Ultrasound guided percutaneous catheterization of the brachiocephalic vein by small caliber catheter: An alternative to epicutaneo-caval catheter in newborn and premature infants.

BACKGROUND: Umbilical Venous Catheter (UVC) and Epicutaneo-Caval Catheters (ECC) are reference catheters in the neonatal period. However, many factors such as the corpulence of neonates, poor venous capital, and anatomical variants can complicate ECC insertion or make it impossible. In newborns with failed ECC insertion, we developed an hybrid technique that combines the insertion of a long-lasting silicone or polyurethane small caliber catheter, usually used as a ECC in newborns, with the ease and speed of ultrasound guided puncture of the brachiocephalic vein (BCV). METHODS: Three years retrospective single center experience of ultrasound guided BCV insertion of silicon or polyurethane small caliber central catheter in a tertiary neonatal intensive care in case of insertion fail of ECC. RESULTS: Twenty-one echo guided BCV-ECC insertions were performed in 20 newborns. Median age was 16 days (range: 0-110 days), median weight was 1700 g (range: 605-4960 g) at insertion. In most cases, insertion was on the left side (17/21). No failures were noted. Only one attempt was necessary in all cases. Insertion time, when noted, was always of <45 min. The median duration of use of these catheters was 11 days (range 3-35 days). No complication was noted during insertion or catheter use, including catheter-related infections and thrombosis. CONCLUSION: Echo guided percutaneous catheterization of the brachiocephalic vein with a long lasting silicone or polyurethane small caliber catheter is a safe alternative to the ECC if insertion has failed. However, it requires a mastery of ultrasound-guided insertion technique in term and premature neonates.

Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C.

BACKGROUND: Terminal deletions of the long arm of chromosome 7 are well known and frequently associated with syndromic holoprosencephaly due to the involvement of the SHH (aliases HHG1, SMMCI, TPT, TPTPS, and MCOPCB5) gene region. However, interstitial deletions including CNTNAP2 (aliases Caspr2, KIAA0868, and NRXN4) and excluding the SHH region are less common. METHODS: We report the clinical and molecular characterization associated with pure 7q35 and 7q35q36.1 deletion in two unrelated patients as detected by oligonucleotide-based array-CGH analysis. RESULTS: The common clinical features were abnormal maternal serum screening during first-trimester pregnancy, low occipitofrontal circumference at birth, hypotonia, abnormal feet, developmental delay, impaired language development, generalized seizures, hyperactive behavior, friendly personality, and cranio-facial dysmorphism. Both deletions occurred de novo and sequencing of CNTNAP2, a candidate gene for epilepsy and autism showed absence of mutation on the contralateral allele. CONCLUSION: Combined haploinsufficiency of GALNTL5 (alias GalNAc-T5L), CUL1, SSPO (aliases SCO-spondin, KIAA0543, and FLJ36112), AOC1 (alias DAO), RHEB, and especially KMT2C (alias KIAA1506 and HALR) with monoallelic disruption of CNTNAP2 may explain neurologic abnormalities, hypotonia, and exostoses. Haploinsufficiency of PRKAG2 (aliases AAKG, AAKG2, H91620p, WPWS, and CMH6) and KCNH2 (aliases Kv11.1, HERG, and erg1) genes may be responsible of long QT syndrome observed for one patient.