Adult Onset Familial Cherry-Red Spot Myoclonus

نویسندگان

  • Chi Kyung Kim
  • Beom S. Jeon
چکیده

We report a case of a 36-year-old woman with progressive generalized myoclonus that first became apparent 9 years ago. Her younger brother had similar problems. Examination of her eyes revealed cherry-red spots. Hexosaminidase A, β-galactosidase and neuraminidase activity were normal. Although the laboratory findings were negative, cherry-red spots, progressive myoclonus and autosomal recessive inheritance pattern suggested that she had an unknown type of lysosomal storage disease.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Cherry-red spot myoclonus syndrome and alpha-neuraminidase deficiency: neurophysiological, pharmacological and biochemical study in an adult.

A 22 year old patient with non-familial progressive myoclonus, macular cherry-red spot, moderate cerebellar syndrome and normal intelligence is described. The myoclonus began at the age of 18 years. Focal myoclonus could easily be elicited by voluntary and passive movements, and by touch and electrical stimulation of median nerve. Somatosensory evoked potentials showed a high voltage early comp...

متن کامل

Typical ophthalmoscopic picture of "cherry-red spot" in an adult with the myoclonic syndrome.

THE typical ophthalmoscopic picture of a "cherry-red spot" is only one of the pathognomonic elements of infantile amaurotic idiocy, or Tay-Sachs' lipoidotic ganglioside disease (Danis, Begaux, and Decock, 1957). A similar picture was also observed in Niemann-Pick disease (sphingomyelin lipoidosis disease) in about 60 per cent. of cases (Videbaek, 1949) and even in two cases of Gaucher's cerebro...

متن کامل

Topiramate is effective for status epilepticus and seizure control in neuraminidase deficiency.

Sialidosis, a rare lysosomal storage disorder is caused by a deficiency of the enzyme α-N-acetyl neuraminidase, resulting from mutations in the NEU1 gene. Its main phenotypes are Sialidosis types I (milder form) and II (earlier onset). Sialidosis type II is characterized by developmental delay, macular cherry-red spot, visceromegaly, coarse facies, dysostosis multiplex, and myoclonus. We report...

متن کامل

Sialidosis type I: ophthalmological findings.

Sialidosis is a lysosomal storage disease caused by deficit of neuraminidase. It is an autosomal recessive disease, heterogeneous in its onset, presentation and prognosis. We report a case of a male patient with molecular and enzymatic confirmation of the diagnosis. Symptoms began at age 26 with reduced visual acuity, bilateral cherry-red spots and later myoclonus. A brother, now deceased, had ...

متن کامل

Long-term follow-up of metachronous marrow-kidney transplantation in severe type II sialidosis: what does success mean?

Sialidosis is a rare lysosomal storage disorder, characterizedbydeficient lysosomalneuraminidase (NEU1) activity and aberrant accumulation of sialylated glycoconjugates [1]. Affected sialidosis patients are divided into two groups [1,2]. Type I (normomorphic) sialidosis, an attenuated non-neuropathic form of the disease, is associated with cherry-red spot myoclonus syndrome, occurring in the se...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:

دوره 2  شماره 

صفحات  -

تاریخ انتشار 2009