 4q25. The relationship between this deletion on chromosome 4 and PIL remains to be investigated.

Source

Corneo-Plastic Unit and Eye Bank, Queen Victoria Hospital, East Grinstead, West Sussex, United Kingdom. sdaya@centreforsight.com

Abstract

PURPOSE:

To report the aid of ocular coherence tomography (OCT) in diagnosing conjunctival lymphangiectasia and correlate clinical and pathological findings.

METHODS:

Single interventional case report. A 64-year-old man presented with a 2-year history of ocular discomfort, tearing, and a gradually enlarging lesion on the conjunctiva of his left eye.

RESULTS:

Slit-lamp biomicroscopy revealed localized conjunctival swelling temporally in the left eye, with the lesion protruding between the upper and lower eyelids. Visante (Carl Zeiss-Meditec, Jena, Germany) OCT revealed clear fluid-filled spaces demarcated by septae within the elevated conjunctiva. The lesion was excised, and histopathology of the specimen showed features consistent with lymphangiectasia.

CONCLUSIONS:

OCT, a valuable tool in imaging of the anterior segment, is also useful in evaluation of conjunctival pathology.

PubMed

http://www.ncbi.nlm.nih.gov/pubmed/21795974

Source

Department of Ophthalmology, Ayr Hospital, Ayrshire and Arran National Health Service, Ayrshire, Scotland, United Kingdom.

Abstract

Key words: conjunctiva, lymphangiectasia, lymphatic vessels, chemosis, conjunctival cyst,surgical excision, amniotic membrane transplant, conjunctival autograft

Conjunctival lymphangiectasia is an uncommon clinical condition in which there is dilatation of lymphatic channels in the bulbar conjunctiva. Conjunctival lymphangiectasia is a rarely appreciated ocular surface disorder that typically occurs as a secondary phenomenon in response to local lymphatic scarring or distal obstruction. Conjunctival lymphangiectasia can either be unilateral or bilateral with focal or diffuse bulbar chemosis. We present 11 cases of biopsy-proven conjunctivallymphangiectasia. Of the 11 cases, 3 presented with bilateral diffuse bulbar chemosis, 1 had diffuse unilateral chemosis, and the remaining 7 presented with focal (<90°) bulbar chemosis. Three of these cases had co-existing pterygium, and one case presented with focal bulbar chemosis and a conjunctival keratin horn. All underwent surgical excision of the involved conjunctiva, either with no graft (n = 6), combined with amniotic membrane transplant (n = 3), or combined with conjunctival autograft (n = 2).

Elsevier - Survey of Ophthalmology

http://www.surveyophthalmol.com/article/S0039-6257(11)00174-3/abstract