Congenital Nature Research Articles

Pseudocoarctation of the aorta

A report of an anomalous kinking of the aortic arch is presented with a discussion of the anatomy, physiology, diagnosis, and management. The congenital nature of the lesion, the importance of an accurate diagnosis, and hemodynamic insignificance are stressed in this report.

Basal Cell Epithelioma Arising in a Pilonidal Sinus

A case of basal cell epithelioma of a pilonidal sinus is presented and is the third one documented to our knowledge. Sixteen pilonidal squamous cell carcinomas, two adenocarcinomas, one mixed basosquamous malignancy, and one unclassified case have been gathered from the literature. Of these, 17 occurred in men and only three in women. The pilonidal malignancies are tabulated. Recent observers favor the acquired rather than the congenital nature of the pilonidal sinus. In view of the possibility of neoplasia developing in pilonidal sinus, postanal prophylaxis is advised, and careful clinical and microscopic evaluation of all sacrococcygeal pilonidal sinuses is stressed.

Intralobar bronchopulmonary sequestration. Association with a murmur over the back in a child.

ALTHOUGH intralobar bronchopulmonary sequestration has been reported frequently in adults, few cases have been reported in the pediatric literature. This predominance of reports in adults is surprising because of the congenital nature of the malformation. The purpose of this article is to report a case of intralobar bronchopulmonary sequestration in a child. This diagnosis was suggested by a murmur heard over the left costovertebral angle in a 4 year 7-month-old child with a history of recurrent pneumonia, and a persistent mass noted in retrospect on a series of chest x-ray films. This is the second case report in which a murmur was heard over the back. Report of a Case The patient was born on Sept 2, 1960, in the University of California (Irvine) College of Medicine service at Los Angeles County General Hospital, Unit II. Pregnancy and delivery were uncomplicated. The birth weight was 3,289 gm (7 lb 4

Klinefelter's Syndrome

Since the elucidation of the congenital nature of Klinefelter's syndrome, considerable interest has been aroused by this not uncommon, chromosomally predetermined, clinical entity. We have undertaken a retrospective study of a large group of patients with this condition in order to establish their phenotypic and laboratory characteristics. Methods The clinical records of 50 patients with Klinefelter's syndrome seen at the Mayo Clinic from 1956 through 1962 were studied. All of the patients were examined by at least one endocrinologist and more than half were interviewed and examined by one or more of the authors. All of the patients had a chromatin-positive buccal smear. Hypogonadal patients who were chromatin negative, as well as one patient with double chromatin bodies in his buccal smear, were excluded from the study. Results History. —The average age of the patients was 38 years (range, 17 to 66). Eleven patients (22%) were more than 50 years

Klinefelter's syndrome. Clinical and laboratory findings in 50 patients.

Since the elucidation of the congenital nature of Klinefelter's syndrome, considerable interest has been aroused by this not uncommon, chromosomally predetermined, clinical entity. We have undertaken a retrospective study of a large group of patients with this condition in order to establish their phenotypic and laboratory characteristics. Methods The clinical records of 50 patients with Klinefelter's syndrome seen at the Mayo Clinic from 1956 through 1962 were studied. All of the patients were examined by at least one endocrinologist and more than half were interviewed and examined by one or more of the authors. All of the patients had a chromatin-positive buccal smear. Hypogonadal patients who were chromatin negative, as well as one patient with double chromatin bodies in his buccal smear, were excluded from the study. Results History. —The average age of the patients was 38 years (range, 17 to 66). Eleven patients (22%) were more than 50 years

WOLFF-PARKINSON-WHITE SYNDROME IN A HEALTHY TWO-HOUR-OLD INFANT WITHOUT PAROXYSMAL TACHYCARDIA.

The Wolff-Parkinson-White (WPW) syndrome occurred in a healthy 2-hourold male neonate. Data on routine electrocardiogram, esophageal electrocardiogram, phonocardiogram, blood pressure, and heart volume on x-ray examination bear out the conclusion that this is the youngest known healthy patient with the Wolff-Parkinson-White syndrome without paroxysmal tachycardia. These data further confirm the congenital nature of this disorder. The rapid heart rate characteristic of infancy and intermittent nature of this syndrome suggest that cases may easily be overlooked with routine electrocardiographic technique. The incidence in this age group may therefore be significantly greater than currently believed.

Congenital Insensitivity to Pain with Anhydrosis

Introduction The syndrome of congenital to noxious stimuli (congenital universal to pain, congenital to pain, congenital insensitivity to pain, congenital pure analgesia, congenital analgia) consists of failure to react to ordinarily painful stimuli and usually occurs as an isolated sensory abnormality. Most observers have attributed the syndrome to an abnormal affective response rather than to defective perception. Therefore the term, indifference to is generally applied. However, Kunkle1recently has emphasized that some patients manifest signs indicating faulty transmission of pain signals. He comments that insensitivity to pain is a more appropriate term if evidence for defective transmission is demonstrated. While to pain is usually considered congenital, Ervin's report of a family with dominant inheritance2is the only well-documented case of familial occurrence. One-third of the 36 patients reported in the literature were over 25 years of age when studied, and the congenital nature

The pathogenesis of congenital myopia. A study of 66 cases.

Congenital myopia offers an unusual source material for the study of pathological While it is relatively rare, exhibiting an incidence of considerably less than 1%, 1-3 it is probably the purest form of the disease. Posterior sclerectasia is almost invariably found, and the numerous environmental factors which allegedly contribute to its pathogenesis can be reduced to a minimum. The children studied in this series, as in previous studies, are diagnosed several years after birth. It would, indeed, be more accurate to term the condition perinatal sclerectatic myopia. However, the introduction of new terms, although more accurate, might only serve to confuse rather than clarify the subject. Materials and Methods A total of 66 cases of congenital myopia were examined for this study. The congenital nature of the disease was considered to be established by a history of nearsighted attitudes assumed by the child since early infancy in conjunction with

Linear nevus sebaceus with convulsions and mental retardation.

The congenital neurocutaneous syndromes are a group of related disorders characterized by dysplastic abnormalities of the skin and nervous system. 1 Included in this diagnostic category are tuberous sclerosis, neurofibromatosis, Sturge-Weber syndrome, and ataxia telangiectasia. 2-5 In all of these, characteristic skin lesions, usually of the face, are associated with functional and anatomic evidence of central nervous system lesions. It is the consensus that these lesions, both dermal and neural, are dysplastic rather than neoplastic and are of a congenital nature whether manifested at birth or not until some later time. Recently we had the opportunity of studying 2 patients with unusual linear nevi of the face associated with convulsions and mental retardation. The striking similarity of the clinical course and gross and microscopic identity of the skin lesions suggests that this might represent a distinct entity perhaps related to the neurocutaneous syndromes. Report of Cases Case1.—The patient was

INHERITED FACTOR-VII DEFECT IN A NEGRO FAMILY

A case of factor-VII deficiency of a congenital nature in a Negro male child has been reported. As far as can be determined, this is the first case reported in this race. The defect was detected at 6 hours of age. Prothrombin, as contrasted to factor VII, after initially low levels normally found in infants, rose to adult levels. The patient's one-stage prothrombin time has ranged between 25 to 35 second (normal 11 to 12 seconds). In spite of this, he has never shown any manifestations of hemorrhage. The patient's family was studied and the findings indicate that the patient's defect represented a homozygous state and that both parents with a less severe deficiency were heterozygous for the trait. The defect is an autosomal disorder directly inherited. It is clinically apparent and easily detected only in the homozygous state. The heterozygous state is characterized by a very slight prolongation of the one-stage prothrombin time, the difference from the control value being so minimal as to be overlooked. In one subject studied, an aunt of the propositus, the quantitative defect (42% of normal) could not be regularly detected by the usual methods. Only by using the plasma of the propositus as the test plasma, was the defect in her plasma detected, thus explaining the transmission of the trait to her offspring. These findings explain the difficulties previously encountered in understanding the inheritance of the disorder.

Splenic arteriovenous fistulas as a cause of portal hypertension

A patient with splenic arteriovenous fistula associated with portal vein hypoplasia, presenting as hypersplenism, is reported on herein and reports of eight other cases of splenic arteriovenous fistulas are reviewed. The diagnosis in our patient was not made until operation, when the fistula was excised, the spleen removed, and a splenorenal shunt performed. The intrasplenic arterial tree showed numerous aneurysms at the bifurcation of the vessels supporting the congenital nature of the lesions. Catheterization of the vena azygos major was successfully performed before operation and the oxygen saturation of the sample obtained found to be unusually high. These results were not interpreted correctly but believed to support the possibility of shunting of portal venous blood into the azygos system.

Electrocardiographic findings in 67,375 asymptomatic subjects: IV. Wolff-Parkinson-White syndrome ∗

One hundred nine new cases of the WPW syndrome are presented. One hundred six were discovered as the result of an electrocardiographic survey of 67,375 asymptomatic healthy adult men producing an occurrence rate of 1.6 per thousand. There was an equal distribution among the various age groups; none was thought to have underlying organic heart disease and the incidence of paroxysmal tachycardia was approximately 12 per cent. The electrocardiographic characteristics, the instability of intraventricular excitation and the intermittent nature of the anomalous excitation are discussed. The experimental production of normal excitation is discussed with particular reference to the effects of varying vagal tone at various levels of the conduction system and to the value of intravenous administration of atropine sulfate. The vectorcardiographic characteristics are presented. The variability and lability of the S-T segments and T waves are stressed with respect to both spontaneous changes and those following various maneuvers. The probable congenital nature of the true WPW syndrome is stressed and the usual benign clinical nature discussed. This study casts serious doubt on the concept of an acquired WPW syndrome.

Intralobar bronchopulmonary sequestration in children; diagnosis by intrathoracic aortography.

Intralobar bronchopulmonary sequestration is a congenital pulmonary disease in which a portion of an otherwise normal lobe has no connection with the bronchial tree or pulmonary arterial circulation, and receives its arterial supply from anomalous branches of the aorta. This condition is relatively well known to radiologists and surgeons as a cause of lung cysts and recurrent infection requiring resection; but in spite of its congenital nature and the early appearance of symptoms in some patients, we have not found it reported in pediatric journals, although many cases have been described in children. Extralobar sequestration, in which the same pathological features occur in an accessory lobe, has been reported twice in newborn infants by pediatricians in surgical journals. 1,2 The purpose of this paper is to call the attention of pediatricians to intralobar sequestration and to report an effective method of proving the diagnosis by visualizing the anomalous arteries. Incidence

Manganese Deficiency in Rats: Congenital Nature of Ataxia

Female rats maintained from weaning on a manganese-deficient fresh milk ration were able to bear young not differing greatly in number or birth weight from those produced by females receiving a similar diet containing added manganese. Survival of the young was significantly decreased by the deficiency, and most of the surviving deficient young exhibited a pronounced ataxia, with lack of equilibrium, head retraction and tremor. Analyses of brain acetylcholinesterase activity in the young from the 19th day of gestation to 28 days after birth did not reveal any effect of manganese deficiency upon this enzyme. Both normal and manganese-deficient young showed a rise in brain acetylcholinesterase activity from birth to 21 days of age. Manganese-deficient females producing defective young were supplemented with manganese at various times during a subsequent pregnancy. Manganese supplementation begun on or before the 14th day of gestation was completely effective in preventing ataxia in the young. When manganese was withheld until the 18th day of gestation (but continued thereafter) survival was low, and all of the surviving young were ataxic. Manganese supplementation begun on the 15th or 16th days of gestation resulted in the birth of young about one-half of which were mildly ataxic. These data indicate that an irreversible congenital defect resulting in ataxia occurs between the 14th and 18th days of gestation in manganese-deficient female rats.

Simple Renal Cyst in Children

We are adding 1 more case of simple renal cyst to the 21 recorded cases in children as reported by DeWeerd and Simon.1In an excellent review of this condition, they emphasized the congenital nature of the lesion. There are no further reports in the English literature to date. Report of Case A 2½-year-old white boy was first admitted to the hospital on Sept. 4, 1956. One month prior to admission his mother noticed a large swelling involving the left upper quadrant of the abdomen. Physical examination confirmed this finding, and he was admitted for investigation. The past and family histories were noncontributory. Examination at admission revealed a fixed nontender smooth mass occupying the left upper quadrant and left flank. The rest of the examination was essentially negative except for a small umbilical hernia. Laboratory data were as follows: hemoglobin, 14 gm.; erythrocytes, 4,160,000 per cubic millimeter; leukocytes, 6700

Surgical Treatment of Ruptured Aneurysms of the Sinus of Valsalva*

Aneurysms of the sinus of Valsalva are usu- ally congenital in origin. When they rupture, it is generally into the right atrium or the right ventricle. Signs of a left- to-right shunt, aortic runoff, and cardiac decompensation are the cardinal features. Early diagnosis and surgical cor- rection result in cure. We report our experience with 28 patients. In all patients, we used a combined aortocameral approach, and we recommend a sandwich patch for the repair. Aortic valve replacement is needed only in patients with severe degenerative changes. The overall operative mortality was 21.4%, but in the last 10 years, mortality was only 11.7%. The causes of operative and late mortality are discussed. Ruptured aneurysms of the sinus of Valsalva represent a form of arteriovenous communication that is challenging to the surgeon and potentially lethal for the patient. Sur- gical closure of the fistula offers the only form of perma- nent cure. Although ruptured aneurysms of the sinus of Valsalva may be congenital or acquired in origin, most of them are the result of a congenital defect. Edwards and Bur- chell (l) attributed the congenital variety to a discon- tinuity between the aortic media and the annulus fibrosis of the aortic valve. The coexistence of a ventricu- lar septa1 defect (VSD) in a significant percentage of pa- tients with this malformation further substantiates the congenital nature of the condition.

Familial incidence of congenital aneurysms of cerebral arteries: report of cases of ruptured aneurysms in father and son.

That there may be a familial factor in the occurrence of intracranial aneurysm is a possibility that has not yet been advanced, to the knowledge of the authors. It has now been widely accepted that they are of a congenital nature, and, while it does not necessarily follow that they are also familial, it is intriguing to suppose that with further attention to the possibility such a relationship might be discovered. As early as 1887 Eppinger 1 proposed that aneurysmal sacs might be considered congenital. In 1928 Green 2 entitled an article Congenital Aneurysms of the Cerebral Arteries. Dandy 3 stated that most of the intracranial aneurysms were generally accepted as of congenital origin. More recently, Sugar, 4 referring to the monograph of Padget, 5 has been able to point out residuals of embryonic arteries capable of expanding into intracranial aneurysms at their common sites. On the other hand, reports

Congenital testicular deficiency. II. Defective Sertoli cell differentiation in hypogonadism of so-called obscure origin.

WE (1, 2) have recently called attention to certain forms of congenital testicular disease associated with androgen deficiency. In one type (1) there was a complete absence of spermatogonia (germinal aplasia) with preservation of Sertoli and Ley dig cells. In another form (2) a rudimentary cryptorchid testis was entirely devoid of germinal, Sertoli and Leydig cells. It was composed essentially of small solid tubules containing only undifferentiated cells. The purpose of the present communication is to record still another variety of testicular dysgenesis. In this instance Leydig cells are absent, but the Sertoli cells show variable development ranging from complete absence in some tubules to full differentiation in others. At the same time, spermatogonia are preserved, although there is no evidence of germ cell maturation. Tubular fibrosis is conspicuous and could easily obscure the primarily congenital nature of the testicular lesion.

Myasthenia gravis in a mother and her newborn son.

Myasthenia gravis is a disease that lends itself well to study. The history and physical findings are well defined, although variable. Almost absolute proof of the diagnosis is available in the test dose of neostigmine (prostigmin®). As a result, many articles are to be found in the recent literature. Numerous series of cases have been available for the study of such particular manifestations of the disease as the ocular and the bulbar. Certain aspects, however, are sufficiently rare to warrant case reports. Among these are cases of myasthenia gravis complicating pregnancy and congenital myasthenia gravis. Of the latter, a total of 10 cases has been reported, the first in 1942. 1a Of the 10 cases, the congenital nature of the disease was determined by retrospect in four. In the other six cases the diagnosis was made in the neonatal period. In this report the seventh known case of myasthenia gravis

Venous shunts in portal hypertension.

THE USE of shunts between the portal venous system and the vena cava or its branches has become a well-established method of combating the complications of portal hypertension.1The impetus of a reasonable surgical treatment has resulted in an improved understanding of the modes of production of portal hypertension. The frequent disproportion between the level of the portal pressure in intrahepatic disease and the degree of hepatic damage has been studied by Kelty and others.2These workers find that the regeneration of liver cells which improves hepatocellular function adds to the interference with portal blood flow. In cases of extrahepatic portal obstruction, the causes are narrowing down to those of congenital nature and those resulting from inflammation and thrombosis of the portal vein with subsequent organization along various lines. This organization may take the form of a single, extremely thick-walled vessel with small lumen, met with in one