Тема: Index of Suspicion
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Старый 02.10.2005, 11:00
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Case 9 (2)

As for the cough and, now, shortness of breath, and the increasing weakness of the extremities and truncal musculature, you wonder: Is this true weakness or pain-induced? The mother reports that the patient is unable to sleep supine and has to be propped up in bed. You do not elicit any new findings on the physical exam—no joint swelling or erythema of the skin—but she is complaining of pain in all joints upon even minimal movement, to the point that it is difficult to examine passive range of motion without causing excruciating pain. She can move her legs but minimally; arm movements are limited. She expresses numbness and tingling of the hands. She now complains of intermittent swelling of the hands and feet.

The patient does not complain of dry mouth or difficulty swallowing; likewise, no dry eye or any other ocular symptoms. She does have episodes of shortness of breath and chest pain, particularly at night but also at school today. The school nurse notified the mother about this development, which was the occasion for today's visit. There is no abdominal pain or burning upon urination. No genital ulcers. Mother reports no depression, anxiety, or sleep disturbance.

As for the skin, the patient denies tightness, hair loss, or nodules. She does complain that her skin is pale, cold, and sweaty, and that her hands and feet at times become reddish or livid. Raynaud disorder comes to mind, but she has good peripheral pulses, distal extremities are pink, and skin is warm to the touch. You note two long, narrow, parallel track-like lesions along the lateral aspect of the left forearm, about one centimeter apart and reaching above the left elbow. They are barely palpable and have turned whitish.

Overall, you observe few objective findings. The lungs are clear to auscultation, and she is not in respiratory distress. Breath sounds are equal bilaterally. Heart sounds are not distant; no murmur or friction rub is noted. You have no reason to suspect pleuritis or pericarditis, which might explain the shortness of breath and chest pain. Oxygen saturation is 96% at room air; respiratory rate, 20/min.

You are puzzled—very much so. Because of her pain, you have a difficult time performing the neurologic exam, and find it impossible to assess deep-tendon reflexes. The Babinski sign is absent. Cranial nerves are grossly intact.

Confusion compounded

You order tests of anti-double stranded (DS) DNA, creatine phosphokinase (CPK), and lactate dehydrogenase (LDH); repeat urinalysis and urine culture; and a chest radiograph and electrocardiogram. The chest radiograph shows mild peribronchial thickening. The ECG is normal for age. The CPK level is normal at 55 U/L; LDH is normal at 152 U/L; and the anti-DS DNA is 227 U/mL (positive, >120 U/mL). Urine culture of a clean-catch specimen grows >100,000 gram-negative bacilli. Parvovirus B19 titers come back with no significant level of detectable IgG or IgM antibodies. You suspect SLE now, but can't confine yourself to that diagnosis because of the normal ESR and acute-phase reactant levels.

You decide to refer your patient to a rheumatologist within the larger network of a children's hospital. There, your patient spends four days as an inpatient in a general pediatric ward. Lab tests are repeated; the ANA and anti-DS DNA tests are normal. That's somewhat of a surprise: The specificity of the ANA test is low enough to be elevated even in a healthy person or by transient causes. Considering the initial titer of the anti DS-DNA and the context of the case overall, you conclude that the ANA result is most likely laboratory error.

Other lab results arrive: The ASO titer is 800 IU/mL (normal, <200 IU/mL), and the LDH is 504 U/L—both elevated for age. Urine culture grows Escherichia coli, and the patient is treated accordingly.

A purified protein derivative test is placed and recorded as 9 mm in diameter—considered positive given that, by the history, there are several possible exposures to tuberculosis, including her great-grandfather, who had been given a diagnosis of drug-resistant tuberculosis earlier in the year. But this is later judged to be a nonsignificant contact because your patient had not been in direct contact with him. A repeat chest radiograph is normal. The girl is referred to the health department of her county of residence for treatment of latent tuberculosis infection with INH prophylaxis.

The rheumatologist's general impression is that the arthralgia is likely viral or postinfectious. She cannot rule out a later-manifesting malignancy, such as leukemia.

During the hospitalization, the patient experiences significant paresthesias and pain—at times so extreme that she cannot tolerate the weight of a bedsheet. An opiate analgesic is prescribed, from which she is weaned before discharge. The judgment of the team is that, throughout her stay and in contrast to her pain, she appears comfortable and happy—raising the question of a somatization disorder. She is able to walk a few steps, with support, during hospitalization but requires a wheelchair at discharge.

Symptoms waxing and waning and still unable to walk more than a few steps, your patient shows up at your office for post-discharge follow-up. No more complaints of difficulty breathing. No pain any longer in the arms. No swelling of joints or rash noted, and no fever. She seems stable and tells you that she doesn't need the anti-inflammatory medications at the moment.

You take a deep breath yourself—a pain-free one.

"O cursed spite!"

To your surprise, the girl returns to see you only five days later, complaining that she "feels worse." Pain has intensified in her arms, hips, and back. She complains of numbness of the legs although there is no loss of bladder or bowel control. She denies headache or blurred or double vision. She cannot walk.

You perform a neurologic exam, but you cannot elicit any clear corresponding objective findings and are at a loss to explain the waxing and waning of symptoms. You begin to think of possible psychosomatic or psychiatric disorders: Neurasthenia? Fibromyalgia? Psychogenic pain as a part of a conversion reaction? You cannot identify stressors in the history other than her parents' separation nine months ago; when questioned, mother and patient deny, for a second time, any domestic violence or significant psychogenic trauma. Could this be a case of atypical Guillain-Barr? syndrome, with paresthesias and hyperesthesias predominant, or a course of the syndrome with a pseudomyopathic picture, with waxing and waning symptoms in this chronic inflammatory neuropathic disorder?

That's not your gut feeling so far into the case, however; something among the pieces just does not fit. You call a colleague who is a neurologist and request consultation. He reviews the case and is most inclined to entertain Guillain-Barr? syndrome rather than vasculitis—especially in light of progressive ascending paresthesias and neuropathic pain. Upon examination, lower-extremity strength is 3/4 of 5. Deep-tendon reflexes are absent and toes are down-going. His plan is to obtain a magnetic resonance imaging scan of the brain and complete spine. He'll also perform electromyography (EMG) and nerve conduction-velocity studies. He decides to start the patient on gabapentin (Neurontin).

Needle EMG cannot be performed because the patient cannot tolerate the test. Nerve conduction-velocity studies are normal, as are all neuroimaging findings. Lumbar puncture is deferred.

The neurologist prescribes water physiotherapy twice a week, which, over the next two weeks, seems to improve the patient's mobility and relieve her pain. She still requires the use of a wheelchair but can move her legs somewhat, and can readily use her arms to push herself around.

Meanwhile, repeat tests of inflammatory markers all return normal. As for cytomegalovirus and Epstein-Barr virus titers, IgG antibodies are detected in low titers for both viruses and IgM antibodies are absent—a combination that makes recent infection unlikely. CMV and EBV titers are not retested.

Can it get worse?

Approximately eight weeks after the onset of her illness, your patient returns to see you. She complains of feeling poorly again. The pain in her arms, legs, and back is worse. She cannot move her right arm and must eat and write with her left hand. She again has experienced difficulty breathing at night. She had been to the neurologist two days earlier for follow-up; he prescribed a course of high-dose steroids for possible vasculitis. However, you recommend to the mother to hold off steroids because there is insufficient diagnostic evidence for vasculitis. Your rheumatology colleague at the children's hospital network agrees with your action. You express suspicion that the team could be dealing with a conversion reaction because no consistent evidence of physical illness has manifested during eight weeks of follow-up. You agree to admit the patient to the hospital again but under the rheumatology service, with neurology and psychiatry services in consultation.

Faced with a two-week wait for inpatient placement for the girl, you conclude that skin biopsy from the chronic rash might be helpful to rule in or out possible vasculitic changes. The biopsy is interpreted as chronic folliculitis with negative immunofluorescence.

You approach the mother about the possibility that her daughter's symptoms are psychological. She finds that difficult to accept, however, and prefers a somatic explanation for her daughter's illness.
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