Worsening Diarrhea in a 5Year Old Girl

Masako Udewa and Alan T. Remaley

A 5-year-old girl was brought to her physician for worsening of diarrhea. She was having about six to seven bowel movements of foul-smelling stools per day. The diarrhea seemed to worsen with ingestion of fatty food. The mother described that since infancy, her daughter had failure to thrive, chronic diarrhea, and malabsorption. She was tentatively diagnosed with celiac disease at 18 months of age without a biopsy. A gluten-free diet was started but did not appear to relieve her diarrhea. There was no family history of celiac disease.

On physical examination, she was noted to be below the fifth percentile for height and weight. The abdomen was mildly distended with the liver edge palpable approximately 2 cm below the right costal margin. The spleen could not be palpated. The deep tendon reflexes were slightly diminished, but present. Her gait was wide-based.

Laboratory tests included a comprehensive serum chemistry panel and complete blood count. All results were within normal limits except AST and ALT, which were mildly elevated. The blood smear showed a moderate amount of acanthocytes. An ultrasound of the abdomen showed hepatomegaly, with increased echogenicity consistent with fatty infiltration.

The patient returned for another visit a month later. On further questioning, the mother revealed that her daughter seemed to be less coordinated than her 4-year-old cousin. She also noted that her daughter had difficulties with fine-motor skills. No bleeding problem or easy bruising was reported. The following additional laboratory blood tests were performed:

Analyte

Cholesterol, total HDL-C Triglycerides ApoA-1

Value, Conventional Units

Reference Interval, Conventional Units

108-187 35-82 32-116 104-167

Value, SI Units

Reference Interval, SI Units

Value, Conventional Units

Reference Interval, Conventional

Value, SI Units

Reference Interval, SI Units

Analyte

ApoB LDL-C Vitamin A Vitamin E Prothrombine time

Units

15 s

Lipoprotein analysis showed that total cholesterol, triglyceride, and low-density lipoprotein (LDL) were all extremely low. Prothrombin time (PT) was slightly elevated. Vitamin K and vitamin D levels were normal; however, vitamins A and E were all abnormally low. Both of her parents' lipoprotein profiles were normal. Stool fat excretion was measured to be significantly elevated at 15 g/day (reference range <7 g/day). Tests for antigliadin, antireticulin, and antiendomysial antibodies were all negative.

Inconsistent with celiac disease, the duodenum was found by endoscopy to have normally formed villi, but it had an unusual white frosting appearance. On histologic examination, numerous Oil Red stain-positive vacuoles were observed in the villi consistent with the intracellular fat accumulation that occurs in abetalipoproteinemia. Because of the suspected diagnosis, the patient was referred to an ophthalmologist, who also observed pigmentary degeneration of the retina. The patient was started on a low-fat diet, which considerably improved her diarrhea. High-dose oral supplementation of vitamins A and E was also started. She was recommended to return for periodic monitoring of her eyes, to be followed by coagulation and liver function tests.

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