hrp0086p2-p168 | Bone & Mineral Metabolism P2 | ESPE2016

A Case of Genetically Proven Carbonic Anhydrase II Deficiency

Todorova Zdravka , Stefanova Elissaveta , Kazakova Krasimira , Yordanova Desislava , Litvinenko Ivan

Background: Carbonic anhydrase II (CAII) deficiency is extremely rare (<1:1 000 000) autosomal recessive disease, which is characterized by the triad of osteopetrosis, basal ganglia calcifications and renal tubular acidosis. In addition short stature, facial dysmorfism and different degree of mental retardation are possible features. Different mutations of the gene for CAII on 8q21.2 lead to impaired enzyme activity and typical clinical, biochemical and imaging manifestati...

hrp0082p3-d1-629 | Adrenals &amp; HP Axis | ESPE2014

Clinical and Genetic Diagnosis of Allgrove Syndrome

Todorova Zdravka , Stefanova Elissaveta , Litvinenko Ivan , Kazakova Krasimira , Yaneva Penka , Yordanova Desislava , Dimitrova Mihaela

Background: Allgrove sydrome (triple A, 4 A syndrome) is a rare autosomal recessive disorder, characterized by the triad of ACTH resistant adrenal insufficiency, alacrima and achalasia. In addition many patients show progressive neurologic impairment such as progressive paripheral polyneuropathy, hyperreflexia, nasal speech and disautonomia. It is now known that mutations of the ADRACALIN (AAAS) gene on the 12q13, that encodes the protein ALADIN, are responsible for the clinic...