Right-sided, congenital diaphragmatic hernia is not common but accounts for about 20% of all congenital diaphragmatic hernia. It sometimes has serious complications, such as intrathoracic kidney and hepatic pulmonary fusion.Here we report a rare case of right-sided diaphragmatic hernia, complicated by intrathoracic kidney and hepatic pulmonary fusion. Repair of the diaphragm via the abdominal approach was difficult and the disease recurred. The second operation was through a right thoracotomy and was successful. The biopsied specimen of the diaphragm contained hepatocytes and bile duct cells which strongly suggested the close relationship between liver and the diaphragm in this case.Right-sided, congenital diaphragmatic hernia (R-CDH) is rare compared to left-sided CDH and accounts for about 20% of the disease. R-CDH is sometimes difficult to diagnose prenatally and Duess et al. reported that prenatal diagnosis and patch closure may be risk factors for increased mortality.Furthermore, R-CDH may be complicated by some specific pathophysiological states, such as intrathoracic kidney and hepatic pulmonary fusion, which is rare but causes complicated and difficult problems for the surgical repair of the diaphragm.In this report, we describe a rare case with the combination of intrathoracic kidney and hepatic pulmonary fusion in R-CDH and discuss the etiology of the disease and surgical treatment.Correspondence to: Yutaka Kanamori, Division of Surgery, Department of Surgical Specialties, National Center for Child Health and Development, Tokyo, Jap2-10-1 Okura, Setagaya, Tokyo 157-8535, Japan, Tel; +81-3-3416-0181, Fax; +81-3-3416-2222; E-mail: kanamori-y@ncchd.go.jp. Case reportThe patient's mother was referred to our institute at 33 weeks of gestation because her baby was suspected to have a right congenital diaphragmatic hernia. Fetal ultrasonography and fetal MRI ( Figure 1a, b) were taken; R-CDH was confirmed with right intrathoracic kidney and careful follow-up was initiated. At 38 weeks and 4 days of gestational age the female patient was born at 2,780 g birth weight and intensive care was started by the neonatologists in the neonatal care unit. A plain chest X-ray showed that the right thoracic space was occupied by the right lobe of the liver and the right lung was severely compressed (Figure 1c). Ultrasound examination revealed that the right lobe of the liver was prolapsed into the right thoracic space, the hepatic veins were draining directly into the right atrium and the inferior vena cave was defective at the retro-hepatic part. The first operation was performed at 1 day old, using an abdominal approach with a right upper transverse incision. The ventral rim of the diaphragm was formed by muscle but the postero-lateral rim was composed of a very thin membrane. This part of the membrane was biopsied, the right lobe of the liver was maneuvered into the abdominal cavity and the membranous diaphragm was taken in by non-absorbable sutures. The severe pulmonary hypertension gradually subsided but art...
Bone dysplasias are individually rare but collectively common. The prenatal diagnosis of bone dysplasias, especially perinatally lethal dysplasias, is of major interest to obstetric services. The current nosology of genetic skeletal disorders addresses over 400 disorders. However, in clinical practice, we encounter only a limited number of disorders, such as FGFR3-related dysplasias, osteogenesis imperfecta, and type II collagenopathies. The recent development of non-invasive prenatal genetic testing using cell-free fetal DNA in maternal blood samples has had a major impact on the prenatal diagnosis of genetic diseases. However, imaging examinations remain critical for the final diagnosis of bone dysplasias because molecular testing only shows genetic variants, and not their pathogenicity – most variants are clinically insignificant. Bone dysplasias are typically suspected when limb shortening is identified by screening ultrasound. Further assessment can be followed by more detailed ultrasound, magnetic resonance imaging (MRI), and CT. Based on these data, rational decision-making is feasible, even when the definitive prenatal diagnosis is not feasible. Here, we highlight key images of common bone dysplasias obtained by currently available modalities.
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