şiar Dursun - Academia.edu (original) (raw)

Papers by şiar Dursun

Research paper thumbnail of Cystic Encephalomalacia and Infantile Spasm as a Complication of Transient and Mild Hyperinsulinemic Hypoglycemia

The Journal of Pediatric Research, 2016

ABS TRACT Öz Hipogliseminin beyin gelişimi üzerine olan olumsuz etkileri ve infantil spazma neden... more ABS TRACT Öz Hipogliseminin beyin gelişimi üzerine olan olumsuz etkileri ve infantil spazma neden olabileceği iyi bilinmekle birlikte, kısa sürede ve spontan olarak iyileşen hiperinsülinemik hipogliseminin infantil spazma neden olabileceği bildirilmemiştir. İnfantil spazm genellikle yaşamın ilk yılında ortaya çıkan, gövde, boyun ve bacak kaslarının ani, kısa süreli ve genellikle bilateral simetrik motor spazmları olarak tanımlanır. En sık görülen formu olan semptomatik infantil spazm prenatal, perinatal ve postnatal olayalara bağlı ortaya çıkar. Zamanında 3140 gram olarak doğan bebek postnatal ikinci gününde zayıf emme ve beslenme güçlüğü yakınmaları ile getirildi. Hiperinsülinemik hipoglisemi tanısı konan ve intravenöz glukoz infüzyonuna (15 mg/kg/dk) rağmen hipogisemisi devam eden olguya diazoksit başlandı. Bu tedavi ile hipoglisemisi gözlenmeyen olgunun diazoksit dozu kademeli olarak azaltılarak 21. günde kesildi. İzlemde sürekli normoglisemik olan bebek 45. günde fleksör spazmlar nedeni ile başvurdu. Elektroensefalografide modifiye hipsartimi paterni saptandı. Kraniyal manyetik rezonans görüntülemede temperopariyetal beyaz ve gri cevherde kistik ensefalomalazik alanlar gözlendi. Adrenokortikotropik hormon ve vigabatrin tedavileri ile nöbetleri kontrol altına alınamayan olguda topiramat ve valproat tedavilerinden kısmi fayda görüldü. Anahtar Kelimeler: İnfantil spazm, geçici hipoglisemi, hiperinsülinemi Although it is known that hypoglycemia could cause severe negative effects on brain development and also infantile spasm, it has not been reported that transient hyperinsulinemic hypoglycemia, which spontaneously improves over a short time, may cause infantile spasms. Infantile spasm is a disorder of early childhood typically seen in the first year of life, characterized by the occurence of sudden, brief, generally bilateral and symetric motor spasms of the muscles of the trunk, neck and limbs. Infantile spasms are classified as idiopathic or symptomatic. The most common form symptomatic infantile spasms is due to prenatal, perinatal or postnatal insults. A 3140 g, full-term baby was admitted with poor sucking and feeding difficulty on the postnatal second day. The patient was followed-up with the diagnosis of hyperinsulinemic hypoglycemia and intravenous glucose infusion (15 mg/kg/min) was administered, but due to the persistence of hypoglycemia, diazoxide treatment was initiated. Hypoglycemia was not observed under diazoxide treatment and the drug was gradually decreased; treatment was terminated on the 21 st day. The patient was continuously normoglycemic during follow-up and admitted with flexor spasms on the 45 th day. A modified hypsarrhythmia pattern was detected in the electroencephalography. On cranial magnetic resonance imaging, diffuse cystic encephalomalacia areas were observed in the temporoparietal white and gray matter. The convulsions were not completely controlled with adrenocorticotropic hormone and vigabatrin treatments. Topiramate and valproate were administered, by which convulsions were partially controlled.

Research paper thumbnail of An Uncommon Cause of Duane Syndrome in a Child: Wildervanck Syndrome

The Journal of Pediatric Research, 2016

Research paper thumbnail of Hydropic gallbladder in a child due to hepatitis A infection

Marmara Medical Journal, 2016

Research paper thumbnail of A Case of Ehlers-Danlos Syndrome Type VIA With a Novel PLOD1 Gene Mutation

Pediatric Neurology, 2014

BACKGROUND: The kyphoscoliotic type of the Ehlers-Danlos syndrome is an autosomal recessive conne... more BACKGROUND: The kyphoscoliotic type of the Ehlers-Danlos syndrome is an autosomal recessive connective tissue disorder characterized by soft extensible skin, laxity of joints, severe muscle hypotonia at birth, and kyphoscoliosis. PATIENT: We describe a 3-year-old girl with the kyphoscoliotic type of the Ehlers-Danlos syndrome whose parents were cousins. She was born with breech presentation by vaginal delivery at term after a normal pregnancy. At birth she manifested hypotonia and congenital kyphosis. On the second postnatal day, subdural and intraparenchymal hemorrhages were detected by magnetic resonance imaging. During follow-up at 18 months of age, strabismus, umbilical hernia, kyphoscoliosis, joint laxity, bilateral hip dislocation, muscular hypotonia, and motor developmental delay. RESULTS: The cranial magnetic resonance imaging revealed periventricular leukomalacia and abnormal signal related to previous hemorrhage. Metabolic investigations and neuromuscular evaluation were normal, excluding other possible explanations of hypotonia. An analysis of urinary cross-links demonstrated an increase in the lysyl-pyridinoline to hydroxylysyl-pyridinoline ratio, suggesting the diagnosis of kyphoscoliotic type of the Ehlers-Danlos syndrome. Molecular analysis of the PLOD1 gene revealed that she had a novel homozygous p.Pro622Argfs*3 (c. 1863_1864dupCG) mutation in exon 17 that is expected to cause complete loss of the enzyme lysyl hydroxylase 1 and to cause kyphoscoliotic type of the Ehlers-Danlos syndrome. CONCLUSIONS: We describe a child with the kyphoscoliotic type of the Ehlers-Danlos syndrome with a novel mutation of the PLOD1 gene. Our observations suggest that vascular lesions in the neonatal period may be a rare additional clinical feature of kyphoscoliotic type of the Ehlers-Danlos syndrome.

Research paper thumbnail of Acute Motor-Sensory Axonal Neuropathy With Hyperreflexia in Guillain-Barre Syndrome

Journal of Child Neurology, 2014

Guillain-Barré syndrome (GBS) is an acute monophasic immune-mediated polyradiculoneuropathy. Here... more Guillain-Barré syndrome (GBS) is an acute monophasic immune-mediated polyradiculoneuropathy. Here, we report a case of a young man with acute motor axonal neuropathy (AMAN) subtype of GBS having hepatitis A virus (HAV) infection. A 30-year-old man with icterus was referred to emergency center of Razi Hospital. He complained of flu-like symptoms 10 days before the onset of icterus. Also, he suffered from gradual fatigue and weakness with dark urine. He experienced neurological symptoms of muscle paralysis (ascending from the legs to hands). Neurological consultant suspected GBS at the first step based on clinical examinations. He was candidate for five sessions of plasmapheresis. The ultrasonography revealed liver span 166 mm, which was greater than the normal range, with normal parenchymal echo. The gallbladder wall was thicker than normal and gallstone with lesion was not seen in different conditions. He was discharged after total improvement of neurological symptoms and muscular power. In addition, the results of International normalized ratio (INR), partial thromboplastin time (PTT), prothrombin time (PT), alkaline phosphatase (ALK), alanine aminotransferase (ALT) , aspartate aminotransferase (AST), bilirubin total and direct (Bil T, D) tests were normal after 2-month follow-up. Although, acute viral infections such as hepatitis E virus (HEV) is common in patients with GBS; the possibility of HAV infection in patients with its risk factor should not be neglected.

Research paper thumbnail of Single gene, two diseases, and multiple clinical presentations: Biotin–thiamine-responsive basal ganglia disease

Brain and Development, 2020

AIM To present seven new genetically confirmed cases of biotin-thiamin-responsive basal ganglia d... more AIM To present seven new genetically confirmed cases of biotin-thiamin-responsive basal ganglia disease (BTBGD) with different clinical and brain magnetic resonance imaging (MRI) characteristics. MATERIAL AND METHODS Genetic variants, clinical presentations, brain MRI findings, treatment response, and prognosis of seven selected patients with BTBGD, diagnosed with SLC19A3 mutations were described. RESULTS Among seven patients diagnosed with BTBGD, two had early infantile form, four had classic childhood form, and one was asymptomatic. Four different homozygous variants were found in the SLC19A3. Two patients with early infantile form presented with encephalopathy, dystonia, and refractory seizure in the neonatal period and have different variants. Their MRI findings were similar and pathognomonic for the early infantile form. Three siblings had same variants: one presented seizure and encephalopathy at the age of 4 months, one presented seizure at 14 years, and another was asymptomatic at 20 years. Only one of them had normal MRI findings, and the others MRI findings were similar and suggestive of the classic form. Other two siblings; one of them presented with developmental delay, seizure, and dystonia at 18 months and the other presented with subacute encephalopathy and ataxia at 20 months. Their MRI findings were also similar and suggestive of the classic form. CONCLUSION BTBGD may present with dissimilar clinical characteristics or remain asymptomatic for a long time period even in a family or patients with same variants. Brain MRI patterns may be important for the early diagnosis of BTBGD that would save children's lives.

Research paper thumbnail of Cystic Encephalomalacia and Infantile Spasm as a Complication of Transient and Mild Hyperinsulinemic Hypoglycemia

The Journal of Pediatric Research, 2016

ABS TRACT Öz Hipogliseminin beyin gelişimi üzerine olan olumsuz etkileri ve infantil spazma neden... more ABS TRACT Öz Hipogliseminin beyin gelişimi üzerine olan olumsuz etkileri ve infantil spazma neden olabileceği iyi bilinmekle birlikte, kısa sürede ve spontan olarak iyileşen hiperinsülinemik hipogliseminin infantil spazma neden olabileceği bildirilmemiştir. İnfantil spazm genellikle yaşamın ilk yılında ortaya çıkan, gövde, boyun ve bacak kaslarının ani, kısa süreli ve genellikle bilateral simetrik motor spazmları olarak tanımlanır. En sık görülen formu olan semptomatik infantil spazm prenatal, perinatal ve postnatal olayalara bağlı ortaya çıkar. Zamanında 3140 gram olarak doğan bebek postnatal ikinci gününde zayıf emme ve beslenme güçlüğü yakınmaları ile getirildi. Hiperinsülinemik hipoglisemi tanısı konan ve intravenöz glukoz infüzyonuna (15 mg/kg/dk) rağmen hipogisemisi devam eden olguya diazoksit başlandı. Bu tedavi ile hipoglisemisi gözlenmeyen olgunun diazoksit dozu kademeli olarak azaltılarak 21. günde kesildi. İzlemde sürekli normoglisemik olan bebek 45. günde fleksör spazmlar nedeni ile başvurdu. Elektroensefalografide modifiye hipsartimi paterni saptandı. Kraniyal manyetik rezonans görüntülemede temperopariyetal beyaz ve gri cevherde kistik ensefalomalazik alanlar gözlendi. Adrenokortikotropik hormon ve vigabatrin tedavileri ile nöbetleri kontrol altına alınamayan olguda topiramat ve valproat tedavilerinden kısmi fayda görüldü. Anahtar Kelimeler: İnfantil spazm, geçici hipoglisemi, hiperinsülinemi Although it is known that hypoglycemia could cause severe negative effects on brain development and also infantile spasm, it has not been reported that transient hyperinsulinemic hypoglycemia, which spontaneously improves over a short time, may cause infantile spasms. Infantile spasm is a disorder of early childhood typically seen in the first year of life, characterized by the occurence of sudden, brief, generally bilateral and symetric motor spasms of the muscles of the trunk, neck and limbs. Infantile spasms are classified as idiopathic or symptomatic. The most common form symptomatic infantile spasms is due to prenatal, perinatal or postnatal insults. A 3140 g, full-term baby was admitted with poor sucking and feeding difficulty on the postnatal second day. The patient was followed-up with the diagnosis of hyperinsulinemic hypoglycemia and intravenous glucose infusion (15 mg/kg/min) was administered, but due to the persistence of hypoglycemia, diazoxide treatment was initiated. Hypoglycemia was not observed under diazoxide treatment and the drug was gradually decreased; treatment was terminated on the 21 st day. The patient was continuously normoglycemic during follow-up and admitted with flexor spasms on the 45 th day. A modified hypsarrhythmia pattern was detected in the electroencephalography. On cranial magnetic resonance imaging, diffuse cystic encephalomalacia areas were observed in the temporoparietal white and gray matter. The convulsions were not completely controlled with adrenocorticotropic hormone and vigabatrin treatments. Topiramate and valproate were administered, by which convulsions were partially controlled.

Research paper thumbnail of An Uncommon Cause of Duane Syndrome in a Child: Wildervanck Syndrome

The Journal of Pediatric Research, 2016

Research paper thumbnail of Hydropic gallbladder in a child due to hepatitis A infection

Marmara Medical Journal, 2016

Research paper thumbnail of A Case of Ehlers-Danlos Syndrome Type VIA With a Novel PLOD1 Gene Mutation

Pediatric Neurology, 2014

BACKGROUND: The kyphoscoliotic type of the Ehlers-Danlos syndrome is an autosomal recessive conne... more BACKGROUND: The kyphoscoliotic type of the Ehlers-Danlos syndrome is an autosomal recessive connective tissue disorder characterized by soft extensible skin, laxity of joints, severe muscle hypotonia at birth, and kyphoscoliosis. PATIENT: We describe a 3-year-old girl with the kyphoscoliotic type of the Ehlers-Danlos syndrome whose parents were cousins. She was born with breech presentation by vaginal delivery at term after a normal pregnancy. At birth she manifested hypotonia and congenital kyphosis. On the second postnatal day, subdural and intraparenchymal hemorrhages were detected by magnetic resonance imaging. During follow-up at 18 months of age, strabismus, umbilical hernia, kyphoscoliosis, joint laxity, bilateral hip dislocation, muscular hypotonia, and motor developmental delay. RESULTS: The cranial magnetic resonance imaging revealed periventricular leukomalacia and abnormal signal related to previous hemorrhage. Metabolic investigations and neuromuscular evaluation were normal, excluding other possible explanations of hypotonia. An analysis of urinary cross-links demonstrated an increase in the lysyl-pyridinoline to hydroxylysyl-pyridinoline ratio, suggesting the diagnosis of kyphoscoliotic type of the Ehlers-Danlos syndrome. Molecular analysis of the PLOD1 gene revealed that she had a novel homozygous p.Pro622Argfs*3 (c. 1863_1864dupCG) mutation in exon 17 that is expected to cause complete loss of the enzyme lysyl hydroxylase 1 and to cause kyphoscoliotic type of the Ehlers-Danlos syndrome. CONCLUSIONS: We describe a child with the kyphoscoliotic type of the Ehlers-Danlos syndrome with a novel mutation of the PLOD1 gene. Our observations suggest that vascular lesions in the neonatal period may be a rare additional clinical feature of kyphoscoliotic type of the Ehlers-Danlos syndrome.

Research paper thumbnail of Acute Motor-Sensory Axonal Neuropathy With Hyperreflexia in Guillain-Barre Syndrome

Journal of Child Neurology, 2014

Guillain-Barré syndrome (GBS) is an acute monophasic immune-mediated polyradiculoneuropathy. Here... more Guillain-Barré syndrome (GBS) is an acute monophasic immune-mediated polyradiculoneuropathy. Here, we report a case of a young man with acute motor axonal neuropathy (AMAN) subtype of GBS having hepatitis A virus (HAV) infection. A 30-year-old man with icterus was referred to emergency center of Razi Hospital. He complained of flu-like symptoms 10 days before the onset of icterus. Also, he suffered from gradual fatigue and weakness with dark urine. He experienced neurological symptoms of muscle paralysis (ascending from the legs to hands). Neurological consultant suspected GBS at the first step based on clinical examinations. He was candidate for five sessions of plasmapheresis. The ultrasonography revealed liver span 166 mm, which was greater than the normal range, with normal parenchymal echo. The gallbladder wall was thicker than normal and gallstone with lesion was not seen in different conditions. He was discharged after total improvement of neurological symptoms and muscular power. In addition, the results of International normalized ratio (INR), partial thromboplastin time (PTT), prothrombin time (PT), alkaline phosphatase (ALK), alanine aminotransferase (ALT) , aspartate aminotransferase (AST), bilirubin total and direct (Bil T, D) tests were normal after 2-month follow-up. Although, acute viral infections such as hepatitis E virus (HEV) is common in patients with GBS; the possibility of HAV infection in patients with its risk factor should not be neglected.

Research paper thumbnail of Single gene, two diseases, and multiple clinical presentations: Biotin–thiamine-responsive basal ganglia disease

Brain and Development, 2020

AIM To present seven new genetically confirmed cases of biotin-thiamin-responsive basal ganglia d... more AIM To present seven new genetically confirmed cases of biotin-thiamin-responsive basal ganglia disease (BTBGD) with different clinical and brain magnetic resonance imaging (MRI) characteristics. MATERIAL AND METHODS Genetic variants, clinical presentations, brain MRI findings, treatment response, and prognosis of seven selected patients with BTBGD, diagnosed with SLC19A3 mutations were described. RESULTS Among seven patients diagnosed with BTBGD, two had early infantile form, four had classic childhood form, and one was asymptomatic. Four different homozygous variants were found in the SLC19A3. Two patients with early infantile form presented with encephalopathy, dystonia, and refractory seizure in the neonatal period and have different variants. Their MRI findings were similar and pathognomonic for the early infantile form. Three siblings had same variants: one presented seizure and encephalopathy at the age of 4 months, one presented seizure at 14 years, and another was asymptomatic at 20 years. Only one of them had normal MRI findings, and the others MRI findings were similar and suggestive of the classic form. Other two siblings; one of them presented with developmental delay, seizure, and dystonia at 18 months and the other presented with subacute encephalopathy and ataxia at 20 months. Their MRI findings were also similar and suggestive of the classic form. CONCLUSION BTBGD may present with dissimilar clinical characteristics or remain asymptomatic for a long time period even in a family or patients with same variants. Brain MRI patterns may be important for the early diagnosis of BTBGD that would save children's lives.