Rare Case Of Congenital Absence Research Articles

A rare case of congenital absence of ribs in a newborn baby

Congenital absence of ribs is a rare condition. The defect is generally unilateral, and the first rib is usually unaffected. We report a case of congenital absence of ribs in an early-term (37 + 1 week), female baby. The 5th and 6th ribs on the right side were absent. The baby had mild respiratory distress which resolved within 1 day and had no other congenital anomolies. Rarely, it can result in severe lung restriction and cor pulmonale.

Bilateral Agenesis of Internal carotid artery: A case report with emphasis on neuroimaging features

Congenital absence of the internal carotid artery is a rare anomaly, occurring in less than 0.01% of the population [1, 3]. It includes agenesis, aplasia, and hypoplasia of the internal carotid artery [2, 5]. Recognition of these anomalies has important implications during planned surgery, in thromboembolic disease and in the surveillance and detection of associated cerebral aneurysms [2, 3]. It is usually an incidental finding on color Doppler carotid ultra sonography, angiography, computed tomography or magnetic resonance imaging of the head and neck taken for some other indication [2, 6]. Most of the patients are asymptomatic due to the presence of sufficient cerebral circulation supplied by the communicating arteries of the circle of Willis, inter cavernous anastomosis, external carotid artery and by persistent embryologic arteries to the carotid artery territory. Nevertheless, in some cases this anatomic variation may eventually lead to some clinical signs and symptoms [2, 4, 6]. We present a rare case of congenital absence of both internal carotid arteries and its possible implications.

Congenital Absence of the Fimbria with Deformity of the Ampullae of the Fallopian Tube

Abstract Background: Congenital segmental absence of the Fallopian tube is a rare finding. These cases are diagnosed by hysterosalpingogram as tubal obstructions. Pathology evaluation of the excised Fallopian tube will confirm the etiology. Case: A 23-year-old female with a history of recurrent miscarriages and secondary infertility had a complete evaluation performed. A hysterosalingogram revealed an abnormal left Fallopian tube with dilated ampulla. Laparoscopy confirmed the presence of a hydrosalpinx. The tube was removed. Results: This patient recovered completely and was able to achieve pregnancy. Pathology testing revealed absent fimbria, an intact epithelial lining, and the absence of any evidence of inflammatory disease or endometriosis. Conclusions: This is a rare case of congenital absence of the tubal fimbria resulting in tubal obstruction. The presence of an intact epithelial lining without any evidence of inflammation supports the congenital absence of the fimbria. (J GYNECOL SURG 31:177)

Endoscopic Stapedotomy for Congenital Absence of Stapes

Objective: To describe our experience with endoscope-assisted stapedotomy in a patient with congenital absence of stapes. Patient: Female patient with bilateral congenital absence of stapes. Intervention: Endoscopic stapedotomy. Results: The patient recovered well with closure of air-bone gap on pure-tone audiogram postoperatively. Conclusion: A rare case of congenital absence of stapes managed by endoscopic-assisted surgery is presented. The aetiology of this condition and the relative benefits of using the endoscope in such cases of congenital middle ear malformation are discussed.

Rare case of congenital absence of left internal carotid artery.

Rare case of congenital absence of left internal carotid artery.

Long-term function after pseudo-pollicization of the little finger

This article presents a technique for facilitating use of pinch between the ring and little fingers for use in rare cases of congenital absence, or severe hypoplasia, of the thumb in which pollicization of the index finger is impossible, or not advised because the child is already pinching by scissor action between the ring and little fingers. The technique avoids drawing attention to the hand, as is the case after true pollicization of the little finger. The technique was used in five hands in five children. Three of the patients could only be followed for under 2 years. Two patients were available for longer follow-up of 6 years and 2 months and 3 years after surgery. The surgery was shown to facilitate opening of the web and pinch between the little and ring finger tips, and continues to be of functional value to the children as they grow.

Congenital Absence of the Lumbar Facet Joint Associated With Bilateral Spondylolysis of the Fifth Lumbar Vertebra

A 14-year-old boy presented with a rare case of congenital absence of lumbar facet joint manifesting as low back pain. Physical examination showed no neurological or hematologic abnormalities. Radiography revealed absence of a facet joint on the right side of L4-5. Computed tomography and three-dimensional computed tomography revealed absence of the facet joint on the right side of L4-5 and spondylolysis on both sides of L5. Pain subsided after conservative treatment. This is an extremely rare case of congenital absence of lumbar facet joint associated with bilateral spondylolysis.

A rare case of congenital absence of permanent canines associated with other dental anomalies

Agenesis of permanent canines is a rare condition and that of both maxillary and mandibular permanent canines is extremely rare. Reports of such cases are very scarce in the literature. It may occur either isolated or in association with other dental anomalies. This paper reports an unusual case of agenesis of both the maxillary permanent canines and mandibular right permanent canine occurring in association with congenitally missing mandibular permanent central incisors and microdontic maxillary lateral incisors in a 10 year-old Indian male.

Absence of Posterior Mitral Leaflet With Secundum Atrial Septal Defect

A rare case of a 54-year-old woman with absence of congenital posterior mitral leaflet, moderate mitral insufficiency, and large secundum-type atrial septal defect is reported. Two-dimensional color Doppler and transesophageal echocardiography revealed complete absence of the posterior mitral leaflet, a thick muscular formation replacing the posterior leaflet, a 3.3-cm secundum type atrial septal defect, and severe pulmonary hypertension. This report describes the rare case of congenital absence of posterior mitral leaflet associated with secundum type large atrial septal defect in a middle-age woman.

Congenital absence of lumbosacral articular facet joint associated with conjoined nerve root: a case report

We report a rare case of congenital absence of the L5-S1 facet joint, which was associated with a conjoined nerve root. Combination of these two anomalies has been quite rarely reported in the literature. A 39-year-old man presented with acute low back pain and right leg radiating pain. Muscle weakness and sensory disturbance of the right leg were also apparent in the region innervated by L5 and S1 nerve roots. Preoperative multidetector three-dimensional computed tomography (3D-CT) showed complete absence of the right S1 superior articular process. Magnetic resonance (MR) images showed lumbar disc herniation at right L5-S1 level that migrated cranially. Intraoperative findings revealed that the right L5 nerve root and S1 nerve root were conjoined, and the conjoined nerve root was compressed by L5-S1 disc herniation, which led to impairment of the conjoined nerve root by a single-level lumbar disc herniation. After removal of the disc herniation, his right leg pain immediately subsided, however muscle weakness and sensory disturbance persisted. Surgeons should be aware of this nerve root anomaly when examining a patient who shows an unusual clinical presentation and/or congenital osseous anomaly.

Congenital absence of the internal carotid artery in a patient with spinal cord injury: case report

Case report. To describe a rare case of congenital absence of the internal carotid artery (ICA) in the setting of acute spinal cord injury and review the existing literature. Regional Spinal Cord Injury Center of the Delaware Valley, Philadelphia, PA, USA. We report on a 47-year-old male who presented as a T2 ASIA A spinal cord injury with a T2-T3 fracture dislocation injury after a 25-feet fall from a tree. Magnetic resonance angiography imaging of the neck carried out as per routine spinal trauma protocol suggested an acute traumatic injury to the carotid artery. Therefore, computed tomographic angiography imaging of the neck was performed, which revealed absence of the left ICA and a diminutive left carotid canal at the skull base, suggesting congenital absence. Follow-up magnetic resonance imaging of the brain to evaluate for acute infarct showed no diffusion restriction contributing to the evidence that this was a congenital anomaly and not traumatic occlusion of the artery. Congenital absence or hypoplasia of the ICA is a rare anomaly. It should be considered in the differential in patients who have absent or diminished carotid arteries on radiologic imaging in the setting of trauma.

Vaginal agenesis associated with renal ectopia

Two rare cases of congenital absence of the vagina due to Mayer-Rokitansky-Kuster-Hauser syndrome, the first associated with a crossed pelvic kidney and the second with a solitary pelvic kidney, are presented. Diagnosis was based on the history, gynecological examination, pelvic sonogram, intravenous pyelogram, and laparoscopy. Vaginoplasty was successfully applied in both cases to facilitate sexual intercourse.

Congenital Absence of Pericardium: A Rare Case Associated with Severe Mitral Stenosis with Pulmonary Hypertension

We report a rare case of congenital absence of pericardium in a 35 year old middle-aged man, who underwent closed mitral commissurotomy done for severe mitral restenosis developed after Percutaneous Transluminal Mitral Commissurotomy (PTMC) six months back. Operation was done under General Anaesthesia through left anterolateral thoracotomy. Pericardial defect was discovered intraoperatively. There was no clinical symptom that could be clearly related to the defect of the pericardial sac pre-operatively. The recovery of the patient was satisfactory and uneventful. Key Words: Mitral stenosis; Absent pericardium. DOI: http://dx.doi.org/10.3329/cardio.v3i2.9193 Cardiovasc. J. 2011; 3(2): 222-225

The osmotic passage of water and gases through the human skin

It has been known for long that part at least of the “insensible” passage of water which is constantly passing through the skin is not due to the activity of sweat-glands, since in the rare cases of congenital absence of sweat-glands some water is nevertheless given off through the skin. Two cases of this kind were investigated by Loewy and Wechselmann (1911), who inferred that at an ordinary air-temperature as much as 18 grams of water might pass through the skin in an hour. The cases were those of two brothers, whose father had apparently suffered from the same defect. A further, more complete, study of a similar case was recently made by Richardson (1926). In our previous paper (1929) we brought forward evidence to show that in ordinary insensible perspiration through the skin, salts do not penetrate the skin in anything like either the same concentration or the same composition as would be the case if they had been excreted in sweat, and several similar results were given by Moss (1927). Hence since sweat contains salt, and in fairly constant concentration, little or none of this insensible perspiration is due to sweating, and the passage of water is presumably due to an osmotic process. The present paper contains further evidence in this direction, together with data as to variations in the osmotic transference and their relation to regulation of body-temperature. Variations in the rate of transference of gases through the skin have also been studied. We may define osmosis as the passage, molecule by molecule, of a substance, such as water, through a membrane or surface which is permeable to it, though it may not be to another substance present in the same state on one side of the membrane or surface. The consequence of the presence of the other substance is that the substance which can pass through the membrane can do so against adverse pressure on the side on which the other substance is present; and the maximum amount of this pressure is known as the osmotic pressure. As was pointed out recently by one of us (Haldane, 1928), this passage is due simply to diffusion, the diffusion-pressure of the substance which passes through being necessarily greater on the side from which it passes, so that for this reason the substance can pass through against mechanical pressure. It is thus simply with a diffusion process that we are dealing in the case of osmotic transfer of water through the skin, and what is usually called the osmotic “pressure” existing in a solution is more correctly called osmotic depression. It is with this depression that depression of the vapour-pressure of the solution runs parallel.