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2015| April-June | Volume 10 | Issue 2
Online since
June 22, 2015
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CASE REPORTS
Autism according to diagnostic and statistical manual of mental disorders 5
th
edition: The need for further improvements
Annio Posar, Federica Resca, Paola Visconti
April-June 2015, 10(2):146-148
DOI
:10.4103/1817-1745.159195
PMID
:26167220
The fifth edition of the diagnostic and statistical manual of mental disorders (DSM-5) introduced significant changes in the classification of autism spectrum disorders (ASD), including the abolition of the diagnostic subcategories proposed by DSM-IV-Text Revision. DSM-5 describes three levels of increasing severity of ASD. The authors report two explanatory cases with ASD (verbal boys, aged about 7 and a half years, without intellectual disability). According to DSM-5, both cases fall into the lowest severity level of ASD. However, their neuropsychological and neurobehavioral profile varies significantly. While the first boy showed a prevalent impairment of visuoconstructional and visuoperceptual abilities, the second one presented a predominant involvement of verbal functions, with qualitative impairments in communication. A further step forward in the definition and classification of ASD, taking into account both intensity and quality of symptoms, is recommended in order to formulate a reliable prognosis, plan an individualized treatment and monitor the clinical course over time.
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ORIGINAL ARTICLES
Clinical profile, predisposing factors, and associated co-morbidities of children with cerebral palsy in South India
Vykuntaraju K Gowda, Anil Kumar, Sanjay K Shivappa, Praveen Kumar Srikanteswara, Shivananda , MS Mahadeviah, M Govindraj, Premalatha Ramaswamy
April-June 2015, 10(2):108-113
DOI
:10.4103/1817-1745.159191
PMID
:26167210
Introduction:
Cerebral palsy (CP) is the most common physical disorder of children. Causes like jaundice and birth injury though are decreasing; complications resulting from the survival of low birth weight babies are replacing some of the older etiologies. Hence, this study was planned.
Objectives:
The objective was to study the clinical patterns, predisposing factors, and co-morbidities in children with CP.
Materials and Methods:
The present study is a hospital based prospective study conducted from January 2012 to January 2013 in children presenting to neurodevelopmental clinic at a tertiary care teaching hospital in India. Hundred cases with clinical features suggestive of CP were included in the study. Cases were evaluated by history, clinical examination, and necessary investigations.
Results:
Results of the study showed 81% of spastic, 12% of hypotonic, 5% of dystonic, and 2% of mixed CP cases. The mean age of presentation was 2 year, 2 month, and male to female ratio of 1:2. Pregnancy-induced hypertension (PIH) was the most common antenatal complication observed in 6%. Four percent had neonatal sepsis and 19% were born premature. Associated co-morbidities were mental retardation (55%), seizure disorder (46%), visual problems (26%), hearing problems (19%), and failure to thrive (47%).
Discussion:
Sex distribution observed in our study was male to female ratio of 1.2, which was comparable with a multicenter study in Europe. PIH was observed in 6% of cases, which was comparable with prior studies. Birth asphyxia was observed in 43% of cases. Eighty-one percent of the cases constituted a spastic variety of CP which was comparable to other studies.
Conclusion:
Perinatal asphyxia was the important etiological factor. We found preventable intranatal causes (60%) and antenatal causes (20%) forming a significant proportion. Co-morbidities were significantly observed in our study.
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CASE REPORTS
Schwartz-Jampel syndrome
Sadanandavalli Retnaswami Chandra, Thomas Gregor Issac, N Gayathri, Sumanth Shivaram
April-June 2015, 10(2):169-171
DOI
:10.4103/1817-1745.159202
PMID
:26167227
Schwartz-Jampel syndrome is a very rare congenital myotonic syndrome with typical phenotypic and electrophysiological features. Diagnosis is made by awareness into the typical phenotypic characters.
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ORIGINAL ARTICLES
Parieto-occipital encephalomalacia in children; clinical and electrophysiological features of twenty-seven cases
Pakize Karaoglu, Ayse Ipek Polat, Uluç Yis, Semra Hiz
April-June 2015, 10(2):103-107
DOI
:10.4103/1817-1745.159187
PMID
:26167209
Context:
Brain injuries occurring at a particular time may cause damages in well-defined regions of brain. Perinatal hypoxic ischemic encephalopathy and hypoglycemia are some of the most common types of brain injuries. Neonatal hypoglycemia can cause abnormal myelination in parietal and occipital lobes resulting in parieto-occipital encephalomalacia. There is a small number of studies about clinical and electroencephalographic (EEG) features of children with parieto-occipital encephalomalacia. They might have important neurologic sequelae such as cortical visual loss, seizures, and psychomotor retardation. Aims: We aimed to evaluate the causes of parieto-occipital encephalomalacia and evaluate the clinical and electrophysiological features of children with parieto-occipital encephalomalacia.
Settings and Design:
We evaluated clinical features and EEGs of 27 children with parieto-occipital encephalomalacia.
Statistical Analysis Used:
Descriptive statistics were used.
Results:
Hospitalization during the neonatal period was the most common cause (88.9%) of parieto-occipital brain injury. Eleven patients (40.7%) had a history of neonatal hypoglycemia. Twenty-three patients (85.2%) had epilepsy and nine of the epileptic patients (39%) had refractory seizures. Most of the patients had bilateral (50%) epileptic discharges originating from temporal, parietal, and occipital lobes (56.2%). However, some patients had frontal sharp waves and some had continuous spike and wave discharges during sleep. Visual abnormalities were evident in 15 (55.6%) patients. Twenty-two (81.5%) had psychomotor retardation. Fine motor skills, social contact and language development were impaired more than gross motor skills.
Conclusions:
In our study, most of the patients with parieto-occipital encephalomalacia had an eventful perinatal history. Epilepsy, psychomotor retardation, and visual problems were common neurologic complications.
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CASE REPORTS
Pediatric posterior cerebral artery stroke as a presentation of atlantoaxial dislocation
HS Nandish, Sachin A Borkar, Shashank S Kale, Bhawani S Sharma, AK Mahapatra
April-June 2015, 10(2):149-152
DOI
:10.4103/1817-1745.159186
PMID
:26167221
We report an uncommon case of posterior circulation stroke in a young patient due to occlusion of posterior cerebral artery with reducible atlantoaxial dislocation (AAD). Plain dynamic radiography showed reducible AAD and intra-arterial digital subtraction angiography demonstrated occlusion of left posterior cerebral artery. Patient underwent stabilization of craniovertebral junction by occipito cervical fixation using occipit-C2/C3 lateral mass screws and rod fixation and has since experienced no recurrent symptoms. Vertebrobasilar insufficiency is a known entity in a patient with reducible AAD; however, isolated involvement of posterior cerebral artery is very rare. So this condition should be kept in mind, and necessary interventions must be undertaken at the earliest to avoid further irreversible brain damage.
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ORIGINAL ARTICLES
Assessing the prevalence distribution of abnormal laboratory tests in patients with simple febrile seizure
Parsa Yousefichaijan, Fatemeh Dorreh, Ladan Abbasian, Abdol Ghader Pakniyat
April-June 2015, 10(2):93-97
DOI
:10.4103/1817-1745.159180
PMID
:26167207
Introduction:
Febrile seizure is an important issue in pediatric practice. Even some pediatricians do not have a proper approach to febrile seizure, making the sick child undergo complex laboratory tests or invasive procedures or even long-term treatment with anticonvulsant drugs. In spite of multiple studies, many controversies have still remained about the significance of febrile seizure. The goal of this study is to assess the prevalence distribution of routinely requested laboratory tests results in simple febrile seizure.
Materials and Methods:
In a descriptive study, 549 patients with simple febrile seizure were studied. The routine lab tests including complete blood count, electrolyte, urine analysis, and cerebrospinal fluid (CSF) analysis had already been performed for all patients and the results had been recorded in their medical data. These results were collected and statistically analyzed through SPSS software.
Results:
About 58.7% of our cases were male. Most of the cases were 12-24 months old and the mean body temperature of them was 38.2°C. 99.3% of blood sugar tests, 98% of blood calcium tests, 100% and 99.5% of sodium, and potassium tests, respectively, 100% of blood creatinine, 96.9% of blood urea nitrogen, and 99.1% of urine analysis tests were normal. CSF analysis was done in only 49 cases and the results were normal in all of them.
Conclusion:
The percentage of abnormal laboratory test results was not statistically significant in febrile seizure and shows that performing all these tests in all patients with simple febrile seizure as routine is not necessary.
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CASE REPORTS
Rubinstein-Taybi syndrome with agenesis of corpus callosum
Shubhankar Mishra, Sunil Kumar Agarwalla, Dnyaneshwar Ramesh Potpalle, Nishant Nilotpal Dash
April-June 2015, 10(2):175-177
DOI
:10.4103/1817-1745.159207
PMID
:26167229
Rubinstein-Taybi syndrome (RSTS) is a rare genetic disorder with characteristic morphological anomaly. Our patient was a 4.5-year-old girl came with features like broad thumbs, downward slanting palpebral fissures and mental retardation. Systemic abnormalities such as repeated infection, seizure with developmental delay were also associated with it. She was having head banging behavior abnormal slurring speech, incoordination while transferring things from one hand to other. Galaxy of clinical pictures and magnetic resonance imaging report helped to clinch the diagnosis as a case of "RSTS with corpus callosal agenesis" which to the best of our knowledge has never been reported in past from India.
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Posttraumatic orbital emphysema in a 7-year-old girl associated with bilateral raccoon eyes: Revisit of rare clinical emergency, with potential for rapid visual deterioration
Guru Dutta Satyarthee, BS Sharma
April-June 2015, 10(2):166-168
DOI
:10.4103/1817-1745.159199
PMID
:26167226
Orbital emphysema is usually considered as self-limiting condition, rarely carries a risk of vision loss as catastrophic consequences due to occlusion of the central retinal artery. It can occur as a consequence of head trauma associated with fracture of the orbit, previous surgery, infection or exposure to high-pressure air jet. Authors report an interesting 7-year-old girl who presented with proptosis of left eye, associated with swelling of eyelids of both eyes. Computerized tomography scan head and orbit revealed orbital emphysema in the left eye with fracture of medial wall of left orbit and fracture of orbit roof with small pneumocephalus over left basifrontal region. Fortunately, she responded well to conservative therapy. Current article reminds uncommon condition to prevent potential visual loss, describing briefly management options.
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Giant parietal lobe infantile gliosarcoma in a 5-year-old child
Hemant V Savant, Srikant Balasubramaniam, Vijay Mahajan
April-June 2015, 10(2):159-161
DOI
:10.4103/1817-1745.159194
PMID
:26167224
The relative frequency of pediatric gliosarcoma (GSM) is 1.9% among glioblastomas and 0.5% among pediatric central nervous system tumors. A 5-year-old female child came to us with history of fever and loss of appetite since 2 weeks and right sided weakness since 4 days. Magnetic resonance imaging showed a large heterogeneously enhancing space occupying lesion in the left parieto-occipital region. A parieto-occipital craniotomy with radical excision of tumor was performed. The patient was given adjuvant therapy following surgery and survived until 9 months following surgery. The etiopathogenesis, treatment modalities and prognosis of GSM is discussed.
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ORIGINAL ARTICLES
Assessment of ultrasound as a diagnostic modality for detecting potentially unstable cervical spine fractures in pediatric severe traumatic brain injury: A feasibility study
Deepak Agrawal, Tej Prakash Sinha, Sanjeev Bhoi
April-June 2015, 10(2):119-122
DOI
:10.4103/1817-1745.159196
PMID
:26167212
Background:
Early cervical spine clearance is extremely important in unconscious trauma patients and may be difficult to achieve in emergency setting.
Objectives:
The aim of this study was to assess the feasibility of standard portable ultrasound in detecting potentially unstable cervical spine injuries in severe traumatic brain injured (TBI) patients during initial resuscitation.
Materials and Methods:
This retro-prospective pilot study carried out over 1-month period (June-July 2013) after approval from the institutional ethics committee. Initially, the technique of cervical ultrasound was standardized by the authors and tested on ten admitted patients of cervical spine injury. To assess feasibility in the emergency setting, three hemodynamically stable pediatric patients (≦18 years) with isolated severe head injury (Glasgow coma scale ≤8) coming to emergency department underwent an ultrasound examination.
Results:
The best window for the cervical spine was through the anterior triangle using the linear array probe (6-13 MHz). In the ten patients with documented cervical spine injury, bilateral facet dislocation at C5-C6 was seen in 4 patients and at C6-C7 was seen in 3 patients. C5 burst fracture was present in one and cervical vertebra (C2) anterolisthesis was seen in one patient. Cervical ultrasound could easily detect fracture lines, canal compromise and ligamental injury in all cases. Ultrasound examination of the cervical spine was possible in the emergency setting, even in unstable patients and could be done without moving the neck.
Conclusions:
Cervical ultrasound may be a useful tool for detecting potentially unstable cervical spine injury in TBI patients, especially those who are hemodynamically unstable.
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CASE REPORTS
Isolated thoracic (D5) intramedullary epidermoid cyst without spinal dysraphism: A rare case report
Sudhansu Sekhar Mishra, Mani Charan Satapathy, Rama Chandra Deo, Soubhagya Ranjan Tripathy, Satya Bhusan Senapati
April-June 2015, 10(2):133-136
DOI
:10.4103/1817-1745.159206
PMID
:26167216
Spinal epidermoid cyst, congenital or acquired, is mainly congenital associated with spinal dysraphism, rarely in isolation. Intramedullary epidermoid cysts (IECs) are rare with less than 60 cases reported so far; isolated variety (i.e., without spinal dysraphism) is still rarer. Complete microsurgical excision is the dictum of surgical treatment. A 14-year-old boy presented with 4-month history of upper backache accompanied with progressive descending paresthesia with paraparesis with early bladder and bowel involvement. His condition deteriorated rapidly making him bedridden. Neurological examination revealed upper thoracic myeloradiculopathy probably of neoplastic origin with sensory localization to D5 spinal level. Digital X-ray revealed no feature suggestive of spinal dysraphism. Contrast magnetic resonance imaging (MRI) characteristics clinched the presumptive diagnosis. Near-total microsurgical excision was done leaving behind a small part of the calcified capsule densely adhered to cord. Histopathological features were confirmative of an epidermoid cyst. Postoperatively, he improved significantly with a gain of motor power sufficient to walk without support within a span of 6 months. Spinal IECs, without any specific clinical presentation, are often diagnosed based upon intraoperative and histopathological findings, however early diagnosis is possible on complete MRI valuation. Complete microsurgical excision, resulting in cessation of clinical progression and remission of symptoms, has to be limited to sub-total or near-total excision if cyst is adherent to cord or its confines.
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A rare case of glycine encephalopathy unveiled by valproate therapy
Velusamy Subramanian, Pramila Kadiyala, Praveen Hariharan, E Neeraj
April-June 2015, 10(2):143-145
DOI
:10.4103/1817-1745.159200
PMID
:26167219
Glycine encephalopathy (GE) or nonketotic hyperglycinemia is an autosomal recessive disorder due to a primary defect in glycine cleavage enzyme system. It is characterized by elevated levels of glycine in plasma and cerebrospinal fluid usually presenting with seizures, hypotonia, and developmental delay. In our case, paradoxical increase in seizure frequency on starting sodium valproate led us to diagnose GE.
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Hemispherotomy in an infant with hemimegalencephaly
Shilpa D Kulkarni, Chandrashekhar E Deopujari, Varsha A Patil, Rafat J Sayed
April-June 2015, 10(2):188-192
DOI
:10.4103/1817-1745.159210
PMID
:26167233
Hemimegalencephaly (HME) is a rare hamartomatous congenital malformation of the brain. The epilepsy pattern in HME can be partial seizures or may present as spasms as in epileptic encephalopathy. Epilepsy associated with HME is usually resistant to antiepileptic drugs and requires surgical intervention. Hemispheric disconnection has been reported to be efficient in seizure control and prevents further cognitive injury and developmental delay. We report a case of HME, who underwent a two-stage hemispherotomy due to complications in the first surgery. She had more than 90% reduction of seizures with good developmental outcome on follow-up. Thus, despite risks of the procedure, early surgery should be preferred in infants with HME.
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Ohtahara syndrome associated with hemimegalencephaly and intracranial lipoma
Vykuntaraju K Gowda, Ashwini Bhat, Maya Bhat, Premalatha Ramaswamy
April-June 2015, 10(2):185-187
DOI
:10.4103/1817-1745.159212
PMID
:26167232
Hemimegalencephaly is a disorder of cortical malformation and is associated with various disorders including various neurocutaneous syndromes and many seizure types. We present a case of hemimegalencephaly associated with Ohtahara syndrome and intracranial and facial lipoma.
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Möbius syndrome associated with neurofibromatosis Type 1: A rare co-occurrence
Ankush Sharma, Nitin Gupta, Tejinder Talwar, Munish Gupta
April-June 2015, 10(2):172-174
DOI
:10.4103/1817-1745.159205
PMID
:26167228
Möbius syndrome is a rare congenital disorder presenting with facial diplegia and horizontal gaze disturbance. Patients can have additional cranial nerve palsies and musculoskeletal deformities. Neurofibromatosis Type 1 is an uncommon neurocutaneous disorder. The only plausible link between these two disorders is autosomal dominant pattern of inheritance. Simultaneous occurrence of these two uncommon disorders has not been yet reported in literature, and it is the first case report to the best of our knowledge.
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Spondylocostal dysostosis (Jarcho-Levine syndrome) associated with occult spinal dysraphism: Report of two cases
Natarajan Muthukumar
April-June 2015, 10(2):127-132
DOI
:10.4103/1817-1745.159204
PMID
:26167215
Spondylocostal dysostosis, also known as Jarcho-Levine syndrome, is a rare disorder characterized by multiple vertebral and rib anomalies at birth. The association of occult spinal dysraphic lesions with this entity is rare. Two patients with spondylocostal dysostosis and occult spinal dysraphic lesions, one with type I split cord malformation and another with spinal dermal sinus are being reported. A 7-month-old female child who was operated at birth for imperforate anus was noted to have a dimple at the low back with altered skin color around the dimple. Examination revealed the right lower extremity was slightly thinner than the left. Plain radiographs showed features of spondylocostal dysostosis with scoliosis. Magnetic resonance imaging (MRI) showed a type I split cord malformation at the lumbosacral junction with low-lying conus and terminal syringomyelia. Patient underwent excision of the bony spur uneventfully. A 14-month-old male child was noted to have a small swelling in the low back along with deformity of the right lower chest since birth. Plain radiographs revealed features of spondylocostal dysostosis. MRI showed a spinal dermal sinus at the lumbosacral junction with a low-lying conus. The patient underwent excision of the spinal dermal sinus and untethering of the cord uneventfully. Although rare, spondylocostal dysostosis can be associated with occult spinal dysraphic lesions like type I split cord malformations or spinal dermal sinus. Physicians should be aware about the possibility of children with spondylocostal dysostosis harboring occult spinal dysraphic lesions so that these patients receive appropriate treatment.
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Langerhans cell histiocytosis with presentation as orbital disease
Ashok B Bhanage, Anand D Katkar, Prajakta S Ghate
April-June 2015, 10(2):162-165
DOI
:10.4103/1817-1745.159197
PMID
:26167225
Langerhans cell histiocytosis (LCH) is an uncommon multisystem disease with an abnormal polyclonal proliferation of Langerhans cells that invade various organs. In rare instances, the affection of the orbit is the only and the first symptom. We report an unusual case of an 18-month-old male who presented with orbital disease as the first symptom, in the form of chronic presentation of periorbital swelling (2 months duration) with acute inflammation (1-week duration) giving a suspicion of orbital cellulitis. Histopathology after radical excision confirmed the diagnosis of LCH and was advised initial therapy as per Histiocyte Society Evaluation and Treatment Guidelines (2009) but was lost to follow-up only reappearing with progression (multisystem LCH with risk organ involvement) and developed progressive active disease on treatment after 5 weeks. He was treated with salvage therapy for risk patients achieving complete remission.
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NEUROIMAGINGS
A pediatric epilepsy classic: "Double cortex" syndrome
Shabdeep Kaur, Mandeep Singh Ghuman, Leve Joseph Devarajan
April-June 2015, 10(2):125-126
DOI
:10.4103/1817-1745.159201
PMID
:26167214
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ORIGINAL ARTICLES
Supratentorial extradural hematoma in children: An institutional clinical experience of 65 cases
Pratap Chandra Nath, Sudhansu Sekhar Mishra, Srikant Das, Rama Chandra Deo
April-June 2015, 10(2):114-118
DOI
:10.4103/1817-1745.159192
PMID
:26167211
Aim and Objective:
To survey the epidemiology, management, and severity of extradural hematoma (EDH) in children.
Materials and Methods:
All patients of EDH (n = 65) in the age group of 0-16 years admitted to our department during the period of August 13 and July 14 were analyzed retrospectively from the hospital records. In all patients, age, sex, mode of injury, clinical presentation, site of EDH, management, duration of hospitalization, and outcome were evaluated. Observation and
Results:
Of 65 patients, males were 70.76% with a male to female ratio of 2.4:1, most of the victims (47.69%) were in the age group of 11-16 years. Mean duration of hospitalization was 4.32 days. The most common mode of injury was fall from height in 29 cases (44.61%) followed by road traffic accident (RTA) in 23 cases (35.35%). Temporoparietal EDH was the most common computed tomography finding present in 22 (33.84%) patients. 67.69% patients presented to casualty with minor head injury having Glasgow coma scale (GCS) between 14 and 15. Most common presenting feature was vomiting in 52 cases (80%) and next to it was altered sensorium. The mortality rate was 7.69% (n = 5).
Conclusion:
Extradural hematoma is a life-threatening entity encountered in pediatric head injury. Timely intervention and diagnosis decrease mortality to a great degree. Most of the mortality is encountered in patients who presented late at the neurosurgical unit with low GCS.
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Relationship of Lennox-Gastaut syndrome with perinatal event: A cross-sectional study
Achal Kumar, Vimal Kumar Paliwal, Vikas Agarwal, Zafar Neyaz, Hira Lal, Gaurav Goel
April-June 2015, 10(2):98-102
DOI
:10.4103/1817-1745.159184
PMID
:26167208
Introduction:
About one-half of children with Lennox-Gastaut syndrome (LGS) have history of birth hypoxia or other perinatal event but the knowledge about clinical, radiological profile and severity of epilepsy in these children as compared to those without a perinatal event is not known.
Materials and Methods:
Thirty-one children with LGS were enrolled in this study and divided into two groups: One group with the perinatal event and other group without evidence of the perinatal event. We hypothesized that LGS with the perinatal event will have an early age of onset of LGS, more motor deficits and abnormal brain magnetic resonance imaging (MRI) and more severe epilepsy.
Results:
There were 17 children in the perinatal event group and 14 in the other group. The mean age of onset of illness was significantly earlier in the perinatal event group (
P
< 0.05). More children in the perinatal event group had delayed milestones (
P
< 0.05), had higher seizure frequency (P < 0.05) however; there was no significant difference in number of anti-epileptic drugs consumed, motor deficits or MRI abnormalities.
Conclusion:
LGS children with the perinatal event have more severe epilepsy with early onset of disease and delayed milestones. History of perinatal insult in these children may help in predicting prognosis in LGS.
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CASE REPORTS
Bilateral basal ganglia calcification and recurrent generalized seizures as initial presentation of idiopathic hypoparathyroidism in an infant
Manzoor Ahmad Bhat, Bashir Ahmad Laway, Farhat Mustafa
April-June 2015, 10(2):178-180
DOI
:10.4103/1817-1745.159209
PMID
:26167230
Pathological calcification of basal ganglia has been encountered in children since long back and is associated with various disease entities both acute and chronic. Idiopathic hypoparathyroidism is an important cause of basal ganglia calcification and can account for up to 73.8% of cases. The pathogenesis of basal ganglia calcification in hypoparathyroidism is not clear, however, a high calcium-phosphorus product and poor calcium control are believed to be directly related to calcification. Besides, a direct correlation is seen with the duration of hypocalcemia; the critical duration being ≥4 years. In the presented patient, basal ganglia calcification was seen at a very young age of 6 months. To best of our knowledge, this is probably the youngest case of bilateral basal ganglia calcification in idiopathic hypoparathyroidism in literature. This suggests that besides duration of hypocalcemia, certain genetic factors and the intrauterine milieu may have a role in the pathogenesis of basal ganglia calcification.
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Iniencephaly: Case Report
Hernando R Alvis-Miranda, Doris A Bula-Anichiarico, Willem G Calderón-Miranda, Luis R Moscote-Salazar
April-June 2015, 10(2):181-184
DOI
:10.4103/1817-1745.159211
PMID
:26167231
The iniencephaly involves a variable defect in the occipital bone, resulting in a large foramen magnum, partial or total absence of the cervical and thoracic vertebrae, accompanied by incomplete closure of arcs and/or vertebral bodies, significant shortening of the spinal column and hyperextension of the malformed cervicothoracic spine; the individual's face is deviated upward, the mandibular skin is directly continuous with anterior thorax due to the absence of neck. Its incidence is about 1:1000-1:2000 births, so this is a pretty rare neural tube defect. We present a case of iniencephaly in association with cardiovascular, spinal cord, and intracranial malformations that ended demonstrating the low survival of patients affected with this condition.
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Infected cervico-dorsal dermoid cyst with fluid - fluid level
Amit Mahore, KM Avinash, Dattatraya Muzumdar, Raghvendra Ramadasi
April-June 2015, 10(2):137-139
DOI
:10.4103/1817-1745.159208
PMID
:26167217
We report a case of a 22-year-old female who was operated at the age of 3 months for cervico-dorsal swelling. She presented with gradual onset, progressively worsening dull aching pain in the cervico-dorsal region, 21 years following previous surgery. Magnetic resonance imaging showed intradural dermoid cyst with the fluid level. She underwent excision of the dermoid cyst with excision of the wall. The clinical profile, etiopathogenesis, radiological features, and management of intraspinal dermoid cysts are discussed in the light of current literature.
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85
Valproate therapy exacerbating intermediate phenotype of methylmalonic aciduria
Aditya Murgai, Aviraj Deshmukh, Vinod Puri, Neera Chaudhry, Seema Kapoor
April-June 2015, 10(2):140-142
DOI
:10.4103/1817-1745.159203
PMID
:26167218
A, 11-year-old male, with delayed milestones after the age of 6 months with recurrent myoclonus and generalized tonic-clonic seizures had clinical worsening after institution of valproate, was detected to have elevated serum lactate level and marked methyl malonic aciduria. Patient had remarkable improvement following withdrawal of valproate and substitution of hydroxocobalamin.
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3,091
102
Trigeminal hypoplasia due to vertebrobasilar dolichoectasia: A new entity
Abhishek Jha, Prakhar Gupta, Mohammad Haroon, Gaurav Shah, Gagan Gupta, Mohd Khalid
April-June 2015, 10(2):153-155
DOI
:10.4103/1817-1745.159189
PMID
:26167222
The term "vertebrobasilar dolichoectasia" refers to anomalous dilatation of the intracranial arteries associated with elongation or tortuosity of the affected vessels. The etiology of the disease is unknown and is usually detected incidentally. The predominant clinical manifestations arise due to the mass effect of the dilated vessels and may include cranial nerve compression, extrinsic aqueductal compression, motor and sensory disturbances. Trigeminal hypoplasia is a very uncommon condition, usually described in association with Goldenhar-Gorlin syndrome and has not yet been attributed to vertebrobasilar dolichoectasia. The current case report highlights this rare association of trigeminal nerve hypoplasia and vertebrobasilar dolichoectasia, leading to hemifacial and corneal anesthesia.
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A case of postvaricella cerebral angiopathy with a good outcome in a child
Maria Cristina Magagnini, Luisa La Spina, Daniela Gioé, G Del Campo, G Belfiore, P Smilari, Filippo Greco
April-June 2015, 10(2):156-158
DOI
:10.4103/1817-1745.159193
PMID
:26167223
Cerebral vasculopathy is a serious but uncommon complication of varicella-zoster-virus (VZV) infection. Diagnosis is based on a recent history of VZV infection, signs and symptoms of transient ischemic attack or stroke, and vascular anomalies on neuroimaging. We report a case of postvaricella cerebral angiopathy in a 5-year-old child, who was admitted after three episodes of transient right hemiplegia, each one lasting a few minutes. He had contracted chicken pox, the month prior to admission. Brain magnetic resonance imaging showed hyperintense signals in the left lenticular and caudate nuclei, which can be considered to be a result of vasculopathy.
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3,266
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LETTERS TO THE EDITOR
Large brain abscess in a newborn
Satya Bhusan Senapati, Sudhansu Sekhar Mishra, Mani Charan Satapathy
April-June 2015, 10(2):193-194
DOI
:10.4103/1817-1745.159181
PMID
:26167234
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2,979
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Emanuel syndrome: A rare disorder that is often confused with Kabuki syndrome
Shailendra Kapoor
April-June 2015, 10(2):194-195
DOI
:10.4103/1817-1745.159183
PMID
:26167235
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3,959
132
NEUROIMAGINGS
Type 1 lissencephaly and multiple afebrile seizures in a 2-month-old baby
Mithilesh Shibchurn
April-June 2015, 10(2):123-124
DOI
:10.4103/1817-1745.159198
PMID
:26167213
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3,177
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© 2005 - Journal of Pediatric Neurosciences | Published by Wolters Kluwer -
Medknow
Online since 10
th
November, 2005