Clinical/Pathologic Conference 15-Month-Old Infant With Failure to Thrive, Hepatomegaly, Increased Liver Enzymes, Hypoproteinemia, and Seizures

Department of Pediatric Pathology, All Children’s Hospital, St. Petersburg, FloridaCASE PRESENTATIONHerbert H. Pomerance, M.D., andRobert F. Patterson, M.D.The patient was a white female who at age 15 monthswasadmittedtothehospitalbecauseoffailuretothrive,recent onset of focal motor seizures, and occasionalvomiting. She had been born to a G1P0 mother after anapparently normal pregnancy. She was breast fed for 3months, when breast feeding was stopped, apparentlybecause of the patient’s ‘‘crankiness and irritability.’’Shewaspoorlyreceptiveofformulafeedingsthereafter,and exhibited poor weight gain. Her diet consistedprimarily of potato chips and pickles. Prior to this ad-mission, she had had occasional ear and throat infec-tions. A number of outpatient tests were carried out,including examination for ovaandparasites, whichwasreported as negative. An immunoglobulin screen wasobtained and showed normal results. A blood count andurinalysis were normal. Antimicrosomal antibodieswere not found. The sweat chloride result was 10. Itwasnotedthattheseizureshadstarted1weekfollowingimmunization with MMR.Physical examination. The body habitus of thechild was described as petite to frail, and the hair wassparse. Weight and height were below the 5th centile.The liver was palpable one finger-breadth below theright costal margin. The spleen tip was palpable. Therewere no other positive findings.The laboratory findings on admission are shown inTable I. Later findings are included in Tables I–V.Includedinthisworkupwasaurineorganicacidprofile,which revealed increased hydroxyphenyllactate andno other abnormalities. Amino acid blood and urinescreens were negative. Direct bilirubin was 0.6 mg%.Calcium levels were consistently low to boderline, withvarious measurements from 6.7–7.3 mg%. A lympho-cyteprofileshowednormalnumbers,withtheexceptionof a value of 224 for CD8 cells. A later antigen andmitogen profile revealed decreased but measurablelevels.About 3 weeks after admission, increased seizureactivity and increasing respiratory difficulties werenoted. Bronchial lavage showed some growth of Can-dida. A tracheal aspirate on day 10 revealed Strepto-coccus pneumoniae in large numbers, and this wastreated. Her course continued downhill and she diedapproximately 1 month after admission.CLINICAL DISCUSSIONLewis A. Barness, M.D.TheimportantfeaturesofthiscasearesummarizedinTable VI. An infant may voluntarily select a dieteliminating a food to which he or she is intolerant. Suchself-selection has been recognized against food aller-gies, milk, gluten, galactose, lactose, fruit, and variousproteins.