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Nadir görülen bir geç distoni nedeni: erişkin başlangıçlı metakromatik lökodistrofi (olgu sunumu)

A rare cause of late dystonia: metachromatic leukodystrophy with adulthood onset (case report)

Journal Name:

  • Gülhane Tıp Dergisi

Publication Year:

  • 2009

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Abstract (2. Language): 
Metachromatic leukodystrophy is an autosomal recessively inherited disease, which is characterized by deficiency of arylsulfatase A enzyme and diffuse symmetrical demyelinization in cerebral white matter. A 38-yearold male patient admitted with the complaints of generalized tonic clonic seizures and common involuntary contractions in the whole body, which both had started 8 years ago. Generalized dystonia was detected in the patient in whom walking and speech disturbances additionally began 3-4 months ago. Diffuse subcortical, periventricular homogenous hyperintense lesions were detected in T2-weighted axial and coronal scans in cranial magnetic resonance imaging. The diagnosis of metachromatic leukodystrophy was established with all these findings. Metachromatic leukodystrophy with adulthood onset may present with seizures and changes in personality. We would like to emphasize that metachromatic leukodystrophy, one of the metabolic diseases, may be encountered as a cause of adulthood onset dystonia by making a literature review about the diagnosis, clinical presentation and treatment choices of the disease in this paper.
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Abstract (Original Language): 
Metakromatik lökodistrofi aril sülfataz A eksikliği ile karakterize, serebral beyaz cevherde yaygın simetrik demiyelinizasyonla seyreden ve otozomal resesif geçiş gösteren bir hastalıktır. Otuz sekiz yaşında erkek hasta 8 yıl önce başlayan jeneralize tonik klonik nöbet geçirme, eş zamanlı başlayan tüm vücutta yaygın istemsiz kasılma şikayetleri ile başvurdu. Son 3-4 aydır yürümesinde dengesizlik, konuşmasında bozulma şikayetinin eklenmiş olduğu öğrenilen hastada jeneralize distoni tespit edildi. Kraniyal manyetik rezonans görüntülemede T2 ağırlıklı aksiyal ve koronal kesitlerde subkortikal, periventriküler, homojen yaygın hiperintens lezyonlar saptandı. Bu bulgularla metakromatik lökodistrofi tanısı kondu. Erişkin çağda başlayan metakromatik lökodistrofi, nöbet geçirme ve kişilik değişiklikleri ile kendini gösterebilir. Bu yazıda metakromatik lökodistrofi tanısı, klinik görünümleri ve tedavi se- çenekleriyle ilgili olarak bir literatür gözden geçirmesi yaparak, metabolik hastalıklar içinde yer alan metakromatik lökodistrofinin erişkin başlangıçlı distonilerde görülebileceğini vurgulamak istedik.
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  • 1
45-48
  • Turkish

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