Lymphangiectasies lymphoedema type Hennekam type

Lymphangiectasies Lymphoedema Type Hennekam Type

Lymphangiectasies lymphoedema type Hennekam type, also known as Hennekam syndrome, is a rare genetic disorder characterized by a combination of lymphatic abnormalities, facial dysmorphism, and intellectual disability. This condition is named after the Dutch pediatrician R.C. Hennekam, who first described it in 1989.

Clinical Features

Individuals with Hennekam syndrome typically present with a range of clinical features, including:

• Lymphangiectasia: This refers to the dilation of lymphatic vessels, which can lead to lymph leakage and protein-losing enteropathy. It often affects the intestines, leading to gastrointestinal symptoms such as diarrhea and malabsorption.

• Lymphedema: Swelling due to lymphatic fluid accumulation, commonly affecting the limbs and sometimes the face and genitalia.

• Facial Dysmorphism: Characteristic facial features may include a flat face, hypertelorism (wide-set eyes), a broad nasal bridge, and a small mouth.

• Intellectual Disability: Varying degrees of intellectual disability are common, ranging from mild to severe.

• Other Features: Additional features may include growth retardation, skeletal anomalies, and immune system abnormalities.

Genetics

Hennekam syndrome is primarily caused by mutations in theCCBE1 gene, which plays a crucial role in the development of the lymphatic system. The condition is inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent.

Diagnosis

Diagnosis of Hennekam syndrome is based on clinical evaluation, family history, and genetic testing to identify mutations in theCCBE1 gene. Imaging studies, such as lymphoscintigraphy or MRI, may be used to assess lymphatic abnormalities.

Management

There is no cure for Hennekam syndrome, and treatment is primarily supportive and symptomatic. Management strategies may include:

• Nutritional Support: Addressing malabsorption and protein-losing enteropathy through dietary modifications and nutritional supplements.

• Compression Therapy: To manage lymphedema, compression garments or bandaging may be used.

• Physical Therapy: To improve mobility and reduce swelling.

• Educational Support: Tailored educational programs to support individuals with intellectual disabilities.

Prognosis

The prognosis for individuals with Hennekam syndrome varies depending on the severity of symptoms and the presence of complications. Early intervention and supportive care can improve quality of life and outcomes.

Also see

• Lymphedema
• Lymphatic system
• Genetic disorders
• Intellectual disability