Index of Suspicion

An 18-month-old girl presents with a 6-month history of intermittent fevers, 5 lb weight loss, and mild respiratory distress. A chest radiograph demonstrates bibasilar infiltrates. Despite treatment with parenteral antibiotics, the symptoms persist and the radiographic changes worsen. She has had no cough, vomiting, food aversion, change in appetite, contact with tuberculosis, or foreign travel. Born at term, she previously was healthy and developing normally.The girl's weight is 20 lb (<3rd percentile), and her height is 31 in (10th to 25th percentile). Her respiratory rate is 30 breaths/min and oxygen saturation is 91% in room air; she is afebrile. Mild intercostal retractions are noted, and crackles are heard bilaterally. There is no clubbing, organomegaly, or rash. Her neurologic findings are normal. Her WBC count is 15.6×103/mcL (15.6×109/L) with normal differential count, pH is 7.42, bicarbonate concentration is 20 mEq/L (20 mmol/L), carbon dioxide partial pressure is 32 mm Hg, and base excess is −3 mEq/L. Blood cultures are sterile, and a tuberculin skin test is nonreactive. A sweat test yields normal results. Twenty-four-hour esophageal pH monitoring does not show gastroesophageal reflux disease (GERD). An additional bedside clinical assessment followed by radiologic confirmation reveals the diagnosis.The parents of a 31/2-year-old boy notice that he has grown pubic hair recently, but has no body odor or acne. He has had no headaches, seizures, visual problems, polyuria, or polydipsia. His growth and development have been normal.Physical examination reveals a muscular child whose height is at the 90th percentile, where it has been for 6 months, and whose weight is above the 95th percentile. His gonads are prepubertal in size, measuring 2.1×0.9 cm on the right and 2.0×0.8 cm on the left. His penis is 5.2 cm in length, and there is sparse pubic hair (Sexual Maturity Rating 2). The remainder of the physical findings are normal.Laboratory evaluation includes a complete metabolic profile that is within normal limits. His testosterone concentration is 64 ng/dL (2.22 nmol/L) (normal prepubertal range, 3 to 10 ng/dL [0.1 to 0.35 nmol/L]) and androstenedione, dehydroepiandrosterone sulfate (DHEAS), and 17-hydroxyprogesterone values are normal. An 11-hydroxylase deficiency screen also yields normal results. Serum gonadotropin concentrations are in the prepubertal range. His bone age is 6 years. Ultrasonography of the abdomen and testes shows normal findings. Additional history reveals the diagnosis.A 7-year-old boy is evaluated for intermittent but troublesome symptoms over the past few months that consist of chest pain; a feeling that his heart is beating fast; tiredness on activity; pallor; and cyanosis of his palms, face, and lips. He has had no chest trauma, and a review of systems reveals only treatment for dental caries.The boy was born at 34 weeks of gestation, had no neonatal problems, and was adopted soon after birth. A ventricular septal defect was diagnosed that closed spontaneously by the age of 6 months.On physical examination, the boy is alert and in no distress. His height is at the 3rd percentile, and his weight is below the 3rd percentile. He has no cyanosis and is not pale. His heart rate is 82 beats/min, with normal cardiac findings and peripheral pulses, and his temperature, blood pressure, and respiratory rate are normal. Examination of his chest shows no tenderness or skin lesions. All other findings are normal.The boy's oxygen saturation is 98%. Echocardiography shows a normal heart. Results of CBC, peripheral blood smear, and electrolyte measurement are normal. A simple investigation gives a clue to the diagnosis, which is confirmed by another test.A bedside feeding assessment by an occupational therapist revealed increased congestion and upper airway sounds without cough during feeding. Subsequently, asymptomatic (“silent”) aspiration was confirmed during a videofluoroscopic swallow study (VFSS). Endoscopic evaluation of the upper airway and MRI of the head yielded normal findings. Treatment was initiated with thickening of feedings, which resulted in weight gain and resolution of the fever, pulmonary signs, and radiographic abnormalities.Silent aspiration describes aspiration without cough or obvious acute distress. (1) Infants and young children afflicted with this disorder are at increased risk of developing aspiration-induced chronic lung disease, malnutrition, and neurodevelopmental problems. Pulmonary failure due to chronic aspiration is a leading cause of death in children who have severe neurologic impairment. Silent aspiration commonly is associated with aspiration from below (due to GERD). Investigations such as 24-hour pH monitoring can be helpful in excluding this condition.Silent aspiration can be due to aspiration from above (related to dysphagia) and often is associated with underlying conditions such as prematurity, global neurologic dysfunction, or anatomic anomalies of the upper aerodigestive tract. These conditions put the child at risk for aspiration by interfering with the complex neuromuscular and airway coordination involved in swallowing. However, several studies have suggested that aspiration can occur from oropharyngeal dysfunction in children who have none of these risk factors. Most affected children develop symptoms in the first postnatal year, and many outgrow the condition by the preschool years. (2) Radiographic aspiration in children who aspirate while in a supine position (infants, neurologically impaired children) frequently affects the upper lobes or perihilar regions, but bilateral basilar findings can occur in children who aspirate while in an upright position.Silent aspiration should be considered in children who experience unexplained recurrent chest infections or who have a history of wheezing or congestion after feedings. Aspiration also should be considered in children who have respiratory symptoms and a history suggestive of GERD. Less commonly, silent aspiration can present with recurrent undiagnosed fevers, perioral cyanosis or vocal changes with feedings, failure to thrive despite adequate nutritional intake, feeding aversion, or poor control of secretions.A comprehensive clinical assessment that involves a history, risk factors, and a bedside feeding evaluation by an experienced occupational therapist or speech-language pathologist has been shown to have 92% sensitivity and an 89% negative predictive value for diagnosing aspiration of fluids in children. (3) This assessment can prevent the need for the radiation exposure and cost of additional radiologic assessment in many children. It should be noted, however, that the accuracy of the evaluation depends on the experience of the specialist; speech pathologists or occupational therapists who are highly trained in this area are not immediately available in all locations.VFSSs are dynamic radiographic examinations of food passing from mouth to pharynx and are considered the “gold standard” for diagnosing aspiration from above in patients who have a positive screening assessment. Findings from the VFSS also can help clinicians identify safe feeding strategies if the child only aspirates foods of certain consistencies.Recommended management depends on the underlying cause of the aspiration. For children who have GERD, optimal medical management is successful in many patients and often includes the use of acid suppression with histamine-2 receptor antagonists or proton pump inhibitors. Occasionally, prokinetic agents can be helpful, although the evidence for the effectiveness of many of these drugs is weak. Surgical options such as fundoplication and enterostomy tube insertion are viable alternatives for patients who cannot be managed medically.If the primary problem is dysphagia, a variety of dietary modifications can be employed. Thickening of liquids often is helpful. Other therapies include changing the feeding position (upright versus reclined), slowing the pace of feedings, and altering the feeding schedule (small and more frequent meals). For those patients who do not respond to these therapies, a referral to a multidisciplinary feeding and swallowing program is suggested.Silent aspiration should be considered in children who have pulmonary symptoms of unclear cause, particularly those who have risk factors such as GERD, prematurity, or global neurologic dysfunction. Prompt identification can lead to simple therapies that can reduce the degree of aspiration. (Eyal Cohen, MD, Oscar M. Navarro, MD, The Hospital for Sick Children, Toronto, Ontario, Canada)All diagnostic studies yielded normal results, with the exception of the elevated testosterone concentration, which suggested exposure to androgens. Additional history revealed that the boy's father had been applying 1% testosterone gel to his chest for the past 4 years for “malaise, fatigue, and a low testosterone level.” He usually applied the cream in the morning and slept without a shirt at night. The boy often slept with his parents. After this discovery, the father switched to a testosterone patch and began wearing a shirt before going to bed. Follow-up examination of the boy 4 months later showed Sexual Maturity Rating 1 pubic hair and a phallus measuring 4.2 cm. The testosterone concentration had decreased to a normal prepubertal value (4.5 ng/dL [0.16 nmol/L]), confirming the diagnosis of exogenous androgen exposure.Precocious puberty is defined as the onset of physical signs of sexual development prior to the accepted age of sexual maturation. True precocious puberty consists of the development of secondary sexual characteristics together with increased growth velocity and advanced bone age. For boys of any ethnic background, development before age 9 years is considered precocious. For girls, pubertal onset previously was considered precocious prior to the age of 8 years, but recent studies suggest an earlier onset, especially in African-American and Mexican-American girls.Early sexual development can be categorized into several subtypes. Premature pubarche, characterized by isolated pubic hair growth, adult body odor, and acne, often is used interchangeably with the term early adrenarche. Increased adrenal androgens, such as dehydroepiandrosterone (DHEA) and DHEAS in girls and adrenal and gonadal androgens in boys, cause pubarche. Premature thelarche is isolated breast development in girls and typically is benign.The etiology of precocious puberty can be subdivided into central or peripheral causes. Central or gonadotropin-dependent precocious puberty is caused by premature activation of the hypothalamic-pituitary-gonadal axis. Central precocious puberty is idiopathic in 90% of girls, but a CNS cause is detected more frequently in boys. CNS causes include hypothalamic hamartoma, other CNS tumors, infection, head trauma, hydrocephalus, third ventricle cyst, neurofibromatosis, and cranial radiation. The differential diagnosis for peripheral or gonadotropin-independent early pubertal changes includes congenital adrenal hyperplasia, adrenal tumors, gonadal tumors, McCune-Albright syndrome, familial male precocious puberty (testotoxicosis), and exogenous androgens.Evaluation of early pubertal changes should begin with a history investigating the onset and progression of puberty, exposure to hormones, presence of CNS symptoms, and family history. Physical examination should include blood pressure measurement and evaluation of the skin and fundi as well as developmental staging of the genitalia. Testicular volume is increased in central precocious puberty, as it is in normal puberty. The testes usually are prepubertal in size if there is an extragonadal source of androgens. A gonad may be enlarged unilaterally if a tumor is present.The growth chart should be studied for increasing growth velocity. A bone age radiograph typically is advanced more than 2 years beyond the chronologic age in true precocious puberty. Initial laboratory studies should include measurement of follicle-stimulating hormone, luteinizing hormone, estradiol (for females), testosterone (for males), androstenedione, and DHEAS. DHEA and DHEAS concentrations may be elevated markedly in adrenal tumors. Patients who experience isolated premature pubarche have normal bone ages and growth rates as well as early adrenarchal concentrations of DHEA, DHEAS, and androstenedione. To rule out congenital adrenal hyperplasia, 17-hydroxyprogesterone should be measured. Additional evaluation may include an MRI if central precocious puberty is suspected as well as abdominal and pelvic or testicular ultrasonography.Physicians must be aware of the many hormone-containing products that can be obtained without a prescription. Androgen-containing products are used for many different indications, such as body building and treatment of hair loss. They are taken by some individuals to increase libido and energy and to slow aging.Many prescription and nonprescription sources of estrogen are available as well, such as hair products. There are case reports of such products causing precocious puberty in female children and gynecomastia in male children. Many parents do not consider these products medications and may not mention their use if not asked directly. Parents should be counseled to use these products correctly; elevated testosterone concentrations have been demonstrated in sexual partners of men using testosterone gel as well as in exposed children.Studies have shown that approximately 50% of the testosterone gel can be recovered from unwashed skin 8 hours after application. According to one package insert, the product should be applied to the shoulders, upper arms, or abdomen, and when the skin is dry, the area should be covered. Users should wash their hands thoroughly after application. These precautions can prevent unintentional exposure. Long-term exposure to exogenous androgens can cause virilization and advanced skeletal maturation, resulting in decreased adult height. When identified, exogenous sources of androgens should be removed; thereafter, the signs of virilization will be reversed.This case illustrates the importance of taking a thorough history. A comprehensive diagnostic evaluation served to rule out many possible causes of this patient's pubic hair growth, but a detailed history was necessary to make the correct diagnosis. (Erica Reynolds, MD, Robert P. Schwartz, MD, Wake Forest University School of Medicine, Winston-Salem, NC)This boy's constellation of symptoms warranted the performance of an ECG, which showed a corrected QT interval (QTc) of 0.464 seconds. The T wave was generated slowly and notched. Twenty-four hour ambulatory ECG monitoring showed that the maximum QTc was 0.548 seconds, and the incidence of average QTc intervals of more than 0.45 seconds was 59%. He was diagnosed as having long QT syndrome (LQTS) and was started on propranolol. He became symptom-free and is followed regularly. His biologic family was not available for history or screening.Chest pain is not an uncommon symptom in childhood, but cardiac causes are rare, the most common one being pericarditis. Other causes of chest pain in children include aortic stenosis and regurgitation, anomalous origin of coronary arteries, cardiomyopathy, mitral valve prolapse, Kawasaki disease, pleurisy, pleurodynia, costochondritis, chest trauma, and psychological problems. The physical conditions were ruled out by history, physical examination, and investigations for this patient. The excellent family dynamics noted during the interview did not rule out a psychological cause, but made it less likely.Chest pain is an unusual complaint in children who have LQTS, although it could result from an arrhythmia. This boy's feeling of a rapid heartbeat, fatigue, pallor, and reported color changes also could have resulted from a rhythm disturbance. Given his diagnosis of LQTS, he would have had to be experiencing torsade de pointes/multimorphic ventricular tachycardia. This scenario is possible, although such a dysrhythmia was not demonstrated on tracings. It also is possible that his symptoms were not caused by his LQTS but led to the discovery of that condition because they suggested a rhythm disturbance.LQTS, a condition in which the QTc is prolonged, occurs in both congenital and acquired forms. QTc is calculated by using the Bazett formula: observed QT interval (in seconds) ÷ square root of the previous RR interval (in seconds).The QT interval represents the period of activation and recovery of the ventricular myocardium. When recovery is prolonged from electrical excitation, some part of the myocardium might be refractory to subsequent depolarization. This physiologic state predisposes to circus re-entrant rhythm and polymorphic ventricular de leading to ventricular and ventricular This rhythm may spontaneously but also can to cardiac death is the most severe in young individuals who have of After successful neurologic may the clinical of the cardiac and cause There are of the of LQTS, as syndrome, other and of the as and syndrome of congenital LQTS is to be 1 in to with no of patients who have congenital LQTS are asymptomatic but are at risk for The other have symptoms, seizures, and often by or but spontaneously or during or of followed by a suggest The findings on physical examination may be although some patients may have of asymptomatic patients are diagnosed during a family screening when another has been diagnosed as having LQTS or because there is a family history of recurrent death syndrome, cardiac unexplained or death due to There may be a history of in a or family when is present.The of and are There is a physiologic increase in QTc during the postnatal that the and third months, to values by 6 The upper of normal values for QTc during the first after is seconds, and in early 0.45 seconds. of the suggest that or those having in different are to have severe of LQTS, with early and of drugs have been associated with of the QTc and include agents agents agents and agents This is a but not such as acute chronic and can the QTc conditions associated with LQTS include complete heart head trauma, and first in a child suspected of having LQTS is to an for ECG are as or being a of a who has been diagnosed as having family history of individuals having symptoms as unexplained and which occurs in and ECG that on the QTc and T wave are most A QTc than seconds has a predictive value of more than For those than age years, a QTc of to seconds is considered Twenty-four hour ambulatory ECG monitoring or ECG is to the diagnosis. to of patients who have LQTS may present with normal have a upper of normal for QTc than do may be in slowly generated on of T wave slowly generated T and T after prolonged occurs in the on ECG the different of of and for the of LQTS being present is in in this 24-hour ECG monitoring or ECG often is to a complete of the patient's rhythm a ECG does not an but one is 24-hour ECG monitoring might as in this An ECG is a test for the signs of LQTS, and some ECG or monitoring findings with an concentrations of and should be measured. Echocardiography is to may be to rule out other medical conditions on the clinical findings. A detailed history is additional into the underlying but may identify only 50% of affected A negative result does not rule out such as and can prevent cardiac in of patients who have of with or without may be Treatment the from 50% to The of is is for affected patients to a by the University of a comprehensive of drugs also should be are A may be used when the child out to or and of their and are is a condition that must be considered when a child presents with cardiac or or when there is a family history of death syndrome, congenital unexplained or this symptoms unusual for LQTS suggested a rhythm which was confirmed by additional is an but if the ECG a ECG or 24-hour ambulatory ECG monitoring should be obtained when LQTS is may be if Prompt of and are MD, of of with the medical and the in Hospital and who in the management of this boy and on

Récupéré en direct depuis OpenAlex et désinversé. Les résumés ne sont pas conservés dans cette base de données : les index inversés représentent 8,6 Go des 9,3 Go de texte de la base, et le serveur dispose de 13 Go libres.