Pınar Gençpınar | Izmir Katip Celebi (original) (raw)

Papers by Pınar Gençpınar

Neurophysiology, Apr 12, 2024

İzmir tepecik eğitim hastanesi dergisi, Apr 11, 2022

Nörofibromatozis, çocukluk çağı fakomotozlarından olup 2 tipi tanımlanmıştır. İlk olarak 1820 yıl... more Nörofibromatozis, çocukluk çağı fakomotozlarından olup 2 tipi tanımlanmıştır. İlk olarak 1820 yılında JH Wishart tarafından tanımlanmış olan nörofibromatozis tip 2 (NF2) çocukluk çağında oldukça nadirdir ve sıklığı 25.000 canlı doğumda birdir (1,2). Otozomal dominant geçiş gösterir ve olguların yarısında spontan mutasyon saptanır (3,4). Hastalığın oluşumundan 22. kromozomdaki Merlin adı verilen tümör supresör gendeki mutasyon sorumludur. NF2 tümör yatkınlığı oluşturması açısından önemlidir (5). Katarakt, çocukluk çağında tanı anında en sık saptanan bulgudur (6). NF2, nörokutan bir sendrom olmasına rağmen deri bulguları ön planda değildir. Tanı için; bilateral vestibular Schwannoma

Turkish journal of emergency medicine, 2015

Journal of Pediatric Neurosciences, 2021

Journal of Pediatric Epilepsy, Jul 28, 2023

Self-limited familial neonatal epilepsy is an autosomal dominant epileptic syndrome characterized... more Self-limited familial neonatal epilepsy is an autosomal dominant epileptic syndrome characterized by episodes of seizures occurring in the first days of life. Most patients have heterozygous mutations of KCNQ2 gene located on 20q13. A variety of clinical phenotypes have been associated with KCNQ2 mutations, making the prediction of this rare entity difficult. Herein, we report a rare KCNQ2 variant in two siblings with self-limited familial neonatal epilepsy. The siblings had tonic seizures accompanied by clonic jerks in the first few days after birth. Genetic analysis of the siblings revealed a heterozygous KCNQ2 variant: c.1589G > A; (p.Ser530Asn). The identical variant subsequently was identified in the mother. To our knowledge, this variant has not been previously reported in individuals with KCNQ2-related disease. This is the first report that reveals c.1589G > A variant of KCNQ2 gene as a pathogenic variant in two siblings.

Journal of Pediatric Neurosciences, 2023

Pediatric Rheumatology, Dec 1, 2013

Clinical Pediatrics, Jan 23, 2023

We aimed to identify nonconvulsive seizures (NCS) and nonconvulsive status epilepticus (NCSE) in ... more We aimed to identify nonconvulsive seizures (NCS) and nonconvulsive status epilepticus (NCSE) in a pediatric intensive care unit (PICU). A prospective cohort study on 35 patients who underwent continuous electroencephalographic monitoring in the PICU was done. The patients were evaluated to collect data of their demographics, clinical diagnoses, clinical seizures by electroencephalography, and neuroimaging findings. One case with NCSE and 4 cases with NCS were diagnosed among the 35 patients. The etiology of the patient with NCSE showed antiepileptic drug (AED) withdrawal. The etiology of the patients with NCS included electrical injury, head trauma, subarachnoid hemorrhage, and pneumonia. The findings suggest that younger age, epilepsy, acute structural brain abnormalities, abrupt cessation of AED, and clinically overt seizures before NCSE/NCS are associated with significant risk for NCS/NCSE. In addition, the electrical injury may also be considered as a risk factor for electrographic seizure though such a case has not yet been reported.

Neurology India, 2021

The chromosome 22q11.2 region is highly susceptible to both microdeletions and microduplications ... more The chromosome 22q11.2 region is highly susceptible to both microdeletions and microduplications that have been known to be responsible for multiple congenital anomaly disorders. We describe a patient of 22q11.2 duplication syndrome presenting with bilateral ptosis who has normal psychomotor development. Cranial magnetic resonance imaging and electromyography with repetitive nerve stimulation were normal. Chromosome microarray analysis was performed, and the patient was found to have a de novo 2.8 Mb duplication at 22q11.21. To our knowledge, bilateral ptosis and normal psychomotor development with 22q11.2 duplication syndrome has not been described. The 22q11.2 duplication syndrome should be considered in the differential diagnosis of ptosis. This case report contributes to an expanding clinical spectrum of patients with 22q11.2 duplication syndrome.

Turkish journal of emergency medicine, Dec 1, 2015

Foreign body aspiration in children under four years old is one of the most frequently observed r... more Foreign body aspiration in children under four years old is one of the most frequently observed reasons for accident related deaths. It is more common in this age group due to inadequate swallowing functions and exploration of objects with the mouth. The most frequently encountered foreign bodies are food and toy parts. Life threatening complete laryngeal obstruction is rarely observed. Dyspnea, hypersalivation, cough and cyanosis can be seen. The basic and life-saving treatment approach is complete removal of foreign body maneuvers in the sudden onset of total obstruction. Here we report a six-month old male, who ingested a foreign body and was treated with back blow maneuvers successfully. In this case we emphasized the importance of back blow maneuvers.

Neurology International, Apr 1, 2016

Central neurogenic hyperventilation (CNH) is a rare clinical condition, whose mechanism is still ... more Central neurogenic hyperventilation (CNH) is a rare clinical condition, whose mechanism is still unclear. Here, we report a 3-year-old male patient, who had bilateral thalamic, putaminal and globus pallideal infarction resulted in CNH without brainstem involvement. This case may illustrate a possible role for the thalamus in regulating ventilation.

PubMed, May 23, 2013

The hyperimmunoglobulinemia D syndrome (HIDS), so-called mevalonate kinase deficiency, is caused ... more The hyperimmunoglobulinemia D syndrome (HIDS), so-called mevalonate kinase deficiency, is caused by recessive mutations in the gene encoding mevalonate kinase enzyme. HIDS is characterized by recurrent fever attacks of 3-7 days that begin in infancy and recur every 4-6 weeks. The febrile period is accompanied by lymphadenopathy, arthralgia, abdominal pain, diarrhea, aphthous ulcers, and varying degree of skin involvement. The course and severity of the disease may be quite different. There is no effective or proven therapy for HIDS. We report two cases with HIDS, which had separate clinical findings and treatment strategies.

Seizure-european Journal of Epilepsy, Aug 1, 2020

PURPOSE This study aims to compare the neurocognitive outcome in term infants who were treated us... more PURPOSE This study aims to compare the neurocognitive outcome in term infants who were treated using phenobarbital (PB) and levetiracetam (LEV) monotherapy for neonatal clinical seizures. METHODS Term infants who were treated using PB or LEV monotherapy as the first-line anti-epileptic treatment for neonatal clinical seizures and followed-up in a pediatric neurology outpatient clinic were enrolled in this study. Neurodevelopmental outcome assessments were carried out using the Bayley Scales of Infant Development, third edition (BSID-III), including cognitive, receptive language, expressive language, fine motor and gross motor subscales. RESULTS The study group consisted of 62 infants who received monotherapy with PB monotherapy (n = 22) and LEV (n = 40). The mean duration of monotherapy treatment was 8 ± 6 months. There was no statistically significant difference between PB and LEV monotherapy groups concerning each outcome parameter on the BSID-III. There was also no statistically significant difference between PB and LEV monotherapy subgroups excluding the infants with neurodevelopmental impairment with a BSID-III scale score<7 or a composite score<85. CONCLUSION Our findings suggest that both LEV and PB therapy can be equally safe as monotherapy for neonatal clinical seizures for the neurodevelopmental outcome assessment with BSID-III.

Journal of Pediatric Research, Sep 5, 2014

Neurocase, Mar 4, 2019

The CDKL5 disorder is characterized by early onset epilepsy, stereotypical hand movement, absent ... more The CDKL5 disorder is characterized by early onset epilepsy, stereotypical hand movement, absent speech and severe hypotonia. Herein, we report epileptic encephalopathy with continuous spike-andwave during sleep (CSWS) in apatient with CDKL5 disorder. She admitted with complaints of frequently recurring generalized tonic and myoclonic seizures. The diagnoses were confirmed by de novo CDKL5 mutation, c.197_198delCT (p.L67QfsX23). Interictal EEG revealed generalized spike and slow-wave activity, occurring intermittently in wakefulness but present for at least 85% of non-REM sleep, consistent with the diagnosis of CSWS. To our knowledge, this is the first report of CSWS associated with CDKL5 disorder.

Neuropediatrics, May 21, 2018

Congenital myasthenic syndromes (CMS) are neuromuscular transmission disorders caused by mutation... more Congenital myasthenic syndromes (CMS) are neuromuscular transmission disorders caused by mutations in genes encoding neuromuscular junction proteins. CMS due to choline acetyltransferase (CHAT) gene is characterized by episodic apnea. We report a case of a 12-month-old female patient presented with recurrent episodic apnea carrying a mutation in CHAT gene, p.I336T. Furthermore, we describe the genetic and clinical findings in 44 CMS patients due to CHAT mutations in the literature up to date. Episodes of apnea and respiratory insufficiency are the hallmarks of CHAT mutations. Clinical manifestations usually provoked by infections and fever. CMS due to CHAT mutations are rare, but it is important to diagnosis. Early diagnosis and appropriate treatment can improve morbidity and mortality.

European Journal of Medical Genetics, Apr 1, 2015

Chanarin-Dorfman syndrome is an autosomal recessive lipid storage disease characterized by non-bu... more Chanarin-Dorfman syndrome is an autosomal recessive lipid storage disease characterized by non-bullous congenital ichthyosiform erythroderma, and involvement of the liver, muscles and central nervous system due to a multisystemic accumulation of neutral lipids in various types of cells. Less than 100 affected individuals have been reported worldwide, the majority from the Mediterranean and Middle-East countries, especially Turkey. We present clinical and molecular data of four affected relatives with Chanarin-Dorfman syndrome homozygous for a N209X mutation in ABHD5, and provide a short review by comparing patients with N209X homozygous mutations to patients with other ABHD5 mutations. No major clinical differences exist between individuals with an N209X mutation and those with other mutations, which argues against a genotype/phenotype correlation.

International journal of healthcare management, Oct 25, 2022