Index of Suspicion

A 7-year-old boy is seen in the ED for a febrile illness. Four days ago, he experienced 24 hours of fever (up to 104°F [40°C]), rigors, right upper quadrant abdominal pain, frontal headache, and decreased oral intake. He was diagnosed as having a viral illness. He improved slightly, but the fevers have returned after 4 days. The boy's family had emigrated from a refugee camp in Malawi 1 week before the onset of illness. He had been well previously, his only illness contact being his father, who had been afflicted with malaria 9 months earlier. The boy's immunization status is unknown.On physical examination, the child looks ill but not toxic. His temperature is 103.8°F (39.9°C), heart rate is 125 beats/min, respiratory rate is 24 breaths/min, and blood pressure is 109/58 mm Hg. Both liver and spleen edges are palpable 3 cm below the costal margin, and mild right upper quadrant abdominal tenderness is present. No jaundice or rashes are noted, and his other physical findings are normal.Laboratory tests show normal concentrations of electrolytes and measures of renal and liver function. His WBC count is 3.5×103/mcL (3.5×109/L) (neutrophils 40%, bands 16%, lymphocytes 37%, monocytes 7%), Hgb concentration is 10.9 g/dL (109.0 g/L), and platelet count is 260.0×103mcL (260.0×109/L). Thick and thin blood smears are negative for malaria. An additional diagnostic test reveals the cause of his illness.An 18-year-old African American girl has had pain, redness, and photophobia in her left eye for 1 week. For the last 3 days, she also has experienced blurred vision and floaters in her left eye. Today she has noted worsening vision in that eye. She has no concerns about her right eye. She denies any trauma to the left eye, headache, vomiting, or other neurologic symptoms, and she has been healthy otherwise. She is sexually active and has a history of Chlamydia infection that was treated 2 months ago.On physical examination, the girl is alert and oriented. Her initial eye examination reveals bilaterally dilated pupils, possibly iatrogenic from an ED visit 2 days earlier. She has 20/60 vision in the left eye, which is injected and tender with palpation of the globe. On detailed examination by the ophthalmologist, the left eye has increased intraocular pressure, and keratic precipitates (accumulation of inflammatory cells on the cornea) are seen in the anterior chamber. Funduscopic examination of the same eye shows choroiditis, vitreous hemorrhage, and yellow patches in the periphery of the retina. The right eye vision, intraocular pressure, and funduscopic findings are normal. All other physical findings are normal. A series of blood tests and aqueous humor sampling leads to the cause of her eye condition.A 10-month-old boy presents to the genetics clinic for evaluation of growth failure and mildly dysmorphic facial features. His birthweight was low at 2.0 kg (below the 3rd percentile) after an uncomplicated 38-week pregnancy. The mother is a healthy 25-year-old G2P2 woman. Past medical history reveals only bilateral middle ear fluid, which resolved with the placement of myringotomy tubes at 5 months of age. The pediatrician noted slightly dysmorphic facial features and was concerned about the poor weight gain despite adequate nutrition.The infant has met all developmental milestones. He takes no medications. He has a healthy 2-year-old brother, and his parents and grandparents are in good health. No family members have had failure to thrive. The parents are of Mexican ethnicity. There is no consanguinity.On physical examination, the infant's length is 65.9 cm, weight is 6.3 kg, and head circumference is 42.5 cm, all of which are below the 3rd percentile. He is small but does not appear malnourished and is smiling, playful, and interactive with examiners. He has a broad forehead with frontal bossing, mild periorbital fullness, slight upturning of the nose, a thin upper lip, and mild micrognathia. There are two posterior hair whorls. The remainder of the physical findings are normal. A new genetic test reveals the diagnosis.Blood cultures at admission and repeated 2 days later were positive for Salmonella typhi sensitive to ampicillin, trimethoprim-sulfamethoxazole (TMP-SMX), cefotaxime, and ciprofloxacin. Ampicillin and gentamicin were started empirically on admission but were replaced by intravenous (IV) cefotaxime after an initial Gram stain reading was reported after blood had been drawn for the second set of blood cultures. The patient showed clinical improvement, but remained febrile for 7 days, with temperatures as high as 105.8°F (41°C). Repeat cultures were negative. Echocardiography, bone scan, and liver ultrasonography showed no evidence of focal infection.The patient was discharged in an afebrile state after 10 days, having completed 8 days of cefotaxime therapy. He completed an additional week of oral ciprofloxacin treatment, administered because he did not tolerate other oral antibiotics. Serologic studies for human immunodeficiency virus; syphilis; cytomegalovirus; Epstein-Barr virus; and hepatitis A, B, and C were negative. Stool cultures and examination for ova and parasites were negative three times, both on and off antibiotics. Hemoglobin electrophoresis revealed sickle cell trait.Causes of acute fever in an emigrant or traveler from the developing world are broad and depend on the geographic location, living circumstances, and use of prophylactic measures. In addition to the respiratory and GI infections found among all children, common conditions include malaria, viral hepatitis, Dengue fever, and visceral leishmaniasis. Other considerations are tuberculosis, amebic liver abscess, brucellosis, leptospirosis, tularemia, and rickettsial diseases.Typhoid fever is the acute, systemic infection caused by Salmonella enterica Serovar typhi (S typhi). Typhoid fever is related to poor sanitation and overcrowding and is spread by fecal-oral contamination of food or water by individuals who are carriers for S typhi in either stool or urine. After surviving the gastric acid barrier, bacteria invade and penetrate the mucosa of the small intestine, likely through M cells of Peyer patches, then replicate inside phagocytes of liver, spleen, and lymph nodes. The asymptomatic incubation phase lasts 7 to 14 days. Organisms then are disseminated, especially to liver, spleen, bone marrow, biliary tree, and Peyer patches, resulting in clinical disease.Typhoid is endemic to many developing areas, particularly in southeast Asia, the Indian subcontinent, Africa, and Latin America. In 2000, there were more than 21 million illnesses and 200,000 deaths due to typhoid worldwide. Approximately 400 cases are reported annually in the United States, most of which are associated with international travel. Studies have shown that travelers visiting friends and relatives are at substantially higher risk than tourists.In endemic areas, the incidence of typhoid peaks at 5 to 19 years of age and in younger adults. Disease also occurs in children younger than 5 years of age and often is missed because it can present as a mild, viral-like illness. Complications of typhoid include perforation, GI bleeding, and encephalopathy. Neonatal disease from vertical spread is rare but life-threatening.Symptoms begin in the bacteremic stage, with fever and malaise. Temperature increases progressively and can exceed 104°F (40°C). Chills occur, but rigors are less common. Headache, anorexia, myalgias, and dry cough may be seen. Abdominal pain is common, and although adults often have constipation, diarrhea is more likely in children. An absence of abdominal or intestinal changes is not typical of typhoid.Physical findings are few, but include abdominal tenderness, hepatosplenomegaly, and a coated tongue. Rose spots (pink, blanchable maculopapular lesions that are 2 to 4 mm in diameter) are seen on the torso and abdomen, but occur in fewer than 20% of patients and are missed easily in more darkly pigmented patients. Relative bradycardia is not a consistent finding. Neonatal typhoid generally presents within 3 days of birth with fever, emesis, diarrhea, abdominal distention, pronounced hepatomegaly, jaundice, and sometimes, seizures.Blood cultures are the mainstay of diagnosis, although cultures of stool, duodenal secretions, blood buffy coat, and blood clots and biopsies of rose spots have been used. Bone marrow culture is more sensitive than blood culture due to higher numbers of bacteria in the marrow. Marrow cultures can be positive, even after several days of therapy. Stool cultures usually are negative until after 1 to 2 weeks of illness. The Widal test detects antibodies against O and H antigens of S typhi but produces highly variable results and lacks sensitivity and specificity, especially in endemic areas.Treatment includes hydration and correction of fluid-electrolyte imbalance, antipyretics, and antibiotics. The choice of antibiotic as well as the route and duration depends on the host, site of infection, and sensitivities of the organism. Multidrug resistant (MDR) strains, including resistance to ampicillin and TMP-SMX, emerged in the early 1990s and should be suspected, especially in any patient from northeast Africa and Asia.For adults, fluoroquinolones are superior in terms of cure rate, fever clearance, and carrier rates. Use of fluoroquinolones in treating children who have typhoid is off-label but should be considered if there are risks for MDR strains or if third-generation cephalosporins are not available. In the developed world, if MDR strains are suspected, IV cefotaxime or ceftriaxone for 14 days is appropriate. For non-MDR strains, combinations of IV or oral ampicillin, TMP-SMX, cefotaxime, and other agents can be used for a total of 7 to 14 days, depending on disease severity and clinical course. For severe typhoid with obtundation, stupor, coma, or shock, a 2-day course of IV dexamethasone may be life-saving.With prompt diagnosis and administration of antibiotics, the prognosis is excellent. Up to 10% of patients who contract typhoid fever excrete S typhi in the stool 3 months later, even after treatment and resolution of disease. A chronic carrier state, defined as fecal excretion of S typhi for 12 months or more, may develop. The risk of chronic carriage is less than 2% among children and increases with age to 4% among adults.Typhoid should be considered in patients from endemic areas who present with fever and abdominal symptoms. Children younger than 5 years of age, especially those who have a history of travel or exposure, deserve consideration of this disorder. Blood cultures are the diagnostic procedure of choice, with third-generation cephalosporins used for empiric treatment. Complications are rare with proper management. (Sergio Fanella, MD, Joanne Embree, MD, Winnipeg Children's Hospital, Winnipeg, Manitoba, Canada)The clinical presentation was consistent with acute retinal necrosis with panuveitis of the left eye. The girl was tested for antibodies against herpes simplex virus (HSV), Toxoplasma, varicella-zoster virus (VZV), cytomegalovirus (CMV), and Epstein-Barr virus (EBV). She had immunoglobulin G (IgG) and IgM antibodies against type 1 HSV (HSV-1). Subsequently, an aqueous humor sample was positive for HSV-1 by polymerase chain reaction (PCR) testing. She was treated with intravenous (IV) acyclovir for 14 days and continued on oral acyclovir for a total of 12 weeks. She underwent laser photocoagulation of the left eye after 2 weeks to prevent retinal detachment. On 3-month follow-up, she had a residual visual deficit in her left eye (20/40) but no involvement of the right eye.Acute retinal necrosis (ARN) was described initially by Urayama and colleagues in Japan in 1971. It is a fulminant type of necrotizing retinitis caused by members of the herpesvirus family and is characterized by anterior and posterior uveitis (panuveitis), vitreitis, diffuse retinal vasculitis, and late-onset retinal detachment. In the United States, ARN accounted for 5.5% cases of uveitis over a 10-year period. It usually affects healthy people ages 20 to 50 years, but can affect younger children, as well.Multiple members of the herpesvirus family have been implicated as the causative agents, including VZV, which accounts for most cases, HSV-1, HSV-2, and rarely, CMV and EBV. The pathogenesis of ARN remains to be elucidated. Both primary infection, probably through involvement of the anterior segment of the eye (conjunctivitis and keratitis), and latent viral reactivation have been reported. There have been reports of predisposition to this disease in association with specific human leukocyte antigens, suggesting an immune basis for the condition. Affected patients present with red eye, periorbital pain, floaters, and hazy, decreased vision. The hallmark finding is yellow patches in the periphery of the retina, with keratic precipitates suggestive of anterior uveitis. In 67% of cases, the condition is unilateral, and in 33% of cases, it becomes bilateral, which can happen months after involvement of one eye.ARN is diagnosed clinically, but laboratory testing can help to establish the cause. The evaluation includes viral titers for HSV, VZV, EBV, and CMV. Culturing of aqueous or vitreous specimens is useful. PCR analysis of a fluid sample is highly sensitive, specific, and rapid and requires only a small sample.The goal of medical treatment is rapid recovery and prevention of involvement of the contralateral eye. Prompt initiation of IV antiviral medication is the major therapeutic measure. Oral steroids are administered to reduce inflammation. There is no proven efficacy of antithrombotic agents. Retinal detachment is a common complication that can be prevented by prophylactic laser photocoagulation. If retinal detachment occurs, surgery such as vitrectomy or scleral buckle surgery might be needed.Currently, there is no consensus on long-term oral antiviral prophylactic therapy. Close follow-up is needed to watch for reactivation, involvement of the other eye, and retinal detachment. The disease carries a poor visual prognosis, especially in the presence of complications such as retinal detachment, anterior ischemic optic neuropathy, or central retinal artery occlusion.Although retinitis is rare in children, it can occur in various guises and have different causes. CMV retinitis is a common form of necrotizing retinitis, generally occurring in immunocompromised individuals. The course is chronic and associated with minimal vitreous inflammation. The lesions are distributed near retinal vessels. Hemorrhage is more common than in ARN. Diagnosis is essential because CMV does not respond to acyclovir.Toxoplasma chorioretinitis caused by the protozoa T gondii is characterized by a diffuse multifocal retinitis and vitreitis that has a more fulminant presentation and more than does ARN. The is less PCR analysis of a vitreous sample in caused by can present with diffuse retinitis and A history of infection should be The rapid test and the test help in disease is a inflammatory characterized by oral and inflammation. who have this condition also can have intestinal and symptoms. Retinal vasculitis, with is present. 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In of treatment, the condition carries a poor prognosis, with for involvement of the other eye, it to the of the other eye The initiation of prophylactic laser to prevent retinal detachment has improved the for this condition. 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