The pediatrician plays a pivotal role in the initial diagnosis of food allergy. Alternative diagnoses are considered as a careful history, physical examination, and directed laboratory tests determine the type of adverse reaction and the responsible food. Through elimination diets in infants, appropriately selected tests for specific IgE, and, in some cases, supervised oral food challenges, a diagnosis is secured. Treatment consists of strict dietary elimination with provisions for emergency management of accidental ingestions. Referral to an allergist and dietitian is made as warranted by the severity and type of allergy and for follow-up for possible resolution of the allergy. The pediatrician also provides information to the family for the prevention of allergy in at-risk newborns. Future diagnostic tests and treatment modalities are likely to simplify the management of the food allergic child.
ntersexuality comprises a rare but important group of disorders, which usually present at birth with genital ambiguity. The most familiar disorder is congenital adrenal hyperplasia (CAH), about which the pediatrician has a unique perspective regarding the complex management problems these patients often present. The role of the pediatric urologist in these cases is often solely to perform some form of feminizing genitoplasty when such a procedure is deemed appropriate. Among the remaining disorders, which, although individually rare, together make up a substantial proportion of the intersex population, the pediatric urologist brings a particular expertise to bear. This derives from a familiarity with a variety of genital appearances, ranging from female infants with a cloacal or urogenital sinus anomaly to males with hypospadias of varying degrees of severity. Surgeons also have a unique experience of the variability of internal duct and gonadal anatomy as seen at laparotomy or laparoscopy, upon which a definitive diagnosis will often be based. The purpose of this article is to provide a brief overview of normal sexual differentiation and indicate how aberrations along this pathway can lead to genital ambiguity in both the female and the male. A comprehensive classification of intersex disorders is then presented based on gonadal histology, which is both conceptually simple and clinically relevant. In this era of cost containment, a shotgun approach to investigation no longer seems appropriate. Instead, a rational sequence, based on the physical findings, is proposed. Certain conditions with specific surgical implications are then reviewed, and finally, an attempt is made to bring clarity to the present confusion swirling around the question of gender assignment and the place of feminizing genitoplasty among infants to be raised as girls.
Over 1000 medications are in common usage today. Approximately 700 of these are associated with a variety of cutaneous eruptions. The vast majority of cutaneous drug reactions in children are of 5 types: exanthems, fixed drug reactions, urticarial eruptions, serum sickness-like reactions, and photosensitive eruptions. Among healthy children, adverse drug reactions are generally uncommon and usually minor. Common, serious, and interesting cutaneous drug eruption patterns are discussed in this monograph, with an emphasis on practical information for dermatologists who care for pediatric patients. (Curr Probl Dermatol 2002;14:147-182)
!D he term describes the clinical state characterized by the presence of proteinuria, hypoalbuminemia, and edema. Although other clinicopathologic findings coexist with these 3, they remain the central findings in nephrotic syndrome. Both edema and proteinuria have been known clinically for nearly 2000 years. Richard Bright first demonstrated that edema and proteinuria were dependent on changes in the kidney in 1827, and for the next 80 years, nephrotic syndrome was known as Bright's disease? '1 In 1905 Friedrich yon Muller further delineated kidney diseases into nephritis and nephrosis, and finally in 1929 Henry Christian included the phrase in his writings.1 Whereas the name took millennia to emerge, its clinical course had been known for some time. Although many patients died of their disease, many physicians knew that edema might be cured or even remit spontaneously, l In the 18th and 19th centuries, treatments for nephrotic syndrome included mercury-containing compounds, as well as the induction of malaria or measles. 1 The mortality rate for children with nephrotic syndrome in this precorticosteroid period was 67%. 2 Then, in 1939 and again in 1944, with the introduction of sulfonamides and penicillin, respectively, patients with nephrotic syndrome survived longer, and the mortality rate declined to 42% and then 35 %, respectively. 2 After the
Abdominal emergencies in neonates require surgical management in almost all cases and complications may include bowel perforation, sepsis, shock, and even death. Radiological imaging has become a very important aid in the clinical setting as it shortens time to diagnosis.The objective of this review is to discuss the more prevalent neonatal gastrointestinal emergencies, review appropriate imaging options, and illustrate common radiological presentations of these entities.Despite advancements in imaging techniques, it is important to keep in mind that neonates have a higher susceptibility to the adverse effects of ionizing radiation, and therefore radiography and ultrasonography remain the main diagnostic modalities for ruling out the diseases with the worst prognosis. Other modalities (fluoroscopy, computed tomography, and magnetic resonance imaging) may have limited use in very specific conditions. All providers in an emergency department should be familiar with the basic radiological findings that may indicate a gastrointestinal emergency, especially in health institutions that do not have 24-h radiologist coverage.
A number of scientific breakthroughs since H pylori first became recognized as a human pathogen have increased our understanding of the pathogenesis of gastroduodenal disease. In particular, advances in molecular bacteriology and the complete sequencing of the H pylori genome in 1999, and soon thereafter the human genome, provide tools allowing better delineation of the pathogenesis of disease. These molecular tools for both bacteria and host should now be applied to multicenter pediatric studies that evaluate disease outcome. More recent developments indicate that a better understanding of the microbial-host interaction is critical to furthering knowledge with respect to H pylori-induced diseases. Studies are needed to evaluate either DNA-based or more traditional protein-based vaccines, to evaluate more specific antimicrobials that confer minimal resistance, and to evaluate probiotics for the management of H pylori infection. Multicenter multinational studies of H pylori infection in the pediatric population, which include specific, randomized controlled eradication trials, are essential to extend current knowledge and develop better predictors of disease outcome.
NTDs, resulting from failure of the neural tube to close during the fourth week of embryogenesis, are the most common severely disabling birth defects in the United States, with a frequency of approximately 1 of every 2000 births. Neural tube malformations involving the spinal cord and vertebral arches are referred to as spina bifida, with severe types of spina bifida involving protrusion of the spinal cord and/or meninges through a defect in the vertebral arch. Depending on the level of the lesion, interruption of the spinal cord at the site of the spina bifida defect causes paralysis of the legs, incontinence of urine and feces, anesthesia of the skin, and abnormalities of the hips, knees, and feet. Two additional abnormalities often seen in children with spina bifida include hydrocephalus and the Arnold-Chiari type II malformation. Despite the physical and particular learning disabilities children with spina bifida must cope with, participation in individualized educational programs can allow these children to develop skills necessary for autonomy in adulthood. Advances in research to uncover the molecular basis of NTDs is enhanced by knowledge of the link between both the environmental and genetic factors involved in the etiology of NTDs. The most recent development in NTD research for disease-causing genes is the discovery of a genetic link to the most well-known environmental cause of neural tube malformation, folate deficiency in pregnant women. Nearly a decade ago, periconceptional folic acid supplementation was proven to decrease both the recurrence and occurrence of NTDs. The study of folate and its association with NTDs is an ongoing endeavor that has led to numerous studies of different genes involved in the folate metabolism pathway, including the most commonly studied thermolabile mutation (C677T) in the MTHFR gene. An additional focus for NTD research involves mouse models that exhibit both naturally occurring NTDs, as well as those created by experimental design. We hope the search for genes involved in the risk and/or development of NTDs will lead to the development of strategies for prevention and treatment. The most recent achievement in treatment of NTDs involves the repair of meningomyelocele through advancements in fetal surgery. Convincing experimental evidence exists that in utero repair preserves neurologic function, as well as resolving the hydrocephalus and Arnold-Chiari malformation that often accompany meningomyelocele defects. However, follow-up is needed to completely evaluate long-term neurologic function and overall improved quality of life. And in the words of Olutoye and Adzick, "until the benefits of fetal [meningomyelocele] repair are carefully elucidated, weighed against maternal and fetal risks, and compared to conventional postnatal therapy, this procedure should be restricted to a few centers that are committed (clinically and experimentally) to investigating these issues."
_• udden infant death syndrome (SIDS) is defined as the sudden death of an infant that is unexpected by history and unexplained by a thorough postmortem examination that includes a complete autopsy, investigation of the scene of death, and review of the medical history. 1 The basic definition was established in 1969, and the scene investigation and clinical history review components were added in 1989. SIDS was the third leading cause for infant mortality in the United States in 1998 (preliminary data), ranked below congenital anomalies (22%) and disorders relating to short gestation/low birth weight (14%) and accounting for 2529 infant deaths (8.9%). 2 SIDS comprises about 80% of all sudden unexpected deaths in infancy (SUDI), 2,3 but a thorough postmortem examination is required to exclude undiagnosed natural causes of SUDI, such as infection (sepsis, meningitis), congenital anomalies (cardiac or central nervous system), and metabolic diseases (eg, medium chain fatty acid disorders). Within a cohort of 397 individuals with SUDI that occurred at age 1 week to 1 year, 3 72 deaths (18%) were explained, and these natural causes included infection in 46%, unintended injury in 15%, and congenital anomalies in 14%, In another report of 623 SUDI that occurred at age 1 week to 18 months and that excluded accidental deaths, 125 (20%) were explained, 4 and these natural causes included infection in 35% and congenital anomalies in 24%. An accidental cause of death is typically indicat-
D he accumulation of visible squamae on the skin's j surface is seen in a variety of acquired and genetically-determined dermatoses and denotes epidermal involvement in the disease process. The primary function of the epidermis is to generate a stratum corneum (SC) that can provide a protective permeability and mechanical barrier. Because the included under the older, umbrella term ichthyosis result primarily from genetic defects that affect SC formation, function, or maintenance, they can be considered disorders of cornification. Elucidation of the pathogenic consequences of each of these mutations promises to greatly augment Current knowledge of both normal skin homeostasis and of the pathophysiology of more common dermatoses. We intend here to review key SC structural constituents, emphasizing those components in which genetic defects are associated with scaling phenotypes (Figure).
B large congenital melanocytic nevus (LCMN), defined herein as a nevus present at birth that is predicted to be at least 20 cm in greatest diameter in adulthood, occurs infrequently. Approximately one in 20,000 infants, amounting to 200 newborns per year in the United States, is born with a LCMN. In addition, one in 500,000 newborns, translating to 10 infants, is born each year with very large LCMN of the garment or bathing-trunks type. 1 The implications for the affected infant are significant. Beside cosmetic disfigurement, a LCMN increases an individual's risk for developing malignant melanoma (MM), and may be associated with neurocutaneous melanocytosis (NCM). 25 There are many definitions for what constitutes a LCMN (Table 1). 6-13 As mentioned above, we elect to define LCMN based on the predicted maximum diameter of the nevus in adulthood: at least 20 cm. Congenital melanocytic nevi (CMN) generally enlarge in proportion to the growth of the skin coveting the involved area of the body. 14 Figure 1 depicts the graphs we use to predict the adult diameter of an infant's or child's CMN. 15 Clinically, LCMN can be light brown, dark brown, black, blue, or exhibit a combination of colors. The surface may be macular, papular, mamillated, hyperkeratotic, rugose, and/or nodular. The nevus may be hypertrichotic. 16 With time, LCMN may get darker or lighter, and rarely, completely disappear.5,! 6,17 LCMN can sometimes be associated with anomalies such as NCM, neurofibromatosis type I, occult spinal dysraphism, and/or the tethered cord syndromeJ 8 NCM may affect over 10% of patients with LCMN. 15 It is a s2cndrome with a poor prognosis for survival. According to one definition, NCM is characterized by the presence of an LCMN, or multiple (three or more) smallto medium-size CMN, accompanied by a benign and/or malignant melanocytic proliferation in the leptomeningesJ 9 Of the patients with central ner-
Infections and infestations of the skin form a large proportion of skin diseases in children, especially in the tropics, but also in temperate areas. In many instances, superficial skin infections can be self-limiting as long as there is no impairment of the immune system, but some infections are chronic even when the immune responses are intact. In this review, we will concentrate on primary skin infections and infestations that are common in Europe, those potentially serious if not recognised and those in which recent advances have altered approach to management.
