Search results for “cerebral atrophy”

9 results found
Article

Menkes disease

Menkes disease, also known as trichopoliodystrophy or kinky hair kinky vessel syndrome, is an X-linked recessive disorder that results in a derangement in copper handling. It results in low copper levels and subsequently, deficiency in copper-dependent mitochondrial enzymes.  Epidemiology Menk...
Article

Fucosidosis

Fucosidosis (plural: fucosidoses) is a rare inherited autosomal recessive lysosomal storage disorder, hypomyelinating disorder, and mucopolysaccharidosis-like disorder, characterized by multiorgan accumulation of fucose-containing products. Epidemiology It is considered very rare, with approxi...
Article

Cerebrotendinous xanthomatosis

Cerebrotendinous xanthomatosis is an autosomal recessive lipid storage disorder caused by defects in sterol-27-hydroxylase enzyme in bile acid synthesis. This leads to early cataract formation, atherosclerosis, hypercholesterolemia, and tendinous xanthomas.  Clinical presentation Clinically ce...
Article

Nasu Hakola disease

Nasu Hakola disease, also known as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, is a rare inherited neuropsychiatric disorder which in addition to cognitive impairment also is demonstrates bone cysts.   Epidemiology Nasu Hakola disease is inherited as an autoso...
Article

Hyperostosis frontalis interna

Hyperostosis frontalis interna is characterized by benign overgrowth of the inner table of the frontal bone. The etiology is unknown.  The condition is generally of no clinical significance and an incidental finding.  It is typically bilateral and symmetrical, and may extend to involve the parie...
Article

Scoliosis

Scoliosis is defined as an abnormal lateral curvature of the spine. It is quite common in young individuals and is often idiopathic and asymptomatic. In some cases, however, it is the result of underlying structural or neurological abnormalities.  Terminology By definition, scoliosis is any la...
Article

Anorexia nervosa

Anorexia nervosa is a psychiatric disorder characterized by distorted self-perception of body weight leading to starvation, obsession with remaining underweight, and an excessive fear of gaining weight. One in five patients with anorexia dies, due to complications of the disease. Epidemiology ...
Article

Sickle cell disease

Sickle cell disease (SCD) (historically known as drepanocytosis) is a hereditary (autosomal recessive) condition resulting in the formation of abnormal hemoglobin (a hemoglobinopathy), which manifests as multisystem ischemia and infarction, as well as hemolytic anemia.  Hemoglobin SC (HbSC) dis...
Article

Syphilis

Syphilis is the result of infection with the gram negative spirochete Treponema pallidum, subspecies pallidum. It results in a heterogeneous spectrum of disease with many systems that can potentially be involved, which are discussed separately.  Epidemiology Despite the discovery of penicillin...

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