Adhesive strapping represents a promising treatment for umbilical hernia. To achieve the best results, adhesive strapping should be initiated as early as possible.
Costello syndrome (CS) is an autosomal-dominant disorder characterized by distinctive facial features, hypertrophic cardiomyopathy, skeletal abnormalities, intellectual disability, and predisposition to cancers. Germline variants in HRAS have been identified in patients with CS. Intragenic HRAS duplications have been reported in three patients with a milder phenotype of CS. In this study, we identified two known HRAS variants, p.(Glu63_Asp69dup), p.(Glu62_Arg68dup), and one novel HRAS variant, p.(Ile55_Asp57dup), in patients with CS, including a patient with craniosynostosis. These intragenic duplications are located in the G3 domain and the switch II region. Cells expressing cDNA with these three intragenic duplications showed an increase in ELK-1 transactivation. Injection of wild-type or mutant HRAS mRNAs with intragenic duplications in zebrafish embryos showed significant elongation of the yolk at 11 h postfertilization, which was improved by MEK inhibitor treatment, and a variety of developmental abnormalities at 3 days post fertilization was observed. These results indicate that small in-frame duplications affecting the G3 domain and switch II region of HRAS increase the activation of the ERK pathway, resulting in developmental abnormalities in zebrafish or patients with CS.
Background 22q11.2 deletion syndrome (22qDS) is the most common chromosomal microdeletion syndrome and is associated with a high rate of congenital heart disease (CHD) and neurodevelopmental abnormalities. Congenital portosystemic venous shunts (CPSS) are rare developmental abnormalities of the portal venous system. The clinical manifestations of CPSS are varied, and some patients have CHD or genetic chromosomal abnormalities, but their relationship remains unknown. We report the first case of CPSS associated with 22qDS. Case presentation A newborn boy referred to our institution was diagnosed with 22qDS due to characteristic facial features and complications of tetralogy of Fallot. A subsequent newborn screening test indicated hypergalactosemia and high blood levels of ammonia and bile acids. Upon closer examination, these abnormalities were found to be caused by the CPSS. Abdominal contrast-enhanced computed tomography and angiography confirmed that abnormal blood vessels ascended from the splenic vein and short-circuited to the left renal vein. Intracardiac repair for CHD was performed at 1 year of age, followed by transcatheter occlusion of the CPSS using a multilayer device (vascular plug) and detachable coil at 2 years of age. After treatment, the abnormal blood parameters promptly normalized. Conclusions As the blood flow of CPSS bypasses the liver, the levels of galactose, bile acids, and ammonia in the systemic veins can increase. Some patients with CPSS have CHD, and these toxic substances may cause liver and lung lesions as well as portosystemic encephalopathy (PSE). Several genetic chromosomal abnormalities, including 22qDS, and CPSS have similar symptoms, and neurodevelopmental abnormalities, particularly those caused by PSE, may be difficult to diagnose. Blood tests, such as newborn screening, and abdominal imaging are useful in the early diagnosis of CPSS.
Spontaneous spinal epidural hematoma (SSEH) is considered to be a relatively rare disease that can result in serious neurological sequelae. The pathogenesis and risk factors of SSEH are still unknown, and its differential diagnosis varies widely. Misdiagnosis with more common conditions such as stroke or aortic syndromes can occur. We report the case of a 27-year-old man who developed sudden upper back pain with no specific precipitant. Five days later, he visited our emergency department complaining of weakness in both lower limbs and dysuria. He had a history of intracardiac repair and a Blalock-Park procedure for an interrupted aortic arch and ventricular septal defect in infancy. Additionally, he had undergone an aortic root dilatation and aortic valve replacement at the age of 10 because of progression of aortic and supra-aortic stenosis and had received chronic anticoagulation and antiplatelet therapy with warfarin and aspirin, respectively. An emergency spine magnetic resonance imaging scan indicated a mass at the Th3-Th5 level with severe compression of the dural sac and the spinal cord. Emergency excision showed a spinal epidural hematoma. Mild postoperative gait disturbance and dysuria persisted, requiring rehabilitation and intermittent self-urethral catheterization. As patients with adult congenital heart disease have an increased risk of bleeding, they may be at risk of developing SSEH. However, this is the first report to describe such an association.
Tetralogy of Fallot (ToF) is the most common cyanotic congenital heart disease. Cyanotic spells occur more frequently after infancy in unrepaired cases. Acute esophageal necrosis (AEN) is a rare disease that causes circumferential mucosal necrosis in the distal esophagus. We report the case of a 26-year-old man who was admitted due to coffee-ground emesis, black stools, and decreased oxygen saturations. The patient had an unrepaired ToF and a congenital portosystemic venous shunt. An upper gastrointestinal endoscopy revealed AEN, which could be due to unstable hemodynamics of cyanotic spells. This is the first adult case presenting these 2 conditions occurring simultaneously.
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