205 results found
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
Hurler syndrome
Hurler syndrome is one of the mucopolysaccharidoses (MPS type I).
Epidemiology
The estimated incidence is ~1:100,000.
Clinical presentation
It manifests in the first years of life with intellectual disability, corneal clouding, deafness, and cardiac disease. Death usually occurs within the f...
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
Visual agnosia
Visual agnosia is a special type of agnosia where patients are unable to recognize objects despite having knowledge about them and being able to visually perceive them.
It typically occurs when there is damage to the ventral occipitotemporal pathway, such as in posterior cerebral atrophy (Benso...
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 an incidental finding of no clinical significance. It is typically bilateral and symmetrical and may extend to involve the parietal bon...
Article
Sickle cell disease
Sickle cell disease (SCD) (historically also 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...
Article
Dementia
Dementia, relabelled major neurocognitive disorder in the Diagnostic and Statistical Manual of Mental Disorders (DSM-5), is a clinical syndrome defined by progressive decline in one or more cognitive domains relative to a person's premorbid functional level. To fulfill the criteria for dementia,...
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
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 demonstrates bone cysts.
Epidemiology
Although the exact incidence is not known, the c...
Article
Megalencephalic leukoencephalopathy with subcortical cysts
Megalencephalic leukoencephalopathy with subcortical cysts, also known as Van der Knaap disease, refers to a rare inherited autosomal recessive disease characterized by diffuse subcortical leukoencephalopathy associated with white matter cystic degeneration.
Epidemiology
The age at symptoms m...
Article
Hydrocephalus
Hydrocephalus denotes an increase in the volume of CSF, causing the distension of cerebral ventricles (ventriculomegaly) due to insufficient passage of the CSF from its point of production in the ventricles into the systemic circulation 7.
Terminology
Although hydrocephalus is typically referr...
Playlist
Evolution of cerebral infarction: oedema to laminar necrosis and haemorrhagic transformation then to atrophy
1 case
No description provided
Playlist
Evolution of cerebral infarction: oedema to laminar necrosis and haemorrhagic transformation then to atrophy
1 case
No description provided
Article
Kearns-Sayre syndrome
Kearns-Sayre syndrome (KSS), also known as oculocraniosomatic disorder, is a rare multisystem mitochondrial disorder.
Clinical presentation
The patient often presents with progressive external ophthalmoplegia 1. Neurologic symptoms develop in childhood or adolescence, usually before 20 years ...
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 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
Parry-Romberg syndrome
Parry-Romberg syndrome (PRS), also known as progressive facial hemiatrophy (PFH), is a rare progressive craniofacial disorder (phakomatosis).
It is classically characterized by a slowly progressive degeneration (atrophy) of the soft tissues of half of the face (hemifacial atrophy). This involve...
Article
Encephalocraniocutaneous lipomatosis
Encephalocraniocutaneous lipomatosis (ECCL), also known as Haberland syndrome, is a rare congenital neurocutaneous syndrome characterized by unilateral lipomas of the cranium, face, and neck, ipsilateral lipodermoids of the eye, and ipsilateral brain anomalies.
The clinical features of ECCL ove...
Article
Congenital cerebral toxoplasmosis
Congenital cerebral toxoplasmosis is a manifestation of congenital toxoplasmosis and refers to development of cerebral toxoplasmosis in the fetus through maternal transmission.
Please refer on congenital toxoplasmosis to a broad discussion on epidemiology and pathology.
Radiographic features
...
Article
Cerebrotendinous xanthomatosis
Cerebrotendinous xanthomatosis is an autosomal recessive lipid storage disorder caused by defects in sterol-27-hydroxylase enzyme in bile acid synthesis.
Clinical presentation
The clinical presentation is highly variable with many potential neurological and other/systemic clinical features 6.
...