CEREBRAL STROKE IN A CHILD WITH CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II
(Abstract release date: 05/19/16)
EHA Library. Unal E. 06/09/16; 135107; PB2207
Dr. Ekrem Unal
Contributions
Contributions
Abstract
Abstract: PB2207
Type: Publication Only
Background
Congenital Dyserythropoietic Anemia type II (CDA II) belongs to a subtype of bone marrow failure syndromes characterized by monolineage involvement and typical morphological abnormalities in erythroid precursor cells resulting with different degree of hyporegenerative anemia. Moreover reticulocytosis, which is not corresponding to the degree of anemia (ineffective erythropoiesis) with jaundice and splenomegaly are major diagnostic criteria. Causative gene is located at SEC23B. Although stroke among children is rare, it can cause significant morbidity and mortality
Aims
Herein we present three years old boy who had diagnosed with CDA II and eventually experienced stoke
Methods
A newborn male baby referred to us with complaints of icterus and anemia. From his medical history it was learned that his parents were consanguineous. Initial physical examination showed pallor, icterus, hepatosplenomegaly and cryptorchidism. Laboratory finding showed anemia, reticulocytosis, hyperbilurinemia. Bone marrow aspiration showed morphological abnormalities of the erythroblasts. The genetic studies showed double heterozygous mutations in SEC23B.Regular transfusions were started.At age of four he admitted to emergency department with complaints of aphasia and physical examination showed facial paralysis. The MRI revealed acute infarcts at left frontal lobe and digital subtraction angiograph showed occlusion of left internal carotid artery suggestive of fibromusculer dysplasia. Enoxiparine was started. And he is under outpatient control without any neurological sequel.
Results
Pediatric stroke is an important cause of long-term disability, In our recent manuscript we observed seizures in 53%, long-term significant neurological deficits in 67%, and death in 14%. Risk factors for stroke in childhood are different from those traditionally observed in adults. Over 100 risk factors for stroke in children have been reported, but in up to one third of patients, no cause is identified, and these cases are classified as idiopathic. In literature search we did not encounter any individual with CDA II who had stroke.
Conclusion
To best of our knowledge this case presentation reports an interesting combination of CDA and stroke. This combination can be coincidental but clinicians who manage patients with CDA must be vigilant about the neurological complications including stroke.
Session topic: E-poster
Keyword(s): Anemia, Stroke
Type: Publication Only
Background
Congenital Dyserythropoietic Anemia type II (CDA II) belongs to a subtype of bone marrow failure syndromes characterized by monolineage involvement and typical morphological abnormalities in erythroid precursor cells resulting with different degree of hyporegenerative anemia. Moreover reticulocytosis, which is not corresponding to the degree of anemia (ineffective erythropoiesis) with jaundice and splenomegaly are major diagnostic criteria. Causative gene is located at SEC23B. Although stroke among children is rare, it can cause significant morbidity and mortality
Aims
Herein we present three years old boy who had diagnosed with CDA II and eventually experienced stoke
Methods
A newborn male baby referred to us with complaints of icterus and anemia. From his medical history it was learned that his parents were consanguineous. Initial physical examination showed pallor, icterus, hepatosplenomegaly and cryptorchidism. Laboratory finding showed anemia, reticulocytosis, hyperbilurinemia. Bone marrow aspiration showed morphological abnormalities of the erythroblasts. The genetic studies showed double heterozygous mutations in SEC23B.Regular transfusions were started.At age of four he admitted to emergency department with complaints of aphasia and physical examination showed facial paralysis. The MRI revealed acute infarcts at left frontal lobe and digital subtraction angiograph showed occlusion of left internal carotid artery suggestive of fibromusculer dysplasia. Enoxiparine was started. And he is under outpatient control without any neurological sequel.
Results
Pediatric stroke is an important cause of long-term disability, In our recent manuscript we observed seizures in 53%, long-term significant neurological deficits in 67%, and death in 14%. Risk factors for stroke in childhood are different from those traditionally observed in adults. Over 100 risk factors for stroke in children have been reported, but in up to one third of patients, no cause is identified, and these cases are classified as idiopathic. In literature search we did not encounter any individual with CDA II who had stroke.
Conclusion
To best of our knowledge this case presentation reports an interesting combination of CDA and stroke. This combination can be coincidental but clinicians who manage patients with CDA must be vigilant about the neurological complications including stroke.
Session topic: E-poster
Keyword(s): Anemia, Stroke
Abstract: PB2207
Type: Publication Only
Background
Congenital Dyserythropoietic Anemia type II (CDA II) belongs to a subtype of bone marrow failure syndromes characterized by monolineage involvement and typical morphological abnormalities in erythroid precursor cells resulting with different degree of hyporegenerative anemia. Moreover reticulocytosis, which is not corresponding to the degree of anemia (ineffective erythropoiesis) with jaundice and splenomegaly are major diagnostic criteria. Causative gene is located at SEC23B. Although stroke among children is rare, it can cause significant morbidity and mortality
Aims
Herein we present three years old boy who had diagnosed with CDA II and eventually experienced stoke
Methods
A newborn male baby referred to us with complaints of icterus and anemia. From his medical history it was learned that his parents were consanguineous. Initial physical examination showed pallor, icterus, hepatosplenomegaly and cryptorchidism. Laboratory finding showed anemia, reticulocytosis, hyperbilurinemia. Bone marrow aspiration showed morphological abnormalities of the erythroblasts. The genetic studies showed double heterozygous mutations in SEC23B.Regular transfusions were started.At age of four he admitted to emergency department with complaints of aphasia and physical examination showed facial paralysis. The MRI revealed acute infarcts at left frontal lobe and digital subtraction angiograph showed occlusion of left internal carotid artery suggestive of fibromusculer dysplasia. Enoxiparine was started. And he is under outpatient control without any neurological sequel.
Results
Pediatric stroke is an important cause of long-term disability, In our recent manuscript we observed seizures in 53%, long-term significant neurological deficits in 67%, and death in 14%. Risk factors for stroke in childhood are different from those traditionally observed in adults. Over 100 risk factors for stroke in children have been reported, but in up to one third of patients, no cause is identified, and these cases are classified as idiopathic. In literature search we did not encounter any individual with CDA II who had stroke.
Conclusion
To best of our knowledge this case presentation reports an interesting combination of CDA and stroke. This combination can be coincidental but clinicians who manage patients with CDA must be vigilant about the neurological complications including stroke.
Session topic: E-poster
Keyword(s): Anemia, Stroke
Type: Publication Only
Background
Congenital Dyserythropoietic Anemia type II (CDA II) belongs to a subtype of bone marrow failure syndromes characterized by monolineage involvement and typical morphological abnormalities in erythroid precursor cells resulting with different degree of hyporegenerative anemia. Moreover reticulocytosis, which is not corresponding to the degree of anemia (ineffective erythropoiesis) with jaundice and splenomegaly are major diagnostic criteria. Causative gene is located at SEC23B. Although stroke among children is rare, it can cause significant morbidity and mortality
Aims
Herein we present three years old boy who had diagnosed with CDA II and eventually experienced stoke
Methods
A newborn male baby referred to us with complaints of icterus and anemia. From his medical history it was learned that his parents were consanguineous. Initial physical examination showed pallor, icterus, hepatosplenomegaly and cryptorchidism. Laboratory finding showed anemia, reticulocytosis, hyperbilurinemia. Bone marrow aspiration showed morphological abnormalities of the erythroblasts. The genetic studies showed double heterozygous mutations in SEC23B.Regular transfusions were started.At age of four he admitted to emergency department with complaints of aphasia and physical examination showed facial paralysis. The MRI revealed acute infarcts at left frontal lobe and digital subtraction angiograph showed occlusion of left internal carotid artery suggestive of fibromusculer dysplasia. Enoxiparine was started. And he is under outpatient control without any neurological sequel.
Results
Pediatric stroke is an important cause of long-term disability, In our recent manuscript we observed seizures in 53%, long-term significant neurological deficits in 67%, and death in 14%. Risk factors for stroke in childhood are different from those traditionally observed in adults. Over 100 risk factors for stroke in children have been reported, but in up to one third of patients, no cause is identified, and these cases are classified as idiopathic. In literature search we did not encounter any individual with CDA II who had stroke.
Conclusion
To best of our knowledge this case presentation reports an interesting combination of CDA and stroke. This combination can be coincidental but clinicians who manage patients with CDA must be vigilant about the neurological complications including stroke.
Session topic: E-poster
Keyword(s): Anemia, Stroke
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