RESUMEN
Congenital disorders of glycosylation (CDG) are an extremely rapidly growing and phenotypically versatile group of disorders. Conserved oligomeric Golgi (COG) complexes are hetero-octameric proteins involved in retrograde trafficking within the Golgi. Seven of its eight subunits have a causal role in CDG. To date, only three cases of COG8-CDG have been published but none in the antenatal period. We present the first case of antenatally diagnosed COG8-CDG with facial dysmorphism and additional features such as Dandy-Walker malformation and arthrogryposis multiplex congenita, thus expanding the phenotype of this rare disorder. Trio whole exome sequencing revealed a novel homozygous variant in COG8, which creates a new splice site in exon 5 and protein truncation after 12 amino acids downstream to the newly generated splice site. As the mutations of the previous three patients were also identified in exon 5, it is likely to be a potential mutational hotspot in COG8. An association between antenatally increased nuchal translucency and COG8-CDG is also established, which would alert clinicians to its diagnosis early in gestation. It remains to be seen if this observation can be extended to other COG-CDGs.
Asunto(s)
Proteínas Adaptadoras del Transporte Vesicular/genética , Trastornos Congénitos de Glicosilación/diagnóstico , Trastornos Congénitos de Glicosilación/genética , Mutación , Fenotipo , Sitios de Empalme de ARN , Proteínas Adaptadoras del Transporte Vesicular/metabolismo , Secuencia de Bases , Exones , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Humanos , Recién Nacido , Intrones , Masculino , Radiografía , Análisis de Secuencia de ADN , Ultrasonografía PrenatalRESUMEN
BACKGROUND: Interstitial and cornual ectopic pregnancy is rare, accounting for 2-4% of ectopic pregnancies and remains the most difficult type of ectopic pregnancy to diagnose due to low sensitivity and specificity of symptoms and imaging. The classic triad of ectopic pregnancy-abdominal pain, amenorrhea and vaginal bleeding-occurs in less than 40% of patients. The site of implantation in the intrauterine portion of fallopian tube and invasion through the uterine wall make this pregnancy difficult to differentiate from an intrauterine pregnancy on ultrasound. The high mortality in this type of pregnancy is partially due to delay in diagnosis as well as the speed of hemorrhage. METHODS: Three cases of interstitial pregnancy were retrospectively analyzed. RESULT: Successful laparoscopic cornuostomy and removal of products of conception were performed in two cases, while one case was successfully managed by local injection with KCL and methotrexate followed by systemic methotrexate. CONCLUSION: Early diagnosis and timely management are key to the management of interstitial and cornual ectopic pregnancy. With expertise in ultrasound imaging and advances in laparoscopic skills progressively, conservative medical and surgical measures are being used to treat interstitial and cornual ectopic pregnancy successfully.