The Abernethy malformation is a rare congenital malformation defined by the presence of an extrahepatic portosystemic shunt. Although most patients are asymptomatic, clinical encephalopathy is present in 15% of cases. We present a patient with type 2 Abernethy malformation, hyperammonemia, and encephalopathy. Shunt closure was performed successfully using interventional angiography; however, hy...

Lymphangioma circumscriptum is a congenital lymphatic malformation that results in gradual dilatation of lymphatic vessels and development of lymphatic cisterns. The treatment of choice is radical surgery. Other treatment methods including cryotherapy, sclerosing agent injections, radiation therapy and CO2 laser were suggested. We report successful treatment of a 14-year-old boy affected with l...

Congenital anomalies and within them anatomical variations of coronary arteries, although uncommon, are being increasingly studied diagnosed due to the close relationship symptoms such as angina, dyspnea, syncope or arrhythmias in young people without comorbidities. This study aimed present case report a patient with ischemic secondary malformation artery. We describe moment admission, diagnosi...

BACKGROUND In a variety of animal species, hyperthermia in pregnancy has been recognized as teratogenic. Hyperthermia interferes with protein synthesis via heat-shock proteins, which can entail membrane disruption, cell death, vascular disruption, and placental infarction. This can induce severe fetal malformations or death. Fever during pregnancy, especially during embryogenesis, has also been...

Objective: Agenesis of the diaphragm (AD) in adults is an extremely rare congenital malformation. To date, only a few descriptions this pathology have been published scientific literature. The article presents case detection left-sided AD 25-year-old patient operated on for diaphragmatic relaxation. Additional examination methods, including echocardiography and ultrasonography abdominal organs ...

Hmx1 is a homeodomain transcription factor expressed in the developing eye, peripheral ganglia, and branchial arches of avian and mammalian embryos. Recent studies have identified a loss-of-function allele at the HMX1 locus as the causative mutation in the oculo-auricular syndrome (OAS) in humans, characterized by ear and eye malformations. The mouse dumbo (dmbo) mutation, with similar effects ...

A 65-year-old woman with a history of rheumatoid arthritis presented with a rare case of acquired Chiari malformation secondary to atlantoaxial vertical subluxation, associated with congenital atlanto-occipital assimilation. Syringomyelia and tetraparesis improved immediately after posterior fossa decompression and simultaneous occipito-cervical junction fusion. The progression of acquired Chia...

Vein of Galen abnormality is a rare congenital malformation of blood vessels of the brain and while often referred to as "Vein of Galen aneurysm" its is really not an aneurysm but usually an arteriovenous (AV) malformation. The following case report will be of interest to sonographers as it demonstrates early prenatal diagnosis of this intracranial vascular abnormality causing cardiac overload ...

BACKGROUND Intracranial arteriovenous malformation rarely causes pulmonary hypertension and congestive heart failure in the newborn. Its diagnosis is challenging because cardiomegaly may suggest an intra-cardiac structural lesion. CASE PRESENTATION We present two newborns, one 2-day-old male and the other 11-day-old female, with intracranial arteriovenous malformation and misdiagnosis of cong...

GROSS cupping of the disc which is not glaucomatous, associated with a wide scleral halo, or ring, and pigmentary disturbance has been described several times in 'the literature. Itmay be unilateral or bilateral. The visual acuity may be much or little reduced ana the field restricted or normal. Where it is unilateral the'fellow eye may be quite normal. The cup may contain a fine film of bluish...