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A 16-year-old boy with Down syndrome was referred for evaluation of nonspecific symptoms, including difficulty in breathing on standing up from a sitting position, dizziness, frequent abdominal pain, and diarrhea after ingesting fatty foods and milk. He had intermittent asthma exacerbations for which he occasionally used a β-agonist. He had no history of trauma, surgery, or allergies.

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In addition to syringohydromelia and meningocele, the MRI of the spine showed a fluid-filled mllerian duct remnant that extended from the base of the bladder to the posterior superior aspect of the prostate gland. The margins of the fluid collection in the remnant are smoothly bound by a hypointense structure that represents a discrete tissue wall. A mllerian duct remnant can be confused with free fluid in the cul-de-sac posterior to the bladder.

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A 4-year-old boy presented for further evaluation of persistent right hip painof 2 months’ duration. Before the onset of the pain, he had been limping,favoring his right side. For several days before he was brought in forevaluation, he had had fevers and sweating in addition to the right hippain.

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This 14-year-old boy has Lesch-Nyhan syndrome. The picture shows chronic scarring of the lip--a result of self-mutilating behavior that characterizes this syndrome. Lesch-Nyhan syndrome is also characterized by dystonia, choreoathetosis, and mental retardation--all of which are associated with hyperuricemia, write Arvind Vasudevan, MD, and Atiya Khan, MD, of Morgantown, WVa. This X-linked recessive abnormality of the long arm of the X chromosome (Xq26) causes a deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) in the brain, liver, and red blood cells.1 In the United States, this condition may be as rare as 1 in 1.2 million.2 Because of the mode of transmission, this disorder affects males primarily; however, cases involving females have been reported.1 Partial variants of the syndrome involving decreased, but not entirely absent, levels of HGPRT also have been identified.2

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A previously healthy 2-year-old boy was hospitalized after 2 weeks of persistent fever (temperature to a maximum of 38.9C [102F]) and a 2-day history of neck stiffness. There was no history of cough, rhinorrhea, or dysphagia. The oropharynx could not be examined because of neck stiffness. The patient had bilateral anterior cervical lymphadenopathy.

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A 17-year-old girl being treated for mild acne, anxiety, and depression, presented with an ankle “bruise” related to an injury sustained 2 years earlier. Symptoms resolved with treatment, but the hyperpigmentation persisted.

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During spring vacation, a previously healthy 4-year-old girl visited western Nebraska, where she and her family spent time along a river bank in a wooded area. After 4 days, her mother noticed 3 engorged ticks embedded in the child's scalp. The ticks were immediately removed and burned. The child also had a marble-sized swelling on the right side of her neck. Over the next few days, the child had temperatures that spiked to 39.4C (103F), with chills, generalized malaise, and weakness. There was no history of cough, myalgias, or headache.

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A 4-week-old boy with tactile fever for the past 24 hours and fussiness of 2 weeks' duration is referred to the emergency department (ED).

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This 9-month-old infant was brought for evaluation of anteroposterior elongation of the cranium. The infant was born at term via uncomplicated vaginal delivery. His mother had noticed that his head was more elongated and narrower than his sibling's. He had achieved appropriate motor and social milestones for his age. Neither parent had a family history of abnormal head shape. The rest of the examination findings were unremarkable.

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A 6-month-old boy was hospitalized because of fever and suspected central line sepsis. He had been receiving total parenteral nutrition (TPN) since shortly after birth following a small-bowel resection, which was performed to repair a midgut volvulus. Abdominal ultrasonographic findings after the procedure were normal. The infant was born at term after an uneventful pregnancy and delivery. Alkaline phosphatase and γ-glutamyl transpeptidase levels were elevated, without hyperbilirubinemia. An ultrasonogram showed hyperhomogeneous and nonhomogeneous echogenicities of the liver, consistent with fatty changes and fibrosis.

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A 16-month-old girl was initially brought to her primary care physician because of persistent nonproductive cough of 1 to 2 weeks’ duration, with lethargy, poor feeding, and worsening cough for the past 36 hours. She had been afebrile. The patient was noted to be pale and had a decreased level of interaction. She was promptly sent to the local emergency department. Laboratory studies showed a hemoglobin level of 3.8 g/dL and hypochromic microcytic anemia. The patient was subsequently transferred to the pediatric ICU for evaluation.

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A 10-year-old boy injured his left elbow during football practice. He subsequently had pain with normal range of motion of the elbow.

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Scleroderma may present at any age and can be localized or systemic. Localized scleroderma affects the skin, subcutaneous fascia, and occasionally muscle and bone. Systemic scleroderma is characterized by chronic disease with both skin changes and visceral abnormalities. Rarely, localized scleroderma may progress to systemic disease; however, screening for this form is unnecessary in patients who have no systemic symptoms.1-5

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Match the following clinical characteristics with the photographs of Cases 1 and 2. Then read the brief descriptions that follow on pages 314 and 315 to see how well you did.

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Photoclinic: Catscratch Disease This 12-year-old girl had a persistent, nontender enlarged lymph node in the right groin. After the lymphadenopathy had failed to respond to antibiotic therapy, pathologic examination of the lymph node established the diagnosis of catscratch disease. The child remembered that she had been scratched on the right calf by a cat the month before; the scratch had already healed when the lymph node appeared. This child had no symptoms other than lymph node enlargement; however, systemic symptoms of fever, malaise, and headache may occur 2 to 3 weeks after a cat scratch. Spontaneous node regression usually occurs within 4 weeks writes Barbara Barlow, MD, of New York, NY.

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A 5-year-old girl presented with a 2-day history of a widespread pruritic rash that began while the family was on vacation. The rash appeared suddenly as small pink macules and progressed to papules and pustules. Her brother had a similar-appearing but milder rash. She denied fever, chills, or constitutional symptoms. On further questioning, her father reported that she and her brother had been in a hot tub at their vacation home.

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Twenty-two-month-old girl seen in the emergency department (ED) after several hours of abdominal pain associated with non-bloody, non-bilious emesis. Over past 2 months, has had 7 or 8 similar episodes of abdominal pain followed by emesis 1 to 2 hours later.

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The parents of this 4-month-old infant were concerned about an atrophic, 0.6-cm area on their son's parietal scalp that was surrounded by dark hair. The rest of the scalp was normal, and the child was otherwise healthy. Benjamin Barankin, MD, of Edmonton, Alberta, made the clinical diagnosis of the hair collar sign--growth of long, dark, coarse hair around a scalp lesion that may be a marker for underlying defects. The sign is sometimes found in association with aplasia cutis congenita, in which a portion of skin is absent--most commonly this manifests as a solitary round lesion on the scalp. These lesions may have healed at birth with a scar or they may remain eroded or ulcerated.

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In the aftermath of Hurricane Katrina's devastation in the Gulf Coast region, it is important for physicians in the United States to consider the infectious disease risks for children who have been displaced or who are still living in affected areas. These risks include infections acquired through ingestion of waterborne organisms; wound infections; lack of immunization continuity; and overcrowding, which increases the risk of respiratory or GI infections. In addition, problems will arise from disruption of therapy for select populations of children, such as those who are HIV-infected; those receiving immunosuppressive treatment; and those in need of continuous antibiotic prophylaxis, such as those who have sickle cell disease.

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Labor was induced at term in a 29-year-old woman who had had an uneventful pregnancy. Her baby weighed 3575 g (7 lb, 14 oz). The neonate’s left arm was internally rotated with flexion at the wrist. He had a normal grasp reflex, but Moro reflex was incomplete.

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Asthma exacerbations continue to cause a significant number of emergency care visits and hospitalizations among children.1 In “Managing Asthma in Children, Part 1” (CONSULTANT FOR PEDIATRICIANS, May 2009, page 168), we reviewed the epidemiology, risk factors, and diagnosis of asthma in children. We also discussed how to make an initial assessment of asthma severity. In Part 2, we review the key components of treatment.

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The sharply demarcated, smooth red plaques on this 3-year-old's tongue had been present for several months. The child initially refused to stick out his tongue. He cooperated after he was offered a lollipop (with the stipulation that "the wider he opened his mouth, the bigger the lollipop he would receive").

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During hospitalization of a 6-month-old boy for respiratory syncytial virus infection, spiking fevers led to a bacteremia workup.

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Ill-appearing 4-year-old girl with high-grade fever, without chills or rigors, and cough of 3 days’ duration. She also had a sore throat and was unable to move her neck because of pain. No history of rhinorrhea, difficulty in breathing, vomiting, or diarrhea. She had had tonsillitis 2 weeks earlier that was treated with a 1-week course of amoxicillin. Medical history otherwise unremarkable. Immunizations up-to-date.

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The expansion of the immunization schedule for 2009 has resulted in several success stories. Two rotavirus vaccines are now available. Following the introduction of immunization against rotavirus, a sharp decline in cases of rotavirus gastroenteritis was seen.

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The imaging studies shown are from 2 children with cancer who underwent placement of 9.6 French left subclavian central venous catheters (CVCs) to facilitate treatment. Fracture of the catheters with subsequent embolization of the distal fragment to the pulmonary arteries was noted at about 18 months after placement. Findings suggestive of impending fracture were missed in previous radiographs. In both cases, an interventional radiologist removed the fragment via percutaneous catheterization of the right femoral vein.

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This palpable, nontender, nonblanching rash had developed on the elbows of an 18-year-old boy and spread to the ankles and feet. The rash was accompanied by moderate abdominal pain associated with episodes of nonbloody emesis that did not change with eating or bowel movements. Diffuse joint pain developed the day after the rash appeared.

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A 3-month-old infant presented with a 4-week history of a symmetric skin eruption on her face, axillae, distal extremities, and external genitalia. The infant was otherwise healthy, although colicky since birth. She was exclusively breast-fed and had a good appetite. Voiding and stooling patterns were normal. Her growth was appropriate for age.