Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience.

Background: In GM1 gangliosidosis the lack of function of β-galactosidase results in an accumulation of GM1 ganglioside and related glycoconjugates in visceral organs, and particularly in the central nervous system, leading to severe disability and premature death. In the type 2 form of the disease, early intervention would be important to avoid precocious complications. To date, there are no effective therapeutic options in preventing progressive neurological deterioration.

Pleural loculated empyema masking a CPAM 3 in a newborn infant: A case report with breef literature review.

Congenital pulmonary airway malformations (CPAMs) are a heterogeneous group of hamartomatous cystic and noncystic lung lesions that result from early airway maldevelopment. Usually they are distinguished according to Stocker's classification in type 0, 1, 2, 3 and 4. We present the case of a 2 weeks old baby who was admitted to hospital with RDS symptoms and left pleural effusion: X rays and CT were suggestive for a pulmonary cystic lesion with pleural complications.

Lymphatic Malformation in Newborns as the First Sign of Diffuse Lymphangiomatosis: Successful Treatment with Sirolimus.

Cystic hygroma and lymphangioma, currently defined as 'lymphatic malformations', are developmental abnormalities of the lymphoid system with potential for rapid expansion. The management of these abnormalities depends on the site and extent of the lesion. A different disease is diffuse lymphangiomatosis.