Lymphedema–lymphangiectasia–mental retardation (Hennekam) syndrome: A review

Abstract

The Hennekam syndrome is an infrequently reported heritable entity characterized by lymphedema, lymphangiectasia, and developmental delay. Here we add an additional 8 patients, and compare their findings to the 16 cases from the literature. The lymphedema is usually congenital, can be markedly asymmetrical, and, often, gradually progressive. Complications such as erysipelas are common. The lymphangiectasias are present in the intestines, but have also been found in the pleura, pericardium, thyroid gland, and kidney. Several patients have demonstrated congenital cardiac and blood vessel anomalies, pointing to a disturbance of angiogenesis in at least some of the patients. Facial features are variable, and are chiefly characterized, in a typical patient, by a flat face, flat and broad nasal bridge, and hypertelorism. Facial features are thought to mirror the extent of intrauterine facial lymphedema, or may be caused by lymphatic obstruction that affects the early migration of neural crest tissue. Other anomalies have included glaucoma, dental anomalies, hearing loss, and renal anomalies. The psychomotor development varies widely, even within a single family, from almost normal development to severe mental retardation. Convulsions are common. The existence of 10 familial cases, equal sex ratio, increased parental consanguinity rate (4/20 families), and absence of vertical transmission are consistent with an autosomal recessive pattern of inheritance. It seems likely that most (but not all) manifestations of the entity can be explained as sequences of impaired prenatal and postnatal lymphatic flow, suggesting that the causative gene(s) should have a major function in lymphangiogenesis.

Successful pericardiectomy in Hennekam syndrome

“…[7] Yüz bulguları-nın, nöral krest dokusunun erken göçünü etkileyen lenfatik tıkanıklık sonucu oluştuğu ileri sürülmektedir. [8] İntestinal lenfanjiyektazinin eşlik ettiği olgularda hipoproteinemi, hipogamaglobulinemi ve lenfositopeni görü-lebilir. [9] Olgumuzda hipoproteinemi ve batında asit saptanmadı.…”

“…Lenfödem genellikle doğuştandır; bazen dikkat çekici şekilde tek taraflı ve genellikle ilerleyicidir. [8] Pulmoner lenfanjiyektazi varlığı hastalarda astım benzeri klinik bulgular ile ortaya çıkabilir. [6] Hastamızda da benzer şekilde tekrarlayan solunum sıkıntısı nedeniyle akut bronşiolit tedavisi uygulandığı öğrenildi.…”

A Rare Cause of Chylothorax: Hennekam Syndrome

“…Although lymphangiectasia is most commonly seen in the face, extremities, genitals and intestines, it may also be seen in the pleura, pericardium, thyroid gland and kidneys [4]. Facial anomalies include midfacial hypoplasia, broad nasal root, hypertelorism, epicanthus, long filtrum, gingival hypertrophy, small mouth and low ears.…”

“…Facial anomalies include midfacial hypoplasia, broad nasal root, hypertelorism, epicanthus, long filtrum, gingival hypertrophy, small mouth and low ears. Facial signs are suggested to result from lymphatic occlusion that affects the early migration of the neural crest tissue [4].…”

“…In the cases with recurrent gastroenteritis and respiratory tract infection, hypogammaglobulinemia is commonly seen [4]. Other findings that may be observed in HS include mild growth and developmental retardation, sensorineural or conductive hearing loss, glaucoma, atrial or ventricular septal defect, oligodontia, cryptorchidism, hydronephrosis, horseshoe kidney, vesicoureteral reflux, delayed bone age, coronal craniosynostosis, scoliosis, small hands and feet, erysipelas, hirsutism, focal parietal pachygyria, convulsions, hyperactivity and, as laboratory findings, hypoglobulinemia and hypoalbuminemia.…”