The aim of this study has been to assess the clinical presentation and biochemical profile of lipoid proteinosis within a defined pedigree. Glycoprotein analysis was compared to normal values in an attempt to define a biochemical phenotype. Six affected family members were identified with variable degrees of disease expression. The most likely mode of inheritance is autosomal recessive due to c...

URBACH-WIETHE is a very rare autosomally recessive disorder characterized by infiltration of hyaline material into skin,oral cavity,larynx,and internal organs.in this report we persent a case of a 22 year old woman with small scars on her face,hoarseness,firm tongue and beaded papules along the margins of eyelids,who was referred to the deparment of ophthalmology of Kerman university No3: hospi...

OBJECTIVE To describe the unique case of a patient with panic attacks and bilateral selective amygdala lesions due to Urbach-Wiethe disease. DESIGN Case report. SETTING Epilepsy Monitoring Unit, Medical University of Vienna. Patient A 38-year-old man with Urbach-Wiethe disease developed spontaneous panic attacks and depressive mood, which ceased after antidepressive treatment. INTERVENTIO...

Working memory is a vital cognitive capacity without which meaningful thinking and logical reasoning would be impossible. Working memory is integrally dependent upon prefrontal cortex and it has been suggested that voluntary control of working memory, enabling sustained emotion inhibition, was the crucial step in the evolution of modern humans. Consistent with this, recent fMRI studies suggest ...

We report the clinical, neuroradiological, and molecular genetic findings in a patient with lipoid proteinosis or Urbach-Wiethe disease. Interestingly, in this patient epilepsy and migraine were the symptoms leading to the diagnosis of the disease, contrary to most patients in whom skin abnormalities are the first recognized symptoms.

To cite: Parida JR, Misra DP, Agarwal V. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2015212443 DESCRIPTION A 14-year-old girl was referred for skin tightening in the fingers. She did not have Raynaud’s phenomenon, gastroesophageal reflux disease or other systemic symptoms. She had had a hoarse voice since birth and was developmentally normal. She was born of ...