Özet Amaç: Glanzmann trombastenisi nadir görülen, trombosit çökmesindeki bozuklukla seyreden otoz... more Özet Amaç: Glanzmann trombastenisi nadir görülen, trombosit çökmesindeki bozuklukla seyreden otozomal çekinik geçişli bir hastalıktır. Bu çalışmada Cerrahpaşa Tıp Fakültesi Çocuk Hematoloji Bölümünde izlenen Glanzmann trombastenili hastalarda tanı ve tedavi ...
Xanthogranulomatous pyelonephritis (XGPN) is a very rare, unusual variant of pyelonephritis chara... more Xanthogranulomatous pyelonephritis (XGPN) is a very rare, unusual variant of pyelonephritis characterized by destruction of renal parenchyma. It usually occurs in adults with a history of recurrent urinary tract infections. The condition is rare in children and the disease can imitate renal tumors. Here, we describe a 12-year-old boy who presented with abdominal pain. He did not have any history of urinary tract infection. Computed tomography and magnetic resonance imaging showed a cystic lesion in the left upper kidney. The patient underwent radical nephrectomy with a provisional diagnosis of Wilms tumor however histopathological examination of specimen revealed XGPN. Xanthogranulomatous pyelonephritis should be kept in mind in the differential diagnosis of renal lesions in childhood, during surgery if any suspicion from the diagnosis, a frozen biopsy should have been taken.
Case Our patient who was born in another center with a birth weight of 3920 g as from the first p... more Case Our patient who was born in another center with a birth weight of 3920 g as from the first pregnancy and as the first living child of a 38-year-old mother and a 42-year old father who had no consanguinity. No problem occured during the prenatal follow-up. The APGAR scores for the first and 5th minutes postnatally were assessed to be 9/10. No pathological finding was observed on physical examination. There was no ABO or Rh incompatibility between the mother and the baby. No additional test was performed in the patient who had a normal birth weight and gestational week. The newborn was compliant with the mother and his nutrition was adequate. After a 24-hour follow-up period the patient was discharged following heel blood sampling for metabolic screening tests. Three days after discharge the patient was brought to our emergency outpatient clinic on the fourth postnatal day with complaints of decreased feeding, malaise and skin eruption which occured in the last one day. The newborn reflexes were decreased at presentation. The axillary temperature was found to be 38.2 0 C, the upper extremity arterial blood pressure was found to be 80/40 mm Hg and the pulse rate was found to be 162/min. Examination of the respiratory system was found to be normal. There was no pathological finding on examination of the cardiovascular system except for tachycardia. Widespread petechiae and ecchymoses which were prominent on the anterior part of the trunk, marked subcutaneous nodules on the back and hepatosplenomagaly (the liver was palpable 5 cm below the costal margin in the midclavicular line and the spleen was palpable 4 cm below the costal margin in the midclavicular line) were found on physical examination. Complete blood count, biochemical tests and coagulation tests were performed. No pathology was found in the biochemical and coagulation tests. Complete blood count was as follows: WBC: 51 600/mm 3 Hb: 12.5 g/dL, Hct: % 37 Plt: 16 000/mm 3. LDH was found to be 1313 IU/L. Picture 1. Appearance of the subcutaneous nodules of the patient
Re cei ved/Ge liş ta ri hi: 28.03.2017 Ac cep ted/Ka bul ta ri hi: 02.06.2017 ABS TRACT Öz Aim: E... more Re cei ved/Ge liş ta ri hi: 28.03.2017 Ac cep ted/Ka bul ta ri hi: 02.06.2017 ABS TRACT Öz Aim: Endocrinopathies are common in patients with thalassemia major (TM) and affect their life quality. Our aim was to identify the frequency of growth retardation and endocrine complications in these patients. Materials and Methods: Sixty-two patients aged 3-18 years with TM were evaluated retrospectively for height, weight, body mass index (BMI), and pubertal stage. Blood tests for endocrine function, and oral glucose tolerance test (OGTT) results were recorded. Results: The mean age of 62 subjects (33 females/29 males) was 10.4±3.9 years. The frequency of ≤-2 standard deviation scores was 37.1% for height, 33.9% for weight and 11.3% for BMI. Short stature, being underweight, and low BMI were significantly more prevalent in children over 7 years old (p<0.001). Delayed puberty/hypogonadism was present in 37% of 19 adolescents. Thirteen percent of the subjects had vitamin D deficiency (<10 ng/mL), hyperparathyroidism was observed in 29% of the subjects, while subclinical hypothyroidism (thyroid-stimulating hormone 5-10 IU/mL) was determined in 3 (5.5%) of the 55 subjects. In OGTT, impaired fasting glucose was seen in 7 subjects (14.5%), impaired glucose tolerance in 3 (6.3%), diabetes mellitus in 1 (2.1%), and hypoglycemia at 120-min was observed in 5 subjects (10.4%). Overall, 67.7% of the 62 subjects had height standard deviation score ≤-2 and/or at least one endocrinopathy. Conclusion: Growth retardation and endocrine problems are still a serious problem in TM patients, and develop particularly in those older than 7 years. Additionally, attention must be paid to hypoglycemia in these patients as well as diabetes.
A new family with hereditary hyperferritinemia cataract syndrome: Hereditary hyperferritinemia ca... more A new family with hereditary hyperferritinemia cataract syndrome: Hereditary hyperferritinemia cataract syndrome (HHCS) is a rare disorder with an autosomal dominant trait. The disease is defined with early onset cataract and hyperferritinemia without iron overload. Here, we report a new family with three affected members of this syndrome where the proband presented with high ferritin levels. Patients with unexplained high ferritin levels and/or juvenile onset cataract must be evaluated carefully for hereditary hyperferritinemia cataract syndrome.
Vitamin B12 (B12) deficiency is associated with growth retardation, reduced serum osteocalcin lev... more Vitamin B12 (B12) deficiency is associated with growth retardation, reduced serum osteocalcin levels, lower bone mineral density, and increased bone fracture risk, yet the underlying mechanisms remain unclear. However, a recent study showed that B12 positively regulates postweaning growth and bone formation via taurine. B12 deficiency causes growth hormone resistance (GH) and IGF1 (Insulin-like growth factor-1) deficiency. In the present study, we aimed to evaluate the effect of B12 deficiency on the axis of GH-IGF1 and serum taurine level. Eighteen children with B12 deficiency (B12 düzeyi <180 pg/ml) who were 2-17 years-old and referred to Pediatric Haematology Unit in Diyarbakir, between June-August 2015, were included. These subjects had also no growth retardation or any chronic disease. Serum growth hormone, IGF1, IGFBP3 (IGF binding protein-3) and taurine levels were measured before and after oral B12 treatment during 1 month (<20 kg 500 mcg/day, >20 kg 1000 mcg/day). The mean age of the 18 subjects (6F/12M) was 8.0±4.8 years-old. The levels of serum B12, growth hormone, IGF1, IGFBP3 and taurine before and after oral B12 treatment were 132.6±28.4 pg/ml vs 655.8±384.4 pg/ml, 1.20±1.98 vs 1.35±1.20 ng/ml, 213.9±185.8 vs 217.8±181.5 ng/ml, 3683.5±1497 vs 3583.5±1207.3ng/ml, 32.7±18.0 vs 41.1±30.4 μmol/L (N:10-170) (p<0.0001,p=0.41,0.37,0.28 ve 0.31, respectively). The present study did not detect any relation between B12 deficiency and the GH-IGF1 axis. However, there is a need for the studies that are performed in children with more severe and long-term B12 deficiency.
Purpose: With regular blood transfusions and modern medical management strategies, transfusion-de... more Purpose: With regular blood transfusions and modern medical management strategies, transfusion-dependent thalassemia (TDT) patients are currently living into adulthood, but they still suffer from the chronicity of the disease and its complications. This study was aimed to assess the health-related quality of life (HRQoL) scores in pediatric TDT patients compared with healthy controls. Patients and Methods: The PedsQL 4.0 Generic Core Scales were administered to 80 pediatric TDT patients (aged 5 to 18 y, child self-report) and their parents (parent-proxy report), as well as age-matched and sex-matched healthy controls (80 participants and their parents). Results: Patients with TDT and their parents rated lower HRQoL scores in all domains (physical, emotional, social, and school functioning) compared with the healthy population (P < 0.01). The univariate analysis indicated that the total HRQoL score for children's self-reports was negatively predicted by high ferritin levels and the presence of any complication. The only negative predictor of the total HRQoL score in multivariate analyses was a high ferritin level (> 1800 ng/dL). Conclusions: This study showed that thalassemia has a negative impact on HRQoL when compared with a healthy population. For a better quality of life, intensive treatment should be applied for complications and high ferritin levels.
We aimed to retrospectively evaluate histopathological, demographic and clinical findings of chil... more We aimed to retrospectively evaluate histopathological, demographic and clinical findings of children with mastocytosis diagnosed with mastocytosis in our clinic. The files of 21 patients diagnosed with mastocytosis between 2000 and 2014 in our clinic were retrospectively analyzed. All patients had cutaneous mastocytosis, 19 patients had urticaria pigmentosa and 2 patients had mastocytoma. The male-female ratio was: 1/1.6. The median age for onset of disease was 12.1 months and the disease occured in the newborn period in 3 patients. While all patients had eruption, 10 patients had pruritis, 1 patient had a bullous formation, 1 patient had abdominal pain and 1 patient had attacks of redness throughout the body and a sense of burning in the chest. Two patients had a positive familial history. The diagnosis was confirmed with skin biopsy in all patients. The median follow up time of the patients were 5 years. The patients were treated with H1, H2 antihistaminics, local moisturizing cr...
We present a case of hepatic mucormycosis in a 9-year-old boy with acute lymphoblastic leukaemia.... more We present a case of hepatic mucormycosis in a 9-year-old boy with acute lymphoblastic leukaemia. Despite long-term use of combined liposomal amphotericin B and posaconazole therapy, the lesion persisted and could only be treated by surgical excision. After surgery, antifungal treatment was continued with posaconazole. On follow-up, the patient had two episodes of ascending cholangitis which were responsive to intravenous antibiotics. He is doing well at the moment in remission for 2.5 years. Mucormycosis was long regarded as a fatal infection with poor prognosis. With early medical and surgical management, survival rates increase. Isolated hepatic mucormycosis is rare and only seven cases were reported in the literature up to now. We wanted to emphasise the role of early surgery in patients with hepatic mucormycosis in view of the literature.
Renal cell carcinoma is a tumor that is well known for a high rate of metastasis to several locat... more Renal cell carcinoma is a tumor that is well known for a high rate of metastasis to several locations like the lung, liver and bones. Skeletal muscle is a rare location for dissemination of the disease. Herein, we describe a 7-year-old boy who presented with flank pain. On physical examination, an abdominal mass located on the left kidney as well as a solid palpable lesion on the left upper arm were detected. Total nephrectomy with subsequent excision of the arm mass was performed. Pathology examination revealed presence of translocation renal cell carcinoma. The patient received α-interferon followed by multikinase inhibitor (Sorafenib) treatment but was lost due to progressive disease. This is the first description of a pediatric patient with skeletal muscle metastases of translocation renal cell carcinoma in the literature.
The NOTCH signaling pathway plays important role in the development of multicellular organisms, a... more The NOTCH signaling pathway plays important role in the development of multicellular organisms, as it regulates cell proliferation, survival, and differentiation. In adults, it is essential for the T- or B-lymphocyte lineage commitment. NOTCH1 and FBXW7 mutations both lead the activation of the NOTCH1 pathway and are found in the majority of T-ALL patients. In this study, the mutation analysis of NOTCH1 and FBXW7 genes was performed in 87 pediatric T-ALLs who were treated on the ALL-BFM protocols. In 19 patients (22%), activating NOTCH1 mutations were observed either in the heterodimerization domain or in the PEST domain and 7 cases (10%) demonstrated FBXW7 mutations (2 cases had both NOTCH1 and FBXW7 mutations). We also analyzed the relationship of the mutation data between the clinical and biological data of the patients. NOTCH1 and FBXW7, NOTCH1 alone were found correlated with lower initial leucocyte counts which was independent from the sex and T- cell immunophenotype. However, NOTCH1 and FBXW7 mutations were not predictive of outcome in the overall cohort of pediatric T-ALLs.
Özet Amaç: Glanzmann trombastenisi nadir görülen, trombosit çökmesindeki bozuklukla seyreden otoz... more Özet Amaç: Glanzmann trombastenisi nadir görülen, trombosit çökmesindeki bozuklukla seyreden otozomal çekinik geçişli bir hastalıktır. Bu çalışmada Cerrahpaşa Tıp Fakültesi Çocuk Hematoloji Bölümünde izlenen Glanzmann trombastenili hastalarda tanı ve tedavi ...
Xanthogranulomatous pyelonephritis (XGPN) is a very rare, unusual variant of pyelonephritis chara... more Xanthogranulomatous pyelonephritis (XGPN) is a very rare, unusual variant of pyelonephritis characterized by destruction of renal parenchyma. It usually occurs in adults with a history of recurrent urinary tract infections. The condition is rare in children and the disease can imitate renal tumors. Here, we describe a 12-year-old boy who presented with abdominal pain. He did not have any history of urinary tract infection. Computed tomography and magnetic resonance imaging showed a cystic lesion in the left upper kidney. The patient underwent radical nephrectomy with a provisional diagnosis of Wilms tumor however histopathological examination of specimen revealed XGPN. Xanthogranulomatous pyelonephritis should be kept in mind in the differential diagnosis of renal lesions in childhood, during surgery if any suspicion from the diagnosis, a frozen biopsy should have been taken.
Case Our patient who was born in another center with a birth weight of 3920 g as from the first p... more Case Our patient who was born in another center with a birth weight of 3920 g as from the first pregnancy and as the first living child of a 38-year-old mother and a 42-year old father who had no consanguinity. No problem occured during the prenatal follow-up. The APGAR scores for the first and 5th minutes postnatally were assessed to be 9/10. No pathological finding was observed on physical examination. There was no ABO or Rh incompatibility between the mother and the baby. No additional test was performed in the patient who had a normal birth weight and gestational week. The newborn was compliant with the mother and his nutrition was adequate. After a 24-hour follow-up period the patient was discharged following heel blood sampling for metabolic screening tests. Three days after discharge the patient was brought to our emergency outpatient clinic on the fourth postnatal day with complaints of decreased feeding, malaise and skin eruption which occured in the last one day. The newborn reflexes were decreased at presentation. The axillary temperature was found to be 38.2 0 C, the upper extremity arterial blood pressure was found to be 80/40 mm Hg and the pulse rate was found to be 162/min. Examination of the respiratory system was found to be normal. There was no pathological finding on examination of the cardiovascular system except for tachycardia. Widespread petechiae and ecchymoses which were prominent on the anterior part of the trunk, marked subcutaneous nodules on the back and hepatosplenomagaly (the liver was palpable 5 cm below the costal margin in the midclavicular line and the spleen was palpable 4 cm below the costal margin in the midclavicular line) were found on physical examination. Complete blood count, biochemical tests and coagulation tests were performed. No pathology was found in the biochemical and coagulation tests. Complete blood count was as follows: WBC: 51 600/mm 3 Hb: 12.5 g/dL, Hct: % 37 Plt: 16 000/mm 3. LDH was found to be 1313 IU/L. Picture 1. Appearance of the subcutaneous nodules of the patient
Re cei ved/Ge liş ta ri hi: 28.03.2017 Ac cep ted/Ka bul ta ri hi: 02.06.2017 ABS TRACT Öz Aim: E... more Re cei ved/Ge liş ta ri hi: 28.03.2017 Ac cep ted/Ka bul ta ri hi: 02.06.2017 ABS TRACT Öz Aim: Endocrinopathies are common in patients with thalassemia major (TM) and affect their life quality. Our aim was to identify the frequency of growth retardation and endocrine complications in these patients. Materials and Methods: Sixty-two patients aged 3-18 years with TM were evaluated retrospectively for height, weight, body mass index (BMI), and pubertal stage. Blood tests for endocrine function, and oral glucose tolerance test (OGTT) results were recorded. Results: The mean age of 62 subjects (33 females/29 males) was 10.4±3.9 years. The frequency of ≤-2 standard deviation scores was 37.1% for height, 33.9% for weight and 11.3% for BMI. Short stature, being underweight, and low BMI were significantly more prevalent in children over 7 years old (p<0.001). Delayed puberty/hypogonadism was present in 37% of 19 adolescents. Thirteen percent of the subjects had vitamin D deficiency (<10 ng/mL), hyperparathyroidism was observed in 29% of the subjects, while subclinical hypothyroidism (thyroid-stimulating hormone 5-10 IU/mL) was determined in 3 (5.5%) of the 55 subjects. In OGTT, impaired fasting glucose was seen in 7 subjects (14.5%), impaired glucose tolerance in 3 (6.3%), diabetes mellitus in 1 (2.1%), and hypoglycemia at 120-min was observed in 5 subjects (10.4%). Overall, 67.7% of the 62 subjects had height standard deviation score ≤-2 and/or at least one endocrinopathy. Conclusion: Growth retardation and endocrine problems are still a serious problem in TM patients, and develop particularly in those older than 7 years. Additionally, attention must be paid to hypoglycemia in these patients as well as diabetes.
A new family with hereditary hyperferritinemia cataract syndrome: Hereditary hyperferritinemia ca... more A new family with hereditary hyperferritinemia cataract syndrome: Hereditary hyperferritinemia cataract syndrome (HHCS) is a rare disorder with an autosomal dominant trait. The disease is defined with early onset cataract and hyperferritinemia without iron overload. Here, we report a new family with three affected members of this syndrome where the proband presented with high ferritin levels. Patients with unexplained high ferritin levels and/or juvenile onset cataract must be evaluated carefully for hereditary hyperferritinemia cataract syndrome.
Vitamin B12 (B12) deficiency is associated with growth retardation, reduced serum osteocalcin lev... more Vitamin B12 (B12) deficiency is associated with growth retardation, reduced serum osteocalcin levels, lower bone mineral density, and increased bone fracture risk, yet the underlying mechanisms remain unclear. However, a recent study showed that B12 positively regulates postweaning growth and bone formation via taurine. B12 deficiency causes growth hormone resistance (GH) and IGF1 (Insulin-like growth factor-1) deficiency. In the present study, we aimed to evaluate the effect of B12 deficiency on the axis of GH-IGF1 and serum taurine level. Eighteen children with B12 deficiency (B12 düzeyi <180 pg/ml) who were 2-17 years-old and referred to Pediatric Haematology Unit in Diyarbakir, between June-August 2015, were included. These subjects had also no growth retardation or any chronic disease. Serum growth hormone, IGF1, IGFBP3 (IGF binding protein-3) and taurine levels were measured before and after oral B12 treatment during 1 month (<20 kg 500 mcg/day, >20 kg 1000 mcg/day). The mean age of the 18 subjects (6F/12M) was 8.0±4.8 years-old. The levels of serum B12, growth hormone, IGF1, IGFBP3 and taurine before and after oral B12 treatment were 132.6±28.4 pg/ml vs 655.8±384.4 pg/ml, 1.20±1.98 vs 1.35±1.20 ng/ml, 213.9±185.8 vs 217.8±181.5 ng/ml, 3683.5±1497 vs 3583.5±1207.3ng/ml, 32.7±18.0 vs 41.1±30.4 μmol/L (N:10-170) (p<0.0001,p=0.41,0.37,0.28 ve 0.31, respectively). The present study did not detect any relation between B12 deficiency and the GH-IGF1 axis. However, there is a need for the studies that are performed in children with more severe and long-term B12 deficiency.
Purpose: With regular blood transfusions and modern medical management strategies, transfusion-de... more Purpose: With regular blood transfusions and modern medical management strategies, transfusion-dependent thalassemia (TDT) patients are currently living into adulthood, but they still suffer from the chronicity of the disease and its complications. This study was aimed to assess the health-related quality of life (HRQoL) scores in pediatric TDT patients compared with healthy controls. Patients and Methods: The PedsQL 4.0 Generic Core Scales were administered to 80 pediatric TDT patients (aged 5 to 18 y, child self-report) and their parents (parent-proxy report), as well as age-matched and sex-matched healthy controls (80 participants and their parents). Results: Patients with TDT and their parents rated lower HRQoL scores in all domains (physical, emotional, social, and school functioning) compared with the healthy population (P < 0.01). The univariate analysis indicated that the total HRQoL score for children's self-reports was negatively predicted by high ferritin levels and the presence of any complication. The only negative predictor of the total HRQoL score in multivariate analyses was a high ferritin level (> 1800 ng/dL). Conclusions: This study showed that thalassemia has a negative impact on HRQoL when compared with a healthy population. For a better quality of life, intensive treatment should be applied for complications and high ferritin levels.
We aimed to retrospectively evaluate histopathological, demographic and clinical findings of chil... more We aimed to retrospectively evaluate histopathological, demographic and clinical findings of children with mastocytosis diagnosed with mastocytosis in our clinic. The files of 21 patients diagnosed with mastocytosis between 2000 and 2014 in our clinic were retrospectively analyzed. All patients had cutaneous mastocytosis, 19 patients had urticaria pigmentosa and 2 patients had mastocytoma. The male-female ratio was: 1/1.6. The median age for onset of disease was 12.1 months and the disease occured in the newborn period in 3 patients. While all patients had eruption, 10 patients had pruritis, 1 patient had a bullous formation, 1 patient had abdominal pain and 1 patient had attacks of redness throughout the body and a sense of burning in the chest. Two patients had a positive familial history. The diagnosis was confirmed with skin biopsy in all patients. The median follow up time of the patients were 5 years. The patients were treated with H1, H2 antihistaminics, local moisturizing cr...
We present a case of hepatic mucormycosis in a 9-year-old boy with acute lymphoblastic leukaemia.... more We present a case of hepatic mucormycosis in a 9-year-old boy with acute lymphoblastic leukaemia. Despite long-term use of combined liposomal amphotericin B and posaconazole therapy, the lesion persisted and could only be treated by surgical excision. After surgery, antifungal treatment was continued with posaconazole. On follow-up, the patient had two episodes of ascending cholangitis which were responsive to intravenous antibiotics. He is doing well at the moment in remission for 2.5 years. Mucormycosis was long regarded as a fatal infection with poor prognosis. With early medical and surgical management, survival rates increase. Isolated hepatic mucormycosis is rare and only seven cases were reported in the literature up to now. We wanted to emphasise the role of early surgery in patients with hepatic mucormycosis in view of the literature.
Renal cell carcinoma is a tumor that is well known for a high rate of metastasis to several locat... more Renal cell carcinoma is a tumor that is well known for a high rate of metastasis to several locations like the lung, liver and bones. Skeletal muscle is a rare location for dissemination of the disease. Herein, we describe a 7-year-old boy who presented with flank pain. On physical examination, an abdominal mass located on the left kidney as well as a solid palpable lesion on the left upper arm were detected. Total nephrectomy with subsequent excision of the arm mass was performed. Pathology examination revealed presence of translocation renal cell carcinoma. The patient received α-interferon followed by multikinase inhibitor (Sorafenib) treatment but was lost due to progressive disease. This is the first description of a pediatric patient with skeletal muscle metastases of translocation renal cell carcinoma in the literature.
The NOTCH signaling pathway plays important role in the development of multicellular organisms, a... more The NOTCH signaling pathway plays important role in the development of multicellular organisms, as it regulates cell proliferation, survival, and differentiation. In adults, it is essential for the T- or B-lymphocyte lineage commitment. NOTCH1 and FBXW7 mutations both lead the activation of the NOTCH1 pathway and are found in the majority of T-ALL patients. In this study, the mutation analysis of NOTCH1 and FBXW7 genes was performed in 87 pediatric T-ALLs who were treated on the ALL-BFM protocols. In 19 patients (22%), activating NOTCH1 mutations were observed either in the heterodimerization domain or in the PEST domain and 7 cases (10%) demonstrated FBXW7 mutations (2 cases had both NOTCH1 and FBXW7 mutations). We also analyzed the relationship of the mutation data between the clinical and biological data of the patients. NOTCH1 and FBXW7, NOTCH1 alone were found correlated with lower initial leucocyte counts which was independent from the sex and T- cell immunophenotype. However, NOTCH1 and FBXW7 mutations were not predictive of outcome in the overall cohort of pediatric T-ALLs.
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