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   Table of Contents - Current issue
April-June 2020
Volume 15 | Issue 2
Page Nos. 69-167

Online since Tuesday, June 30, 2020

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COVID-19. The missing link Highly accessed article p. 69
Dattatraya Muzumdar
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Craniosynostosis: To study the spectrum and outcome of surgical intervention at a tertiary referral institute in India Highly accessed article p. 72
Charandeep S Gandhoke, Simran K Syal, Ajay Sharma, Arvind K Srivastava, Daljit Singh
Aims and Objectives: This study aimed to analyze the spectrum and surgical outcome of cases of craniosynostosis operated at a tertiary referral institute in IndiaDesign: This was a cross-sectional study. Materials and Methods: We retrospectively examined 60 cases of craniosynostosis operated at our institute from 2008 to 2014 (with a minimum follow-up of 2 years). Data was collected including name, age, gender, involved sutures, other medical conditions, whether syndromic craniosynostosis or not, whether symptoms and signs of intracranial hypertension were present or not, associated findings on magnetic resonance imaging of brain and cervico-medullary junction, type of surgery performed, age at which surgery was performed, perioperative complications (if any), and findings on follow-up. To be able to analyze the surgical results, we used the seven category classification system used by Sloan et al.Results: Craniosynostosis affected more men than women. The incidence of syndromic craniosynostosis was 11.67%. Mean age at first surgery was 3.85 years. Chiari malformation was present in 80% of the Crouzon’s syndrome cases, 62.5% of the oxycephaly cases, and 4.44% of the non-syndromic, non-oxycephaly cases. Intracranial hypertension was present in 80% of the Crouzon’s syndrome cases, 75% of the oxycephaly cases, and 6.67% of the non-syndromic, non-oxycephaly cases. Perioperative complications were present in 42.86% of the syndromic craniosynostosis cases, 50% of the oxycephaly cases, and 15.56% of the non-syndromic, non-oxycephaly cases. Compromised overall correction was present in 4 of 7 cases of syndromic craniosynostosis, 3 of 8 cases of oxycephaly, and 2 of 45 cases of non-syndromic, non-oxycephaly group. 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.
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Effect of levetiracetam usage on serum creatine phosphokinase concentration in patients with epilepsy Highly accessed article p. 81
Faruk Incecik, Ozlem M Herguner, Seyda Besen
Background: Levetiracetam (LEV) is a widely used antiepileptic drug (AED) in the treatment of various type of seizures, including generalized epileptic seizure as well as focal seizures, and it is generally well tolerated. Common side effects of LEV are somnolence, asthenia, dizziness, mood changes, kidney dysfunction, minor infections, and thrombocytopenia. Recently, increased creatine phosphokinase (CPK) concentration or rhabdomyolysis after LEV administration has been reported. The goal of the study was to evaluate clinical risk factors associated with increased CPK concentration or rhabdomyolysis in LEV administration. Materials and Methods: One hundred and sixty children were enrolled. The risk factors were retrospectively analyzed. Results: Among the 160 patients, 84 (52.5%) were boys and 76 (47.5%) were girls, and the mean age was 85.95 ± 49.03 months (9–188 months). Of the 160 patients, 66 (41.3%) were treated with monotherapy, and 94 (58.8%) with polytherapy. We detected increased CPK concentration or rhabdomyolysis in three patients (1.9%). The CPK values of these three patients were 943, 1504, and 5046, respectively. No significant differences were observed in the serum CPK concentration between the patients treated with LEV. 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.
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Clinical features and molecular genetics of autosomal recessive ataxia in the Turkish population p. 86
Faruk Incecik, Ozlem M Herguner, Neslihan O Mungan
Background: Autosomal recessive cerebellar ataxias (ARCAs) are a heterogeneous group of inherited neurodegenerative disorders. The aim of this study was to present the clinical and genetic features of patients with ataxia complaints and those genetically diagnosed with ARCAs. Materials and Methods: Thirty-one children with ARCA were retrospectively analyzed. Results: Fourteen (45.2%) were boys and 17 (54.8%) were girls with the mean age at onset of symptoms of 46.13 ± 26.30 months (12–120 months). Of the 31 patients, 21 (67.7%) were from consanguineous marriages. Eight patients had Friedreich’s ataxia, five had ataxia telangiectasia, three had l-2-hydroxyglutaric aciduria, three had Joubert syndrome, two had neuronal ceroid lipofuscinosis, two had megalencephalic leukoencephalopathy with subcortical cysts, two had ataxia with ocular motor oculomotor apraxia type 1, one had cytochrome c oxidase deficiency, one had autosomal recessive spastic ataxia of Charlevoix-Saguenay, one had Niemann-Pick type C, one had congenital disorders of glycosylation, one had adrenoleukodystrophy, and one had cobalamin transport disorder. 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.
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Facebook and WhatsApp in identifying current practices of neurological physiotherapy intervention in neonatal intensive care units: In Indian scenario p. 90
Neha Sharma, Krati Omar, Navjyoti Gupta, Asir John Samuel
Background: Neonatal intensive care unit (NICU) is care of less gestational age babies, prenatal neurological insult such as asphyxia, and congenital abnormalities such as congenital heart disease (CHD). There is a few evidence about neurological interventions in NICUs. Aims and Objectives: To explore the current physiotherapy neurological practices in NICU by the cross-sectional online survey. Materials and Methods: 150 physiotherapy students from different physiotherapy colleges, who were posted in NICU during their clinical posting as a part of curriculum in the age group between 18 and 25 years were enrolled in the study. The study was carried out by sending the link to the students through social networking sites such as Facebook and WhatsApp. The survey was administrated using the online survey portal, SurveyMonkey (online survey services). The questionnaire was filled by physiotherapy students. Validated questionnaire approved by student project committee comprising 10 questions were included in the survey. Results: Out of 150 physiotherapy students, only 107 were responded back. No incomplete questionnaire was received from survey. We obtained 31%––always; 23%––usually; 24%––sometimes; 6%––seldom; and 16%––never performed neurological physiotherapy intervention in NICU. 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.
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Clinico-radiological profile of children with pontocerebellar hypoplasia p. 94
Ananthanarayanan Kasinathan, Naveen Sankhyan, Tessa Van Dijk, Paramjeet Singh, Pratibha Singhi
Aims and Objectives: Pontocerebellar hypoplasia (PCH) constitutes a heterogeneous group of neurodegenerative/neurodevelopmental disorder of pons and cerebellum with onset in prenatal period. This study aimed to discuss the clinical, radiological profile, and outcome of four infants with PCH attending our center. Materials and Methods: Data of children with psychomotor retardation seen between January 2015 and December 2015 at neurodevelopmental clinic was retrieved. PCH was defined by clinical and radiological criteria. Clinical features included were delay in attainment of milestones in more than two developmental domains accompanied by severe microcephaly. Radiological evidence of cerebellar volume loss with hypoplasia of pons was included. Patient charts were reviewed for clinical features, neuroimaging, electroencephalography, and biochemical investigations including serum and cerebrospinal lactate. Molecular genetic testing for the common p.A307S mutation in TSEN54 of the cases and their parents were also analyzed. Results: During this period, 101 children with psychomotor retardation were evaluated at our center. Of the 101, four children were with clinical and radiological evidence of PCH. In addition to psychomotor retardation and severe microcephaly, spasticity, bipyramidal signs, and epileptic spasms were universal in all four children. Three of the four children had optic atrophy and two had sensorineural hearing loss. Severe cerebellar hypoplasia with attenuated pons was seen in all four children. Two children had dragonfly appearance of cerebellum on coronal section. The commonest TSEN54 p.A307S mutation in children and their parents was not detected. 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
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Increased hemoglobin and plateletcrit levels indicating hemoconcentration in pediatric patients with migraine p. 99
Sevim Sahin, Betul Diler Durgut, Beril Dilber, Elif Acar Arslan, Tulay Kamasak, Ali Cansu
Introduction: Fluid intake was reported to reduce migraine attacks. This may be due to its effect on hemoconcentration. Hemoconcentration may manifest itself by increasing in the hemoglobin and platelet-related values. This study aimed to reveal hemoconcentration by evaluating complete blood cell counts in attack-free periods of pediatric patients with migraine. Materials and Methods: Consecutive children with migraine (n = 70) and tension-type headache (TTH) (n = 65) were compared with the control groups. Control 1 (n = 70) and control 2 (n = 60) groups consisted of age- and gender-matched patients, respectively. Control 2 group patients had gastrointestinal symptoms leading to fluid loss, which may have caused hemoconcentration. To evaluate hemoglobin and platelets together, the M1-value was created by multiplying hemoglobin level by plateletcrit. Results: The M1-value was higher in the migraine group than in control 1 and TTH groups (P = 0.017 and 0.034) and the hemoglobin and hematocrit levels were also higher in the migraine group than in control 2 group (P = 0.013 and 0.012). Female patients with migraine had higher hemoglobin levels as compared to the female patients in control group 1 (P = 0.041). Male patients with migraine had higher M1-values than the male patients in control group 1 (P = 0.034). In the subgroup of migraine with aura (n = 10), folic acid was significantly lower than the other patients with migraine (P = 0.02). Conclusion: This study suggests that migraine may be accompanied with hemoconcentration in children.
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Multiple cerebral hemorrhages during the course of Guillain–Barre syndrome: A case report p. 105
Guillain–Barré syndrome (GBS) is an acute inflammatory polyneuropathy. 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.
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Facial dysmorphism, hirsutism, and failure to thrive as manifestation of Leigh syndrome in a child with SURF1 mutation p. 108
Dhinesh Baskaran, Nahin Hussain
Leigh syndrome (or subacute necrotizing encephalomyelopathy) is a rare neurodegenerative disorder characterized by psychomotor retardation or regression, typically occurring in stepwise decrements. Onset is typically between ages 3 and 12 months. Neurological manifestations include hypotonia, spasticity, movement disorders (including chorea), cerebellar ataxia, and peripheral neuropathy, whereas extraneurological manifestations may include hypertrophic cardiomyopathy, hypertrichosis, anemia, renal tubulopathy, liver involvement, ptosis, and muscle weakness. Approximately 50% of affected individuals die by age 3 years, most often as a result of respiratory or cardiac failure. 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.
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Infantile presentation of Lehman syndrome with multiple lateral meningoceles, dural ectasias, and herniation of conus: A rare case report p. 111
Mohan Amuthabarathi, Kramadhari Harshith, Krishnan Nagarajan
Lehman syndrome, or lateral meningocele syndrome, is a rare disorder of skeletal malformation, characterized by facial dysmorphism and multiple lateral meningoceles. 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.
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Acute cerebral venous sinus thrombosis: A rare complication of primary varicella zoster virus infection p. 116
Champa Panwar, Surinder Singh, Neeraj Sharma
Varicella-Zoster is a benign self limiting exanthematous illness in pediatric population which can rarely present with severe neurological manifestations such as cerebral venous thrombosis(CVT).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.
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A novel SCN1A mutation: A case report p. 120
Mahmut Aslan, Bilge Ozgor, Serkan Kirik, Serdal Gungor
Introduction: Dravet syndrome (DS) is characterized by severe infant-onset myoclonic epilepsy with delayed psychomotor development and increased premature mortality. The seizures triggered by fire have been gradually decreased over time, and finally they start to occur without fever at the age of 2–3 years. Along with its initiation of myoclonic seizures in the early period, other types such as atypical absence, versive, and complex partial seizures occur between 1 and 4 years of age. Case Report: A 3-year-old male patient with refractory epilepsy and neuromotor developmental retardation was admitted to our clinic. The patient initially had seizures in the afebrile period, when he was 4 months old, and he had a total of five seizures by the age of 1 year. Neuromotor developmental retardation developed over time in patients with normal neuromotor development in the early stages of his life. His cranial magnetic resonance imaging and metabolic test findings were normal. The SCN1A mutation was investigated, and a new variant mutation of SCN1A, homozygous (p.Y1599Ffs*19-c.4796delA) was detected. The patient’s family was also screened and this new mutation was detected as heterozygous mutation. The patient had hepatomegaly. The etiology of hepatomegaly was investigated but no cause was found. 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.
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Intracranial rhabdomyosarcoma of the cerebellopontine angle in a 6-year-old child: A case report p. 124
Mohammad Sadegh Masoudi, Saber Zafarshamspour, Mohammad Ghasemi-Rad, Neda Soleimani, Christie Lincoln
Rhabdomyosarcoma (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 usually arise from parameningeal sites or metastasis from an extracranial site. Primary intracranial types are even rarer, with only 50 reported cases of primary intracranial RMS in the literature.Hereby, we report the case of a 6-year-old boy who presented with clinical and radiologic features of a cerebellopontine angle lesion, which turned out to be a RMS.
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Moebius syndrome: A rare entity or a missed diagnosis? p. 128
Sreetama Chowdhury, Shatanik Sarkar, Debasree Guha, Malay K Dasgupta
Moebius 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, ultimately stamped as Moebius syndrome on the basis of clinical findings suggestive of multiple cranial nerve palsies without any apparent cause.
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Primary hypokalemic periodic paralysis: Long-term management and complications in a child p. 132
Indar K Sharawat, Renu Suthar, Naveen Sankhyan, Pratibha Singhi
Hypokalemic 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 gene. She responded well to oral potassium supplementation, acetazolamide, and spironolactone therapy. Muscle weakness in HPP is reversible, and long-term management reduces frequency of paralysis and prevents permanent weakness.
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Split cord malformation type 2 with double dorsal lipoma: A sequela or a chance p. 135
Mohamed A Jamaluddin, Prakash Nair, Ganesh Divakar, Jaypalsinh A Gohil, Mathew Abraham
An 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 between the hemicords. Two lipomas were seen separately attached to each of the hemicords, the lipomas were dissected off the hemicords, and the hemicords were neurulated. The case helps revisit the unified theory proposed by Pang for SCM as well as the theory of premature disjunction in the pathogenesis of lipomeningocoele. Formation of the endomesenchymal tract splits the developing cord into two, whereas the premature detachment of neuroectoderm from the cutaneous ectoderm can lead to lipomeningocoeles. The present case is only the fourth case ever reported of an SCM type 2 with double lipoma. In the case report, we discuss the embryological basis of this condition and surgical nuances of management.
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Delayed diagnosis of cobalamin E defect in an adolescent patient p. 140
Merve Koc Yekeduz, Elif Unal Ince, Talia Ileri, Mehmet Ertem, Fatma Tuba Eminoglu
Cobalamin and its metabolites play a critical role in deoxyribonucleic acid synthesis. Disorders of cobalamin metabolism are rare and related with neurological and hematological problems. 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.
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A rare case of intramedullary lipoma of brainstem to thoracic cord––What to do? p. 145
Ishu Bishnoi, Pardaman Singh, Geetika Duggal, Sunil Sorout
Introduction: Intramedullary lipomas are rare, representing 1% of spinal cord tumors. There are less than 25 case reports about cord lipoma extending into brain. Due to paucity of literature, etiology and management are not well established. Case report: A 14-month-old baby girl was brought with complaints of torticollis toward right side, left upper limb monoplegia, and swallowing difficulty for 6 months. Magnetic resonance imaging brain and spine confirmed the diagnosis of cervicothoracic intramedullary lipoma extending till pontomedullary junction, invading subcutaneous fat. She underwent partial resection of lesion along with decompression. The recovery was good. Conclusion: Such lipoma needs extensive pre-, intra-, and postoperative planning. The goal should be decompression, rather than excision. Outcome is good with partial resection.
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Cerebral venous sinus thrombosis following primary varicella infection in a child p. 150
Leema P Cornelius, Vivekasaravanan Raju, Asir J Paulraj
Varicella infection commonly called chicken pox is a benign self-limiting infection in children. Neurological complications following varicella infection are rare. Cerebral venous sinus thrombosis following varicella infection is very rare. Herewith we report a child who developed transverse and sigmoid sinus thrombosis following chicken pox.
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A rare case of peripheral nerve hyperexcitability in childhood: Isaacs syndrome p. 153
Seda Kanmaz, Muhittin Ozcan, Erdem Simsek, Hepsen M Serin, Ibrahim Aydogdu, Sarenur Gokben, Hasan Tekgul
Isaacs syndrome is rare disorder with peripheral nerve hyperexcitability syndromes with acquired neuromyotonia in childhood. We present a 13-year-old girl with muscle stiffness and neuromyotonia diagnosed Isaac syndrome with spontaneous discharge potentials on motor unit in electromyography and the diagnosis supported by the presence of antinuclear antibodies. A successful treatment was obtained using low-dose carbamazepine. Cause of Isaacs syndrome is unknown, generally thought to be an autoimmune etiology with voltage-gated potassium channelopathy; it sometimes occurs as a paraneoplastic syndrome. Early use of electromyography has critical role in the differential diagnosis with certain muscle disorders and peripheral nerve hyperexcitability syndromes.
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A rare case report of Guillain–Barré syndrome presenting as unilateral facial palsy with isolated acute bulbar palsy p. 157
Prachi Yadav, Sahil Dhaka, Richa Chaudhary, Sachin Damke, Sham Lohiya
Guillain–Barré syndrome (GBS) is an immune-mediated acute inflammatory polyradiculoneuropathy and it is the most common cause of acute flaccid paralysis worldwide. There are some rare variants of GBS, which may be easily missed unless suspected. Here we present a case of GBS presenting as isolated acute bulbar palsy. A 10-month-old infant, known case of tricuspid atresia with pulmonary stenosis, presented with left-sided lower motor neuron type of facial palsy and palsy of bilateral glossopharyngeal and vagus nerve of 2 weeks’ duration. On detailed neurological examination, motor and sensory system were normal. Nerve conduction study showed demyelinating motor neuropathy and hence the diagnosis of GBS was made. To the best of our knowledge, no case of isolated bulbar palsy due to GBS in infancy has been reported.
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Amniotic band syndrome with placenta–encephalocele adhesion: An uncommon case p. 160
Aldo Jose Ferreira da Silva
Amniotic band syndrome is a rare condition that is associated with various malformations. Its etiology is controversial. The neuroimage shown here is of a newborn with placenta–encephalocele adhesion and other malformations that suggest amniotic band syndrome.
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West syndrome and neurocutaneous syndromes: A never-ending association p. 162
Singanamalla Bhanudeep, Priyanka Madaan, Niteesh Bharadwaj, Lokesh Saini, Dipankar De
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Autism spectrum disorder and mammalian target of rapamycin system p. 164
Annio Posar, Paola Visconti
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James Goodrich: A personal tribute p. 166
Sandip Chatterjee
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