Index of Suspicion

You are evaluating an 8-year-old boy who has had constant burning suprapubic abdominal pain for the past 4 weeks. At first, the pain was exacerbated by ambulation. Recently, it has awakened him from sleep. He has had anorexia and lethargy, but no fevers or weight loss. He has experienced persistent dysuria and recently has had right flank pain, nocturia,and frequency. His bowel habits are normal.Physical examination reveals a well-looking boy who has abdominal tenderness limited to the suprapubic area. There is tenderness on percussion over the right costovertebral angle. There are no peritoneal signs. The remainder of the examination yields normal findings.Urinalysis reveals normal results except for 1 to 4 erythrocytes per high-power field. Electron microscopy of the urine shows no abnormalities, and viral and bacterial cultures are negative. Abdominal radiographic findings are consistent with mild constipation. There is minimal stool output and no change in symptomatology following two enemas. Stool culture and ova and parasite examination results are negative. The erythrocyte sedimentation rate is 3 mm/h. An imaging study reveals the diagnosis.A 3-month-old boy is brought to your office with a 2-day history of“red, runny eyes.” There has been no fever, vomiting, diarrhea, decreased appetite, history of similar episodes,or contact with ill people. The baby”s mother had a rapid plasma reagin titer of 1:128 and was treated initially with erythromycin because of penicillin allergy. After desensitization,she received penicillin at 7 months’gestation. Her drug screen was positive for cocaine and marijuana. There is a family history of blindness in two maternal uncles.On physical examination, there is bilateral erythema and mild edema of the eyelids. The conjunctivae are red, and a clear, watery discharge is present. It is difficult to elicit red retinal reflexes. A grade 2/6 systolic ejection-type heart murmur is audible. The remainder of the examination yields normal findings.Conjunctivitis is diagnosed and the baby is given 10% sulfacetamide ophthalmic drops. After treatment,his condition does not improve. An ophthalmologist examines the child and finds bilateral leukocoria. The eyes feel soft to retropulsion,although intraocular pressure is not measured formally. The corneas appear clear and the conjunctivae white. The anterior chambers are shallow bilaterally. The pupils are irregular and mid-dilated. B-scan ultrasonography reveals retrolenticular opacities bilaterally and a funnel-shaped retinal detachment in the left eye.A 9-month-old girl presents with a primary complaint of vomiting. She has been healthy except for several bouts of otitis media. On examination, otitis media is diagnosed, and she is prescribed a 10-day course of antibiotic therapy. Her vomiting continues, becoming protracted and severe. Dehydration ensues, and she is admitted to the hospital for fluid resuscitation following a diagnosis of gastroenteritis. On the third hospital day, she is noted to have“strabismus,” characterized by the inability to move her right eye laterally beyond the midline. The vomiting improves, and the patient is discharged,with instructions to see an ophthalmologist.One day after discharge, she returns because her parents have noticed a bulging fontanelle. Her head circumference has increased over the past month from the 90th to the 95th percentile. Physical examination reveals a consolable infant who has a head circumference of 47.5 cm. Significant findings include a tense, bulging anterior fontanelle,papilledema, and bilateral sixth cranial nerve palsies. There are no meningeal signs. The remainder of the general medical and neurologic examination is normal. A diagnostic study reveals the diagnosis.Ultrasonography of the patient's abdomen and pelvis demonstrated a focal thickening at the dome of the bladder wall that was interpreted as an inflamed urachal remnant, focal cystitis, or a tumor. Cystoscopy revealed an inflamed urachal cyst. The patient was treated with cephalexin with no improvement. Follow-up ultrasonography revealed that the cyst had increased in size, and the patient underwent a laparoscopy and excision of the cyst. Subsequent visits have revealed complete resolution of his symptoms.A general approach to evaluating hematuria is to determine if red blood cells (RBCs) are present by microscopy. Sometimes, the finding of“blood” on a chemical dipstick test or an abnormal color really is due to pigmenturia, which includes myoglobinuria and hemoglobinuria and can be caused by certain foods and drugs. If no RBCs are present on microscopic examination,pigmenturia should be suspected; however, if a urine sample containing RBCs has been sitting at room temperature for a while, the erythrocytes can lyse,leading to negative microscopic findings.The next step is to determine if there are RBC casts. Their presence points to a glomerular origin and includes entities such as immunoglobulin A (IgA) nephropathy, acute poststreptococcal glomerulonephritis, Henoch-Schönlein purpura,Alport syndrome, hemolytic-uremic syndrome, thin basement membrane disease, and Wegener granulomatosis. If no RBC casts are seen,non-glomerular etiologies should be considered, which include infection(urinary tract infection, hemorrhagic cystitis, vaginitis, prostatitis, infected urachal cyst), structural lesions(chronic urinary tract obstruction,nephrolithiasis, tumor, congenital renal malformation, vascular problems), and trauma (injury, foreign body, extremely vigorous exercise,child abuse).The urachus is a fibrous cord located in the extraperitoneal tissues of the anterior abdominal wall. It arises from the dome of the bladder and extends to the umbilicus. The urachus is patent in embryonic life as the allantois, but it usually constricts by 32 weeks' gestational age. In the adult, it is called the median umbilical ligament.Incomplete regression of the tract results in one of four distinct anomalies: a patent urachus, with free communication between the umbilicus and bladder due to nonocclusion of the urachal lumen; a urachal sinus,in which the lumen communicates only with the umbilicus; a urachal diverticulum, in which the lumen communicates only with the bladder;and a urachal cyst that involves persistence of a portion of the urachal canal containing desquamated epithelial cells.Although a patent urachus is observed in 0.1% of adult autopsy specimens, it accounts for only 3 of 200,000 general hospital admissions. Presenting signs include urine exiting from the umbilicus, umbilical discharge, and an abnormal umbilicus on physical examination. Imaging with contrast is the study of choice for establishing the diagnosis and differentiating a patent urachus from an omphalomesenteric duct,which is a duct that maintains its attachment to the bowel. The differential diagnosis of patent urachus also includes urachal sinus. There is debate as to whether a patent urachus results from infravesical urinary tract obstruction. Until further data are available, it seems prudent for all patients to undergo cystoscopy prior to definitive surgery.A urachal sinus may be caused by drainage of an infected urachal cyst. Other conditions that can mimic the signs of a symptomatic urachal sinus include umbilical granuloma, omphalomesenteric remnants,and omphalitis. Symptoms and signs may include generalized pain, fever,periumbilical pain and redness, and drainage. Imaging with contrast appears to be the diagnostic study of choice. A urachal diverticulum usually is an incidental finding of no clinical significance.A pediatric autopsy study has found urachal cysts present in 1 in 5,000 births. The male-to-female ratio is 2:1. Urachal cysts generally remain small and silent unless infection or malignant degeneration occurs. Only one third of cysts are discovered in infancy or childhood.The cyst wall has an innermost epithelial lining with some secretory activity. The epithelium usually degenerates when the cyst becomes infected. Malignant urachal transformation with development of mucinous adenocarcinoma has a reported incidence of 1 in 5 million. The 5-year survival rate of patients who have this cancer is only approximately 10%.Infection of a urachal cyst is caused by bacterial migration from either the urinary tract or the umbilicus. The most common etiologic organism is Staphylococcus aureus. The infected cyst can manifest as a tender lower midline abdominal mass with overlying erythema, acute intra-abdominal or pelvic disease, or urinary tract infection. The cyst may drain spontaneously through the umbilicus, simulating omphalitis, a patent omphalomesenteric duct, or an umbilical granuloma. If drainage into the bladder occurs, urinary symptoms predominate.If no drainage occurs, fever, flank pain, suprapubic pain and tenderness, or irritative voiding symptoms,including hematuria, develop. Peritonitis can result from an infected cyst rupturing into the peritoneal cavity, causing fever, malaise, and leukocytosis. The differential diagnosis of this condition includes acute appendicitis, Meckel diverticulum leading to peritoneal irritation from a perforated viscus, severe cystitis,pelvic inflammatory disease, and inflammatory bowel disease. Unfortunately, infected urachal cysts often are misdiagnosed as an acute abdominal inflammatory process, resulting in emergency exploratory laparotomy. Only infrequently is an infected urachal cyst diagnosed preoperatively. Computed tomography and ultrasonography are the most sensitive imaging modalities,demonstrating a cavity of variable size that involves the dome of the bladder.Treatment of infected urachal cysts includes administration of systemic antibiotics followed by either primary excision or initial incision and drainage of the abscess cavity with later excision of the remnant. If not excised, there is a 30% rate of reinfection. Primary excision is performed when the extent of infection is limited. (Stephen B. Freedman, MDCM,The Hospital for Sick Children,Toronto, Canada)Norrie disease was diagnosed, based on the family history and ophthalmologic findings. This disease is a syndrome of bilateral retinal malformation that leads to blindness and is associated with mental retardation and sensorineural deafness. Mental retardation occurs in 33% to 66% of cases and generally appears after age 3 years. Deafness occurs in 20% to 25% of cases and has been reported as early as 4 months of age. Norrie disease is a rare X-linked recessive disease associated with chromosome Xp11.3. Its prevalence is reported to be 0.001%.The pathogenesis of the disease is believed to be due to a biochemical defect that disrupts the neuroectoderm in an early stage of development. The result is a malformation of the organs derived from the neuroectoderm, including the retina,central nervous system, and parts of the inner ear. Management of this disease requires a supportive,multidisciplinary approach among specialists in pediatrics, ophthalmology, and audiology. Hearing aids may provide some benefit. Ophthalmic surgery may prevent phthisis bulbi (atrophy of the eyeball), but does not improve vision. Genetic counseling is recommended for families who have a child with this disorder.The differential diagnosis of leukocoria in an infant includes congenital cataracts, persistent hyperplastic primary vitreous, retinopathy of prematurity, and retinoblastoma. Other very rare causes of a white ocular light reflex are ocular toxocariasis and Coats disease, a unilateral exudative retinal detachment associated with incompetent blood vessels.Congenital cataracts most commonly are inherited in an autosomal dominant form, although inheritance also may be autosomal recessive, X-linked, or sporadic. Congenital cataracts are associated with intrauterine infections by the TORCH organisms (Toxoplasma,rubella, cytomegalovirus, herpes simplex); several syndromes, including Down syndrome; and enzyme defects such as galactosemia. Congenital cataracts require immediate evaluation by an ophthalmologist. Both bilateral and unilateral cataracts must be removed surgically early in the child’s life for best visual results. Newborns should be screened for cataracts by examination for the red reflex.Persistent hyperplastic primary vitreous is caused by the persistence of various portions of the fetal hyaloid vascular system and associated fibrovascular tissue. This condition is characterized clinically by a unilateral leukocoria in a microphthalmic eye of a term infant. Rarely, the microphthalmia may be bilateral. The course of the disease usually is progressive and has a poor outcome. Surgical treatment involves aspirating the lens and excising the abnormal tissue.The exact cause of retinopathy of prematurity (ROP) is unknown,although oxygen is believed to play a significant role in the development of severe ROP. It has been suggested that increased oxygen causes vasoconstriction, which leads to ischemia of the peripheral avascular retina. Hypoxia stimulates local vasoproliferative factors and neovascularization. The new retinal vessels are abnormal and leak proteinaceous material, which results in scarring,retinal retraction, and eventually,retinal detachment. Birthweight is the most important risk factor for the development of ROP. Infants who have birthweights less than 1,250 g have a 25% chance of developing some degree of ROP and a 1% chance of having decreased vision or blindness. Infants whose birthweights are less than 1,000 g have a 50% chance of developing ROP and a 5% chance of decreased vision or blindness. All infants who have birthweights of 1,500 g or less must have a funduscopic examination with dilatation and scleral depression within 1 month of birth. Management of ROP includes cryotherapy and laser therapy.Retinoblastoma is the most common intraocular tumor of childhood. It occurs bilaterally in 30% of cases and is believed to be inherited in an autosomal dominant fashion. Retinoblastoma is associated with a deletion or mutation of band q14 on chromosome 13. The tumor can spread to the brain through the optic nerve or into the bone marrow. Therefore, cerebrospinal fluid and bone marrow should be examined for malignant cells when retinoblastoma is suspected. Patients who have this tumor are at increased risk for osteosarcoma. Treatment of retinoblastoma includes chemotherapy,radiation, and nucleation. Early detection affords the best chance for a favorable outcome.Whenever a child comes into the office with signs of eye disease, such as erythematous conjunctivae and a watery discharge, clinicians should not assume it is a simple disorder, such as conjunctivitis, but consider other reasons for the ocular findings. Important findings can be obtained from a funduscopic examination to check for the red reflex, cloudiness of the cornea, pupillary reaction, and blood in the anterior chamber. Conjunctivitis is not a condition ordinarily associated with Norrie disease,but in this case, persistent conjunctivitis led to a more detailed examination of the eyes that, in turn,uncovered the presence of the more serious condition. If the red reflex is absent or otherwise abnormal, it is important to consider the conditions that can alter that finding. In Norrie disease, the red reflex may be present initially, causing the diagnosis to be missed. Also, often there is blood under the retinal detachment in affected patients, leading to a pupillary reflex that is abnormal but not pale or white. It is good practice for clinicians to check the red reflexes at all health supervision visits and often during visits for illness. (Vani V. Veeramachaneni, MD, Mathew Walker Comprehensive Health Center, Phyliss N. Fielder, MD, Meharry Medical College, Nashville, TN)Neuroimaging in this child yielded normal findings. Lumbar puncture demonstrated an opening pressure of 45 cm H2O. This constellation of symptoms and signs is consistent with the diagnosis of pseudotumor cerebri, a phenomenon representing increased intracranial fluid pressure without signs of hydrocephalus on neuroimaging. Flow throughout the ventricular system is unimpeded, but resorption at the arachnoid villus is impaired, leading to increased pressure throughout the spinal fluid compartment. Although the disorder is recognized commonly in adults, it is unusual in childhood and occurs rarely in infancy.Pseudotumor cerebri has been associated with a wide variety of etiologies in children, including obesity,medications (oral contraceptives,tetracycline, vitamin supplements,corticosteroids), and endocrinopathies(hypothyroidism). Lyme disease and lupus erythematosus are known precipitants of pseudotumor. Otitis media has long been associated with pseudotumor cerebri and is known as“otitic” or otogenic intracranial hypertension. This condition may be associated with lateral sinus thrombosis.Headache is common in older children who have pseudotumor cerebri,but in younger children and infants,symptoms can be nonspecific and often are attributed to other illnesses. Irritability, poor feeding, and vomiting are common initial symptoms. Headache occurs in the majority of pediatric patients and may manifest as fussiness, crying, or head banging. Later signs include bulging fontanelle, papilledema, and sixth cranial nerve palsy.Symptoms suggesting an intracranial mass or obstructive hydrocephalus should prompt a neuroimaging study prior to performing lumbar puncture. Demonstration of an intracranial mass or obstructive hydrocephalus is a relative contraindication to lumbar puncture, at least until neurosurgical consultation is obtained. either of lumbar puncture is because in spinal fluid pressure to an obstructive has been associated with syndromes, which the for or serious neurologic If neuroimaging results are opening pressure can be Lumbar puncture with often requires local and to prevent during may lower the this should be less with may in of to A of cerebrospinal fluid than is for can be resolution of symptoms. should be removed to the pressure to to H2O. generally are normal. sinus can be by may to within the lateral evaluation for the of pseudotumor should include complete blood and Lyme most significant of in intracranial pressure is optic nerve may to visual or blindness. may symptoms in as as 25% of patients after lumbar puncture. the infant who has pseudotumor presents a because of the of pressure without the of definitive and the in visual In is initially of a and include administration of and and The of choice appears to be optic nerve is associated with a rate of and constellation of increased head bilateral sixth nerve and bulging is of increased intracranial pressure from Other in this patient include obstructive hydrocephalus due to tumor, or infection, the most in this age without antibiotic commonly presents with including meningeal and in with increased intracranial treatment of may some of a very degree of clinical and a for performing lumbar puncture, the for the This child’s signs of increased intracranial in the of treatment for otitis should have been to treated at the of her until diagnostic her course was of hydrocephalus from tumor and in this Symptoms of increased intracranial pressure in infants may not be in the presence of a tumor in the This phenomenon may be due to of the for of the cranial The sixth nerve is a common of increased intracranial as is of vomiting, bulging fontanelle, and sixth nerve in a child treated with antibiotics should prompt an evaluation for bacterial should be prior to performing lumbar puncture because of the risk of with obstructive hydrocephalus and increased intracranial pseudotumor cerebri is a rare disorder of to increased intracranial pressure and the signs and symptoms of obstructive It is a diagnosis of after more serious are Its is optic nerve leading to blindness. The of findings and the in pressure and eye without the of pseudotumor in The of and ophthalmologist is to that this does not MD, MD, Medical Center,

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