Langer-Giedion Syndrome with 8q23.1–q24.13 Deletion by Complex Three-way Translocation

Langer-Giedion syndrome is a very rare genetic disorder that is caused by the deletion on chromosome 8q24.1, encompassing the TRPS1 and EXT1 genes. We describe a 5-month-old female patient who was admitted to our hospital with clinodactyly and weakness in both thumbs. The patient's karyotype was 46,XX,der(4)t(4;19)(q27;q11),der(8)t(4;8)(q27;q22.3),der(19)t(8;19)(q22.3;q11)del(8)(q23q24.1). Multiplex ligation-dependent probe amplification (MLPA) analysis showed that the patient had a heterozygous deletion, rsa 8q24(P064)x1 and rsa 8q24(P245)x1. Array comparative genomic hybridization (CGH) analysis further revealed three interstitial deletions spanning a total of 13.7 Mb at 8q23.1–q24.13. Based on clinical findings and confirmation by cytogenetic, MLPA, and array CGH analyses, the patient was diagnosed with sporadic Langer-Giedion syndrome with three-way translocations. This is the first case of Langer-Giedion syndrome with complex chromosomal rearrangements in Korea.

A Case of Biliary Sepsis by Dysgonomonas capnocytophagoides

Dysgonomonas capnocytophagoides is a gram-negative, facultatively anaerobic coccobacillus that was formerly designated CDC group dysgonic fermenter (DF)-3, occurring as a normal flora in human gut and rarely causing human infections such as bacteremia, abscess, diarrhea, and cholecystitis. In this study, we report a case of biliary sepsis caused by D. capnocytophagoides in a patient with biliary obstruction. A seventy four-year-old man, admitted to the hospital due to common bile-duct stone, also had cholangitis caused by D. capnocytophagoides and Enterococcus avium, which were isolated from his blood cultures. D. capnocytophagoides was initially identified as D. gadei by MALDI-TOF mass spectrometry, but later confirmed as D. capnocytophagoides by 16S rRNA gene sequencing. To the best of our knowledge, this is the first report of human infection by D. capnocytophagoides in Korea.