Other rare “orphan” diseases

• Pulmonary Alveolar Microlithiasis:
  This is very rare – there are only 50 reported cases, half of which are from Turkey. It often occurs in families and so is probably inherited. There is a chalky (snowstorm) appearance on Chest X-ray. Although some children have no symptoms, others have gradually increasing cough and breathlessness resulting in death in early adult life.

• Lymphangiomas; These are rare benign tumours of the lymphatic system, which grow very slowly and are really congenital abnormalities. Cystic hygromas are lymphatic cysts usually found in the neck.

• Cavernous haemangias are usually found within the chest wall and contain masses of small blood vessels rather than lymph vessels.

• Lymphangiomyomatosis (LAM): (See adult diseases). This is very rarely associated with Turner’s syndrome in children.

• Chlyothorax: This means lymphatic fluid around the lungs (in the pleural space). It may be congenital, either occurring alone or associated with Down, Turner, Noonan, or Yellow nail syndrome. It may be acquired in association with a disorder of the lymphatic system, trauma or a tumour.

• Lymphoid Follicular Bronchiolitis; A very rare group of diseases in which there is an overgrowth of lymph tissue around the bronchial airways. This is sometimes associated with an underlying problem with the immune system

• Pulmonary Langergans Cell Histiocytosis (Histiocytosis X); a very rare autoimmune disease in children when immune cells mistakenly attack the body and produce tumours in the lung, bone and other organs. There is an association with smoking. In children between 5-10 years, it produces progressive breathlessness. Nodules and cysts are seen throughout the lung on chest X-rays and scans. If lung cysts burst, air escapes from inside to outside the lung producing a pneumothorax.

Lung transplantation in children

Various methods of lung transplantation are used in different circumstances. These include combined heart-lung transplant, double-lung transplantation or single-lung transplantation. It is used where other treatment options have failed to stop the progression of severe lung disease, such as cystic fibrosis, idiopathic pulmonary fibrosis or primary pulmonary hypertension. Unfortunately, there is a scarcity of organs for lung transplantation.