Hennekam Lymphangiectasia Research Paper

HENNEKAM LYMPHANGIECTASIA SYNDROME
ABSTRACT
Hennekam Lymphangiectasia Syndrome is a rare autosomal recessive condition. Onset is usually in childhood. The prevalence is unknown but less than 50 cases have been reported in the literature. Incidence is about 1 in 1,00,000 and occurs in all ethnic groups. The syndrome is characterized by the association of lymphedema, intestinal lymphangiectasia, intellectual defecit and facial dysmorphism. Here is a case presented with distension of abdomen with ascites, bilateral pedal oedema, macrocephaly, left half facial edema, left half hypertrophied tongue, dental anamolies. acanthosis nigricans, acrochordons and syndactyly consistent with a diagnosis of Hennekam syndrome. The diagnosis of Hennekam is

Intestinal lymphangiectasia may be suspected by hypogammaglobulinemia, hypoalbuminemia, lymphopenia and increased alpha-1 antitrypsin excretion in the faeces[5] and can be supported by duodenal biopsy. Endoscopy shows dilated lacteals as white opaque spots, nodular lesions and xanthomatous plaques are also seen. The lesions are often patchy and localized.[5] However, several biopsies are often needed before lymphangiectasia is demonstrated. Lymphatic impairment due to malformed, hypoplastic lymphatics can be demonstrated by radionuclide lymphoscintigraphy.[5]
CASE REPORT
A 20 yr male patient presented to this hospital with a complaint of progressive distension of abdomen with ascites and bilateral non pitting type of pedal oedema. Incidentally he is the only one child to his parents of a non- consanguineous marriage with no history of radiation exposure , major illness during pregnancy or bad obstetric history. No other family members had similar phenotypic features.

Physicians need to have high degree of suspicion in patients presenting with multiple congenital anamolies involving lymphatics. Diagnosis is suspected based on classical phenotypic features. But lymphatic malformations can be demonstrated by intestinal mucosal biopsy and radionuclide