Lymphedema Hypoparathyroidism Syndrome

At a glance

It is a rare polymalformative syndrome with lymphedema endocrine disorders, and progressive renal failure. It is characterized by a prolapse of the bicuspid aortic valve, progressive kidney failure, congenital lymphedema, hypoparathyroidism, and very short phalanges. Other features include mild facial dysmorphism, hypertrichosis, and nail abnormalities.

Synonyms

Dahlberg Borer Newcomer Syndrome; Hypoparathyroidism Lymphedema Syndrome; Dahlberg Syndrome.

Incidence

This is a very rare medical condition for which the exact incidence remains unknown. There are only very few cases reported in the literature.

Genetic inheritance

Either autosomal recessive or X-linked recessive.

Pathophysiology

It remains unknown. There are some similarities to Noonan Syndrome.

Diagnosis

Evidence of lymphedema occurring shortly after birth, together with clinical and laboratory evidence of hypoparathyroidism. Clinical, radiologic, and/or histologic evidence of nephropathy and pulmonary lymphangiectasia help in establishing the diagnosis.

Clinical aspects

Congenital lymphedema, hypoparathyroidism nephropathy, progressive renal failure, mitral valve prolapse brachytelephalangy, cataracts, broad nasal bridge, telecanthus.

Precautions before anesthesia

Echocardiography to assess cardiac function. Check electrolytes and renal function. It is very important to measure calcium level.

Anesthetic considerations

As determined by cardiac and parathyroid functions.

Pharmacological implications

No specific pharmacological implications except for patients with renal impairment.

Other conditions to be considered

• Nonne-Milroy Syndrome: Hereditary onset Type I (onset before age 35 years), congenital lymphedema, noninfectious hereditary elephantiasis. Severe swelling of the soft tissue secondary to obstruction of lymphatic drainage. Extravasation of significant amount of protein to the interstitial space, leading to stimulation of fibroblasts and development of “woody feeling”; nonpitting edema of the affected extremities.

• Meige Syndrome: Same as Nonne-Milroy Syndrome but considered the hereditary onset Type II with onset after age 35 years.

• Pulmonary Cystic Lymphangiectasis (Pulmonary Lymphangiomatosis): Characterized by a congenital pulmonary lymphangiectasis with bilateral pneumothorax. It is often complicated by the presence of chylous pleural effusions, which is associated pulmonary hypoplasia. The basic defect is not an intrinsic lung abnormality but a developmental error of the lymphatic system resulting in a pulmonary lymphatic obstruction sequence.

References