PMID: 9542598May 30, 1998Paper

Atypical juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposit-like inclusions in the autonomic nerve cells of the gut wall

Acta Neuropathologica
L E AbergP Santavuori

Abstract

In this 8-year-old boy, who had been exposed to alcohol and oxazepam during pregnancy, visual failure was the first symptom of a neuronal ceroid lipofuscinosis (NCL) disorder, noticed at the age of 5 years. Ophthalmological examinations revealed a cystic type of macular degeneration, which would be more likely to be found in variant late infantile NCL. However, vacuolated lymphocytes were found in peripheral blood films and a diagnosis of the juvenile form of NCL (JNCL) was made. Molecular genetic studies showed the patient to be homozygous for the major mutation of JNCL, a 1.02-kb deletion. In whole-night polysomnography, there was significantly more epileptiform activity than in other JNCL patients under 10 years of age. Using magnetic resonance imaging, the signal intensity of the white matter was increased, especially in the periventricular area. In addition, there were enlarged perivascular spaces in the watershead areas. The corpus callosum was thin. Finally, in the autonomic ganglion cells of the submucosal nerve plexus there were membrane-enclosed homogeneous and granular cytosomes resembling the granular osmiophilic deposits of infantile NCL. However, extraneural cells, including blood capillaries and smooth muscle, sh...Continue Reading

Citations

Apr 19, 2011·Journal of Inherited Metabolic Disease·María-Socorro Pérez-PoyatoMercè Pineda Marfà
Mar 5, 2004·Brain Pathology·Sara E Mole
Mar 11, 2003·Human Genetics·Reijo Norio
Sep 28, 2004·Journal of Child Neurology·Jaana TyyneläSara E Mole
Apr 7, 1999·Molecular Genetics and Metabolism·O P van DiggelenY V Voznyi
Mar 9, 1999·Neurobiology of Disease·S E Mole

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Batten Disease

Batten Disease is a group of nervous system disorders known as neuronal ceroid lipofuscinosis. This feed focuses on neurobiological and neuropathological aspects of this disease.