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Background: Complex Regional Pain Syndrome type I (CRPS I) is a potentially incapacitating syndrome which can occur after a minor injury or operation to a limb. It is a disorder characterized by pain, sensory and motor disturbances. CRPS I is well known in adults, but a relatively new diagnostic entity in children. The clinical presentation of CRPS I in children is, to some extent, different from adults and therefore sometimes not recognized early. The aim of this study was to search for differences in patient characteristics between children and adults with CRPS I. Methods:We have performed a retrospective chart review of 78 children (age ≤16 year) with CRPS I and compared the data with those of 951 adults with CRPS I.Results: The child population consisted predominantly of girls and older children (median age 13 years). The child population differed from adults in that the skin temperature of the involved extremity at onset was more often cooler, the lower extremity was involved more frequently and neurological and sympathetic symptoms were less pronounced.Conclusion: In several aspects, CRPS I in children has a different presentation than in adults.

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Hirschsprung disease (HSCR) is a congenital disorder characterised by intestinal obstruction due to an absence of intramural ganglia along variable lengths of the intestine. RET is the major gene involved in HSCR. Mutations in the GDNF gene, and encoding one of the RET ligands, either alone or in combination with RET mutations, can also cause HSCR, as can mutations in four other genes (EDN3, EDNRB, ECE1, and SOX10). The rare mutations in the latter four genes, however, are more or less restricted to HSCR associated with specific phenotypes. We have developed a novel comprehensive mutation detection system to analyse all but three amplicons of the RET and GDNF genes, based on denaturing gradient gel electrophoresis. We make use of two urea‐formamide gradients on top of each other, allowing mutation detection over a broad range of melting temperatures. For the three remaining (GC‐rich) PCR fragments we use a combination of DGGE and constant denaturing gel electrophoresis (CDGE). These two dual gel systems substantially facilitate mutation scanning of RET and GDNF, and may also serve as a model to develop mutation detection systems for other disease genes. In a screening of 95 HSCR patients, RET mutations were found in nine out of 17 familial cases (53%), all containing long segment HSCR. In 11 of 78 sporadic cases (14%), none had long segment HSCR. Only one GDNF mutation was found, in a sporadic case. Hum Mutat 15:418–429, 2000. © 2000 Wiley‐Liss, Inc.

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