The article makes an analysis of the surgical tactics used in 9 patients with congenital cysts of the choledochus. In 3 patients the cysts were removed, in 1 patient internal drainage of the cyst was performed, in 4 patients the cysts were excised and hepato-jejunal or hepatocholedochoduodenal anastomoses were formed. There were no lethal outcomes after the operation. Long-term results were followed-up during the period of from several months to 18 years. In none of the cases there were symptoms of cholangitis or disturbance of the bile outflow.
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QJM
January 2025
Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, 510010, China.
Background: ALG8-congenital disorder of glycosylation (ALG8-CDG) is a rare inherited metabolic disorder leading to severe multisystem manifestations, with no reported prenatal patients to date.
Methods: We describe two fetuses from a single family with ALG8-CDG presenting with prenatal hydrops, undergoing comprehensive prenatal ultrasound, umbilical cord blood biochemistry, autopsy, placental pathology, and genetic testing.
Results: Prenatal ultrasound revealed fetal hydrops, skeletal anomalies, cardiac developmental abnormalities, cataracts, echogenic kidneys and bowel, oligohydramnios, choroid plexus cysts, and intrauterine growth restriction.
Cureus
December 2024
Pharmacy, Punjab University College of Pharmacy, Lahore, PAK.
Berardinelli-Seip congenital lipodystrophy (BSCL), also known as congenital generalized lipodystrophy (CGL), is an exceptionally rare autosomal recessive disorder marked by a significant deficiency of adipose tissue throughout the body. This lack of adipose tissue, normally found beneath the skin and between internal organs, leads to impaired adipocyte formation and fat storage, causing lipids to accumulate in atypical tissues such as muscles and the liver. The extent of adipose tissue loss directly influences the severity of symptoms, which can include a muscular appearance, increased appetite, bone cysts, marrow fat depletion, acromegalic features, severe insulin resistance, skeletal muscle hypertrophy, hypertrophic cardiomyopathy, hepatic steatosis, hepatomegaly, cirrhosis, and intellectual disability.
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December 2024
Neonatology, Souss Massa University Hospital Center, Agadir, MAR.
Hydranencephaly (HE) is a severe and isolated malformation affecting the cerebral mantle. In this condition, the cerebral hemispheres are entirely or almost entirely absent, replaced by a membranous sac filled with cerebrospinal fluid, while the midbrain is usually preserved. Although HE is a relatively rare brain disorder, the differential diagnosis must include conditions such as severe hydrocephalus, porencephalic cysts, and alobar holoprosencephaly.
View Article and Find Full Text PDFMediastinum
July 2024
Department of Radiology, Inje University Sanggye Paik Hospital, Seoul, Korea.
Background: Thymic cysts can be classified as congenital or acquired. Most thymic cysts do not change in size over a short period of time. Although very rare, thymic cyst rupture is associated with serious complications, such as mediastinal hemorrhage and hemothorax.
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Radiodiagnosis, All India Institute of Medical Sciences, New Delhi, Delhi, India.
Oesophageal duplication cysts are a subtype of foregut cysts, associated with the presence of ectopic gastric mucosa. Gastric acid secreted by this mucosa can lead to complications. We report one such unusual case of complication leading to the formation of broncho-oesophageal fistula in a duplication cyst.
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