Congenital insensitivity to pain and anhydrosis [CIPA] syndrome; a report of 4 cases

Congenital insensitivity to pain with anhidrosis [CIPA] is characterized by recurrent episodes of infections and unexplained fever, anhidrosis [inability to sweat], and absence of reaction to noxious stimuli, self-mutilating behavior, mental retardation and damages to oral structures. In this article, we have demonstrated the signs and symptoms of 4 children that refer to the pediatrics department of the Imam Khomeini hospital and assay about their complications with this disease. They mostly presented by recurrent osteomyelitis in their feet that severely controlled by antibiotic therapy and even surgery. They had no pain sensation in spite of deep sore and infection. This syndrome can be diagnosed by clinical and paraclinical tests together but it would be better to confirm by genetic test. The diagnosis of this syndrome helps us to try for the better quality of life for the patients and avoid unnecessary amputations

Comparison of early and mid-trimester amniocentesis in 1459 amniotic fluid cultures

Early amniocentesis is a new context in prenatal diagnosis. However, the consequences of this procedure are not known clearly. We compared cytogenetic results of 655 amniotic fluid samples obtained at 12-14 gestational weeks [early amniocentesis, EA] and 804 samples at 15-18 gestational weeks [mid-trimester amniocentesis, MA]. The rate of chromosomal abnormalities for early amniocentesis was 3.2% [21 cases] and for mid-trimester amniocentesis was 5.3% [43 cases] [p=0.047]. True mosaicism was seen in 2 cases MT group [p=1.000]. We did not have maternal cell contamination in either group. The ratio of repeat amniocentesis was 0.6 percent in the EA group compared with 0.2 percent in MA group [p=0.417]. Procedure-related early abortion [within the first 30 days after amniocentesis] was seen in 4 cases of EA [2.2%] and 3 cases of MA [1.5%] [p=0.719]. Hemorrhage occured in the same ratio. Intra-uterine fetal death [IUFD] was seen in 7 cases of MA, but not in any cases of EA [p=0.015]. Our findings showed comparable outcome in two method of amniocentesis, except for lower chromosomal abortion rate and IUFD