Fig. 1
From: Long term follow-up of multiorgan disease in Kleefstra syndrome 2 in an adult – case report
Kidney biopsy (A) reveals collapsed glomerular capillary tufts associated with epithelial cell hyperplasia in keeping with focal segmental glomerular sclerosis, (B) electron microscopy reveals some degree of mild podocyte foot process effacement. There are no electron dense deposits to indicate immune complex mediated glomerular disease. Biceps brachii muscle biopsy (C) There is mild variation in fibre size. D This are no ragged red fibres or abnormal inclusions seen. is associated with the predominance of type 1 fibres associated with predominant type 2 fibre atrophy. E Myofibrillar architecture is normal. F There are no COX negative SDH positive fibers. G Sudan Black stains are normal. H A mosaic pattern of type I and II fibers is maintained. (A Masson-silver stained section, original magnification × 400, C: Hematoxylin and eosin (HE) stain, original magnification × 4; D: Gömöri-trichrome stain, original magnification × 4; E: NADH-TR stain, original magnification × 4; F: COX/SDH stain, original magnification × 4; G: Sudan black stain, original magnification × 4; H: ATPase pH9.4, original magnification × 4; C-H: scale bar 200 μm)