A novel SCN1A mutation: A case report
Conclusion: Variant mutations of DS should be kept in mind and diagnostic genetic testing should be done in patients with neuromotor developmental retardation starting with afebrile seizures. In DS, hepatomegaly is not an expected condition. Maybe this new mutation might have caused hepatomegaly. (Source: Journal of Pediatric Neurosciences)
Source: Journal of Pediatric Neurosciences - June 29, 2020 Category: Neuroscience Authors: Mahmut Aslan Bilge Ozgor Serkan Kirik Serdal Gungor Source Type: research
Acute cerebral venous sinus thrombosis: A rare complication of primary varicella zoster virus infection
We report the case of a 17-years old adolescent male with left hemiparesis, cranial nerve palsies associated with primary Varicella infection. MRI revealed cerebral venous thrombosis involving right transverse sinus, sigmoid sinus, internal jugular vein and infarct involving right cerebral hemisphere, Midbrain and Pons. The patient responded well to Acyclovir, cerebral decongestants and oral anticoagulant therapy.CVT is a rare but the most life threatening complication following primary Varicella infection and early diagnosis is essential for proper management of the patient. (Source: Journal of Pediatric Neurosciences)
Source: Journal of Pediatric Neurosciences - June 29, 2020 Category: Neuroscience Authors: Champa Panwar Surinder Singh Neeraj Sharma Source Type: research
Infantile presentation of Lehman syndrome with multiple lateral meningoceles, dural ectasias, and herniation of conus: A rare case report
We present a case of a 5-month-old girl who presented with macrocephaly, developmental delay, and failure to thrive. A whole spine magnetic resonance imaging was carried out, which showed multiple bilateral well-defined cystic masses within the neural foramina involving the entire spine, predominantly the thoracolumbar regions, with neural foraminal widening and dural ectasia suggestive of multiple lateral meningoceles. (Source: Journal of Pediatric Neurosciences)
Source: Journal of Pediatric Neurosciences - June 29, 2020 Category: Neuroscience Authors: Mohan Amuthabarathi Kramadhari Harshith Krishnan Nagarajan Source Type: research
Facial dysmorphism, hirsutism, and failure to thrive as manifestation of Leigh syndrome in a child with SURF1 mutation
We report a case of 22-month-old female child presenting to us with severe failure to thrive, dysmorphic features, hirsutism, external ophthalmoplegia epilepsy, and neuroregression with characteristic findings of Leigh’s syndrome on neuroimaging and her muscle biopsy revealed evidence of mitochondrial respiratory chain defect involving complex IV and SURF1 mutation. (Source: Journal of Pediatric Neurosciences)
Source: Journal of Pediatric Neurosciences - June 29, 2020 Category: Neuroscience Authors: Dhinesh Baskaran Nahin Hussain Source Type: research
Multiple cerebral hemorrhages during the course of Guillain & #8211;Barre syndrome: A case report
In this report, we present a 3-year-old girl diagnosed with cortical and subcortical hemorrhage during the course of GBS who was treated with intravenous immunoglobulin. To the best of our knowledge, central nervous system hemorrhage during the course of GBS is an extremely rare condition. We believe that all clinicians following patients with GBS or using intravenous immunoglobulin for any indications should be aware of this rare but potentially life-threatening condition. (Source: Journal of Pediatric Neurosciences)
Source: Journal of Pediatric Neurosciences - June 29, 2020 Category: Neuroscience Authors: Sedat ISIKAY Akif SIRIKCI Source Type: research
Increased hemoglobin and plateletcrit levels indicating hemoconcentration in pediatric patients with migraine
Conclusion: This study suggests that migraine may be accompanied with hemoconcentration in children. (Source: Journal of Pediatric Neurosciences)
Source: Journal of Pediatric Neurosciences - June 29, 2020 Category: Neuroscience Authors: Sevim Sahin Betul Diler Durgut Beril Dilber Elif Acar Arslan Tulay Kamasak Ali Cansu Source Type: research
Clinico-radiological profile of children with pontocerebellar hypoplasia
Conclusion: A heightened index of suspicion for PCH is merited in infants with progressive psychomotor retardation and severe microcephaly. Cerebellar hypoplasia with pontine attenuation forms the mainstay of diagnosis of PCH (Source: Journal of Pediatric Neurosciences)
Source: Journal of Pediatric Neurosciences - June 29, 2020 Category: Neuroscience Authors: Ananthanarayanan Kasinathan Naveen Sankhyan Tessa Van Dijk Paramjeet Singh Pratibha Singhi Source Type: research
Facebook and WhatsApp in identifying current practices of neurological physiotherapy intervention in neonatal intensive care units: In Indian scenario
Conclusion: Less than 50% physiotherapy students performed neurological physiotherapy intervention in NICU. Therefore, more awareness needs to be created regarding neurological physiotherapy intervention performed in NICU. (Source: Journal of Pediatric Neurosciences)
Source: Journal of Pediatric Neurosciences - June 29, 2020 Category: Neuroscience Authors: Neha Sharma Krati Omar Navjyoti Gupta Asir John Samuel Source Type: research
Clinical features and molecular genetics of autosomal recessive ataxia in the Turkish population
Conclusion: The prevalence of hereditary ataxia can vary among countries. The consanguineous marriage is an important finding in these diseases. These genetic tests will increase the number of ARCA patients diagnosed. (Source: Journal of Pediatric Neurosciences)
Source: Journal of Pediatric Neurosciences - June 29, 2020 Category: Neuroscience Authors: Faruk Incecik Ozlem M Herguner Neslihan O Mungan Source Type: research
Effect of levetiracetam usage on serum creatine phosphokinase concentration in patients with epilepsy
Conclusion: We detected that LEV may cause increased CPK concentration or rhabdomyolysis. When treating patients with LEV, clinicians should closely monitor serum CPK level. To the best of our knowledge, this is the first study of elevated CPK concentration or rhabdomyolysis associated with LEV therapy in children. (Source: Journal of Pediatric Neurosciences)
Source: Journal of Pediatric Neurosciences - June 29, 2020 Category: Neuroscience Authors: Faruk Incecik Ozlem M Herguner Seyda Besen Source Type: research
Craniosynostosis: To study the spectrum and outcome of surgical intervention at a tertiary referral institute in India
Conclusion: The study highlights the importance of educating the masses so that cases of craniosynostosis present early. The incidence of Chiari malformation, intracranial hypertension, and perioperative complications was significantly higher in the syndromic craniosynostosis and oxycephaly groups than in single-suture craniosynostosis. The best surgical outcome and the least perioperative complications were seen in the trigonocephaly group. Compromised overall correction and reoperations were more common in the syndromic and complex craniosynostosis groups than in single-suture craniosynostosis. (Source: Journal of Pediatric Neurosciences)
Source: Journal of Pediatric Neurosciences - June 29, 2020 Category: Neuroscience Authors: Charandeep S Gandhoke Simran K Syal Ajay Sharma Arvind K Srivastava Daljit Singh Source Type: research
COVID-19. The missing link
Dattatraya MuzumdarJournal of Pediatric Neurosciences 2020 15(2):69-71 (Source: Journal of Pediatric Neurosciences)
Source: Journal of Pediatric Neurosciences - June 29, 2020 Category: Neuroscience Authors: Dattatraya Muzumdar Source Type: research
Coexistence of type 1 diabetes mellitus and periventricular heterotopia in a child: A case report
Faruk Incecik, Fatih GürbüzJournal of Pediatric Neurosciences 2020 15(1):67-68 (Source: Journal of Pediatric Neurosciences)
Source: Journal of Pediatric Neurosciences - March 18, 2020 Category: Neuroscience Authors: Faruk Incecik Fatih G & #252;rb & #252;z Source Type: research
Hereditary chin trembling
Sedat IsikayJournal of Pediatric Neurosciences 2020 15(1):66-66 (Source: Journal of Pediatric Neurosciences)
Source: Journal of Pediatric Neurosciences - March 18, 2020 Category: Neuroscience Authors: Sedat Isikay Source Type: research
Prevalence of unrecognized autism spectrum disorders in epilepsy: A clinic-based study
Mahmood D Al-MendalawiJournal of Pediatric Neurosciences 2020 15(1):65-65 (Source: Journal of Pediatric Neurosciences)
Source: Journal of Pediatric Neurosciences - March 18, 2020 Category: Neuroscience Authors: Mahmood D Al-Mendalawi Source Type: research
