Delayed diagnosis of cobalamin E defect in an adolescent patient
We report an adolescent patient with cobalamin E (CblE) defect presenting with megaloblastic anemia, mental retardation, cerebral atrophy, cortical visual impairment, white matter changes on brain magnetic resonance imaging, and hyperhomocysteinemia. Homozygous mutation at the c.245C>T in exon 3 of the MTRR gene was identified, which had been found to be related to CblE defect. He was treated with betaine, folic acid, vitamin B6, riboflavin, hydroxycobalamin (OH-B12), and carnitine. During treatment, homocysteine levels decreased over time. (Source: Journal of Pediatric Neurosciences)
Source: Journal of Pediatric Neurosciences - June 29, 2020 Category: Neuroscience Authors: Merve Koc Yekeduz Elif Unal Ince Talia Ileri Mehmet Ertem Fatma Tuba Eminoglu Source Type: research
Split cord malformation type 2 with double dorsal lipoma: A sequela or a chance
Mohamed A Jamaluddin, Prakash Nair, Ganesh Divakar, Jaypalsinh A Gohil, Mathew AbrahamJournal of Pediatric Neurosciences 2020 15(2):135-139An 11-month-old baby girl, with normal perinatal history, presented with a congenital lumbosacral swelling and a sacral dimple. Imaging revealed a split cord malformation (SCM) type 2 at L1–L3 with a lipomeningocoele extending intradurally and tethering both the hemicords, the conus was noted to be at L4. She underwent excision of the lipoma and detethering of the hemicords. Intraoperatively, the split cord was seen from L1 to L3 with an aberrant median vessel passing betwe...
Source: Journal of Pediatric Neurosciences - June 29, 2020 Category: Neuroscience Authors: Mohamed A Jamaluddin Prakash Nair Ganesh Divakar Jaypalsinh A Gohil Mathew Abraham Source Type: research
Primary hypokalemic periodic paralysis: Long-term management and complications in a child
Indar K Sharawat, Renu Suthar, Naveen Sankhyan, Pratibha SinghiJournal of Pediatric Neurosciences 2020 15(2):132-134Hypokalemic periodic paralysis (HPP) is a rare genetically determined neuromuscular disorder caused by mutation in skeletal muscles calcium and sodium channels. It presents with recurrent episodes of flaccid paralysis. A 9-year-old girl presented with recurrent episodic flaccid quadriparesis with complete recovery in-between the episodes. Investigations during the acute episode revealed marked hypokalemia with electrocardiogram changes. Next-generation sequencing showed pathogenic missense mutation in CACNA1S...
Source: Journal of Pediatric Neurosciences - June 29, 2020 Category: Neuroscience Authors: Indar K Sharawat Renu Suthar Naveen Sankhyan Pratibha Singhi Source Type: research
Moebius syndrome: A rare entity or a missed diagnosis ?
Sreetama Chowdhury, Shatanik Sarkar, Debasree Guha, Malay K DasguptaJournal of Pediatric Neurosciences 2020 15(2):128-131Moebius syndrome is a rare congenital neurological disease, nonprogressive in nature, characterized by weakness or palsy of multiple cranial nerves, most often the sixth and seventh cranial nerves. Third and twelfth cranial nerves are also frequently involved. Infants presenting with similar presentation are often misdiagnosed because the facial palsy is commonly attributed to other causes such as birth trauma. Here, we present a 6-week-old infant presenting with poor weight gain and feeding problem, ult...
Source: Journal of Pediatric Neurosciences - June 29, 2020 Category: Neuroscience Authors: Sreetama Chowdhury Shatanik Sarkar Debasree Guha Malay K Dasgupta Source Type: research
Intracranial rhabdomyosarcoma of the cerebellopontine angle in a 6-year-old child: A case report
Mohammad Sadegh Masoudi, Saber Zafarshamspour, Mohammad Ghasemi-Rad, Neda Soleimani, Christie LincolnJournal of Pediatric Neurosciences 2020 15(2):124-127Rhabdomyosarcoma (RMS) is the most common soft-tissue malignancy in children under 15 years of age. Approximately, 35% of RMS cases originate from the head and neck region. Among various sites in the head and neck region, intracranial extension is more likely to occur with parameningeal tumors, which is also considered an unfavorable prognostic factor in children with RMS. About 20% of RMS occurs in a parameningeal site. Intracranial RMS are rare tumors that...
Source: Journal of Pediatric Neurosciences - June 29, 2020 Category: Neuroscience Authors: Mohammad Sadegh Masoudi Saber Zafarshamspour Mohammad Ghasemi-Rad Neda Soleimani Christie Lincoln Source Type: research
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
