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Congenital Cutaneous Lesions and Infantile Rashes

Rashes ( Table 60.1 ) Papules and Pustules—Diffuse or Scattered Erythema toxicum is a benign condition that occurs in 30–70% of White full-term infants. Erythema toxicum occurs less frequently in premature infants. The eruption is characterized by blotchy, erythematous macules or patches with central papules, pustules, or vesicles that give the infant a “flea-bitten” appearance ( Fig. 60.1 ). The lesions develop most commonly between the…

Acid–Base and Electrolyte Disturbances

The presence of an acid–base or an electrolyte disorder may explain a patient’s symptoms or may lead to a specific diagnosis. Acid–Base Balance Normal acid–base balance is maintained by the lungs and kidneys. Carbon dioxide, a by-product of normal metabolism, is a weak acid. The lungs are able to prevent an increase in the partial pressure of carbon dioxide (P co 2 ) in the blood…

Polyuria and Urinary Incontinence

Polyuria and Urinary Incontinence Urinary incontinence is a normal developmental stage. When present beyond a certain age defined by parental and societal expectations, it can cause concern and anxiety in the patient and family. Urinary incontinence can also be a symptom of significant pathologic processes. The challenge to the clinician is identifying the child with an organic disorder among the many who are proceeding along a…

Hypoglycemia

Hypoglycemia, although rare in children beyond the newborn period, is an acute, life-threatening medical emergency that may result in seizures, permanent brain injury, or even sudden death. Hypoglycemia may represent a serious underlying disorder due to hormonal deficiencies, metabolic defects, genetic disorders, drugs, or toxins. Therefore, to evaluate hypoglycemia either in a child or newborn, a comprehensive strategy for diagnosis and treatment is crucial. Hypoglycemia occurs…

Short Stature

Short stature (usually defined as height >2 standard deviations [SD] below the mean for age) and growth failure (a subnormal height velocity that leads to decline in growth percentiles, usually height velocity >1.5 SD below the mean for age) are symptoms, not diseases . Of the two, short stature is more likely to be noticed, but growth failure is more likely to be pathologic . Short…

Disorders of Puberty

Puberty is defined by both biologic and social standards. Puberty is the time when there is an increase in sex steroid production, resulting in physical changes such as breast development in females and testicular enlargement in males, as well as maturation of processes required for future fertility. Puberty, also known as adolescence, is the time when children make the transition to adult patterns of behavior, which…

Recurrent Fever, Immune Deficiency, and Autoinflammatory Disorders

The immune system functions to prevent and impede the local establishment or systemic dissemination of bacteria, viruses, fungi, and protozoa. This highly complex system has to recognize the pathogen, initiate inflammation, and generate antibodies and T-cell responses with the goal of clearing the pathogen while retaining immunologic memory toward the pathogen. Furthermore, it must accomplish this task without excessive inflammation or the development of autoimmunity, both…

Fever and Rash

The coexistence of fever and rash suggests a relatively wide spectrum of pathologic entities for diagnostic consideration. This spectrum includes local or systemic infection with a wide range of microbial pathogens; toxin-mediated disorders, including those associated with bacterial superantigen production; inflammatory conditions including vasculitides and rheumatologic diseases; and hypersensitivity disorders. While most conditions causing fever and rash are benign and self-limited, a thorough clinical evaluation is…

Fever

Fever is a common symptom associated with a range of infectious and noninfectious etiologies. Two-thirds of all children visit a physician for fever before they reach the age of 2 years. The appropriate evaluation for fever depends on age, duration of illness, comorbidities, and associated signs and symptoms. The etiology of fever is often revealed with careful history and physical examination, though the precise microbiologic or…

Bleeding and Thrombosis

Hemostasis is a process that maintains normal blood flow through healthy vessels but, when a vessel is damaged, rapidly generates a platelet plug (primary hemostasis) and subsequent thrombin clot (secondary hemostasis) at the site of vascular injury. The major components of the hemostatic mechanism are the platelets, the anticoagulant proteins, the procoagulant proteins, and the various components of the vascular wall. Normal hemostasis is an interactive…

Pancytopenia/Aplastic Anemia/Bone Marrow Failure

Pancytopenia is defined by a decrease in all peripheral blood cell lines, including leukocytes, red blood cells (RBCs), and platelets. All of these cells are produced by the bone marrow, and therefore an evaluation of the bone marrow is often required ( Table 50.1 ). Aplastic anemia is a serious cause of pancytopenia with multiple etiologies ( Tables 50.2 and 50.3 ). TABLE 50.1 Differential Diagnosis…

Pallor and Anemia

Pallor, a perceptible reduction in the usual color and tone of the skin and/or mucosa, is a highly nonspecific finding that may be a manifestation of a diversity of diseases or may be normal for a given individual. It may result from alterations of cutaneous blood flow, anemia, or unknown mechanisms. Under normal circumstances the pink appearance of the lips, mucosa, and skin is influenced by…

Lymphadenopathy and Neck Masses

Given the role of the lymphatic system in developing adaptive responses to numerous antigenic challenges and the rate at which the immune system is exposed to novel antigens early in life, enlarged lymph nodes are regularly encountered both incidentally and within the context of many childhood illnesses. The challenge for the clinician is determining when a change in the size or quality of a lymph node…

Hypermobility

It is estimated that up to 25% of the population reports the presence of joint hypermobility, but a quarter of the population does not have an associated connective tissue disorder, nor is the increased mobility deemed a health concern; nonetheless, hypermobility may be associated with a connective tissue disorder. In addition, there is a vast spectrum of comorbidities attributed to the presence of hypermobility ( Fig.…

Back Pain

The incidence of pediatric back pain increases with age and has a prevalence of nearly 40% by 18 years of age. While back pain is often related to overuse in sports, work, or a specific traumatic event, it may also be idiopathic, infectious, inflammatory, neoplastic, or secondary to anatomic lesions. While back pain may be mild and resolve spontaneously in athletically active adolescents, back pain in…

Gait Disturbances

Most gait disturbances are benign and resolve with normal growth and development. Others are pathologic in origin and necessitate treatment ( Table 45.1 ). TABLE 45.1 Causes of Gait Disturbances Mechanical Acute injuries (accidental or nonaccidental) Overuse conditions (mainly sports-related) Dysplastic lesions Limb length discrepancy Osseous Legg-Calvé-Perthes disease Osteochondritis dissecans of knee and talus Slipped capital femoral epiphysis Osteomyelitis Diskitis Osteoid osteoma or other primary bone…

Arthritis

Musculoskeletal complaints are among the most frequent reasons for children to present to a primary care office, walk-in clinic, or emergency room. While the child and parents may be focusing on what they perceive to be a localized problem, complaints involving the musculoskeletal system (e.g., arthralgia, myalgia, joint swelling, poorly localized extremity pain, limping, or refusal to walk) may be associated with a long list of…

Eye Disorders

Eye and Visual System Anatomy The anatomies of the eye and visual system are shown in Figs. 43.1 and 43.2 . The optic nerves, made up of the converging nerve fiber layer of the retina, have intraocular, intraorbital, intracanalicular, and intracranial portions. Partial decussation of the optic nerve fibers occurs in the chiasm, which gives binocular visual input to each side of the brain. The visual…

Encephalitis

Encephalitis , or inflammation of the brain, and myelitis , or inflammation of the spinal cord, cause myriad symptoms and signs because of the subtle behavioral phenotypes and varying locations of the inflammation. The lesions are hard to categorize or quantify and are not generally accessible to biopsy. The challenge in relatively nonverbal children compounds the problem. Encephalopathy , or dysfunction of alertness, attention, cognition, and…

Altered Mental Status

Altered Mental Status Altered mental status (AMS) refers to a broad range of nonspecific symptoms indicating a change in brain function from a patient’s baseline and can include confusion, alteration in consciousness, disorientation, decreased awareness, amnesia, and change in behavior. Accurate diagnosis and management rely on rapidly characterizing the change in mental status and prioritizing the identification of life-threatening causes. AMS can be divided into hyperactive…