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Diagnostic dilemma.

A 17-year-old white girl presents with the complaint of swelling in her feet that progressed to her legs in 2 days. She has not had her period for 5 months. You give her diuretics and put her on a progesterone challenge. When she comes back 2 weeks later, the edema is lessened, but she still is amenorrheic. In addition, she notes that her stools are light in color while her urine is dark orange. When you examine her, you note scleral icterus.

The girl reports that she has been tired for the past 3-4 months and has experienced night sweats for the past 2-3 weeks. Her mother reports that for the past few months the girl's disposition has changed, becoming "catty."

How would you approach this case?

A 17-year-old white girl presents with edema, amenorrhea, night sweats, and fatigue. Her mother says the girl's personality has changed for the worse lately. The girl does not respond to a progesterone challenge, although the edema lessens with a diuretic. Her eyes show scleral icterus, her urine is dark orange, and her stools are light in color. (See page 2 for a more comprehensive history.)

SHORT DIFFERENTIAL DIAGNOSIS

* Viral hepatitis.

* Acetaminophen toxicity.

* Autoimmune hepatitis.

* Wilson's disease.

* Budd-Chiari syndrome.

* Alpha-1 antitrypsin deficiency.

WORK-UP: Liver function test results were abnormal. Her aspartate aminotransferase (AST) was 143 U/L (normal range 0-31), and alanine aminotransferase (ALT) was 71 U/L (normal range 0-31).

In addition, her clotting was abnormal. Prothrombin time was 16.8 seconds (normal range 10.4-12.9), international normalized ratio (INR) was 1.5 (normal range 0.9-1.1), and partial thromboplastin time (PTT) was 36.5 seconds (normal range 24.4-34.0). The girl's ammonia level was 36 [micro]mol/L (normal range 0-32).

Abdominal ultrasound showed a portal vein thrombosis in an otherwise small, echogenic liver. Other signs are consistent with cirrhosis, including the presence of ascites. Her spleen is enlarged (21 cm), and there is reversed flow in the splenic vein.

Viral hepatitis is the most common cause of liver failure in this age group. However, tests for hepatitis A, B, and C were negative, as were tests for cytomegalovirus, Epstein-Barr virus, Bartonella bacteria, and toxoplasmosis. A screen for autoimmune diseases was negative.

The hallmark of Wilson's disease is Kayser-Fleischer rings. However, none were visible on examination of her eyes.

A liver biopsy showed her copper level was 1,616 [micro]g/dL (normal range 10-35) and her portal pressure was elevated, at 22 mm Hg.

FINAL DIAGNOSIS: Wilson's disease. Kayser-Fleischer rings, which are present in 100% of patients with neurologic symptoms of copper deposition, are found in only half of patients with just liver involvement.

TREATMENT: The girl was placed on a low-copper diet and given antioxidant supplements. She began a course of copper chelation with D-penicillamine, and she awaits liver transplantation. Other members of her family were screened for Wilson's disease because it is an autosomal recessive defect in ATP-dependent copper transporter. There are at least 170 identified mutations of the defect, which occurs on chromosome 13.

Case presented by Dr. Jennifer L. Sheehe, a member of the senior pediatric house staff at Johns Hopkins University, at a meeting on pediatric trends sponsored by the university.

To comment on this case or offer an unusual case for publication, write to PEDIATRIC NEWS, 12230 Wilkins Ave., Rockville, MD 20852; fax 301-816-8738; or e-mail pdnews@elsevier.com
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Author:Sheehe, Jennifer L.
Publication:Pediatric News
Geographic Code:1USA
Date:Mar 1, 2004
Words:567
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