Rickets and dysmorphic findings in a child with abetalipoproteinemia.
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.
Department of Pediatric Gastroenterology, King Abdul-Aziz Medical City, National Guard Hospital, PO Box 8202, Jeddah 21482, Kingdom of Saudi Arabia. myhasosah@yahoo.com
Mohammed Y
MY
Hasosah
Shada J
SJ
Shesha
Ghassan A
GA
Sukkar
Wafaa Y
WY
Bassuni
D000012:Abetalipoproteinemia / Q000150:complications* / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D012279:Rickets / Q000150:complications* / Q000473:pathology