TAR SYNDROME - DIAGNOSTIC AND TREATMENT CASE REPORT
(Abstract release date: 05/19/16)
EHA Library. Grajqevci-Uka V. 06/09/16; 134656; PB1756
Dr. Violeta Grajqevci-Uka
Contributions
Contributions
Abstract
Abstract: PB1756
Type: Publication Only
Background
Thrombocytopenia absent radius syndrome (TAR) is a rare genetic disorder that is apparent at birth. TAR syndrome is inherited as an autosomal recessive trait. This disorder is characterized by low levels of platelets in blood (thrombocytopenia) resulting in potentially severe bleeding episodes primarily during infancy.
Aims
Presentation of the case with (TAR) syndrome which was admitted to Hematology Oncology Unit at Pediatric Clinic with petechia and hematomas skin.changes,
Methods
A 2.5 month old male child, was admitted in our unit with petechial and hematoma’s skin changes and epistaxis. Diagnosis of the patient was made with help of the clinical examinations, laboratory findings, radiological images and genetic reaserch..
Results
At the radiological imaging examination of the upper limbs, radius was absent in both shoulders.. Complete blood count: hemoglobin, 11 g/dL; mean corpuscular volume, 95 fl; mean corpuscular hemoglobin, 34 pg; reticulocytic count, platelet count, 20,000/uL; prothrombin time, 12.8 seconds; partial thromboplastin time, 28.0 seconds. Liver function tests had the following results: bilirubin (total), 6.20mg/dL; (direct), 0.25 mg/dL; glutamic pyruvic transaminase, 35 U/L; and glutamic oxaloacetic transaminase, 34 U/L. Electrolytes and kidney function were: Na, 146 mmol/L; K, 3.8 mmol/L; serum creatinine, 0.9 mg/dL. TORCH screens were normal Radiography of the forearm showed bilateral absence of radii. Abdominal and cranial ultrasonography were normal. The genetic analysis was positive.
Conclusion
TAR syndrome is a rare genetic disorder characterized by low platelet level and radial aplasia. The tranfusions with platelet concentrate is needed when patient is presented with low platelets count.Key words: TAR syndrome, agenesis radii, treatment.
Session topic: E-poster
Type: Publication Only
Background
Thrombocytopenia absent radius syndrome (TAR) is a rare genetic disorder that is apparent at birth. TAR syndrome is inherited as an autosomal recessive trait. This disorder is characterized by low levels of platelets in blood (thrombocytopenia) resulting in potentially severe bleeding episodes primarily during infancy.
Aims
Presentation of the case with (TAR) syndrome which was admitted to Hematology Oncology Unit at Pediatric Clinic with petechia and hematomas skin.changes,
Methods
A 2.5 month old male child, was admitted in our unit with petechial and hematoma’s skin changes and epistaxis. Diagnosis of the patient was made with help of the clinical examinations, laboratory findings, radiological images and genetic reaserch..
Results
At the radiological imaging examination of the upper limbs, radius was absent in both shoulders.. Complete blood count: hemoglobin, 11 g/dL; mean corpuscular volume, 95 fl; mean corpuscular hemoglobin, 34 pg; reticulocytic count, platelet count, 20,000/uL; prothrombin time, 12.8 seconds; partial thromboplastin time, 28.0 seconds. Liver function tests had the following results: bilirubin (total), 6.20mg/dL; (direct), 0.25 mg/dL; glutamic pyruvic transaminase, 35 U/L; and glutamic oxaloacetic transaminase, 34 U/L. Electrolytes and kidney function were: Na, 146 mmol/L; K, 3.8 mmol/L; serum creatinine, 0.9 mg/dL. TORCH screens were normal Radiography of the forearm showed bilateral absence of radii. Abdominal and cranial ultrasonography were normal. The genetic analysis was positive.
Conclusion
TAR syndrome is a rare genetic disorder characterized by low platelet level and radial aplasia. The tranfusions with platelet concentrate is needed when patient is presented with low platelets count.Key words: TAR syndrome, agenesis radii, treatment.
Session topic: E-poster
Abstract: PB1756
Type: Publication Only
Background
Thrombocytopenia absent radius syndrome (TAR) is a rare genetic disorder that is apparent at birth. TAR syndrome is inherited as an autosomal recessive trait. This disorder is characterized by low levels of platelets in blood (thrombocytopenia) resulting in potentially severe bleeding episodes primarily during infancy.
Aims
Presentation of the case with (TAR) syndrome which was admitted to Hematology Oncology Unit at Pediatric Clinic with petechia and hematomas skin.changes,
Methods
A 2.5 month old male child, was admitted in our unit with petechial and hematoma’s skin changes and epistaxis. Diagnosis of the patient was made with help of the clinical examinations, laboratory findings, radiological images and genetic reaserch..
Results
At the radiological imaging examination of the upper limbs, radius was absent in both shoulders.. Complete blood count: hemoglobin, 11 g/dL; mean corpuscular volume, 95 fl; mean corpuscular hemoglobin, 34 pg; reticulocytic count, platelet count, 20,000/uL; prothrombin time, 12.8 seconds; partial thromboplastin time, 28.0 seconds. Liver function tests had the following results: bilirubin (total), 6.20mg/dL; (direct), 0.25 mg/dL; glutamic pyruvic transaminase, 35 U/L; and glutamic oxaloacetic transaminase, 34 U/L. Electrolytes and kidney function were: Na, 146 mmol/L; K, 3.8 mmol/L; serum creatinine, 0.9 mg/dL. TORCH screens were normal Radiography of the forearm showed bilateral absence of radii. Abdominal and cranial ultrasonography were normal. The genetic analysis was positive.
Conclusion
TAR syndrome is a rare genetic disorder characterized by low platelet level and radial aplasia. The tranfusions with platelet concentrate is needed when patient is presented with low platelets count.Key words: TAR syndrome, agenesis radii, treatment.
Session topic: E-poster
Type: Publication Only
Background
Thrombocytopenia absent radius syndrome (TAR) is a rare genetic disorder that is apparent at birth. TAR syndrome is inherited as an autosomal recessive trait. This disorder is characterized by low levels of platelets in blood (thrombocytopenia) resulting in potentially severe bleeding episodes primarily during infancy.
Aims
Presentation of the case with (TAR) syndrome which was admitted to Hematology Oncology Unit at Pediatric Clinic with petechia and hematomas skin.changes,
Methods
A 2.5 month old male child, was admitted in our unit with petechial and hematoma’s skin changes and epistaxis. Diagnosis of the patient was made with help of the clinical examinations, laboratory findings, radiological images and genetic reaserch..
Results
At the radiological imaging examination of the upper limbs, radius was absent in both shoulders.. Complete blood count: hemoglobin, 11 g/dL; mean corpuscular volume, 95 fl; mean corpuscular hemoglobin, 34 pg; reticulocytic count, platelet count, 20,000/uL; prothrombin time, 12.8 seconds; partial thromboplastin time, 28.0 seconds. Liver function tests had the following results: bilirubin (total), 6.20mg/dL; (direct), 0.25 mg/dL; glutamic pyruvic transaminase, 35 U/L; and glutamic oxaloacetic transaminase, 34 U/L. Electrolytes and kidney function were: Na, 146 mmol/L; K, 3.8 mmol/L; serum creatinine, 0.9 mg/dL. TORCH screens were normal Radiography of the forearm showed bilateral absence of radii. Abdominal and cranial ultrasonography were normal. The genetic analysis was positive.
Conclusion
TAR syndrome is a rare genetic disorder characterized by low platelet level and radial aplasia. The tranfusions with platelet concentrate is needed when patient is presented with low platelets count.Key words: TAR syndrome, agenesis radii, treatment.
Session topic: E-poster
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