Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is a rare autosomal dominant disorder that caused by colony stimulating factor 1 receptor gene mutation degenerating the cerebral white matter. It characterized various symptoms such as progressive cognitive decline, personality changes, and motor disorders. Since these clinical features are not consistent, HDLS often underdiag...

Abstract Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary vascular disorder inherited in an autosomal dominant manner. MRI plays crucial role the diagnosis follow-up of patients. Characteristic lesions include symmetric bilateral white matter periventricular hyperintensities, lacunar infarcts cerebral microbleeds. In our case r...

Transthyretin amyloidosis (ATTR-amyloidosis) is a systemic disorder associated with extracellular deposition in the tissues and organs of amyloid fibrils, transthyretin-containing insoluble protein-polysaccharide complexes. The change transthyretin conformation, leading to its destabilization amyloidogenicity, can be acquired (wild type, ATTRwt) hereditary due mutations TTR gene (variant, ATTRv...

Hereditary haemorrhagic telangiectasia (Osler-Rendu-Weber syndrome) is an autosomal dominant vascular disorder, manifesting with telangiectases and bleeding in different parts of the body. We report a patient who presented with bleeding from various sites.

Introduction Fibrous dysplasia (FD) of the clivus, first described by Lichtenstein in 1938, is a very rare developmental, non-hereditary disorder caused by abnormal proliferation and maturation of fibroblasts resulting in replacement of mature bone by weak and immature bone.

mental retardation have been studied. We know of no reports of a similar syndrome of abnormalities and consider these patients to have a previously undescribed and presumably hereditary disorder.

Three unrelated Oriental Jewish families with a total of eight subjects with progressive hereditary sensory neuropathy are reported. The parents were all unaffected and because of parental consanguinity in each of the three families it is postulated that this rare neurological disorder is transmitted in an autosomal recessive manner. In one family both parents showed an abnormal response to pai...

Background: Congenital hepatic fibrosis (CHF) is an autosomal hereditary disorder affecting the porto-biliary system. It is a rare hereditary disorder often presenting in childhood or adolescence with hepatomegaly, splenomegaly, and gastrointestinal bleeding. A timely diagnosis of organomegalies by sonography can prevent esophageal varices. Liver transplantation is now the only...