ISSN:
1432-1459
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Description / Table of Contents:
Zusammenfassung Bei einem 37jährigen Patienten mit familiärer Belastung und einem 43jährigen Patienten ohne bekannte familiäre Belastung konnte das Vorliegen einer metachromatischen Leukodystrophie klinisch ohne Hirnbiopsie gesichert werden. Es bestanden folgende progrediente Krankheitssymptome: neurasthenische Erscheinungen, langsam zunehmender Persönlichkeitsabbau, passagere psychotische Symptome, (zunächst nur) mäßig ausgeprägte neurologische Störungen (Reflexdifferenzen, leichte Tonussteigerungen und Paresen, Pyramidenbahnzeichen, cerebelläre, leichte extrapyramidale und Sprachstörungen), zunehmender dementiver Abbau. Die Gallenblasenfunktion war (im Gegensatz zur kindlichen Krankheitsform) nur in einem Fall gestört. Die motorische Nervenleitgeschwindigkeit war deutlich herabgesetzt. Die lumbale Liquoreiweißmenge bewegte sich zwischen 45 und 60 mg-%. Im Urin waren histochemisch (Kresylviolett, Trypaflavin) metachromatische Substanzen nachweisbar. Dünnschichtchromatographisch fand sich eine deutlich vermehrte Sulfatidausscheidung im Urin, außerdem lag ein Arylsulfatase A-Defekt vor. Die Diagnose konnte weiterhin durch den Nachweis metachromatischer Substanzen bei Markscheidenzerfall im peripheren Nerven nach Suralisbiopsie erhärtet werden.
Notes:
Summary Most cases of metachromatic leukodystrophy (ML) occur in early childhood. Adult cases are rarely observed and the diagnosis in most patients was established by post-mortem examination. This communication describes the diagnosis confirmed in 2 living patients. Case 1 was a 37-year-old male whose sister had suffered from ML. Case 2 was a 43-year-old male and had no apparent hereditary taint in his medical history, although there is some indication that one of his sisters may be developing the disease. The diagnosis of our 2 patients was based upon increased urinary excretion of sulfatides, storage of metachromatic substances (stained with acriflavine) in epithelial cells of the urinary sediment and deposits of sulfatides within the peripheral nerves (biopsy of n. suralis). In addition, there was a marked decline of arylsulfatase A activity in the urine. The clinical picture was unspecific in both cases. Psychiatric examination revealed neurasthenic and temporary psychotic symptoms. Neurological observation showed differences of reflexes, slight muscular rigidity and spasticity, slight pareses of the limbs, tremor, and cerebellar disturbances. Both patients exhibited a hasty, scanning and explosive speech, which seems to be characteristic of the disease. As the disease slowly progressed, these symptoms increased and some mental deterioration occurred. The EEG showed a slowing of activity, dysrhythmic and sometimes focal and paroxysmal abnormalities. Later on, typical spikes were recorded. In the pneumoencephalogram a considerable hydrocephalus internus and externus was found in both cases. The cerebrospinal fluid showed a normal or slightly raised (45–60 mg%) protein content. As described in infantile cases, evidence of decreased conduction velocity, which indicates peripheral neuropathy, is of great importance. In our cases, conduction velocity was 38–39 m/sec in the ulnar nerve and of 19–34 m/sec in the peroneal nerve. This corresponds to the marked metachromatic breakdown of myelin sheaths which was observed in the n. suralis biopsy of both cases. The function of the gall bladder was normal in case 1, but disturbed in case 2. To date 21 genuine cases of adult ML developing after the second decade of life have been described in the literature. These include both the present cases and the sister of patient 2, who already shows some early abnormalities due to the disease. Our observations suggest that ML in the adult may not be as rare as is at present supposed.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00316410
Permalink
