Journal of Pathology and Translational Medicine

Case Report

Unilateral Pulmonary Agenesis Combined with other Unusual Anomalies: An autopsy report.: Ik Su Kim, Sang Han Lee, In Soo Shu; Korean J Pathol. 1996;30(2):166-168.

Abstract PDF: Pulmonary agenesis is a very rare anomaly. It is defined as total absence of the pulmonary parenchyma, vascular structures, and bronchi beyond the carina. We experienced a case of right pulmonary agenesis in association with other congenital defects who died at 1 day of age. The other defects included: esophageal atresia, tracheoesophageal fistula, cardiac malformation, anal atresia and a malformed left thumb. The cardiac malformations were a type of Pentalogy of Fallot, composed of right ventricular hypertrophy, ventricular septal defect, an overiding of aorta, pulmonary atresia, and an atrial septal defect. Hand roentgenograms of the malformed left thumb showed an unarticulated metacarpopharyngeal joint. This unique combination of anomalies is extremely rare.

Original Article

Body Stalk Anomaly: Analysis of 10 Autopsy Cases.: Seung Sook Lee, Je G Chi; Korean J Pathol. 1993;27(3):235-242.

Abstract PDF: Body stalk anomaly represents an extreme maldevelopment of embryonic body folding and is characterized by absence of the umbilicus and umbilical cord. The failure of complete obliteration of the extraembryonic coelom is responsible for the absence of the umbilical cord formation and the wide-based insertio of the amnioperitoneal membrane onto the placental chorionic plate. We have analyzed 10 autopsy cases of various midline anomalies of the body that could best be classified into body stalk anomaly. All cases were either stillborns or dead immediately after birth. The pregnancy was interrupted due to this anomaly in 6 cases, and their gestational ages varied from 17 weeks to 37 weeks. The affected fetuses were characterized bt absent or vestigial umbilical cord, and ruptured amnion with direct amnioperitoneal connection without the mediation of the umbilical cord. Exomphalos with abdominal wall defect and serve scoliosis were characteristic components of this anomaly, that provided important clues in differentiating other similar anomalies. Other associated anomalies included neural tube defect, intestinal atresia, genitourinary and skeletal defects, pulmonary hypoplasia, single umbilical artery and narrow-spaced chest and abdomen, etc. These findings strongly suggest that anomaly of body stalk represents mechanical teratogenesis due to early amnion repture and subsequent effect, and should be categorized into amniotic band disruption syndrome.

Case Reports

Tracheal Agenesis: Report of an autopsy case.: Kyeong Mee Park, Yoen Lim Suh, Shin Kwang Kang, Jong Guk Lee; Korean J Pathol. 1992;26(3):283-287.

Abstract PDF: Tracheal gaenesis is an extremely rare congenital anomaly and is characterized by totally or partially undeveloped trachea. In many instances, the lesion has been associated with malformations in other organ systems. This anomaly is classified into 3 types based on developmental period of the respiratory tract. We report a case of tracheal agenesis with tracheoesophageal fistula in a 2-hour-old male. Postmortem examination revealed that the upper and mid portion of the trachea was absent but 1 cm segment of the trachea above the carina was present. The proximal end to this trachea opened to the esophagus by a fistula, 1 cm in diameter. The well-formed larynx ended blindly in a fibrous sac at which thyroids and cartilage islands are noted. Associated anomalies were bilobed right lung and single umbilical artery.

Agenesis of the Dorsal Pancreas: An autopsy case.: Won Sang Park, Ki Hwa Yang, Seok Jin Kang, Byoung Kee Kim, Sun Moo Kim; Korean J Pathol. 1992;26(1):71-75.

Abstract PDF: Agenesis of the dorsal pancreas is one of the rare congenital anomalies of the pancreas. Six cases of them have been reported. We have experienced an autopsy case of agenesis of the dorsal pancreas associated with fetal death in the uterus. Grossly, the body and tail of the pancreas and uncinate process were not found and those were partially replaced by adipose tissue. No abnormality was noted in the other organs. Microscopically, pancreatic tissue with autolytic change was identified only in the head portion of the pancreas.

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