Wilson disease
Wilson disease, also known as hepatolenticular degeneration, is a rare autosomal recessive disorder of copper metabolism affecting multiple systems.
Epidemiology
Wilson disease is commonly found in Japan. It affects 1 in 30,000-40,000 individuals . 1 in 90 individuals are a heterozygous carrier .
Clinical presentation
Clinical presentation is non-specific and varied, typically manifesting by early adulthood :
- weakening of hands and dysarthria are often the earliest symptoms
- dystonia
- pseudoparkinsonian and cerebellar symptoms
- psychiatric symptoms
- liver disease (tends to be seen in early-onset presentations)
Asymptomatic Kayser-Fleischer rings are usually seen in the cornea and are a characteristic feature .
Pathology
It is a disorder that results from abnormal ceruloplasmin metabolism, as a result of a variety of mutations in the ATP7B gene. Total body copper is elevated that has toxic effects on hepatocytes with copper deposition and resulting damage to a variety of organs, e.g. liver and brain.
Three pathways affected mostly:
- dentatorubrothalamic tract
- pontocerebellar tract
- corticospinal tract
Markers
- serum ceruloplasmin: reduced
- serum copper: reduced
- free serum copper: increased
- urinary copper: increased
Radiographic features
Please see individual articles:
- Wilson disease: hepatobiliary manifestations
- Wilson disease: CNS manifestations
- Wilson disease: musculoskeletal manifestations
Treatment and prognosis
Treatment options include chelation therapy which includes zinc, trientine, and penicillamine .
History and etymology
It was initially described by Samuel Alexander Kinnier Wilson, an American neurologist, in 1912 as "progressive lenticular degeneration" . Interestingly, Kayser-Fleischer rings were initially described a decade earlier by German physicians Bernhard Kayser and Bruno Fleischer in 1902 and 1903 respectively .
Siehe auch:
- Chondrokalzinose
- double panda sign
- Nucleus lentiformis
- hepatobiliary manifestations of Wilson disease
- quantitative susceptibility mapping for measurement of copper accumulation
- face of the giant panda sign
und weiter:
- Verkalkungen der Blase
- T2 hyperintense Basalganglien
- basal ganglia T1 hyperintensity
- animal and animal produce inspired signs
- ADC abnormality of the basal ganglia
- Hämochromatose
- bilateral middle cerebellar peduncle lesions
- chondrocalcinosis (mnemonic)
- neuroradiologisches Curriculum
- Asterixis
- Kohlenmonoxidintoxikation
- Hämosiderose
- Morbus Parkinson
- Chorea
- panda sign of the midbrain
- Kalziumpyrophosphat-Ablagerungskrankheit
- Glutarylazidurie Typ 1
- radiologisches muskuloskelettales Curriculum
- Kayser-Fleischer rings
- Speicherkrankheit
- Chorea Huntington
- Zuezler-Wilson syndrome
- hyperdense Leber
- primäre Siderose
- intracerebrale Ablagerungen von Gadolinium
- putaminal necrosis
- Morbus Wilson zerebral
- Quantifizierung Morbus Wilson
- Hämochromatose Manifestationen an der Leber