P02-030 - Unusual CNS manifestation

P02-030 - Unusual CNS manifestation

Introduction Cryopyrin-associated periodic syndrome (CAPS) is a rare systemic, monogenetic inherited autoinflammatory condition caused by NLRP3/CIAS 1 gene mutations encoding for cryopyrin, a major component of the inflammasome, leading to an excessive production of interleukin-1beta (IL-1ß). The clinical picture of genetic variations of the NLRP3 inflammasome is characterized by recurrent epis...

Plenary Talk P02: New directions in CNS neuronal migration

P02-032 - CAPS: a novel mutation and an unusual phenotype

Introduction Cryopyrin-associated periodic syndrome (CAPS) is an autoinflammatory syndrome caused by heterozygous mutations of CIAS1/NLRP3 gene. Affected patients may present with three different phenotypes: familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome and CINCA syndrome. Common symptoms include sporadic or cold-induced non pruritic urticarial rash and fever. Severe cas...

Severe leptospirosis with unusual manifestation.

We report a case of an 8-year-old aborigine boy referred to our hospital for respiratory insufficiency with skin eruptions over the trunk and limbs. The skin condition was diagnosed as acquired ichthyosis. He also had a non-bleeding form of disseminated intravascular coagulopathy. Radiograph of the lungs showed bilateral perihilar opacities with bilateral pleural effusion. The diagnosis of lept...

Unusual Manifestation of Extrapulmonary Tuberculosis

Though commonly encountered, extrapulmonary tuberculosis (TB) can sometimes present with variable clinical picture intricating the diagnosis (Avasthi et al., 2010). The nonspecific symptoms include pyrexia of unknown origin, hepatosplenomegaly, lymphadenopathy, meningitis, and, rarely, variety of hematological abnormalities, namely, anemia, pancytopenia, and leukemoid reaction (Avasthi et al., ...