Congenital lipoid adrenal hyperplasia (lipoid CAH) is the most fatal form of CAH, as it disrupts adrenal and gonadal steroidogenesis. Most cases of lipoid CAH are caused by recessive mutations in the gene encoding steroidogenic acute regulatory protein (StAR). Affected patients typically present with signs of severe adrenal failure in early infancy and 46,XY genetic males are phenotypic females...

pulmonary alveolar proteinosis, (pap) is a rare disease of unknown etiology, characterized by accumulation of intra-alveolar proteinaceous material which is rich in lipid and positive on periodic acid-schiff stain. two clinically different pediatric types have been defined as congenital pap which is fulminant and fatal, and a late-onset pap which is similar to the adult form and less severe. ei...

Pulmonary alveolar proteinosis is a rare idiopathic lung disease characterized by the accumulation of lipoproteinaceous material within the alveoli, which impairs gas transfer and decreases the ventilation/perfusion ratio, and can lead to respiratory failure. Whole lung lavage is the most effective therapy for pulmonary alveolar proteinosis, but may not be tolerated by patients with severe resp...

Congenital lipoid adrenal hyperplasia (lipoid CAH) is the most severe form of CAH, impairing adrenal and gonadal steroidogenesis. Most cases of lipoid CAH are caused by recessive mutations in the gene encoding steroidogenic acute regulatory protein (StAR), a protein that plays an essential role in cholesterol transfer from the outer to inner mitochondrial membrane, thus providing the substrate ...

Nephrotic syndrome in minimal change lipoid nephrosis and focal segmental glomerulosclerosis may be due to alteration of glomerular anionic sites by a lymphokine. Six adults with nephrotic syndrome who were resistant to treatment with corticosteroids and immunosuppressants were treated with cyclosporin A. In three patients with minimal change lipoid nephrosis who had been nephrotic for 3.5 to 2...

Extensive pulmonary fibrosis is a rare occurrence in pulmonary alveolar proteinosis. We report 2 cases that have interesting implications. A female patient was diagnosed with autoimmune pulmonary alveolar proteinosis that evolved over 7 years into diffuse fibrosis. In a male patient with diffuse fibrosis we incidentally detected electron microscopic features of alveolar surfactant accumulation...

We are reporting, what we believe, is the first case of biopsy proven exogenous lipoid pneumonia in an Omani infant. Exogenous lipoid pneumonia is caused by aspiration of oily products .One reason is the traditional practice of giving infants oily products (Ghee) as in our patient.

BACKGROUND The congenital form of pulmonary alveolar proteinosis due to colony stimulating factor 2 receptor alpha gene mutations is a rare disease with only a few cases reported worldwide. In this study we report a new case of pulmonary alveolar proteinosis with a novel variant in colony stimulating factor 2 receptor alpha gene. CASE PRESENTATION A 5-year-old Saudi boy presented with a histo...

SINCE the original description of Tay-Sach's disease in the eighties of the last century a group of allied nervous disorders has become recognized, the common pathological feature of which is a ubiquitous distention of the nerve cells with granules of a lipoid nature. Apart from a few anomalous forms it is customary to classify these amaurotic family idiocies according to the time of onset of t...