Enteric fever is a common infectious disease of the tropical world. Characteristic presenting fea... more Enteric fever is a common infectious disease of the tropical world. Characteristic presenting features include fever, relative bradycardia, diarrhea or constipation, and abdominal pain. Central nervous system involvement is not rare and has a wide spectrum of presentation in enteric fever. Complications such as meningism, delirium, coma, and convulsions have been reported often. However, isolated acute cerebellar ataxia associated with enteric fever is rare. Here, we report a seven-year-old boy with enteric fever who presented with acute cerebellar ataxia. Following treatment with appropriate antibiotics, the patient showed complete recovery over the next four weeks.
To describe our experience with acute disseminated encephalomyelitis (ADEM) and the relationships... more To describe our experience with acute disseminated encephalomyelitis (ADEM) and the relationships between the clinical course, magnetic resonance imaging (MRI) findings and treatment, a retrospective record review was conducted of 15 children who were admitted with the diagnosis of ADEM during the period 2004-2010. Their ages ranged between 2 and 13 years. Patients presented most often with ataxia (53.3%) and secondly with weakness and headache (46.6%). Myelitis was determined in two patients. Five patients were treated with high-dose intravenous (IV) methylprednisolone followed by oral prednisolone, seven patients were treated with oral prednisolone, one patient was treated with plasmapheresis with IV immunoglobulin (Ig), and one patient was treated with IVIg. We observed recurrence in one patient. ADEM is a demyelinating disorder that is being diagnosed increasingly more as MRI studies are performed more frequently in patients with acute encephalopathy. Early diagnosis and therapy might improve the outcome.
Posterior reversible leukoencephalopathy syndrome (PRES) is a recently described disorder with ty... more Posterior reversible leukoencephalopathy syndrome (PRES) is a recently described disorder with typical radiological findings of bilateral grey and white matter abnormalities in the posterior regions of the cerebral hemispheres. It has been described in children in association with some medications, renal disease, autoimmune disease, transplantation, and sepsis. In this report, we discuss an eight-year-old boy with PRES during pulse methylprednisolone therapy. In conclusion, PRES is a neurological complication of pulse methylprednisolone therapy, which responds favorably to prompt therapy withdrawal and blood pressure control.
A meningitis is an inflammation of the meninges with sterile bacterial cultures of CSF.1 Enterovi... more A meningitis is an inflammation of the meninges with sterile bacterial cultures of CSF.1 Enteroviruses are the most commonly identified cause of aseptic meningitis worldwide. These viruses appear throughout the year, but in temperate climates they are strikingly more prevalent in the summer and fall. Because viral shedding from the gastrointestinal tract is more prolonged than is shedding from the upper respiratory tract, the fecal-oral route is the predominant mode of enteroviral transmission.2 The most severe clinical syndrome caused by enteroviruses is due to infection of the CNS with signs of aseptic meningitis or, less frequently, encephalitis. Although the outcome of enteroviral meningitis is usually favorable in otherwise, healthy and immunocompetent patients, rapid diagnosis and differentiation from bacterial meningitis is imperative because the latter may cause severe neurologic sequelae or even fatal outcome and therefore necessitates immediate antibiotic treatment.3 In this study, we report an unusual community outbreak of aseptic meningitis with a total of 688 patients involved, in the southern region of Turkey, in summer 2005. To determine the possible viral cause of this outbreak, as our hospital is the only reference hospital in the province the specialists and general practitioners dealing with such infections were recommended to transfer the CSF samples of the patients to our clinic for proper storage before their transfer of samples to the Virology Department of Refik Saydam Central Institute of Hygiene (RSCIH) in Ankara. For recording the clinical and laboratory findings with CSF examination results and demographic data of the patients a record form was prepared. Data of the rest of the patients whose CSF samples could not be transferred to our clinic were accessed through medical records of the centers dealing with these patients in the region. The collected CSF samples were transferred at +4°C however, storage conditions before their transfer to our center were not clear. All samples were collected in the acute phase of the disease. The CSF samples of patients were stored at -70°C before transport to the Virology Department of RSCIH in Ankara for viral cultivation. Diagnosis of aseptic meningitis was based on the clinical symptoms indicative of meningitis accompanied by a leukocyte count in the CSF of ≥3/mm3 in the absence of bacterial growth in culture, or any alternative nonviral causes and/ or detection of the viral agent in the CSF. Cell counts of CSF and peripheral blood, CSF analyses for protein and glucose, bacterial cultures, and serum analyses of glucose were performed. Isolation of echovirus was performed by conventional cell culture and micro neutralization methods according to standard procedures as described previously.4 An outbreak of aseptic meningitis in 688 patients occurred in the southern area of Turkey, Hatay between 1 May, and 30 September 2005. Although 688 patients were diagnosed as aseptic meningitis by examination of CSF in the region within this period, only CSF samples of 100 patients could be collected in our center. The highest incidence was in August, 2005, when 354 cases occurred, which accounted for 51.5% of all patients (Figure 1). The patients’ age ranged between 3 months and 46 years with a mean of 8.70 ± 6.88 years. Most of the patients (87.8%) in this outbreak were under 16 years of age. Four hundred and twenty-one (61.2%) patients were male and 267 (38.2%) were female (male: female ratio of 1.58:1). All patients were hospitalized, and the mean hospitalization duration was 5.26 (±2.61) days and minimum one, maximum 21 days. All were discharged without sequelae. During the same period of 2004, only 79 aseptic meningitis cases occurred and most of the cases were in May. The most common clinical manifestations were fever (100%), headache (96%, in older than 4 years old), nausea or vomiting (85%), and neck stiffness (77%, in older than 4 years old). There was a wide variation in the white blood cell (WBC) counts, ranging from 10-1680 cells/mm3 (mean: 192.8±296.4 cells/mm3) and most CSF WBC counts (61%) were less than 100 cells/mm3. The CSF WBC counts between 100-500 cells/mm3 were found in 29% cases, and were over 500 cells/mm3 in 10%. Lymphocyte cell predominance was observed in 91% cases. The mean CSF value of protein was 42.1 mg/dl (range, 20-58 mg/dl), and hypoglycorrhachia (CSF/serum glucose ratio <2/3) was observed in 12% cases. All of 100 CSF samples collected in our center Brief Communication
Canavan disease, is an autosomal recessive disorder caused by decreased function of the enzyme as... more Canavan disease, is an autosomal recessive disorder caused by decreased function of the enzyme aspartoacylase. The clinical symptoms include macrocephaly, hypotonia, developmental delay, seizures, optic atrophy and dystonia. We reported three patients with psychomotor developmental delay, hypotonia and macrocephaly, who was diagnosed as Canavan disease after the investigations.
Deficiency of Adenosine Deaminase 2 (DADA2) is a monogenic autoinflammatory disorder characterize... more Deficiency of Adenosine Deaminase 2 (DADA2) is a monogenic autoinflammatory disorder characterized by livedo reticularis, skin ulcers, subcutaneous rash, aphthous ulcers, and leukocytoclastic vasculitis, neurological signs such as early onset stroke and polyneuropathy. A minority of DADA2 patients suffer from severe cytopenia and lymphoproliferation. Herein, we report an adolescent patient, followed up as having a hematological disorder for many years, eventually diagnosed as having DADA2. In view of the presence of elevated acute phase reactants, hepatosplenomegaly, low IgM level, lymphopenia, anemia, and neutropenia, and a subtle neurological involvement we considered DADA2 diagnosis. The diagnosis was confirmed by identification of a novel L451W mutation in CECR1 gene. The patient has been successfully treated with etanercept, monthly intravenous immunoglobulin replacement, and low-dose methylprednisolone. In conclusion, although the absence of skin and neurological findings, low IgM levels, and persistent lymphopenia should lead the physicians to consider DADA2 in patients with particularly complicated hematological abnormalities.
Çukurova Üniversitesi Tıp Fakültesi dergisi, Nov 3, 2015
Purpose: Two forms of idiopathic occipital lobe epilepsy can be distinguished: an early onset or ... more Purpose: Two forms of idiopathic occipital lobe epilepsy can be distinguished: an early onset or Panayiotopoulos type (PS), and a late onset or Gastaut type (GS). The aim of this study was to identify clinical manifestations and outcome in Turkish children with idiopathic occipital lobe epilepsy. Material and Methods: Thirty nine children (27 boys, 12 girls) were divided into the PS and GS type, according to the classification for epileptic seizures of the International League Against Epilepsy. Results: Among the 39 patients, 27 (69.3%) were boys and 12 (30.7%) were girls and the mean age at the seizure onset was 77.38 ± 27.33 months (36-145 months). The PS type patients consisted of 27 children (19 boys, 8 girls). The average age of seizure onset in PS type patients was 60.76 ± 14.21 months (range, 36-94 months). The GS type patients consisted of 12 children (8 boys, 4 girls), and seizure onset was 107.7 ± 18.8 months (range, 72-145 months). Ictal vomiting was more common in the PS type patients, and visual symptoms were more common in the GS type patients. We detected that after treatment, 27 patients (100%) in PS type and 10 patients (83.3%) in GS type became seizures-free. Two patients continued having seizures in GS type. Conclusions: The average age of seizure onset was much younger in the PS than in the GS. Also, in idiopathic occipital lobe epilepsy, the PS type has better seizure-free and prognosis than the GS.
Reversible posterior leukoencephalopathy syndrome is characterized clinically by headache, abnorm... more Reversible posterior leukoencephalopathy syndrome is characterized clinically by headache, abnormalities of mental status, and visual perception and seizures. We report a rare case of acute encephalopathy following intravenous immunoglobulin treatment for Guillain-Barré syndrome in whom posterior reversible encephalopathy syndrome developed without severe hypertension.
Gilbert's syndrome is characterized by unconjugated hyperbilirubinemia. A 5-year-old boy presente... more Gilbert's syndrome is characterized by unconjugated hyperbilirubinemia. A 5-year-old boy presented to our hospital with mild hyperbilirubinemia. The patient had persistent unconjugated hyperbilirubinemia with high liver enzymes and creatine phosphokinase. Haemolysis was excluded by normal haemoglobin, and reticulocyte count and finally he was diagnosed to have Gilbert's syndrome. His creatine kinase concentration was 15600 U/l, and he had a deletion in the dystrophin gene. Finally, the patient was diagnosed both Gilbert's syndrome and Duchenne muscular dystrophy. To our knowledge, this is the first report of the concomitance of Duchenne muscular dystrophy and Gilbert's syndrome in the literature.
İmmün trombositopenik purpura çocukluk çağında en sık görülen kanama bozukluklarından birisi olup... more İmmün trombositopenik purpura çocukluk çağında en sık görülen kanama bozukluklarından birisi olup, patogenezinde trombositlere karşı antikorların gelişmesi rol oynamaktadır. İmmün trombositopenik purpura, idiopatik olabildiği gibi, enfeksiyon gibi altta yatan patolojiye bağlı olarak da meydana gelebilmektedir. Biz de varisella enfeksiyonu sonrasında gelişen bir immün trombositopenik purpura olgusunu bildirdik.
Mycoplasma pneumoniae is an important agent of the lower and upper respiratory system infections.... more Mycoplasma pneumoniae is an important agent of the lower and upper respiratory system infections. It may result in some complications and clinical conditions other than infections. Meningoencephalitis, encephalitis, transverse myelitis, acute disseminated encephalomyelitis, cerebral infarction and Gullian-Barre syndrome are major neurological complications. We present here two cases with meningoencephalitis and Gullian-Barre syndrome secondary to Mycoplasma pneumoniae infection.
Guillain-Barré syndrome (GBS) is one of the reasons of acute polyneuropathy causing severe morbid... more Guillain-Barré syndrome (GBS) is one of the reasons of acute polyneuropathy causing severe morbidity and mortality. Forty-six patients with GBS were included in our study. Clinical, laboratory, electrophysiological and prognostic features of the patients were evaluated retrospectively. Patients were divided into two groups. Group A consisted of children who attained a full recovery within 2 months from onset of the disease; group B consisted of children who experienced complete or partial recovery beyond 2 months from onset of the disease. Acute inflammatory demyelinating polyradiculoneuropathy was found in 56.5% of patients and axonal form in 43.5% patients. Antecedent events were found in 28 (60.9%) patients. Five patients (10.8%) needed mechanical ventilation and one patient (2.1%) died. Poor outcome was related with clinic stage and electrophysiological subtypes (axonal form). In our study, poor prognostic factors were related with clinic stage and electrophysiological subtypes (axonal form).
Mersin üniversitesi sağlık bilimleri dergisi, Aug 26, 2020
Aim: Beta-Ketothiolase(T2) and Succinyl-CoA:3-ketoacid CoA transferase(SCOT) enzymes are crucial ... more Aim: Beta-Ketothiolase(T2) and Succinyl-CoA:3-ketoacid CoA transferase(SCOT) enzymes are crucial in ketone body utilization. Deficiencies of these enzymes present in early childhood with recurrent ketoacidosis, triggered by fasting and catabolic states. In this study, we aim to investigate clinical and molecular findings of patients who have defects of ketolysis. Methods:15 patients with T2 and one patient with SCOT deficiency who are followed up in Çukurova University Department of Pediatric Metabolism and Nutrition were included in the study. Medical records were reviewed retrospectively. Results: Eight patients were female. 13 patients had parental consanguinity; 11 had positive family history. Patient with SCOT deficiency had his first ketoacidosis episode at second day of life. Mean age at first episode for T2-deficient patients was 8,0±6,7 months (4 days-105 months). Interestingly, between episodes, SCOT-deficient patient's ketone levels were both positive and negative. Ketone levels were zero for T2-deficient patients between episodes. During episodes, 10 patients had hypoglycemia and six patients had hyperglycemia. Mean number of attacks were 3,8±3,1. For differential diagnosis, acylcarnitine profiles and urine organic acid analysis were studied. Molecular analyses were done for 11 patients,10 had novel mutations. Conclusion: Defects of ketolysis are rare but must be included in the differential diagnosis of organic acidemias. The differences from organic acidemias are persistent ketosis independent from nutritional status and absence of typical acylcarnitine and organic acid profiles. But, SCOT and T2 deficiencies do not require severe protein restriction and cofactor supplementation compared to organic acidemias. As a consequence, they do not interfere with life quality and growth like organic acidemias.
Öz Purpose: In various studies low telomerase activity have been shown to have a protective role ... more Öz Purpose: In various studies low telomerase activity have been shown to have a protective role in some types of cancer. Patients with neurofibromatosis type-1 (NF1) are at risk of developing certain types of cancer. Prognosis is generally better in patients with NF1 than those without NF1. In the present study, we aimed to measure telomerase activity in patients with NF1 and in controls. Materials and Methods: Telomerase activity was investigated in peripheral blood samples with human telomerase reverse transcriptase (hTERT) mRNA by using real time reverse transcriptase polymerase chain reaction (RT-PCR) method and Light Cycler 480 system. Results: hTERT expression was investigated in blood samples of 48 patients with a diagnosis of NF1 and in 37 controls. Telomerase activity was positive in 36 of 48 (75%) patients with NF1 and 23 of 37 patients (73%) without NF1. Telomerase activity was positive in 31 of 36 patients (86%) with NF1 having a benign or malignant tumor, whereas it was positive in 5 of 12 NF1 patients (41.6%) without a tumor. Conclusion: Detection of hTERT expression in patients with NF1 can be used as a useful marker for tumorigenesis. Additional studies need to be done to know whether detection of hTERT expression in low-grade tumors would help predict progression to high-grade tumors.
Çukurova Üniversitesi Tıp Fakültesi dergisi, Dec 1, 2014
Melkersson-Rosenthal sendromu (MRS), tekrarlayan fasiyal paralizi, orofasiyal ödem, dilde fissürl... more Melkersson-Rosenthal sendromu (MRS), tekrarlayan fasiyal paralizi, orofasiyal ödem, dilde fissürle karakterize nadir bir nöromukokütanöz sendromdur.Oligosemptomatik ve monosemptomatik olgular, klasik triaddan sık görülür.Bulguların ikisinin görülmesi veya bulguların biri ve biyopside granülomatöz keilitin varlığı Melkersson-Rosenthal sendromu tanısı için yeterlidir. Bu yazıda Melkersson-Rosenthal sendromu tanısı alan 12 yaşında bir erkek sunulmuştur.
Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder caused by mutations in the... more Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder caused by mutations in the aldehyde dehydrogenase family 3 member A2 (ALDH3A2) gene that encodes fatty aldehyde dehydrogenase. Affected patients display ichthyosis, mental retardation, and spastic diplegia. More than 70 mutations in ALDH3A2 have been discovered in SLS patients. We diagnosed two brothers age of 12 and 20 years with characteristic features of this rare syndrome. Magnetic resonance imaging showed demyelinating disease in both of them. We described a novel homozygous, c. 835 T &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt; A (p.Y279N) mutation in exon 6 in two patients.
Enteric fever is a common infectious disease of the tropical world. Characteristic presenting fea... more Enteric fever is a common infectious disease of the tropical world. Characteristic presenting features include fever, relative bradycardia, diarrhea or constipation, and abdominal pain. Central nervous system involvement is not rare and has a wide spectrum of presentation in enteric fever. Complications such as meningism, delirium, coma, and convulsions have been reported often. However, isolated acute cerebellar ataxia associated with enteric fever is rare. Here, we report a seven-year-old boy with enteric fever who presented with acute cerebellar ataxia. Following treatment with appropriate antibiotics, the patient showed complete recovery over the next four weeks.
To describe our experience with acute disseminated encephalomyelitis (ADEM) and the relationships... more To describe our experience with acute disseminated encephalomyelitis (ADEM) and the relationships between the clinical course, magnetic resonance imaging (MRI) findings and treatment, a retrospective record review was conducted of 15 children who were admitted with the diagnosis of ADEM during the period 2004-2010. Their ages ranged between 2 and 13 years. Patients presented most often with ataxia (53.3%) and secondly with weakness and headache (46.6%). Myelitis was determined in two patients. Five patients were treated with high-dose intravenous (IV) methylprednisolone followed by oral prednisolone, seven patients were treated with oral prednisolone, one patient was treated with plasmapheresis with IV immunoglobulin (Ig), and one patient was treated with IVIg. We observed recurrence in one patient. ADEM is a demyelinating disorder that is being diagnosed increasingly more as MRI studies are performed more frequently in patients with acute encephalopathy. Early diagnosis and therapy might improve the outcome.
Posterior reversible leukoencephalopathy syndrome (PRES) is a recently described disorder with ty... more Posterior reversible leukoencephalopathy syndrome (PRES) is a recently described disorder with typical radiological findings of bilateral grey and white matter abnormalities in the posterior regions of the cerebral hemispheres. It has been described in children in association with some medications, renal disease, autoimmune disease, transplantation, and sepsis. In this report, we discuss an eight-year-old boy with PRES during pulse methylprednisolone therapy. In conclusion, PRES is a neurological complication of pulse methylprednisolone therapy, which responds favorably to prompt therapy withdrawal and blood pressure control.
A meningitis is an inflammation of the meninges with sterile bacterial cultures of CSF.1 Enterovi... more A meningitis is an inflammation of the meninges with sterile bacterial cultures of CSF.1 Enteroviruses are the most commonly identified cause of aseptic meningitis worldwide. These viruses appear throughout the year, but in temperate climates they are strikingly more prevalent in the summer and fall. Because viral shedding from the gastrointestinal tract is more prolonged than is shedding from the upper respiratory tract, the fecal-oral route is the predominant mode of enteroviral transmission.2 The most severe clinical syndrome caused by enteroviruses is due to infection of the CNS with signs of aseptic meningitis or, less frequently, encephalitis. Although the outcome of enteroviral meningitis is usually favorable in otherwise, healthy and immunocompetent patients, rapid diagnosis and differentiation from bacterial meningitis is imperative because the latter may cause severe neurologic sequelae or even fatal outcome and therefore necessitates immediate antibiotic treatment.3 In this study, we report an unusual community outbreak of aseptic meningitis with a total of 688 patients involved, in the southern region of Turkey, in summer 2005. To determine the possible viral cause of this outbreak, as our hospital is the only reference hospital in the province the specialists and general practitioners dealing with such infections were recommended to transfer the CSF samples of the patients to our clinic for proper storage before their transfer of samples to the Virology Department of Refik Saydam Central Institute of Hygiene (RSCIH) in Ankara. For recording the clinical and laboratory findings with CSF examination results and demographic data of the patients a record form was prepared. Data of the rest of the patients whose CSF samples could not be transferred to our clinic were accessed through medical records of the centers dealing with these patients in the region. The collected CSF samples were transferred at +4°C however, storage conditions before their transfer to our center were not clear. All samples were collected in the acute phase of the disease. The CSF samples of patients were stored at -70°C before transport to the Virology Department of RSCIH in Ankara for viral cultivation. Diagnosis of aseptic meningitis was based on the clinical symptoms indicative of meningitis accompanied by a leukocyte count in the CSF of ≥3/mm3 in the absence of bacterial growth in culture, or any alternative nonviral causes and/ or detection of the viral agent in the CSF. Cell counts of CSF and peripheral blood, CSF analyses for protein and glucose, bacterial cultures, and serum analyses of glucose were performed. Isolation of echovirus was performed by conventional cell culture and micro neutralization methods according to standard procedures as described previously.4 An outbreak of aseptic meningitis in 688 patients occurred in the southern area of Turkey, Hatay between 1 May, and 30 September 2005. Although 688 patients were diagnosed as aseptic meningitis by examination of CSF in the region within this period, only CSF samples of 100 patients could be collected in our center. The highest incidence was in August, 2005, when 354 cases occurred, which accounted for 51.5% of all patients (Figure 1). The patients’ age ranged between 3 months and 46 years with a mean of 8.70 ± 6.88 years. Most of the patients (87.8%) in this outbreak were under 16 years of age. Four hundred and twenty-one (61.2%) patients were male and 267 (38.2%) were female (male: female ratio of 1.58:1). All patients were hospitalized, and the mean hospitalization duration was 5.26 (±2.61) days and minimum one, maximum 21 days. All were discharged without sequelae. During the same period of 2004, only 79 aseptic meningitis cases occurred and most of the cases were in May. The most common clinical manifestations were fever (100%), headache (96%, in older than 4 years old), nausea or vomiting (85%), and neck stiffness (77%, in older than 4 years old). There was a wide variation in the white blood cell (WBC) counts, ranging from 10-1680 cells/mm3 (mean: 192.8±296.4 cells/mm3) and most CSF WBC counts (61%) were less than 100 cells/mm3. The CSF WBC counts between 100-500 cells/mm3 were found in 29% cases, and were over 500 cells/mm3 in 10%. Lymphocyte cell predominance was observed in 91% cases. The mean CSF value of protein was 42.1 mg/dl (range, 20-58 mg/dl), and hypoglycorrhachia (CSF/serum glucose ratio <2/3) was observed in 12% cases. All of 100 CSF samples collected in our center Brief Communication
Canavan disease, is an autosomal recessive disorder caused by decreased function of the enzyme as... more Canavan disease, is an autosomal recessive disorder caused by decreased function of the enzyme aspartoacylase. The clinical symptoms include macrocephaly, hypotonia, developmental delay, seizures, optic atrophy and dystonia. We reported three patients with psychomotor developmental delay, hypotonia and macrocephaly, who was diagnosed as Canavan disease after the investigations.
Deficiency of Adenosine Deaminase 2 (DADA2) is a monogenic autoinflammatory disorder characterize... more Deficiency of Adenosine Deaminase 2 (DADA2) is a monogenic autoinflammatory disorder characterized by livedo reticularis, skin ulcers, subcutaneous rash, aphthous ulcers, and leukocytoclastic vasculitis, neurological signs such as early onset stroke and polyneuropathy. A minority of DADA2 patients suffer from severe cytopenia and lymphoproliferation. Herein, we report an adolescent patient, followed up as having a hematological disorder for many years, eventually diagnosed as having DADA2. In view of the presence of elevated acute phase reactants, hepatosplenomegaly, low IgM level, lymphopenia, anemia, and neutropenia, and a subtle neurological involvement we considered DADA2 diagnosis. The diagnosis was confirmed by identification of a novel L451W mutation in CECR1 gene. The patient has been successfully treated with etanercept, monthly intravenous immunoglobulin replacement, and low-dose methylprednisolone. In conclusion, although the absence of skin and neurological findings, low IgM levels, and persistent lymphopenia should lead the physicians to consider DADA2 in patients with particularly complicated hematological abnormalities.
Çukurova Üniversitesi Tıp Fakültesi dergisi, Nov 3, 2015
Purpose: Two forms of idiopathic occipital lobe epilepsy can be distinguished: an early onset or ... more Purpose: Two forms of idiopathic occipital lobe epilepsy can be distinguished: an early onset or Panayiotopoulos type (PS), and a late onset or Gastaut type (GS). The aim of this study was to identify clinical manifestations and outcome in Turkish children with idiopathic occipital lobe epilepsy. Material and Methods: Thirty nine children (27 boys, 12 girls) were divided into the PS and GS type, according to the classification for epileptic seizures of the International League Against Epilepsy. Results: Among the 39 patients, 27 (69.3%) were boys and 12 (30.7%) were girls and the mean age at the seizure onset was 77.38 ± 27.33 months (36-145 months). The PS type patients consisted of 27 children (19 boys, 8 girls). The average age of seizure onset in PS type patients was 60.76 ± 14.21 months (range, 36-94 months). The GS type patients consisted of 12 children (8 boys, 4 girls), and seizure onset was 107.7 ± 18.8 months (range, 72-145 months). Ictal vomiting was more common in the PS type patients, and visual symptoms were more common in the GS type patients. We detected that after treatment, 27 patients (100%) in PS type and 10 patients (83.3%) in GS type became seizures-free. Two patients continued having seizures in GS type. Conclusions: The average age of seizure onset was much younger in the PS than in the GS. Also, in idiopathic occipital lobe epilepsy, the PS type has better seizure-free and prognosis than the GS.
Reversible posterior leukoencephalopathy syndrome is characterized clinically by headache, abnorm... more Reversible posterior leukoencephalopathy syndrome is characterized clinically by headache, abnormalities of mental status, and visual perception and seizures. We report a rare case of acute encephalopathy following intravenous immunoglobulin treatment for Guillain-Barré syndrome in whom posterior reversible encephalopathy syndrome developed without severe hypertension.
Gilbert's syndrome is characterized by unconjugated hyperbilirubinemia. A 5-year-old boy presente... more Gilbert's syndrome is characterized by unconjugated hyperbilirubinemia. A 5-year-old boy presented to our hospital with mild hyperbilirubinemia. The patient had persistent unconjugated hyperbilirubinemia with high liver enzymes and creatine phosphokinase. Haemolysis was excluded by normal haemoglobin, and reticulocyte count and finally he was diagnosed to have Gilbert's syndrome. His creatine kinase concentration was 15600 U/l, and he had a deletion in the dystrophin gene. Finally, the patient was diagnosed both Gilbert's syndrome and Duchenne muscular dystrophy. To our knowledge, this is the first report of the concomitance of Duchenne muscular dystrophy and Gilbert's syndrome in the literature.
İmmün trombositopenik purpura çocukluk çağında en sık görülen kanama bozukluklarından birisi olup... more İmmün trombositopenik purpura çocukluk çağında en sık görülen kanama bozukluklarından birisi olup, patogenezinde trombositlere karşı antikorların gelişmesi rol oynamaktadır. İmmün trombositopenik purpura, idiopatik olabildiği gibi, enfeksiyon gibi altta yatan patolojiye bağlı olarak da meydana gelebilmektedir. Biz de varisella enfeksiyonu sonrasında gelişen bir immün trombositopenik purpura olgusunu bildirdik.
Mycoplasma pneumoniae is an important agent of the lower and upper respiratory system infections.... more Mycoplasma pneumoniae is an important agent of the lower and upper respiratory system infections. It may result in some complications and clinical conditions other than infections. Meningoencephalitis, encephalitis, transverse myelitis, acute disseminated encephalomyelitis, cerebral infarction and Gullian-Barre syndrome are major neurological complications. We present here two cases with meningoencephalitis and Gullian-Barre syndrome secondary to Mycoplasma pneumoniae infection.
Guillain-Barré syndrome (GBS) is one of the reasons of acute polyneuropathy causing severe morbid... more Guillain-Barré syndrome (GBS) is one of the reasons of acute polyneuropathy causing severe morbidity and mortality. Forty-six patients with GBS were included in our study. Clinical, laboratory, electrophysiological and prognostic features of the patients were evaluated retrospectively. Patients were divided into two groups. Group A consisted of children who attained a full recovery within 2 months from onset of the disease; group B consisted of children who experienced complete or partial recovery beyond 2 months from onset of the disease. Acute inflammatory demyelinating polyradiculoneuropathy was found in 56.5% of patients and axonal form in 43.5% patients. Antecedent events were found in 28 (60.9%) patients. Five patients (10.8%) needed mechanical ventilation and one patient (2.1%) died. Poor outcome was related with clinic stage and electrophysiological subtypes (axonal form). In our study, poor prognostic factors were related with clinic stage and electrophysiological subtypes (axonal form).
Mersin üniversitesi sağlık bilimleri dergisi, Aug 26, 2020
Aim: Beta-Ketothiolase(T2) and Succinyl-CoA:3-ketoacid CoA transferase(SCOT) enzymes are crucial ... more Aim: Beta-Ketothiolase(T2) and Succinyl-CoA:3-ketoacid CoA transferase(SCOT) enzymes are crucial in ketone body utilization. Deficiencies of these enzymes present in early childhood with recurrent ketoacidosis, triggered by fasting and catabolic states. In this study, we aim to investigate clinical and molecular findings of patients who have defects of ketolysis. Methods:15 patients with T2 and one patient with SCOT deficiency who are followed up in Çukurova University Department of Pediatric Metabolism and Nutrition were included in the study. Medical records were reviewed retrospectively. Results: Eight patients were female. 13 patients had parental consanguinity; 11 had positive family history. Patient with SCOT deficiency had his first ketoacidosis episode at second day of life. Mean age at first episode for T2-deficient patients was 8,0±6,7 months (4 days-105 months). Interestingly, between episodes, SCOT-deficient patient's ketone levels were both positive and negative. Ketone levels were zero for T2-deficient patients between episodes. During episodes, 10 patients had hypoglycemia and six patients had hyperglycemia. Mean number of attacks were 3,8±3,1. For differential diagnosis, acylcarnitine profiles and urine organic acid analysis were studied. Molecular analyses were done for 11 patients,10 had novel mutations. Conclusion: Defects of ketolysis are rare but must be included in the differential diagnosis of organic acidemias. The differences from organic acidemias are persistent ketosis independent from nutritional status and absence of typical acylcarnitine and organic acid profiles. But, SCOT and T2 deficiencies do not require severe protein restriction and cofactor supplementation compared to organic acidemias. As a consequence, they do not interfere with life quality and growth like organic acidemias.
Öz Purpose: In various studies low telomerase activity have been shown to have a protective role ... more Öz Purpose: In various studies low telomerase activity have been shown to have a protective role in some types of cancer. Patients with neurofibromatosis type-1 (NF1) are at risk of developing certain types of cancer. Prognosis is generally better in patients with NF1 than those without NF1. In the present study, we aimed to measure telomerase activity in patients with NF1 and in controls. Materials and Methods: Telomerase activity was investigated in peripheral blood samples with human telomerase reverse transcriptase (hTERT) mRNA by using real time reverse transcriptase polymerase chain reaction (RT-PCR) method and Light Cycler 480 system. Results: hTERT expression was investigated in blood samples of 48 patients with a diagnosis of NF1 and in 37 controls. Telomerase activity was positive in 36 of 48 (75%) patients with NF1 and 23 of 37 patients (73%) without NF1. Telomerase activity was positive in 31 of 36 patients (86%) with NF1 having a benign or malignant tumor, whereas it was positive in 5 of 12 NF1 patients (41.6%) without a tumor. Conclusion: Detection of hTERT expression in patients with NF1 can be used as a useful marker for tumorigenesis. Additional studies need to be done to know whether detection of hTERT expression in low-grade tumors would help predict progression to high-grade tumors.
Çukurova Üniversitesi Tıp Fakültesi dergisi, Dec 1, 2014
Melkersson-Rosenthal sendromu (MRS), tekrarlayan fasiyal paralizi, orofasiyal ödem, dilde fissürl... more Melkersson-Rosenthal sendromu (MRS), tekrarlayan fasiyal paralizi, orofasiyal ödem, dilde fissürle karakterize nadir bir nöromukokütanöz sendromdur.Oligosemptomatik ve monosemptomatik olgular, klasik triaddan sık görülür.Bulguların ikisinin görülmesi veya bulguların biri ve biyopside granülomatöz keilitin varlığı Melkersson-Rosenthal sendromu tanısı için yeterlidir. Bu yazıda Melkersson-Rosenthal sendromu tanısı alan 12 yaşında bir erkek sunulmuştur.
Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder caused by mutations in the... more Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder caused by mutations in the aldehyde dehydrogenase family 3 member A2 (ALDH3A2) gene that encodes fatty aldehyde dehydrogenase. Affected patients display ichthyosis, mental retardation, and spastic diplegia. More than 70 mutations in ALDH3A2 have been discovered in SLS patients. We diagnosed two brothers age of 12 and 20 years with characteristic features of this rare syndrome. Magnetic resonance imaging showed demyelinating disease in both of them. We described a novel homozygous, c. 835 T &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt; A (p.Y279N) mutation in exon 6 in two patients.
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