Subdural fluid collections in patients with infantile neuronal ceroid lipofuscinosis.

نویسندگان

  • Sondra W Levin
  • Eva H Baker
  • Andrea Gropman
  • Zenaide Quezado
  • Ning Miao
  • Zhongjian Zhang
  • Alice Jollands
  • Matteo Di Capua
  • Rafael Caruso
  • Anil B Mukherjee
چکیده

OBJECTIVE To describe subdural fluid collections on magnetic resonance imaging as part of the natural history of infantile neuronal ceroid lipofuscinosis. DESIGN Case series. SETTING Program on Developmental Endocrinology and Genetics, The Clinical Center, National Institutes of Health, Bethesda, Maryland. PATIENTS Patients with infantile neuronal ceroid lipofuscinosis with subdural fluid collections. MAIN OUTCOME MEASURE Neurodegeneration on magnetic resonance imaging. RESULTS During an ongoing bench-to-bedside clinical investigation, magnetic resonance imaging examinations led to the incidental discovery of subdural fluid collections in 4 of 9 patients with infantile neuronal ceroid lipofuscinosis. No particular event (such as trauma) or change in symptoms was linked to this finding, which was already in the chronic phase when discovered. Of the 4 patients, 1 was followed up for 7 years, 2 for 4 years, and 1 for 2.5 years. Over time, these collections remained stable or decreased in size. CONCLUSION Recognition that subdural fluid collections are part of the infantile neuronal ceroid lipofuscinosis disease process may obviate the necessity of additional workup as well as therapeutic interventions in these chronically sick children.

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

Classic late infantile neuronal ceroid lipofuscinosis in a Chinese patient.

Neuronal ceroid lipofuscinoses are a group of rare neurodegenerative disorders that are characterised by an accumulation of autofluorescent lipopigments in neurons and extraneuronal tissues. We report on a 4-year-old boy who presented with an acute onset of seizures followed by rapid psychomotor deterioration, ataxia, and visual failure. Photic stimulation at 1 to 3 Hz elicited discrete spike a...

متن کامل

Early differential diagnosis of infantile neuronal ceroid lipofuscinosis, Rett syndrome, and Krabbe disease by CT and MR.

PURPOSE To compare early radiologic findings in three clinically similar progressive encephalopathies of childhood. METHODS Brain CT and/or MR studies were done in 57 children 3 to 36 months of age: 16 with infantile neuronal ceroid lipofuscinosis, 5 with Rett syndrome, 6 with Krabbe disease, and 30 control subjects with normal neurologic status. In addition, previous descriptions in the lite...

متن کامل

Intraventricular enzyme replacement improves disease phenotypes in a mouse model of late infantile neuronal ceroid lipofuscinosis.

Late infantile neuronal ceroid lipofuscinosis (LINCL) is an autosomal recessive neurodegenerative disease caused by mutations in CLN2, which encodes the lysosomal protease tripeptidyl peptidase 1 (TPP1). LINCL is characterized clinically by progressive motor and cognitive decline, and premature death. Enzyme-replacement therapy (ERT) is currently available for lysosomal storage diseases affecti...

متن کامل

A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants.

Palmitoyl-protein thioesterase (PPT) deficiency was recently shown to be the primary defect in infantile neuronal ceroid lipofuscinosis (INCL). The available enzyme assay is complicated and impractical for diagnostic use and is, in practice, unavailable. We have developed a new fluorimetric assay for PPT based on the sensitive fluorochrome 4-methylumbelliferone. This PPT assay is simple, sensit...

متن کامل

Feasibility of gene therapy for late neuronal ceroid lipofuscinosis.

Late infantile neuronal ceroid lipofuscinosis is a progressive childhood neurodegenerative disorder characterized by intracellular accumulation of autofluorescent material resembling lipofuscin in neuronal cells. This report summarizes the new therapies under consideration for late infantile neuronal ceroid lipofuscinosis, with a focus on strategies for in vivo gene therapy for the retinal and ...

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:
  • Archives of neurology

دوره 66 12  شماره 

صفحات  -

تاریخ انتشار 2009