Related Experiment Video
Updated: May 28, 2026
07:36
Isolation of Human Lymphatic Endothelial Cells by Multi-parameter Fluorescence-activated Cell Sorting
Published on: May 1, 2015
Hennekam lymphangiectasia syndrome
G Lakshminarayana1, A Mathew, R Rajesh
1Department of Nephrology, Amrita Institute of Medical Sciences & Research Center, Kochi, India.
Indian Journal of Nephrology
|October 25, 2011
Summary
Hennekam lymphangiectasia syndrome, a rare disorder, was identified in an Indian patient with anodontia. This case highlights the syndrome
Area of Science:
- Genetics and rare diseases
- Pediatric medicine
- Nephrology
Background:
- Hennekam lymphangiectasia syndrome is a rare genetic disorder characterized by intestinal and renal lymphangiectasia, facial dysmorphism, and intellectual disability.
- Facial features often include hypertelorism, a broad nasal bridge, epicanthic folds, and small oral structures.
- Renal lymphangiectasia can lead to significant kidney dysfunction.
Observation:
- A multigravida patient with a history of poor obstetric outcomes presented with characteristic facial anomalies and dental abnormalities.
- Bilateral renal lymphangiectasia was diagnosed in the patient.
- The patient also exhibited anodontia, the complete absence of teeth.
Findings:
- This case represents the first documented instance of Hennekam lymphangiectasia syndrome associated with anodontia in India.
- The clinical presentation included typical facial features and renal lymphangiectasia.
- The co-occurrence of anodontia provides new insights into the phenotypic variability of the syndrome.
Implications:
- This report expands the known spectrum of Hennekam lymphangiectasia syndrome.
- It underscores the importance of thorough dental and renal evaluations in patients with suspected Hennekam lymphangiectasia syndrome.
- Further research is warranted to understand the genetic and developmental mechanisms underlying this rare association.
Related Concept Videos
01:24Nephrotic Syndrome I : Introduction
Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of fluid...
01:24Nephrotic Syndrome III : Nursing Management
Nursing management for nephrotic syndrome adapts as the disease progresses, with strategies evolving to address advancing symptoms and complications.Early-Stage Management In the early stages, nursing interventions for nephrotic syndrome resemble those used in managing acute glomerulonephritis, focusing on symptom monitoring, fluid balance, and managing mild to moderate edema.Vital Signs: Regularly monitor blood pressure, pulse, respiratory rate, and temperature to promptly identify...
01:22Portal Hypertension
Portal hypertension is an increase in blood pressure within the portal venous system. Normally, this pressure is less than 5 mmHg. It is considered clinically significant when it rises above 10 mmHg. At this threshold, complications from altered blood flow and venous congestion emerge.EtiologyPortal hypertension arises from conditions that impede blood flow through the liver. The most common cause is cirrhosis, in which chronic liver injury leads to fibrotic scarring. This fibrosis narrows or...
01:23Cirrhosis I: Introduction
Cirrhosis is a chronic, irreversible liver disease characterized by the widespread replacement of healthy liver tissue with fibrotic scar tissue and the formation of regenerative nodules.Etiology of cirrhosisCirrhosis results from sustained liver injury that triggers progressive fibrosis and structural remodeling. The underlying causes are diverse, encompassing common and less frequent clinical conditions. Regardless of the origin, all causes lead to chronic inflammation, hepatocyte loss, and...
01:28Esophageal Varices-II: Clinical Features and Management
Esophageal varices often manifest as gastrointestinal bleeding episodes, presenting symptoms like hematemesis (vomiting of blood), hematochezia (passing fresh blood via the rectum), and melena (black, tarry stools). Other signs can include weight loss, anorexia, abdominal discomfort, jaundice, pruritus, altered mental status, and muscle cramps.
In the initial assessment, a thorough review of the patient's medical history is vital to identify risk factors such as liver disease, alcohol abuse, or...
In the initial assessment, a thorough review of the patient's medical history is vital to identify risk factors such as liver disease, alcohol abuse, or...