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Achalasia in siblings. Clinical and genetic aspects.

Achalasia is rare in children; less than 2% of all patients with achalasia are less than 6 years old. Familial achalasia is extraordinarily rare, for an exhaustive search of the world literature yielded only 31 cases. Two additional cases are reported here. Based on an analysis of the reported cases in the literature coupled with our two cases, we have observed that familial achalasia is likely transmitted as an autosomal recessive trait. We recommend that all siblings of children with confirmed achalasia should either be studied by contrast roentgenography or be monitored closely for clinical signs of achalasia, especially if they are products of consanguineous parents.

Esophageal Achalasia↗

Subglottic foreign bodies in pediatric patients.

Impacted subglottic foreign bodies may produce upper airway obstruction and clinical signs simulating croup or asthma. We identified the roentgenologic and clinical features in six patients. In four of these patients, the parent had not observed the aspiration episode, so that the diagnosis was delayed. Roentgenologic studies demonstrated subglottic narrowing of the upper airway with a homogeneous, poorly defined radiodensity within the narrowed segment. These roentgenologic studies are usually diagnostic; therefore, if infants or young children present with stridor of undetermined cause, soft-tissue upper airway roentgenography is indicated.

Asthma↗

Neural arch stenosis and spinal cord injury in thanatophoric dysplasia.

Bony abnormalities caused by thanatophoric dysplasia affect the base of the skull and the vertebrae as well as the ribs and appendicular long bones. We present our findings in a full-term infant with thanatophoric dysplasia in whom the posterior fossa, the rostral vertebral column, and the neuraxis at and adjoining the craniovertebral junction were studied by dissection, roentgenography, and histologic examination. In this infant, malformations of the vertebral laminae, most prominent in the basiocciput and atlas vertebra, led to compression of the rostral cervical spinal cord, causing gliosis and focal necrosis. Stenosis of the foramen magnum and spinal canal may contribute to the ventilatory insufficiency that often causes death in patients with thanatophoric dysplasia. We suggest that the causes of death in patients with thanatophoric dysplasia and other severe forms of osteochondrodysplasia should be sought in neuraxial injury rather than attributed solely to pulmonary hypoplasia.

Autopsy↗

Lacerations involving glass. The role of routine roentgenograms.

OBJECTIVE: To determine, when evaluating a laceration caused by glass, whether seeing that the bottom of the wound is free of glass eliminates the possibility that glass is present in the wound. RESEARCH DESIGN: Prospective patient series. SETTING: Two pediatric emergency departments. PARTICIPANTS: 226 children with lacerations due to glass occurring in a period of 21 months. SELECTION PROCEDURES: Consecutive sample. INTERVENTIONS: Before obtaining a roentgenogram, the triage nurse or the managing physician visually inspected each wound and recorded whether the bottom of the wound was seen, if glass was seen in the wound, and the length and depth of the wound. Further treatment of the wound was at the discretion of the managing physician. MEASUREMENTS/MAIN RESULTS: Glass was seen in the wounds of 10 children on initial inspection. Of the remaining 216 injuries, glass was contained in 12 (21.4%) of the 56 lacerations when the bottom of the wound was not visualized, and in 11 (6.9%) of the 160 lacerations when the bottom of the wound was visualized. There was a significant association between the depth of the wound and an inability to see the bottom of the wound, and deeper wounds were significantly more likely to contain glass. All but one of the lacerations containing glass had a depth of at least 0.5 cm. CONCLUSIONS: In the population studied, seeing that the bottom of the laceration was free of glass reduced, but did not eliminate, the possibility that glass was present in the wound. In addition, superficial lacerations (less than 0.5 cm) rarely contained undetected glass fragments. We recommended that further investigation concerning the mechanism of injury, the depth of the wound, and the type of glass involved is needed before physicians abandon routine roentgenography for lacerations due to glass.

Child↗

Skin lesions of the spinal axis and spinal dysraphism. Fifteen cases and a review of the literature.

OBJECTIVE: To catalog the paraspinal skin lesions of early childhood that are associated with occult spinal dysraphism. RESEARCH DESIGN: Retrospective review of a series of patients. SETTING: Tertiary care referral center. PATIENTS: Fifteen patients who had significant paraspinal skin lesions were identified from the personal files of the authors who saw them. RESULTS: The skin lesions included various combinations of hyperpigmentation, hypopigmentation, hypertrichosis, acrochordons, dimples, lipomas, hemangiomas, or teratomas. Not all lesions were evaluated with the same tests, which included plain roentgenography, ultrasonography, myelography, computed tomography, and magnetic resonance imaging. Of the 15 patients, six had spinal anomalies, eight had no apparent spinal dysraphism, and one had insufficient results of the evaluation to assess the spinal column. CONCLUSIONS: Early recognition of paraspinal skin lesions is essential to prevent neurologic damage. Urinary or fecal incontinence, recurrent urinary infections, muscle atrophy, foot deformities, weakness, pain, or decreased sensation in the lower extremities may eventually develop in these patients. Magnetic resonance imaging appears to be the single best screening test for dysraphism.

Back↗

Primary abdominal wall abscess diagnosed by ultrasound.

Ultrasound was used to diagnose and demonstrate an anterior abdominal wall abscess of unknown cause in a diabetic woman. This condition may mimic major abdominal disorders and, in our patient, appeared as acute cholecystitis. The use of ultrasound is simple, quick, painless, and without known adverse side effects. The diagnosis may be more easily and accurately established than by routine roentgenography.

Abdominal Muscles↗

Pneumoperitoneum complicating mechanical ventilator therapy.

Subdiaphragmatic air arouses the clinical suspicion of a perforated intra-abdominal viscus. In patients with respiratory failure requiring mechanical ventilation, the retroperitoneal dissection of air from the mediastinum may give rise to radiologic evidence of subdiaphragmatic emphysema. The present report describes four patients with this syndrome. In three of them, a perforated gastric or duodenal ulcer was initially suspected. None of these three patients underwent surgery. Autopsy examinations in two patients revealed extraperitoneal subdiaphragmatic emphysema with secondary rupture into the free peritoneal cavity. The third patient had an uneventful recovery and was discharged from the hospital. In a fourth patient, signs of peritonitis prompted an exploratory laparotomy. No perforation of an intraperitoneal viscus was identified. Upper gastrointestinal contrast roentgenography and peritoneal lavage may help determine the etiology of subdiaphragmatic air in patients undergoing therapy with a mechanical ventilator.

Adolescent↗

Isolated aneurysms of the iliac artery.

Clinical and diagnostic material were gathered from eight cases of iliac aneurysms encountered over a ten-year period. From the literature, descriptions of 36 lesions were also reviewed to identify their outcome when treated conservatively. Six of the eight aneurysms treated as expected resulted in eventual rupture. Although 48% of all patients (those in the present series and those reported in the literature) had symptoms before rupture, the symptoms of intact iliac aneurysms often mimicked urological or neurological diseases. In contrast to persons with abdominal aortic aneurysms, only 36% of all patients had a palpable abdominal or rectal mass before rupture. In 65% of all cases, noninvasive roentgenography failed to show the lesions. An aneurysmal lesion was often (23%) present in the opposite iliac system as well. Ninety-three percent of all patients survived after an elective operation, but only 48% survived after an emergency iliac aneurysmectomy after rupture occurred.

Aged↗

Gastroesophageal reflux in infants and children. Diagnosis and management.

Eighty-three infants and children underwent surgical correction of gastroesophageal reflux (GER) from 1973 to 1978. Fifty-four patients had coexistent brain damage (most commonly due to cerebral palsy), eight were previously treated for esophageal atresia, and four had gastroschisis or omphalocele repair. Clinical presentation included failure to thrive in 64 patients, vomiting in 59, and recurrent bouts of aspiration pneumonitis in 43. Barium roentgenography showed GER in 61 patients, whereas additional tests (particularly pH monitoring) were required for detection of GER in 22 patients. After failure of medical management, transabdominal Nissen fundoplication was performed in 80 cases and a Hill repair in three cases. The surgical mortality was zero, but there were five late deaths. Results were considered excellent in 54 patients, good in 22 patients, and poor in seven. Ten of 12 patients with preoperative stricture responded to dilation after fundoplication. Nissen fundoplication was a safe and effective antireflux procedure in 76 of the 83 cases.

Adolescent↗

Stomal ulcers after gastric bypass.

Introduction of gastric bypass as treatment for morbid obesity in 1966 caused over its ulcerogenic potential as an antral exclusion procedure. However, in only 20 of our 653 patients has marginal ulceration developed. Predominant symptoms were epigastric pain, occult gastrointestinal bleeding, and vomiting. Barium contrast roentgenography was as diagnostically accurate as endoscopy in these lesions. Objective measurement ensuring creation of a gastric reservoir of 50 mL maximum size reduced the incidence of marginal ulcer from 3.8% to 0.98%. Upper pouch size determined the mode of therapy. Nonoperative therapy was successful in patients with small pouches, but did not relieve symptoms of patients with large reservoirs. Truncal vagotomy and resection of redundant upper pouch was the preferred operative approach in these patients.

Adult↗

Nonpalpable breast lesions discovered by mammography.

Specimen mammography has been used at our medical center since January 1976, for the purpose of localizing and confirming the removal of mammographically identified, nonpalpable breast lesions. Forty patients were studied between Jan 1, 1976 and MFay 31, 1979, and 11 of these were found to have carcinoma. Nine of this group had surgical procedures that included axillary lymph node excision and there were no patients with positive axillary nodes. Frozen-section diagnosis was used in 22 patients and found to correlate well with permanent section diagnosis, providing the frozen section was obtained from the most suspicious area of the specimen. Needle localization was used in 15 patients and found to be of definite value in assuring excision of the mammographic abnormality. Three patients had a persistent mammographic lesion after the procedure was done and each of these was successfully managed by repeated biopsy using specimen roentgenography with needle localization.

Adult↗

New computed tomographic signs of aortoenteric fistula.

Successful preoperative diagnosis of aortoenteric fistula is often difficult. Clinical findings, roentgenography, angiography, and endoscopy have been used in diagnosis with only partial success. Newer techniques of gallium citrate Ga 67 scanning, ultrasonography, and computed tomographic (CT) scanning have been used in recent years to establish the diagnosis of aortic graft infection or aortoenteric fistula. In two cases, the CT scan clearly established the diagnosis of secondary aortoenteric fistula, as well as two previously unreported signs of aortoenteric fistula: intraluminal aortic gas and paraprosthetic extravasation of contrast medium.

Aged↗

External duodenal fistula. Causes, complications, and treatment.

We reviewed records of 18 patients with external duodenal fistula. Fourteen patients developed duodenal fistulas following an operation, two following abdominal trauma, and two as a complication of other diseases. Copious drainage of intestinal juice from the abdomen was the most common presenting sign. Contrast fistulography, upper gastrointestinal tract roentgenography, and T-tube cholangiography were useful diagnostic studies. Nine patients were treated nonoperatively; nine patients required at least one operation. Complications occurred frequently; of special interest were three patients who developed postoperative acute cholecystitis. Six patients died (33% mortality). Factors associated with mortality were advanced age (greater than 65 years), uncontrolled infection and multiple organ failure, high-output fistula, malnutrition, delay in diagnosis (more than three days), and multiple reoperations to treat the fistula or complications. External duodenal fistula continues to be a life-threatening problem whether it is postoperative, posttraumatic, or secondary to a disease process.

Abdominal Injuries↗

A new surgical localization technique for biopsy in patients with nipple discharge.

In a series of 12 patients with bloody nipple discharge, a new technique of mammary ductal localization was used to identify the duct responsible for the discharge and assure its complete removal for pathological diagnosis. This procedure utilizes a 30-gauge anterior chamber needle that is gently advanced into the offending duct, and methylene blue dye is injected to outline the involved duct for easy dissection though a circumareolar incision. This provides the pathologist with an intact specimen and avoids the problems associated with specimen roentgenography or loss of a ductal probe during the procedure. Because we feel that all patients with a bloody nipple discharge warrant a biopsy, this procedure provides a safe, rapid, effective method and allows the biopsy to be done on an outpatient basis.

Biopsy, Needle↗

Pneumopericardium following penetrating chest injuries.

The presence of pneumopericardium following penetrating injuries of the chest is highly suggestive of a cardiac injury. For this reason, it is generally considered that its presence should be an indication for surgery. In the present study 20 patients with pneumopericardium were selected for conservative treatment. All patients were closely observed by means of clinical examination, serial chest roentgenography, electrocardiography, and Doppler echocardiography. In five patients the electrocardiogram showed pericarditis, and in three patients the echocardiogram demonstrated small pericardial effusions. One patient developed tension pneumopericardium 36 hours after admission and required surgical intervention. The remaining 19 patients had an uneventful recovery. We suggest that the presence of a pneumopericardium following penetrating chest trauma is not an absolute indication for surgery. Electrocardiographic and echographic studies may help in the selection of patients for conservative treatment; but the final decision should be made on the basis of clinical signs and symptoms.

Adolescent↗

Calciphylaxis in secondary hyperparathyroidism. Diagnosis and parathyroidectomy.

Calciphylaxis is a rare, severe complication of secondary hyperparathyroidism. Patients present with painful, violaceous, mottled skin lesions of the upper and lower extremities, which become necrotic and produce nonhealing ulcers. Gangrene of fingers and toes frequently requires amputation, produces nonhealing wounds, and can lead to sepsis and death. We reviewed the clinical course of five patients with calciphylaxis treated in our institution. The three men and two women (aged 47 to 72 years) had secondary hyperparathyroidism from chronic renal failure. All patients had severe pruritus, painful ulcers, and severe hyperphosphatemia with elevated serum calcium-phosphate product (greater than 12 mmol2/L2), but the serum parathyroid hormone levels were only moderately elevated. Most patients had medical calcification of medium and small blood vessels, and some had soft-tissue calcification visible on roentgenography. Treatment consisted of local wound care, antibiotics, phosphate-binding agents, and parathyroidectomy. Two patients died of uncontrollable sepsis. The three survivors had dramatic improvement of pain and ulcers after parathyroidectomy. Calciphylaxis is a limb- and life-threatening complication of secondary hyperparathyroidism. Diagnosis can be made by recognizing the characteristic painful skin lesions, ulcers, and gangrene of the digits, and patients should be treated with subtotal parathyroidectomy.

Aged↗

Decortication for childhood empyema. The primary provider's peccadillo.

Of the 31 children treated for empyema thoracis secondary to pneumonitis at the Loma Linda University Medical Center, Loma Linda, Calif, from 1980 to 1990, 23 responded to prompt directed antibiotic therapy coupled with drainage, usually tube thoracostomy. All patients were cured clinically; some demonstrated residual pleural reaction with chest roentgenography or computed tomography that resolved over time. Decortication was necessary in eight severely ill children; three required concurrent lung resection for abscess. Distinct from the nonoperated group, there was a pattern of initial antibiotic trials in these patients averaging 6.5 different drugs plus delayed drainage of effusions. Delay in the initiation of antibiotic therapy was six times longer for the operated vs the nonoperated group. Delay to tube thoracostomy was 18 days for the decorticated children compared with 5.4 days for the nondecorticated children. All eight children responded completely and rapidly to their decortications. Roentgenographic changes lagged considerably behind the clinical course of the child, and computed tomographic scans provided better identification of chest tube placement but little information predictive of the need for decortication. Decortication for empyema seldom is necessary when a child is treated promptly with appropriate antibiotics directed by thoracentesis findings, and drainage, usually tube thoracostomy. The criterion for decortication is persistent sepsis, not the roentgenographic appearance of the chest.

Adolescent↗

Usefulness of preoperative laboratory assessment of patients undergoing elective herniorrhaphy.

Preoperative laboratory utilization was evaluated in a retrospective review of 169 adults undergoing elective inguinal herniorrhaphy at a county/university hospital and at a private/community hospital. Tests monitored included a complete blood cell count, urinalysis, serum electrolytes, chest roentgenography, and electrocardiography. Abnormal results and results that altered the patients' treatment were sought. Two groups of patients were evaluated. Group 1 (n = 105) had no disease except for the inguinal hernia; group 2 (n = 64) had evidence of another disease process. Preoperative evaluation of patients in group 1 was similar at the county/university hospital and at the private/community hospital except for increased electrolyte screening at the county/university hospital among patients younger than age 40 years. No differences between hospitals were present among patients in group 2. Abnormal results not predicted by medical history or physical examination were found in 1% of patients in group 1 and 1.4% of patients in group 2. Only four patients (2%) had their treatment altered by these findings. Preoperative laboratory evaluation of these patients revealed that an abnormal test result not predicted by history and physical examination is rare. Routine preoperative laboratory testing is of little value in this patient population.

Adult↗