Items tagged “cases”

3,908 results found

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...

Calcinosis circumscripta

Calcinosis circumscripta is a condition involving calcium deposition in the subcutaneous tissues, muscles and fascia. It is considered a localised form of calcinosis cutis universalis most often seen in the hands and feet. Clinical presentation Patients present with firm white dermal papules, ...

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...

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 ...

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...

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...

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...

Lateral meningocele syndrome

The lateral meningocele syndrome is an extremely rare hereditary connective tissue disorder characterized by multiple lateral lumbar meningoceles, distinctive facial features, joint hypermobility, hypotonia, skeletal abnormalities, congenital cardiovascular malformations, urogenital anomalies an...

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