abetalipoproteinemia: importance of the peripheral blood smear

Pediatr Blood Cancer 2005;45:237 MATTERS OF MORPHOLOGY Abetalipoproteinemia: Importance of the Peripheral Blood Smear F. Demirciog ˘lu, MD, 1 H. O ¨ ren, MD, 2 *S ¸. Yılmaz, MD, 2 N. Arslan, MD, 3 O ¨ . Gu ¨rcu ¨, MD, 1 and G. I : rken, MD 2 A 21-month-old girl was referred to our hospital with the chief complaints of abdominal distention, diarrhea, weakness, and pallor in August 2004. Her mother and father were relatives. Her mother had the diagnosis of beta thalassemia trait. Her sister who had similar symptoms in infancy, died because of an unknown disease with progressive neurologic symptoms. On physical examination, the patient weight and height were under the 3rd centile. She had fatigue and pallor. Laboratory evaluations demonstrated a Hb level of 10.1 g/dl, hematocrit 29.3%, WBC 10 10 9 /L, platelets 453 10 9 /L, MCV 65.4 fl, MCH 22.4 pg, MCHC 34.3 g/dl, RDW 22.4, RBC 4.48 10 12 /L, and reticulocyte 1.5%. Hypochromia, microcytosis, anisocytosis, poikilocytosis, target cells, and diffuse acanthocytosis (which led us to diagnosis) were seen in peripheral blood smear (Fig. 1). Hemoglobin electrophoresis demonstrated beta thalassemia trait. Results of other laboratory tests were as follows: PT 16.8 sec, APTT 32 sec, aspartate aminotransferase 59 U/L, alanine aminotransferase 42 U/L, fibrinogen 2.84 g/l, total cholesterol 28 mg/dl, triglyceride 7 mg/dl, HDL cholesterol 27 mg/dl, LDL cholesterol 2 mg/dl, apo A-1 50,01 mg/dl, and apo B <9.98 mg/dl. The clinical and laboratory findings demonstrated that the patient had abetalipoproteinemia. Acanthocytosis and anemia may be the first signs of this disorder [1]. Decrease in the cholesterol levels in the erythrocyte membrane causes resulting in the formation of acanthocytes [2]. Peripheral blood smear of a patient may play an important role in the diagnosis. REFERENCES 1. Rajajee S, Sathyasekaran M, Shankar J, et al. Importance of screening the peripheral smear. Ind J Pediatr 2002;69:821–822. 2. Stevenson VL, Hardie RJ. Acanthocytosis and neurological disorders. J Neurol 2001;248:87 – 94. ß 2005 Wiley-Liss, Inc. DOI 10.1002/pbc.20360 Fig. 1. Acanthocytosis in peripheral blood smear of the patient. —————— 1 Department of Pediatrics, Dokuz Eylu ¨l University Faculty of Medicine, I ˙ zmir, Turkey 2 Department of Pediatric Hematology, Dokuz Eylu ¨l University Faculty of Medicine, I ˙ zmir, Turkey 3 Department of Pediatric Gastroenterology and Metabolism, Dokuz Eylu ¨l University Faculty of Medicine, I ˙ zmir, Turkey —————— F. Demirciog ˘lu and O ¨ . Gu ¨rcu ¨ are the Research Assistant in Pediatrics; H. O ¨ ren and G. I ˙ rken, Professor of Pediatrics, Pediatric Hematologist; S ¸. Yılmaz, Assistant Professor of Pediatrics and Fellow in Pediatric Hematology; and N. Arslan, Assistant Professor of Pediatrics. *Correspondence to: Prof., Dr. H. O ¨ ren, Department of Pediatric Hematology, Dokuz Eylu ¨l University Faculty of Medicine, 35340 Balc ¸ova, I ˙ zmir, Turkey. E-mail: [email protected] Received 28 December 2004; Accepted 29 December 2004

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Page 1: Abetalipoproteinemia: Importance of the peripheral blood smear

Pediatr Blood Cancer 2005;45:237

MATTERS OF MORPHOLOGYAbetalipoproteinemia:

Importance of the Peripheral Blood Smear

F. Demircioglu, MD,1 H. Oren, MD,2* S. Yılmaz, MD,2 N. Arslan, MD,3

O. Gurcu, MD,1 and G. I:rken, MD

A 21-month-old girl was referred to our hospital withthe chief complaints of abdominal distention, diarrhea,weakness, and pallor in August 2004. Her mother andfather were relatives. Her mother had the diagnosis ofbeta thalassemia trait. Her sister who had similarsymptoms in infancy, died because of an unknown diseasewith progressive neurologic symptoms. On physicalexamination, the patient weight and height were underthe 3rd centile. She had fatigue and pallor. Laboratoryevaluations demonstrated a Hb level of 10.1 g/dl,hematocrit 29.3%, WBC 10� 109/L, platelets 453�109/L, MCV 65.4 fl, MCH 22.4 pg, MCHC 34.3 g/dl,RDW 22.4, RBC 4.48� 1012/L, and reticulocyte 1.5%.Hypochromia, microcytosis, anisocytosis, poikilocytosis,target cells, and diffuse acanthocytosis (which led us todiagnosis) were seen in peripheral blood smear (Fig. 1).Hemoglobin electrophoresis demonstrated beta thalasse-mia trait. Results of other laboratory tests were as follows:PT 16.8 sec, APTT 32 sec, aspartate aminotransferase 59U/L, alanine aminotransferase 42U/L, fibrinogen 2.84 g/l,total cholesterol 28 mg/dl, triglyceride 7 mg/dl, HDLcholesterol 27 mg/dl, LDL cholesterol 2 mg/dl, apo A-150,01 mg/dl, and apo B <9.98 mg/dl. The clinical andlaboratory findings demonstrated that the patient hadabetalipoproteinemia. Acanthocytosis and anemia may bethe first signs of this disorder [1]. Decrease in thecholesterol levels in the erythrocyte membrane causesresulting in the formation of acanthocytes [2]. Peripheral

blood smear of a patient may play an important role in thediagnosis.

REFERENCES

1. Rajajee S, Sathyasekaran M, Shankar J, et al. Importance of

screening the peripheral smear. Ind J Pediatr 2002;69:821–822.

2. Stevenson VL, Hardie RJ. Acanthocytosis and neurological

disorders. J Neurol 2001;248:87–94.

� 2005 Wiley-Liss, Inc.DOI 10.1002/pbc.20360

Fig. 1. Acanthocytosis in peripheral blood smear of the patient.

——————1Department of Pediatrics, Dokuz Eylul University Faculty of

Medicine, Izmir, Turkey

2Department of Pediatric Hematology, Dokuz Eylul University Faculty

of Medicine, Izmir, Turkey