Myelination arrest demonstrated using magnetic resonance imaging in a child with type I GM1 gangliosidosis.

Abstract

An 18-month-old girl was diagnosed as having GM1 gangliosidosis, on the basis of the clinical symptoms of muscle stiffness, developmental retardation, hepatosplenomegaly, and kyphoscoliosis and a laboratory study that revealed a deficiency in the lysosomal degradative enzyme beta-galactosidase. Magnetic resonance T1-weighted images showed persistent hyperintensity in the bilateral thalami, brainstem, and deep cerebellum at 14 and 18 months of age, indicating arrest of the myelination process in these areas, and that the arrest had occurred at the newborn stage. There was no myelination in the basal ganglia and diffuse leukomalacia developed in the cerebral hemispheres. Only supportive treatment was given; the patient died at 2 years of age. Myelination arrest at the newborn stage associated with progressive leukomalacia is a possible characteristic of GM1 gangliosidosis.

• Authors: W C Shen, F J Tsai, C H Tsai
• Journal: Journal of the Formosan Medical Association = Taiwan yi zhi (J Formos Med Assoc) Vol. 97 Issue 4 Pg. 296-9 (Apr 1998) ISSN: 0929-6646 [Print] Singapore
• PMID: 9585685 (Publication Type: Case Reports, Journal Article)

Topics

• Brain (pathology)
• Female
• Gangliosidosis, GM1 (pathology, physiopathology)
• Humans
• Infant
• Magnetic Resonance Imaging
• Myelin Sheath (pathology, physiology)