Importance of screening the peripheral smear.
A 5-year-old boy presented with history of failure to thrive from infancy. There was a history of one sibling death due to similar problems and history of severe abortions in the mother. Routine examination of peripheral smear revealed more than 50% acanthocytes. Based on this tests were streamlined to doing lipid profile and Lipo protein electrophoresis which revealed hypolipidemia and absent beta hypo protein band. Jejunal mucosal biopsy confirmed the diagnosis of A Beta Lipo proteinemia which revealed lipid laden enterocytes. This case illustrates the importance of simple tests like peripheral smear examination in streamlining further tests in the diagnosis of major diseases.
Rajajee
Sarala
S
Department of Pediatric Medicine, Kanchi Kamakoti Childs Trust Hospital, Chennai, India. saralarajajee@yahoo.com
Sathyasekaran
Malathi
M
Shankar
Janani
J
Dhathathri
Latha
L
Anandnathan
D000012:Abetalipoproteinemia / Q000097:blood* / Q000175:diagnosis*; D001055:Apolipoproteins B / Q000032:analysis*; D002675:Child, Preschool; D003581:Cytodiagnosis; D006403:Hematologic Tests / Q000379:methods*; D006801:Humans; D007194:India; D007413:Intestinal Mucosa / Q000166:cytology / Q000473:pathology; D007583:Jejunum / Q000473:pathology; D008297:Male; D012680:Sensitivity and Specificity
D001055:Apolipoproteins B