Atypical hemolytic uremic syndrome (aHUS) is a rare condition among thrombotic microangiopathies (TMA). Pregnancy known precipitating factor of complement mediated TMA. The occurrence microangiopathic anemia, thrombocytopenia and acute kidney injury presents diagnostic therapeutic challenges. Diverse causes include hemolysis, elevated liver enzymes, low platelets (HELLP syndrome) in pregnant wo...

A 51-year-old male patient was receiving treatment for Mycobacterium abscessus infection for approximately 10 years. However, as his condition gradually progressed to type II respiratory insufficiency, he was referred to our hospital, which was near his home. Computed tomography on his first visit revealed an abscess in the right lower lobe. Because respiratory insufficiency was evident, he was...

Sagliker syndrome is a rare form of renal osteodystrophy resulted from untreated secondary hyperparathyroidism. It is described by severe skeletal deformities, high level of PTH in patients with chronic renal failure, and deformed face. This paper reports a 44-year-old male patient with the mentioned characteristics. In addition to the unique clinical features, high levels of ALP and PTH hormon...

Triple A Syndrome is an autosomal recessive neurodegenerative disorder characterised by central and peripheral nervous system disturbances, autonomic dysfunction, alacrima, achalasia, and ACTH-resistant adrenal insufficiency (1). It results from mutations in the AAAS gene located on 12q13 which encodes the WD-repeat protein ALADIN (2) (ALacrima Achalasia aDrenal Insufficiency Neurologic disorde...

Johanson Blizzard syndrome (JBS) is a rare multi-system disorder characterized by congenital aplasia or hypoplasia of alae nasi, exocrine pancreatic insufficiency, hypothyroidism, deafness, growth retardation, varying degree of mental retardation, alopecia, wide open fontanels, anti-mongoloid slant, café-au-lait spots and absent of permanent teeth. We report a 3 months old male child having Joh...