Helvetica paediatrica acta · 1978
Oculocutaneous albinism associated with motor neuron disease.
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Hamel B C, Sengers R C, Stadhouders A M, Jaspar H H, Ter Laak H J, Trijbels J M, Gabreëls-Festen A W
Аннотация
The patient described is a 14-year-old girl who suffered from an oculocutaneous albinism. The developmental milestones were reached with some delay. Gradually she experienced fatiques, and wasting of the pelvic girdle muscles and weakness appeared. In suralis nerve biopsy sections no abnormalities were found. In muscle biopsy sections the characteristic findings of a primary central neuronal muscular atrophy were seen. Based on clinical and histopathological findings it may be stated that the patient is suffering from a motor neuron disease. The chance of the combined occurrence of oculocutaneous albinism and motor neuron disease can be estimated to be one out of 750 X 10(6), unless an incestuous relation is supposed.