Items tagged “cases”

3,956 results found
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Murray Valley encephalitis

Murray Valley encephalitis (MVE), also known as Australian encephalitis, is one of many viral encephalitides and Flavivirus encephalitides, resulting from infection with the Murray Valley encephalitis virus. Clinical presentation Most patients have non-specific viral prodromal symptoms for app...
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Non-ketotic hyperglycaemic seizures

Non-ketotic hyperglycaemic seizures are one of the neurological complications of non-ketotic hyperglycaemia, along with non-ketotic hyperosmolar coma and non-ketotic hyperglycaemic hemichorea.  Epidemiology Seizures in the context of non-ketotic hyperglycaemia are most frequently reported in m...
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Acaeruloplasminaemia

Acaeruloplasminaemia is an autosomal recessive type of neurodegeneration with brain iron accumulation and disorder of iron metabolism caused by a mutation in the caeruloplasmin (CP) gene resulting in production of dysfunctional caeruloplasmin. Epidemiology Acaeruloplasminaemia is a very rare d...
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11-13 week antenatal scan

11-13 week antenatal scan is considered a routine investigation advised for the fetal well being as well as for early screening in pregnancy (see antenatal screening). It includes multiple components and is highly dependant on the operator. Traditionally three factors are used to calculate the ...
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Coronary arteriovenous fistula

Coronary arteriovenous fistulas (CAVFs) are rare coronary artery anomalies whereby there is a fistula between a coronary artery and, most commonly, the right side of the cardiac circulation.  Terminology Although a CAVF, in the strictest sense of the term, implies a communication between the c...
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Langerhans cell histiocytosis (CNS manifestations)

The central nervous system (CNS) is an uncommonly involved organ system in Langerhans cell histiocytosis (LCH). Involvement of the CNS is related but distinct from involvement of the skull base or craniofacial structures, which are discussed separately in the article skeletal manifestations of L...
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Asymmetric fatty bone marrow of the petrous apex

Asymmetric pneumatisation of petrous apex results in asymmetric fatty bone marrow within the petrous apex. It is a common incidental finding on brain and skull base MRI. Clinical presentation Asymptomatic. Pathology Asymmetric pneumatisation of the petrous apex results in the presence of bon...
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Small lung volume (differential diagnosis)

The following differentials can be considered when small lung volumes are seen: pulmonary fibrosis prior surgery, e.g. lobectomy, lung volume reduction surgery pleural disease skeletal deformities, e.g. kyphosis, scoliosis  systemic lupus erythematosus (SLE) neuromuscular disorders, e.g. p...
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Dorsal columns

The dorsal columns, or posterior columns, are ascending pathways primarily concerned with sensory function. They are responsible for transmitting vibration, conscious proprioception, and fine (discriminative) touch 1,2. The dorsal columns are divided two tracts, which are discussed separately 2...
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Column of Goll

The column of Goll, also known as the gracile fasciculus or fasciculus gracilis, represents the medial portion of the dorsal columns and carries input from below and including T7 1. Function The gracile fasciculus is responsible for transmitting vibration, conscious proprioception, and fine (d...
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Fusiform intracranial aneurysm

Fusiform intracranial aneurysms are a type of intracranial aneurysms with an elongated fusiform shape caused by atherosclerotic disease most common in the vertebrobasilar circulation. Epidemiology 3%-13% of all intracranial aneurysms Clinical presentation They can be incidental or asymptomat...
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RASopathies

RASopathies are a class of developmental disorders caused by germline mutations in genes that encode for components or regulators of the Ras/mitogen activated protein kinase (MAPK) pathway. Epidemiology As a group, RASopathies represent one of the most common malformation syndromes, with an in...
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Hemifacial hypertrophy

Hemifacial hyperplasia or hemifacial hypertrophy is a rare developmental anomaly characterised by asymmetric growth of hard and soft tissues of the face 1. Epidemiology These asymmetries are often noted at birth and are usually accentuated with increasing age, especially around puberty 2. The...
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Enterovirus rhomboencephalitis

Enterovirus rhomboencephalitis is the most common neurological complication of enterovirus infection 1. Clinical presentation Enterovirus rhomboencephalitis causes acute and severe neurologic disorders such as ataxia, nystagmus, oculomotor palsies, or bulbar palsy. In some cases, neurologic af...
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Minimal aortic injury

Minimal aortic injuries are traumatic aortic lesions that usually involve the intima and are recognised more frequently due to the use of high-resolution imaging. Epidemiology Minimal aortic injuries account for 10-28% of all blunt traumatic aortic injuries 1,6,7. The proportion of this type o...
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COL4A1 brain small-vessel disease

COL4A1 brain small-vessel disease is an autosomal dominant monogenic COL4A1-related disorder that primarily causes cerebral small vessel disease. Epidemiology The exact prevalence is unknown, but the condition is likely under-diagnosed. Clinical presentation The clinical presentation is vari...
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COL4A1-related disorders

COL4A1-related disorders are a group of autosomal dominant disorders caused by a mutation in the COL4A1 gene. Epidemiology The exact prevalence is unknown, but the group of disorders is considered to be under-recognised, especially asymptomatic variants 1. Clinical presentation The clinical ...
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HANAC syndrome

Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is an autosomal dominant monogenic COL4A1-related disorder. Epidemiology The exact prevalence is unknown. Clinical presentation The cardinal features of HANAC syndrome are helpfully described in the name of...
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Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic manifestations (RVCL-S) is an autosomal dominant microvasculopathy of the brain, retina, and other organ systems. Terminology RVCL-S was described by Stam and colleagues in 2016 to encompass several previously described condit...
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Intrabiliary rupture of hepatic hydatid cyst

Intrabiliary rupture of hepatic hydatid cyst is a common complication associated with hepatic hydatid cysts. It is important to appreciate the direct and indirect signs of this condition. Radiographic features The radiological features of intrabiliary rupture of a hepatic hydatid cyst can be c...

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