Marmara Medical Journal Volume 12 No: 2 April 1999
PHOTO QUIZ (SEE PAGE 1 09)
P r e p a r e d b yT a n g ü l Ş a n , P h . D .' / F e rih a E rca n . F h . D.* / S e r a p Ş a n lı 1*1.D . " / G ü la y A l p e r . 1*1.D . "
’ E le c t r o n M ic r o s c o p y U n it, S c h o o l o f M e d ic in e , M a rm a ra U n iv e rs ity , Is ta n b u l, T u rk e y .
** S u b - d e p a r t m e n t o f P e d ia tr ic n e u r o lo g y , S c h o o l o f M e d ic in e , M a rm a ra U n iv e r s ity , Is ta n b u l, T u rk e y .
A tw o-year-old girl w as admitted to M arm ara University Hospital, Departm ent of Pediatrics, Division of Pediatric Neurology, with severe psychomotor retardation and seizure symptoms. EE G revealed diffuse organisation disorder and hypersynchrony in the fronto-parietal region. An M R I examination w as within normal limits. Two months later she w as unable to walk.
Electron microscopical exam ination of the skin indicated the presence of specific ultrastructural profiles within the cytoplasm of the eccrine gland cells. A characteristic accumulation of osmiophilic granules in m em brane-bounded cytosom es which w ere globular and lam ellar in appearance was observed.
W hat is the most likely diagnosis of this patient?
