Summary
This report describes a combination of spastic paraparesis and symmetrical sensory motor polyneuropathy with a pathological response to the ACTH test in the case of a 16-year-old boy and a borderline response to the ACTH test in the case of his 8-year-old sister. Another sister, aged 14, showed only a pathological response to ACTH testing, the neurological status being unremarkable. The EEG was normal in all three children examined. Visually evoked potentials were borderline in the case of the boy and normal in the case of the clinically involved sister. Although on examination by light microscopy the sural nerve proved to be normal, the clinical diagnosis of adrenomyeloneuropathy (AMN) in its juvenile form may be assumed, in view of the clinical symptoms and the evidence of adrenocortical insufficiency revealed by the ACTH test.
Zusammenfassung
Die Kombination einer spastischen Paraparese, einer symmetrischen sensomotorischen Polyneuropathie mit einem pathologischen ACTH-Test bei einem 16jährigen Buben und mit einem grenzwertigen ACTH-Test bei dessen 8jähriger Schwester wird beschrieben. Eine weitere 14jährige Schwester zeigte lediglich einen pathologischen ACTH-Test bei unauffälligem neurologischen Status. Das EEG war bei allen untersuchten Kindern normal. Die visuell evozierten Potentiale waren beim Buben grenzwertig und bei der klinisch erkrankten Schwester normal. Trotz des normalen lichtmikroskopischen Befundes aus dem Nervus suralis ist in Anbetracht der klinischen Symptomatik und des Nachweises der Nebennierenrindeninsuffizienz anhand des ACTH-Testes das Krankheitsbild einer Adrenomyeloneuropathie (AMN) mit juveniler Verlaufsform anzunehmen.
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Dedicated to Prof. Dr. W. Spiel on the occasion of his 60th birthday
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Toifl, K., Mamoli, B. & Waldhauser, F. A combination of spastic paraparesis, polyneuropathy and adrenocortical insufficiency—A childhood form of adrenomyeloneuropathy?. J Neurol 225, 47–55 (1981). https://doi.org/10.1007/BF00313461
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DOI: https://doi.org/10.1007/BF00313461