8 results found
Article
Alpers syndrome
Alpers syndrome, also known as Alpers-Huttenlocher syndrome or progressive cerebral poliodystrophy, is a rare childhood neurodegenerative POLG-related disorder. Along with Leigh syndrome, it is one of the commonest childhood mitochondrial disorders 1.
Epidemiology
Alpers syndrome is incredibl...
Article
Hemorrhagic shock and encephalopathy syndrome
Hemorrhagic shock and encephalopathy syndrome (HSES) is a rare pediatric encephalopathy syndrome with a high mortality rate.
Epidemiology
Hemorrhagic shock and encephalopathy syndrome is considered rare, although the exact global incidence and prevalence is not known. The condition occurs in i...
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...
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
T...
Article
Kwashiorkor
Kwashiorkor is a condition characterized by bilateral edema caused by protein deficiency.
Epidemiology
The largest population at risk for the condition are children who have begun weaning from breast milk or formula towards diets without sufficient protein. Therefore, kwashiorkor often affects...
Article
Fucosidosis
Fucosidosis 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 approximately only 100 cases ...
Article
CEC syndrome
CEC syndrome, also known as Gobbi syndrome, refers to the combination of celiac disease, epilepsy and bilateral occipital calcifications. Patients with cerebral calcifications and celiac disease without epilepsy are considered as having an incomplete form of CEC syndrome 1.
Epidemiology
Most c...
Article
Celiac disease
Celiac disease, also known as non-tropical sprue, is the most common gluten-related disorder and is a T-cell mediated autoimmune chronic gluten intolerance condition characterized by a loss of villi in the proximal small bowel and gastrointestinal malabsorption (sprue).
It should always be cons...
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