Recently, it is time to shift from a reactive attitude that treats patients after the onset of se... more Recently, it is time to shift from a reactive attitude that treats patients after the onset of seizures to a proactive one integrated into a broader "P4 medicine" approach in the treatment of epilepsy. Personalized, predictive, preventive, and participatory, this P4 approach puts patients at the center of their care and ultimately aims to prevent the onset of epilepsy. This goal will be achieved by tailoring epilepsy treatments not only to a particular syndrome but also to a particular patient and moving from the usual anti-seizure treatments to individualized treatments designed to target specific etiologies. In this review, we present the current state of this ongoing revolution, highlighting the emergence of the concepts of precision medicine and individualized medicine and its impact on clinical practice in pediatric epilepsies.
Sturge Weber sendromunda erken infantil donemde nobetler goruldugunde, hemiparezinin erken donemd... more Sturge Weber sendromunda erken infantil donemde nobetler goruldugunde, hemiparezinin erken donemde gelistigi, nobetlerin direncli olabildigi ve mental motor retardasyonun ilerleyici oldugu bilinmektedir. Son zamanlarda bu olgula-ra erken cerrahi mudahale yapilmasi onerilmektedir. Bu yazida kompleks parsiyel nobetler seklinde direncli nobetler-le gelen ve basarili bir sekilde sol fonksiyonel hemisferektomi yapilan Sturge-Weber sendromlu bir olgu sunulmustur. 21 aylik kiz olgu 2.5 aylikken baslayan vucudun sag tarafina lokalize nobetler nedeniyle hastanemize getirildi. Gunde 10 defaya kadar olabilen bu nobetler atesli hastaliklari sirasinda statusa neden oluyordu. Fizik muayenesinde sol yuz yarisi ve boyunda hemajiomu mevcut olan hastanin sag hemiparezi ve mikrosefalisi mevcuttu. Beyin manyetik rezo-nans incelemesinde sol serebral hemisfer temporooksipital loblarda anjioma ve gliozis saptandi. Fenobarbital, karbamazepin ve valproat tedavileri maksimum dozlarda kullanilmasina ragmen 6 ...
Recently, it is time to shift from a reactive attitude that treats patients after the onset of se... more Recently, it is time to shift from a reactive attitude that treats patients after the onset of seizures to a proactive one integrated into a broader "P4 medicine" approach in the treatment of epilepsy. Personalized, predictive, preventive, and participatory, this P4 approach puts patients at the center of their care and ultimately aims to prevent the onset of epilepsy. This goal will be achieved by tailoring epilepsy treatments not only to a particular syndrome but also to a particular patient and moving from the usual anti-seizure treatments to individualized treatments designed to target specific etiologies. In this review, we present the current state of this ongoing revolution, highlighting the emergence of the concepts of precision medicine and individualized medicine and its impact on clinical practice in pediatric epilepsies.
muscle to determine metabolic changes in a subgroup of patients. The strength assessments detecte... more muscle to determine metabolic changes in a subgroup of patients. The strength assessments detected statistically significant change over a year in multiple muscle groups. MMT showed significant change with shoulder abduction, elbow flexion biceps, wrist flexion, hip adduction and hip flexion. HHD also indicated significant change for elbow flexion biceps, hip adduction, elbow flexion brachioradialis, grip, pinch, knee extension, knee flexion and ankle PF knee bent. The functional tests, MFM and NSAA both highlighted statistically significant change as did stacking cans and writing on the Jebsen. All timed tests were statistically sensitive to change over a year. MRI fat fraction showed significant change over a year in both the thigh and calf muscles. In the opposite, water T2 did not change significantly. These data allow exploration of relationships between physiotherapy data and MRI with respect to how these potential outcome measures perform in the dysferlin population.
Journal of Turgut Ozal Medical Center, Aug 1, 2008
Methyl malonic acidemia is a rare form of organic acidemias (that frequently observed with the ne... more Methyl malonic acidemia is a rare form of organic acidemias (that frequently observed with the neurological findings). It was noted that optic atrophy could be developed as a rare complication. An 8- year-old girl presented to our hospital with growth retardation, weight loss and vomiting. Her weight and length were (l3 P) and neutropenia was determined. During follow-up, metabolic acidosis was diagnosed in this patient after detection of acidotic respiration, (midriatic pupils, loss of light reflex and optic atrophy )- an indicative of optic nerve disease. Cranial MRI revealed mild atrophy and symmetrical hyperintensity in peritrigonal and lentiform nuclei in T2-weighted images. The patient had lactic acidemia and methyl malonic acidemia was detected with urinary organic acid screening. It was emphasized that methymalonic acidemia patients required to follow-up for optic nerve involvement. Key words: Methylmalonic Acidemia, Optic Nerve, Childhood.
Acute disseminated encephalomyelitis (ADEM) is an acute demyelinating infection of the CNS that i... more Acute disseminated encephalomyelitis (ADEM) is an acute demyelinating infection of the CNS that is characterized by multifocal white matter involvement often following an infection and vaccination. A 16-year-old child receiving risperidone for 7 years for the treatment of attention-deficit/hyperactivity disorder was hospitalized with complaints of double-vision during the past month and weakness on his right side, ataxia, and vomiting over the past 3 days. The child was diagnosed with ADEM after clinical, laboratory, and cranial MRI was conducted. Following an initial 3-day therapy with pulsed methylprednisolone, the child showed obvious clinical improvement. The treatment was continued with prednisolone and significant improvement was achieved. Enterovirus was detected in the results of the viral examination of the CSF. This child was found to be an interesting case having been diagnosed with ADEM associated with enteroviral infection, because of the rarity of few case reports in the literature.
Neuromyelitis optica is an inflammatory central nervous system syndrome associated with serum aqu... more Neuromyelitis optica is an inflammatory central nervous system syndrome associated with serum aquaporin-4 IgG antibody. Optic nerve and spinal cord involvement is typical. We report a 9-year-old girl with a diagnosis of neuromyelitis optica, who developed azathioprine-induced pancytopenia that was subsequently found to be caused by thiopurine-methyltransferase mutation.
Ketogenic diet (KD) remains a valuable treatment option for children with drug-resistant epilepsy... more Ketogenic diet (KD) remains a valuable treatment option for children with drug-resistant epilepsy. However, it may cause many well-known adverse effects such as dyslipidemia or kidney stones. But, its effects on thyroid functions are largely unknown. The aim of this study was to investigate the effects of the KD on thyroid functions in children with drug-resistant epilepsy. A total of 66 children (35 females) aged 3–193 months (median, 52 months) with drug-resistant epilepsy who received a KD for at least 12 months were enrolled in the study. All children were started on KD with 3:1 ratio which was then adjusted as clinically necessary. Serum free-thyroxine (FT4) and thyroid stimulating hormone (TSH) concentrations were measured before starting treatment and at the first, sixth and twelfth months of treatment. Changes in FT4 and TSH concentrations over 12 months were analyzed. Median serum FT4 and TSH concentrations, and the frequencies of patients with low FT4 and high TSH concentrations did not change significantly in the study sample over the 12-month study period. Serum FT4 levels increased significantly and TSH concentrations decreased insignificantly in four patients receiving L-thyroxine replacement therapy. During the 12-month treatment period, BMI-SDS increased, and the number of antiepileptic drugs decreased significantly. It appears that KD therapy does not impair thyroid functions in children with drug-resistant epilepsy. KD can be used safely along with L-thyroxine replacement even in children with pre-existing subclinical hypothyroidism.
Objective: The aim of our study determination of malnutrition risk and prevalence in patients who... more Objective: The aim of our study determination of malnutrition risk and prevalence in patients who were hospitalized in the pediatric neurology clinic. Methods: Two hundred patients were evaluated in this prospective study using STRONGkids tool and anthropometric measurements. Results: At the time of admission, it was found that 42 (21%) of the patients had malnutrition; 12 (6%) had chronic malnutrition, and 30 (15%) had acute malnutrition. Epilepsy was the most common diagnosis (44.5%). According to the STRONGkids, 55% of patients had a moderate or high risk. The mean length of hospitalization in high-risk patients was statistically significantly higher than other risk groups (p=0.022). Our study showed that patients at high risk of developing malnutrition in the pediatric neurology service can be identified with STRONGkids in a short time. Conclusion: Malnutrition is an important problem for patients hospitalized in pediatric neurology clinics. As a result we recommend applying the STRONGkids screening scale to patients to increase the awareness of healthcare professionals in determining the risk of malnutrition at the time of hospitalization in the pediatric neurology service.
21st International Congress of the World-Muscle-Society -- OCT 04-08, 2016 -- Granada, SPAINWOS: ... more 21st International Congress of the World-Muscle-Society -- OCT 04-08, 2016 -- Granada, SPAINWOS: 000384790100309World Muscle So
European Journal of Paediatric Neurology, May 1, 2008
Posters, Epilepsy diagnosis (EpiD) S31 in 5 children. They experienced partial seizures mainly wi... more Posters, Epilepsy diagnosis (EpiD) S31 in 5 children. They experienced partial seizures mainly with seconadary generalization. EEGs disclosed bilateral or focal spike-wave discharges. Stable seizure control (seizure frequency reduction of 50−75%) was achieved in 7 patients with one of the new AEDs started after the conventional antiepileptic treatment failed. Two patients achieved longterm seizure freedom. Intractable seizures occurred in 3 patients. Conclusions: Lissencephaly as a cortical malformation is associated with mainly unfavorable clinical course and poor outcome relating neurological and cognitive functions. Despite of diffuse nature of malformation, both focal seizures and EEG abnormalities are often seen.
Background. Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a very rare auto... more Background. Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a very rare autosomal recessive disorder caused by mutations in the immunoglobulin μ-binding protein-2 (IGHMBP2) gene on chromosome 11q13.2-q13.4. The initial symptoms of patients with SMARD1 are respiratory distress and distal muscle weakness manifesting in the infantile period due to progressive degeneration of α-motor neurons. Preterm birth, intrauterine growth retardation, feet deformities, sensory and autonomic neuropathy are other main features. Case. Herein, we report the characteristics of a 6-year-old Turkish girl with a diagnosis of SMARD1 confirmed by homozygous c.1738G>A (p.Val580Ile) missense IGHMBP2 variant. She had unusual features such as vocal cord paralysis, nystagmus, and lack of congenital foot deformities besides typical findings including hypotonia, respiratory distress, and diaphragmatic weakness in the early infantile period. Epileptic seizures, cognitive impairment, and brain magnetic resonance imaging (MRI) abnormalities were other, unexpected, features which developed during the course of the disorder possibly due to several hypoxic episodes. Conclusions. SMARD1 should be kept in mind in hypotonic infants with diaphragmatic weakness and respiratory failure during the early infantile period, even in the presence of unexpected findings including vocal cord paralysis, nystagmus, epileptic seizures, and brain MRI abnormalities.
Recently, it is time to shift from a reactive attitude that treats patients after the onset of se... more Recently, it is time to shift from a reactive attitude that treats patients after the onset of seizures to a proactive one integrated into a broader "P4 medicine" approach in the treatment of epilepsy. Personalized, predictive, preventive, and participatory, this P4 approach puts patients at the center of their care and ultimately aims to prevent the onset of epilepsy. This goal will be achieved by tailoring epilepsy treatments not only to a particular syndrome but also to a particular patient and moving from the usual anti-seizure treatments to individualized treatments designed to target specific etiologies. In this review, we present the current state of this ongoing revolution, highlighting the emergence of the concepts of precision medicine and individualized medicine and its impact on clinical practice in pediatric epilepsies.
Sturge Weber sendromunda erken infantil donemde nobetler goruldugunde, hemiparezinin erken donemd... more Sturge Weber sendromunda erken infantil donemde nobetler goruldugunde, hemiparezinin erken donemde gelistigi, nobetlerin direncli olabildigi ve mental motor retardasyonun ilerleyici oldugu bilinmektedir. Son zamanlarda bu olgula-ra erken cerrahi mudahale yapilmasi onerilmektedir. Bu yazida kompleks parsiyel nobetler seklinde direncli nobetler-le gelen ve basarili bir sekilde sol fonksiyonel hemisferektomi yapilan Sturge-Weber sendromlu bir olgu sunulmustur. 21 aylik kiz olgu 2.5 aylikken baslayan vucudun sag tarafina lokalize nobetler nedeniyle hastanemize getirildi. Gunde 10 defaya kadar olabilen bu nobetler atesli hastaliklari sirasinda statusa neden oluyordu. Fizik muayenesinde sol yuz yarisi ve boyunda hemajiomu mevcut olan hastanin sag hemiparezi ve mikrosefalisi mevcuttu. Beyin manyetik rezo-nans incelemesinde sol serebral hemisfer temporooksipital loblarda anjioma ve gliozis saptandi. Fenobarbital, karbamazepin ve valproat tedavileri maksimum dozlarda kullanilmasina ragmen 6 ...
Recently, it is time to shift from a reactive attitude that treats patients after the onset of se... more Recently, it is time to shift from a reactive attitude that treats patients after the onset of seizures to a proactive one integrated into a broader "P4 medicine" approach in the treatment of epilepsy. Personalized, predictive, preventive, and participatory, this P4 approach puts patients at the center of their care and ultimately aims to prevent the onset of epilepsy. This goal will be achieved by tailoring epilepsy treatments not only to a particular syndrome but also to a particular patient and moving from the usual anti-seizure treatments to individualized treatments designed to target specific etiologies. In this review, we present the current state of this ongoing revolution, highlighting the emergence of the concepts of precision medicine and individualized medicine and its impact on clinical practice in pediatric epilepsies.
muscle to determine metabolic changes in a subgroup of patients. The strength assessments detecte... more muscle to determine metabolic changes in a subgroup of patients. The strength assessments detected statistically significant change over a year in multiple muscle groups. MMT showed significant change with shoulder abduction, elbow flexion biceps, wrist flexion, hip adduction and hip flexion. HHD also indicated significant change for elbow flexion biceps, hip adduction, elbow flexion brachioradialis, grip, pinch, knee extension, knee flexion and ankle PF knee bent. The functional tests, MFM and NSAA both highlighted statistically significant change as did stacking cans and writing on the Jebsen. All timed tests were statistically sensitive to change over a year. MRI fat fraction showed significant change over a year in both the thigh and calf muscles. In the opposite, water T2 did not change significantly. These data allow exploration of relationships between physiotherapy data and MRI with respect to how these potential outcome measures perform in the dysferlin population.
Journal of Turgut Ozal Medical Center, Aug 1, 2008
Methyl malonic acidemia is a rare form of organic acidemias (that frequently observed with the ne... more Methyl malonic acidemia is a rare form of organic acidemias (that frequently observed with the neurological findings). It was noted that optic atrophy could be developed as a rare complication. An 8- year-old girl presented to our hospital with growth retardation, weight loss and vomiting. Her weight and length were (l3 P) and neutropenia was determined. During follow-up, metabolic acidosis was diagnosed in this patient after detection of acidotic respiration, (midriatic pupils, loss of light reflex and optic atrophy )- an indicative of optic nerve disease. Cranial MRI revealed mild atrophy and symmetrical hyperintensity in peritrigonal and lentiform nuclei in T2-weighted images. The patient had lactic acidemia and methyl malonic acidemia was detected with urinary organic acid screening. It was emphasized that methymalonic acidemia patients required to follow-up for optic nerve involvement. Key words: Methylmalonic Acidemia, Optic Nerve, Childhood.
Acute disseminated encephalomyelitis (ADEM) is an acute demyelinating infection of the CNS that i... more Acute disseminated encephalomyelitis (ADEM) is an acute demyelinating infection of the CNS that is characterized by multifocal white matter involvement often following an infection and vaccination. A 16-year-old child receiving risperidone for 7 years for the treatment of attention-deficit/hyperactivity disorder was hospitalized with complaints of double-vision during the past month and weakness on his right side, ataxia, and vomiting over the past 3 days. The child was diagnosed with ADEM after clinical, laboratory, and cranial MRI was conducted. Following an initial 3-day therapy with pulsed methylprednisolone, the child showed obvious clinical improvement. The treatment was continued with prednisolone and significant improvement was achieved. Enterovirus was detected in the results of the viral examination of the CSF. This child was found to be an interesting case having been diagnosed with ADEM associated with enteroviral infection, because of the rarity of few case reports in the literature.
Neuromyelitis optica is an inflammatory central nervous system syndrome associated with serum aqu... more Neuromyelitis optica is an inflammatory central nervous system syndrome associated with serum aquaporin-4 IgG antibody. Optic nerve and spinal cord involvement is typical. We report a 9-year-old girl with a diagnosis of neuromyelitis optica, who developed azathioprine-induced pancytopenia that was subsequently found to be caused by thiopurine-methyltransferase mutation.
Ketogenic diet (KD) remains a valuable treatment option for children with drug-resistant epilepsy... more Ketogenic diet (KD) remains a valuable treatment option for children with drug-resistant epilepsy. However, it may cause many well-known adverse effects such as dyslipidemia or kidney stones. But, its effects on thyroid functions are largely unknown. The aim of this study was to investigate the effects of the KD on thyroid functions in children with drug-resistant epilepsy. A total of 66 children (35 females) aged 3–193 months (median, 52 months) with drug-resistant epilepsy who received a KD for at least 12 months were enrolled in the study. All children were started on KD with 3:1 ratio which was then adjusted as clinically necessary. Serum free-thyroxine (FT4) and thyroid stimulating hormone (TSH) concentrations were measured before starting treatment and at the first, sixth and twelfth months of treatment. Changes in FT4 and TSH concentrations over 12 months were analyzed. Median serum FT4 and TSH concentrations, and the frequencies of patients with low FT4 and high TSH concentrations did not change significantly in the study sample over the 12-month study period. Serum FT4 levels increased significantly and TSH concentrations decreased insignificantly in four patients receiving L-thyroxine replacement therapy. During the 12-month treatment period, BMI-SDS increased, and the number of antiepileptic drugs decreased significantly. It appears that KD therapy does not impair thyroid functions in children with drug-resistant epilepsy. KD can be used safely along with L-thyroxine replacement even in children with pre-existing subclinical hypothyroidism.
Objective: The aim of our study determination of malnutrition risk and prevalence in patients who... more Objective: The aim of our study determination of malnutrition risk and prevalence in patients who were hospitalized in the pediatric neurology clinic. Methods: Two hundred patients were evaluated in this prospective study using STRONGkids tool and anthropometric measurements. Results: At the time of admission, it was found that 42 (21%) of the patients had malnutrition; 12 (6%) had chronic malnutrition, and 30 (15%) had acute malnutrition. Epilepsy was the most common diagnosis (44.5%). According to the STRONGkids, 55% of patients had a moderate or high risk. The mean length of hospitalization in high-risk patients was statistically significantly higher than other risk groups (p=0.022). Our study showed that patients at high risk of developing malnutrition in the pediatric neurology service can be identified with STRONGkids in a short time. Conclusion: Malnutrition is an important problem for patients hospitalized in pediatric neurology clinics. As a result we recommend applying the STRONGkids screening scale to patients to increase the awareness of healthcare professionals in determining the risk of malnutrition at the time of hospitalization in the pediatric neurology service.
21st International Congress of the World-Muscle-Society -- OCT 04-08, 2016 -- Granada, SPAINWOS: ... more 21st International Congress of the World-Muscle-Society -- OCT 04-08, 2016 -- Granada, SPAINWOS: 000384790100309World Muscle So
European Journal of Paediatric Neurology, May 1, 2008
Posters, Epilepsy diagnosis (EpiD) S31 in 5 children. They experienced partial seizures mainly wi... more Posters, Epilepsy diagnosis (EpiD) S31 in 5 children. They experienced partial seizures mainly with seconadary generalization. EEGs disclosed bilateral or focal spike-wave discharges. Stable seizure control (seizure frequency reduction of 50−75%) was achieved in 7 patients with one of the new AEDs started after the conventional antiepileptic treatment failed. Two patients achieved longterm seizure freedom. Intractable seizures occurred in 3 patients. Conclusions: Lissencephaly as a cortical malformation is associated with mainly unfavorable clinical course and poor outcome relating neurological and cognitive functions. Despite of diffuse nature of malformation, both focal seizures and EEG abnormalities are often seen.
Background. Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a very rare auto... more Background. Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a very rare autosomal recessive disorder caused by mutations in the immunoglobulin μ-binding protein-2 (IGHMBP2) gene on chromosome 11q13.2-q13.4. The initial symptoms of patients with SMARD1 are respiratory distress and distal muscle weakness manifesting in the infantile period due to progressive degeneration of α-motor neurons. Preterm birth, intrauterine growth retardation, feet deformities, sensory and autonomic neuropathy are other main features. Case. Herein, we report the characteristics of a 6-year-old Turkish girl with a diagnosis of SMARD1 confirmed by homozygous c.1738G>A (p.Val580Ile) missense IGHMBP2 variant. She had unusual features such as vocal cord paralysis, nystagmus, and lack of congenital foot deformities besides typical findings including hypotonia, respiratory distress, and diaphragmatic weakness in the early infantile period. Epileptic seizures, cognitive impairment, and brain magnetic resonance imaging (MRI) abnormalities were other, unexpected, features which developed during the course of the disorder possibly due to several hypoxic episodes. Conclusions. SMARD1 should be kept in mind in hypotonic infants with diaphragmatic weakness and respiratory failure during the early infantile period, even in the presence of unexpected findings including vocal cord paralysis, nystagmus, epileptic seizures, and brain MRI abnormalities.
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