ISSN:
1432-1076
Keywords:
Key words Rhizomelic
;
chondrodysplasia punctata
;
Dihydroxyacetonephosphate-acyl-transferase
;
Electron microscopy
;
Peroxisomes
;
Morphometry
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract Rhizomelic chondrodysplasia punctata (RCDP) is clinically characterized by symmetrical shortening of the proximal limbs, contractures of joints, a characteristic dysmorphic face, and cataracts. In the classical form an impairment of several peroxisomal functions and enzymes (plasmalogen synthesis, phytanic acid oxidation, 3-oxoacyl-CoA thiolase) has been repeatedly shown. Recently a variant involving only the peroxisomal dihydroxyacetonephosphate acyltransferase (DHAP-AT) has been described. We present a patient with isolated DHAP-AT deficiency and all clinical, radiological, and pathological features of classical RCDP. For the first time, microscopy and immunocytochemistry of hepatocytes could be performed. Conclusion In contrast to studies on classical rhizomelic chondrodysplasia punctata which have shown enlarged peroxisomes in numbers varying from hepatocyte to hepatocyte, the peroxisomes in our patient seem to be normal in size, number and shape.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s004310050529
Permalink