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Neuropediatrics 2004; 35(1): 27-35
DOI: 10.1055/s-2004-815788
Original Article

Georg Thieme Verlag Stuttgart · New York

Neuroradiological Findings (MRS, MRI, SPECT) in Infantile Neuronal Ceroid-Lipofuscinosis (Infantile CLN1) at Different Stages of the Disease

S.-L. Vanhanen 1 , 2 , J. Puranen 3 , T. Autti 4 , R. Raininko 5 , K. Liewendahl 6 , P. Nikkinen 6 , P. Santavuori 2 , P. Suominen 7 , K. Vuori 4 , A.-M. Häkkinen 3
  • 1Hyvinkää Hospital Region, Hospital District of Helsinki and Uusimaa, Finland
  • 2Department of Paediatric Neurology, Hospital for Children and Adolescents, Helsinki, Finland
  • 3Department of Oncology, Helsinki University Central Hospital, Helsinki, Finland
  • 4Department of Radiology, Helsinki University Central Hospital, Helsinki, Finland
  • 5Department of Radiology, Uppsala University, Uppsala, Sweden
  • 6Laboratory Department, Division of Nuclear Medicine, Helsinki University Central Hospital, Helsinki, Finland
  • 7Department of Anaesthesia, Hospital for Children and Adolescents, Helsinki, Finland
Further Information

Publication History

Received: June 13, 2003

Accepted after Revision: November 11, 2003

Publication Date:
04 March 2004 (online)

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Abstract

Infantile neuronal ceroid-lipofuscinosis (infantile CLN1) is a progressive and uniformly fatal lysosomal storage disease of the nervous system. The purpose of this study was to compare the findings of various radiological examinations of the brain in the course of infantile CLN1 in order to evaluate the relative usefulness of the methods and their potential for monitoring therapeutic interventions. We examined eight infantile CLN1 patients, 51 studies, in various stages of the disease - preclinical to late stage - with proton magnetic resonance spectroscopy (1H-MRS), MRI, and perfusion SPECT, and in addition three benzodiazepine (BZ) receptor ligand SPECT studies. Both 1H-MRS and MRI showed abnormal findings before clinical manifestations of the disease. Cortical hypoperfusion and loss of cortical BZ receptors revealed by SPECT appeared simultaneously with clinical signs. After the age of 4 years MRI and SPECT alterations progressed minimally, whereas 1H-MRS showed progressive deterioration of neurometabolism. Of the four methods used in this study, MRI proved to be the most practicable for diagnosing infantile CLN1; the final diagnosis of infantile CLN1 is confirmed by the characteristic clinical picture and DNA or PPT enzyme analysis. The combination of 1H - MRS and MRI could be most useful for monitoring therapeutic interventions.

Key words

Infantile CLN1 - MRS - MRI - SPECT

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Dr. Sanna-Leena Vanhanen

Hyvinkää Hospital

Sairaalankatu 1

05850 Hyvinkää

Finland

Email: sanna-leena.vanhanen@hus.fi

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