A series of 18 patients with Jansky-Bielschowsky disease is presented. Two children only showed the classical features of the disorder, whereas the remaining 16 differed from the cases previously published in the following respects. Clinically: later onset of age, early onset of visual failure and an intermediate course of the disease. Neurophysiologically: spikes in response to intermittent stimulation appeared by the age of 7-8 years and disappeared after 11 years. The visual evoked response was extinct at an advanced stage of the disorder. Morphologically: accumulation of cytosomes with curvi-linear and fingerprint profiles in solid tissues, but lymphocytes showed no storage material. Electron microscopy of the lymphocytes revealed nothing abnormal.
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.
Forty-four patients aged from one month to 16 years suffering from arterial stroke were carefully studied for any hereditary and acquired risk factors for stroke. No physiologic anticoagulant deficiency or antiphospholipid syndrome was found. Two patients had mitochondrial disease (MELAS). Six patients had migraineous stroke. Migraine and thrombotic disease in the families of the patients were not more prevalent than in the families of the controls. Preceding infections occurred in 34% of the patients, that is, significantly more common than in the age-matched controls. Two children had borreliosis. Repeat strokes occurred particularly in patients with migraine (n = 4) and MELAS (n = 2). The hereditary factors studied here seem to play only a minor role in pediatric patients. Repeated strokes have a varied etiology and are difficult to prevent. Important triggers of strokes are infections.
A series of five patients with a variant type of Jansky-Bielschowsky disease is presented. The disease initiated between four and a half and seven years with mental and slight motor symptoms. The additional neurological symptoms and signs, i.e. visual failure, retinal degeneration, ataxia, myclonia and epilepsy developed in all children before the age of ten years. The present series differs from our previous series of 16 cases especially in regard of neurophysiological findings (photic spikes, high visual evoked potential, VEP and high somatosensory evoked potential, SEP). VEP became abnormally high between 8.0 and 9.5 years instead of being an early finding as in the previous series. Photic spikes appeared also later in the present series. Electromicroscopic investigation revealed cytosomes with fingerprint profiles (FP) in the autonomic ganglion cells and cytosomes with both FP and curvilinear (CP) profiles in many extraneural cells including smooth muscle, Schwann cells, capillary endothelium and macrophages. In the light of our 21 Finnish patients and the literature, the spectrum of Jansky-Bielschowsky disease seems to be much wider than previously assumed. The diagnosis should be based on clinical, ophthalmological, neurophysiological and ultrastructural findings. Repeated neurophysiological studies may be necessary.
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