RT Journal Article SR Electronic T1 Rickets and dysmorphic findings in a child with abetalipoproteinemia JF Saudi Medical Journal JO Saudi Med J FD Prince Sultan Military Medical City SP 1169 OP 1171 VO 31 IS 10 A1 Mohammed Y. Hasosah A1 Shada J. Shesha A1 Ghassan A. Sukkar A1 Wafaa Y. Bassuni YR 2010 UL http://smj.org.sa/content/31/10/1169.abstract AB Abetalipoproteinemia (ABL) is characterized by acanthocytosis, hypocholesterolemia, and steatorrhea. Here, we describe a case of ABL associated with rickets and dysmorphic findings and the subsequent therapeutic course in an 18-month-old male referred for evaluation for failure to thrive and chronic fatty diarrhea. Examination revealed a pale child, dysmorphic face, and signs of rickets. Laboratory examination revealed low hemoglobin (3.7 gm/dl), low albumin (28 gm/L), low cholesterol and triglyceride levels. The blood smear showed acanthocytes while the small bowel histology showed the enterocytes were distended with lipid droplets. He was diagnosed with ABL and treated with fat-soluble vitamins (ADEK), and hydrolyzed protein formula containing medium chain triglycerides. Three months later, his fatty diarrhea becomes normal stool, his serum fat-soluble vitamins normalized, and his weight increased from 4.1 kg to 5.9 kg.