Long-term observation of a case of organoid naevus phakomatosis (Schimmelpenning-Feuerstein-Mims syndrome)

RöFo : Fortschritte auf dem Gebiete der Röntgenstrahlen und der Nuklearmedizin
G W Schimmelpenning

Abstract

The course of an organoid naevus phakomatosis (Schimmelpenning-Feuerstein-Mims syndrome) was observed in one patient over 25 years. Although the syndrome was fully developed, it has so far remained relatively benign, without limiting the patient's ability to work. During the course of the disease various investigations were carried out (CT, brain scintigrams, chromosome analysis). These confirm that the outstanding feature consisting of fibrous bone dysplasia of the skull continues to progress into adult life. In addition, the presence of intracerebral calcification could be demonstrated. Examination of the chromosomes suggests that further similar cases should also be examined, since the aetiology and pathogenesis of this phakomatosis are still unknown.

Citations

Sep 24, 1998·Clinical Neurology and Neurosurgery·B P van de WarrenburgJ C Doelman
Oct 14, 2005·American Journal of Medical Genetics. Part a·Carrie L HeikeMichael P Whyte

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