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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…

Movement Disorders in Childhood

The clinical evaluation of childhood movement disorders depends on the crucial step of phenomenology that precedes and guides evaluation and management. Historically, many of the chronic movement disorders were identified as phenotypic syndromes based on clinical presentation, associated symptoms, and disease course. With the growing availability of genetic testing, more of the underlying metabolic and heredodegenerative disorders causing chronic movement disorders are being identified, producing a…

Paroxysmal Disorders

Paroxysmal disorders can be broadly classified into epileptiform and nonepileptic events. The nonepileptic episodes are often referred to by the generic term spells . They may mimic epileptic seizures but are not associated with the typical rhythmic EEG patterns characteristic of seizures ( Table 39.1 ; see Chapter 40, Chapter 7 ). These spells can be a manifestation of myriad etiologies leading to transient loss of…

Hypertonicity

Definitions Tone is defined as resistance to passive stretch while a patient is attempting to maintain a relaxed state of muscle activity. Tone can be divided into postural tone, which represents the steady flexion or extension of a joint caused by the uniform resistance of muscle to passive movement, and phasic tone, which represents the catch when an extremity is rapidly flexed or extended. Hypertonia describes…

Stroke

Stroke is a sudden focal neurologic syndrome caused by an abrupt and critical interruption of the normal metabolic function of the central nervous system (CNS), typically due to ischemia or hemorrhage. Depending on where in the CNS this interruption occurs, the symptoms of stroke can be striking, such as acute lateralized weakness, though at times are subtle, mimicking other and sometimes more benign neurologic processes or…

Rhabdomyolysis

Rhabdomyolysis Rhabdomyolysis is an acute muscle injury resulting in myocyte cell death with subsequent release of toxic intracellular compounds producing muscle and systemic symptoms. This differs from hyperCKemia, in which there is elevated creatine kinase in the serum secondary to dysfunction of the myocyte sarcolemma. These diagnoses represent a broad category of disease processes with a large differential diagnosis. The difficulty lies in differentiating between the…

Hypotonia and Weakness

Muscle Weakness and Hypotonia As a symptom, hypotonia may be overt in its presentation, with the manifestations of low muscle tone apparent to family and the medical team alike. Other times, hypotonia may be insidious, subtly presenting to an examiner during a medical evaluation and only rising to the awareness of family when delays or regressions in milestones are pointed out in the process of obtaining…