Search results for “cerebral atrophy”

205 results found
Article

Myoclonic epilepsy with red ragged fibers (MERRF)

Myoclonic epilepsy with red ragged fibers (MERRF) is a rare multisystem mitochondrial disorder. Clinical presentation Patients usually present in late adolescence or early adulthood with 1-3 myoclonus epilepsy cerebellar ataxia intellectual disability vision and/or hearing loss cardiomyo...
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

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

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

Twin embolization syndrome

Twin embolization syndrome (TES) is a rare complication of a monozygotic twin pregnancy following an in utero demise of the co-twin. Pathology It was traditionally thought to result from the passage of thromboplastic material into the circulation of the surviving twin which causes ischemic str...
Article

Incontinentia pigmenti

Incontinentia pigmenti, also known as Bloch-Sulzberger syndrome, is a rare condition that can affect many body systems, especially the skin. As an X-linked dominant genetic disorder, it occurs much more often in females than in males. Epidemiology Incontinentia pigmenti is rare and the true pr...
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

Chronic traumatic encephalopathy

Chronic traumatic encephalopathy is a neurodegenerative tauopathy that is thought to result from mild repetitive head trauma.  Epidemiology The exact incidence and prevalence are unknown. It is most commonly seen in amateur and professional sports players where head contact is common (e.g. box...
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,...
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

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

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...

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