180 results found
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
Subdural hygroma
Subdural hygromas (alternative plural: hygromata 9) refer to the accumulation of fluid in the subdural space. In many cases, it is considered an epiphenomenon of head injury when it is called a traumatic subdural hygroma.
Epidemiology
Subdural hygromas are encountered in all age-groups but ar...
Article
Cella media index
The cella media index (also known as Schiersmann's index) is one of the methods used to assess ventricle size with respect to brain tissue and cerebral atrophy. It is the ratio of biparietal diameter of skull to maximum external diameter of bodies of the lateral ventricles (cella media) 1.
A no...
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
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
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
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
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
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.
...
Article
Sturge-Weber syndrome (mnemonic)
Some key findings pertaining to Sturge-Weber syndrome may be recalled using the following mnemonics:
STURGE CAPS
8 Cs
Mnemonics
STURGE CAPS
S: seizures, sporadic
T: tram-track gyriform calcification; trigeminal territory port-wine stain
U: unilateral weakness (hemiparesis contralateral to...
Article
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a rare inherited autosomal recessive leukodystrophy characterized by slowly progressive pyramidal, cerebellar, and dorsal column dysfunction.
Epidemiology
Although considered rare, the exact prevalen...
Article
Biotinidase deficiency
Biotinidase deficiency is a rare autosomal recessive condition in which the body is unable to break down the conjugated form of biotin (vitamin B7), resulting in low levels of bioavailable biotin, and clinical biotin deficiency.
Epidemiology
Profound deficiency (<10% of normal level) is estima...
Article
Rasmussen encephalitis
Rasmussen encephalitis, also known as chronic focal encephalitis, is a chronic inflammatory disease of unknown origin, usually affecting one brain hemisphere.
It is not to be confused with a Rasmussen aneurysm.
Epidemiology
Most cases (85% of cases) occur in children under the age of 10 years...
Article
Friedreich ataxia
Friedreich ataxia is the most common hereditary progressive ataxia.
Epidemiology
Thought to have an estimated prevalence of ~1:50,000. There is no recognized gender predilection.
Typically present in childhood to adolescence 11. Those with a higher number of trinucleotide repeats (>500) are t...
Case
Normal pressure hydrocephalus
Published
13 Feb 2015
95% complete
Annotated image
MRI
Case
Neurosyphilis
Published
18 Mar 2024
77% complete
MRI
Case
Intracranial hypotension: iatrogenic
Published
14 Feb 2016
100% complete
MRI
CT