Penis agenesis

Congenital absence of the penis is a very rare malformation. The incidence is about 1:30 million persons or 1:16,000 necropsies. The cause of the malformation is unknown. Frequent associated malformations of the lungs, the colon and the urinary tract are determinating the prognosis. The therapy of choice in case of isolated penile agenesis is primary orchidectomy, later vaginoplasty and hormonal feminisation. We report our experience with two cases.     

Dorsolumbosacral agenesis

Caudal regression is a rare congenital spinal anomaly characterized by partial or total agenesis of the sacral and/or lumbar spine. Sacral and/or lumbosacral agenesis has been well described. However, especially as far as MRI studies are concerned, thoracolumbosacral agenesis has rarely been reported. Received: 23 November 1999 Revised: 25 August 2000 Accepted: 15 October 2000     

Tracheal agenesis

A case of tracheal agenesis is reported. At present, this lethal and rare malformation cannot be recognized before birth. Circumstances of the pregnancy and the stages leading to the diagnosis at birth are reported. Autopsy allows to classify the type of malformation and to search for others malformations, as seen in the VATER syndrome. A tracheo-oesophageal fistula is always present. The mechanism is unknown and there is no chromosomal anomaly. Fifty cases have been published in literature.     

Tracheal agenesis

An unusual case of tracheal agenesis without tracheo-oesophageal fistula is reported in a neonate who presented with birth asphyxia.     

Bladder agenesis with urometrocolpos

A 20-day-old female presented in acute renal failure with an absent bladder and vaginal atresia. The right ureter opened into the uterus, resulting in a urometrocolpos, and the left ureter opened through a stenotic opening into the introitus. The literature is reviewed for reported cases and the embryo-pathology of bladder agenesis is discussed. Accepted: 17 June 1998     

Isolated unilateral pulmonary agenesis

Two cases of isolated pulmonary agenesis with no other associated congenital abnormality are reported. First case was 13-year-old girl who presented for the first time with chest infection and was found to have isolated unilateral pulmonary agenesis and responded well to antibiotics, Second case was a 10-year-old girl who had presented with total duration of illness of one year with clinical features suggestive of chronic chest infection with family history of pulmonary tuberculosis and later found to have agenesis of upper lobe of left lung in addition to having gastric aspirate positive for Mycobacterium tuberculosis. She responded to anti tubercular therapy.     

CT of tracheal agenesis

Background Tracheal agenesis is a rare and usually lethal anomaly. In the past, opaque contrast medium was injected via the esophagus to demonstrate the anatomy.Objective To demonstrate the utility of helical and multidetector CT in delineating the aberrant anatomy in newborns with tracheal agenesis.Materials and methods Four newborns with tracheal agenesis were identified from three institutions. Imaging studies and medical records were reviewed. Each child was imaged with chest radiography. One child was imaged on a single-detector helical CT scanner and the other three on multidetector scanners.Results Helical and multidetector CT with 2D and 3D reconstructions clearly delineated the aberrant tracheobronchial and esophageal anatomy in each infant. Minimum intensity projection reformatted CT images were particularly helpful. One infant each had type I and type II tracheal agenesis. Two infants had type III tracheal agenesis. All four infants died.Conclusion CT is a useful tool for delineating the aberrant anatomy of newborns with tracheal agenesis and thus helps in making rational clinical decisions.     

Right internal carotid artery agenesis

Congenital absence of one or both carotid arteries is a rare anomaly. It is usually discovered incidentally by computed tomography, or magnetic resonance imaging of head and neck taken for some other reason. Most of the patients are asymptomatic, although there is a close association of intracranial aneurysms and subarachinoid hemorrhage in many patients. Here we report a case of right internal carotid agenesis in a young female associated with recent onset amnestic syndrome.