1/19. Lipoid proteinosis of the larynx.Lipoid proteinosis is a rare disease that presents with hyaline deposits in many tissues. It involves predominantly the skin and upper aerodigestive tract, presenting with small yellowish papules and hoarseness. It may involve the central nervous system and cause intracerebral calcifications. Laryngeal lesions may resemble singer's nodule or chronic laryngitis. The pathogenesis of the disease is not clear although several studies suggest a defective collagen production and/or lysosomal storage disease. In this article two cases with skin and larynx involvement are reported.- - - - - - - - - - ranking = 1keywords = nervous system (Clic here for more details about this article) |
2/19. Ophthalmo-acromelic syndrome in a Turkish infant: case report.Ophthalmo-acromelic syndrome (OAS) is an extremely rare autosomal recessive disorder characterised by eye malformations ranging from true anophthalmia to mild microophthalmia and acromelic malformations. In this article, we report a newborn infant with OAS because of its rare presentation. He was the fourth sibling affected in the family. The parents were healthy but there was a close blood relationship between the parents. physical examination revealed bilateral true anophthalmia and oligodactyly (bilateral four toes) on the feet. He had no other additional abnormalities. We consider that this rare syndrome could be relatively more common in our country because six Turkish cases of OAS have been reported in the English literature to date.- - - - - - - - - - ranking = 3.8182048578324keywords = malformation (Clic here for more details about this article) |
3/19. livedo reticularis in a child with moyamoya disease.moyamoya disease is a rare, chronic cerebrovascular occlusive disease of unknown etiology. It is characterized by progressive stenosis of the arteries of the circle of willis leading to an abnormal capillary network and resultant ischemic strokes or cerebral hemorrhages. The association of moyamoya disease with livedo reticularis has been described in a previously reported patient with a factor v Leiden mutation, leading to hypercoagulation. We describe a girl with livedo reticularis and moyamoya disease with extensive cardiovascular malformations, but without a primary coagulopathy.- - - - - - - - - - ranking = 1.9091024289162keywords = malformation (Clic here for more details about this article) |
4/19. Report of a Turkish child with Sjoren-Larsson syndrome associated with peripheral nerve involvement.Sjoren-Larsson syndrome is a rare hereditary neurocutaneous disorder characterized by ichthyosis, spastic di- or tetra-plegia, and mild to moderate mental retardation. In this article, we present a nine-year-old girl with the classical features of the syndrome associated with peripheral nerve involvement because of its rare presentation. To the best of our knowledge, only three cases of Sjoren-Larsson syndrome with peripheral nerve involvement have been previously reported in the literature. We assume that Sjoren-Larsson syndrome involves extensive disorders of the ectodermal tissues, including the peripheral nerves as well as the skin and the central nervous system.- - - - - - - - - - ranking = 1keywords = nervous system (Clic here for more details about this article) |
5/19. Tuberculous otitis media with mastoiditis and central nervous system involvement.tuberculosis of the middle ear and mastoid is currently a rare disease in developed countries, but this disease still occurs and may cause serious consequences. We report a case of disseminated tuberculosis involving the middle ear, mastoid, lung and central nervous system. tuberculosis should be considered in the differential diagnosis of chronic ear drainage, especially in young children.- - - - - - - - - - ranking = 5keywords = nervous system (Clic here for more details about this article) |
6/19. Asymptomatic isolated congenital left ventricular muscular diverticulum in an adult: a case report.Congenital ventricular diverticulum is a very rare malformation in adults. We describe a 21-year-old male with a congenital muscular left ventricular diverticulum in the inferior wall. The lesion was suspected on two-dimensional transthoracic echocardiography; transesophageal echocardiography allowed clear detection of the diverticulum as well of mild mitral valve prolapse. The diagnosis was confirmed by cardiac catheterization. There were no other thoracoabdominal or cardiac anomalies, the patient was asymptomatic, and surgery was not deemed necessary.- - - - - - - - - - ranking = 1.9091024289162keywords = malformation (Clic here for more details about this article) |
7/19. Uncommon presentation and surgical correction of unroofed coronary sinus syndrome.A 59-year-old man with signs and symptoms of congestive heart failure, occurring a few months after an infective episode, underwent cardiac investigations revealing severe biventricular dysfunction, persistent left superior vena cava with almost completely unroofed coronary sinus, and critical stenosis of the proximal right coronary artery. Surgical correction of the congenital malformation associated with revascularization of the right coronary allowed a prompt recovery of clinical conditions and ventricular function.- - - - - - - - - - ranking = 1.9091024289162keywords = malformation (Clic here for more details about this article) |
8/19. Tracheal agenesis: a case report.Tracheal agenesis is a rare congenital anomaly and typically has fatal consequences. Associated congenital malformations are present in 90 per cent of cases, most frequently affecting the cardiovascular or gastrointestinal systems and the genitourinary tract. Affected infants lack prenatal symptoms and usually present with severe respiratory distress, absence of audible crying and difficult or impossible endotracheal intubation, leading to failed airway management and irreversible cerebral hypoxia. The authors report an infant with tracheal agenesis who presented with respiratory failure after birth. The clinical features, embryology and classification schemes are presented in the hope of increasing awareness, thus making earlier diagnosis possible and thereby improving survival.- - - - - - - - - - ranking = 1.9091024289162keywords = malformation (Clic here for more details about this article) |
9/19. Tracheal agenesis: management of the first 10 months of life.Tracheal agenesis is a potentially lethal congenital anomaly, appearing only at birth. We describe a newborn preterm infant who presented with immediate respiratory distress and no audible cry. There was almost complete tracheal agenesis with a very short segment of distal trachea (only two tracheal rings) arising from the anterior wall of the esophagus, before dividing into the mainstem bronchi. The anomaly was unsuspected prenatally, as the scan showed pyloric atresia and complex congenital cardiac disease. Despite the patient's difficult course, with correction of the rare-associated malformations (cardiac and gastrointestinal tract anomalies), the fact that the child is lively and neurologically normal for her age, requires that we now consider the patency of the airway and the possibility of surgical correction, in accordance with a good quality of life.- - - - - - - - - - ranking = 1.9091024289162keywords = malformation (Clic here for more details about this article) |
10/19. Quadricuspid aortic valve as a cause of severe aortic regurgitation.Quadricuspid aortic valves (QAVs) constitute a rare congenital malformation, with an incidence ranging from 0.008 to 0.048%. We report a case of severe aortic regurgitation associated with a QAV, which was diagnosed intraoperatively using transesophageal echocardiography. Since the first case described in 1862, 186 QAVs have been reported. In most cases, QAVs are associated with valve regurgitation, with a concurrent stenosis in some patients, while only a small number of QAVs are functionally normal. Once the diagnosis has been made, echocardiographic follow-up is recommended, as progression to severe valve regurgitation is common. antibiotic prophylaxis is advisable for dental, and "dirty" surgical procedures, to minimize the risk of infective endocarditis.- - - - - - - - - - ranking = 1.9091024289162keywords = malformation (Clic here for more details about this article) |
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