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1.  Management of raised intracranial pressure in children with traumatic brain injury 
Increased intracranial pressure (ICP) is associated with worse outcome after traumatic brain injury (TBI). The current guidelines and management strategies are aimed at maintaining adequate cerebral perfusion pressure and treating elevated ICP. Despite controversies, ICP monitoring is important particularly after severe TBI to guide treatment and in developed countries is accepted as a standard of care. We provide a narrative review of the recent evidence for the use of ICP monitoring and management of ICP in pediatric TBI.
PMCID: PMC4302538  PMID: 25624921
Craniectomy; intracranial pressure; traumatic brain injury
2.  Outcome of supratentorial intraaxial extra ventricular primary pediatric brain tumors: A prospective study 
Tumors of the central nervous system (CNS) are the second most frequent malignancy of childhood and the most common solid tumor in this age group. CNS tumors represent approximately 17% of all malignancies in the pediatric age range, including adolescents. Glial neoplasms in children account for up to 60% of supratentorial intraaxial tumors. Their histological distribution and prognostic features differ from that of adults.
Aims and Objectives:
To study clinical and pathological characteristics, and to analyze the outcome using the Engel's classification for seizures, Karnofsky's score during the available follow-up period of minimum 1 year following the surgical and adjuvant therapy of supratentorial intraaxial extraventricular primary pediatric (SIEPP) brain tumors in children equal or less than 18 years.
Materials and Methods:
The study design is a prospective study done in NIMS from October 2008 to January 2012. All the patients less than 18 years of age operated for SIEPP brain tumors proven histopathologically were included in the study. All the patients with recurrent or residual primary tumors or secondaries were excluded from the study. Post operative CT or magnetic resonance imaging (MRI) is done following surgery.
Results and Analysis:
There were 2, 8 and 20 patients in the age range of 0-2 years, >2-10 years and 10-18 years, respectively. There were 21 male patients and 9 female patients. Out of 30 patients, 16 had lesion in the temporal lobe, 6 in frontal lobe, 4 in thalamus, 3 in parietal lobe and 1 in occipital lobe. Out of 30 patients, 11 patients had malignant lesions and nineteen patients had benign lesions. Gross total excision could be achieved in 19 patients and subtotal in 11 patients. Seven patients had mortality and four of the remaining 23 patients had increased deficits postoperatively. Remaining 19 patients either improved or remained same.
SIEPP brain tumors have male preponderance, occur in 95% of patients in the age range of 7-18 years and have temporal lobe as the most common site of origin. The seizure presentation has good outcome compared to raised intracranial pressure features. The seizure control is quite good irrespective of subtotal or gross total excision in temporal lobe low grade tumors. All PNETs have survival of less than 1 year even with adjuvant chemo and radiotherapy.
PMCID: PMC4302539  PMID: 25624922
Brain tumors; extraventricular; intraaxial; outcome; pediatric; supratentorial
3.  The four square step test in children with Down syndrome: Reliability and concurrent validity 
To estimate test-retest reliability, inter-rater reliability and validation of a method for measuring balance by stepping over four squares, four square step test (FSST) in children with Down syndrome (DS).
A sample of 13 children with DS was recruited for the cross-sectional study. They were asked to perform FSST and the time taken was noted. For estimating test-retest reliability, FSST was done by principal investigator twice and Inter-rater reliability was assessed by principal investigator and second investigator with an interval of 7 days. FRT was used as the criterion dynamic balance measure to validate FSST. The data was tabulated and analysed statistically.
The test-retest reliability and inter-rater reliability of FSST are ICC(1,1) = 0.70 (0.64-0.90) and ICC(2,1) = 0.78 (0.62-0.91) respectively. The Bland-Altman limits of agreement were also satisfied. Concurrent validity between FRT and FSST with Spearman's ρ = −0.58 (−0.86 to −0.13).
FSST has moderate to good concurrent validity and good reliability among the children with Down syndrome.
PMCID: PMC4302540  PMID: 25624923
Down syndrome; dynamic balance; functional reach test; inter-rater reliability; test-retest reliability; validity
4.  Is high prevalence of Vitamin D deficiency evidence for autism disorder?: In a highly endogamous population 
To determine the association between Vitamin D and autism, and the difference in level of Vitamin D in autism children and control.
Case–control study conducted between June 2011 and May 2013, among autism at the Hamad Medical Corporation and controls at the School Health Clinics and Primary Health Care Clinics
Subjects and Methods:
A total of 254 cases and 254 controls. The Autism Diagnostic Observation Schedule-Generic is a semi-structured, standardized assessment of social interaction, communication, play and imaginative use of materials for individuals suspected of having autism spectrum disorders. Data on clinical manifestations and laboratory, family history, body mass index (BMI) and clinical biochemistry variables including serum 25-hydroxy Vitamin D, calcium, phosphorus and magnesium were obtained. Univariate and multivariate statistical analyzes were performed.
Of the total number of 508 children surveyed, 254 of autism and 254 of healthy children were contacted. The mean age (± standard deviation, in years) for autism versus control children was 5.51 ± 1.58 versus 5.76 ± 1.56. There were statistically significant differences between autism and healthy children control subjects with respect to educational level of mother (P = 0.016); occupation of mother (P = 0.005); BMI (P < 0.001); consanguinity (P = 0.015); exposure to sun (P = 0.002) and walking time per day <60 min (P < 0.001). The mean value of Vitamin D in autism children was much lower than the normal value, and there was a significant difference found in the mean values of Vitamin D between autism (18.39 ± 8.2 with median 18) and versus control children (21.59 ± 8.4) (P < 0.0001) and with median 21 (P = 0.004). Besides mean values of calcium, phosphorous, magnesium, glucose, potassium and alkaline phosphate were statistically significant higher in control healthy children compared to autism children (P < 0.001). Multivariate logistic regression analysis revealed that the mean serum Vitamin D level, calcium, consanguinity, BMI, physical activity, child order, and ferritin, were considered as the main factors associated with autism. Of total 254 of autism children, 14.2% had severe Vitamin D deficiency (<10 ng/ml), 43.7% had moderate insufficient levels (between 10 and 20 ng/ml), 28.3% had mild insufficient levels (between 20 and 30 ng/ml), and only 13.8% of autism had sufficient levels (>30 ng/ml). Similarly, of the total 254 of healthy children 8.3% had severe Vitamin D deficiency (<10 ng/ml), 37% had moderate insufficient levels (between 10 and 20 ng/ml), 37.4% had mild insufficient levels (between 20 and 30 ng/ml), and only 17.3% had sufficient levels (>30 ng/ml). Furthermore, there was statistically significant differences between autism and control subjects with respect to the serum level of Vitamin D (P = 0.023).
The present study revealed that Vitamin D deficiency was higher in autism children compared to healthy children and supplementing infants with Vitamin D might be a safe and more effective strategy for reducing the risk of autism.
PMCID: PMC4302541  PMID: 25624924
Association; autism; autism spectrum disorders; epidemiology; risk factors; Vitamin D
5.  Spontaneous dense array gamma activity in children and adolescents with volatile solvent dependence 
Children and adolescents with volatile solvent/inhalant dependence have neurocognitive deficits. The study aimed to explore resting state gamma activity, which is a marker of cognitive function, in children and adolescents with inhalant dependence. The study also investigated differences in gamma activity across groups differing in inhaled amounts.
Materials and Methods:
Clinical and electroencephalographic (EEG) data were collected from nine patients with inhalant dependence. 30–50 Hz spectral power was calculated using Welch's averaged periodogram method. The data were analyzed using descriptive statistics, bi-variate correlation, and nonparametric Mann–Whitney U-test.
While significant positive correlation was found between duration of dependence and gamma spectral power in left frontal region, no significant differences were found on comparison of the groups on gamma spectral power.
A complex neurobiological interaction is involved in the synaptic modulation brought about by inhalant use and this could be understood by studying changes in EEG parameters especially gamma activity.
PMCID: PMC4302542  PMID: 25624925
Children and adolescents; gamma band; spectral power; volatile solvents
6.  Epidemiology and treatment outcome of head injury in children: A prospective study 
Head injury in children is a major concern all over the world. The increasing level of poverty in the world is exposing more children to trauma situations. The future consequences of trauma in these children are enormous, hence prevention they say, is better than cure.
Aim of the Study:
The study was designed to determine the etiological pattern, age group affectation and treatment outcome in children managed for head injury in our center.
It was a prospective, descriptive and cross-sectional study of children with head injuries managed in our center from July 2010 to December 2013. Data were collected using structured proforma that was part of our prospective Data Bank approved by our hospital Research and Ethics Committee. Data were collected in accident and emergency unit, Intensive Care Unit, wards and out-patient clinic. The data was analyzed using Epi Info 7 software.
Total of 76 children managed by the unit and followed-up to a minimum of 3 months qualified for the study. There were 42 males. The age ranged from 7 months to 18 years with a mean of 8.66 years. There were 30 adolescent/teenagers. Road traffic accident formed 63.15%. Pedestrian accident was more among preschool and school children. Thirty-seven patients had mild head injury. Sixty-six patients were managed conservatively. The commonest posttraumatic effect was seizure (15.79%). Good functional outcome (≥4) was seen in 92.1%. Mode of accident and severity of injury affected the outcome.
The etiologies of traumatic brain injury, from our study, were age dependent with falls commonest in toddlers and pedestrian accident commonest in pre-school and school ages. The outcome of treatment was related to severity of injury.
PMCID: PMC4302543  PMID: 25624926
Children; epidemiology; head injury; outcome
7.  Secondary bicoronal synostosis after metopic craniosynostosis surgical reconstruction 
Re-synostosis after standard surgical procedures for nonsyndromic craniosynostosis is a rare event, which can occur at the same suture or rarely in adjacent sutures. Here, we report 2 patients with primary metopic craniosynostosis who developed bicoronal synostosis in previously opened sutures several months after surgery.
PMCID: PMC4302544  PMID: 25624927
Bicoronal; craniosynostosis; metopic; re-synostosis
8.  Silent neurenteric cyst with split cord malformation at conus medullaris: Case report and literature review 
Split cord malformations (SCM) are a common pediatric abnormality where children present with features of tethering and backache along with varying neurological deficits. Multiple neural tube defects may co-exist in children having defects of primary and/or secondary neurulation. Co-existent neurenteric cysts along with type 1 SCM have been described very rarely in the literature. We report a case of silent neurenteric cyst at conus medullaris with SCM type 1 where the cyst was missed in the preoperative imaging. Until date, only 8 such cases of neurenteric cysts with SCM at lumbar region have been reported. We review the literature regarding co-existing dual pathologies of neurenteric cysts and type 1 SCMs in light of limited capacity of imaging modalities to detect small neurenteric cysts in presence of co-existent neural tube defects. Multiple spinal neural tube defects in children need more attention and precise microneurosurgical skills as management differs in each of them. Co-existence of such pathologies detected intra-operatively may need modifications in preoperative planning to achieve the best possible outcomes.
PMCID: PMC4302545  PMID: 25624928
Conus medullaris; neurenteric cyst; split cord malformations
9.  Spondylocostal dysostosis with lipomyelomeningocele: Case report and review of the literature 
Spondylocostal dysostosis (SCDO) is rare anomaly caused due to flawed embryological development of the axial skeleton during preliminary stages of gravidity, characterized by malformed vertebral column and ribs, abridged thorax and kyphoscoliosis. This entity was also reported as a “Jarcho–Levin syndrome” eponym by erstwhile authors, before the introduction of genetic based classification. A literature review showed only three cases of this clinical entity with lipomyelomeningocele. We report the fourth case report of an infant with SCDO with lipomyelomeningocele. His chest X-ray displayed absent left side 6th–8th ribs with peculiar fan like configuration, making the heart vulnerable to any direct injury. Special care has to be taken for such patients who need surgical procedure in the prone position.
PMCID: PMC4302546  PMID: 25624929
Jarcho–Levin syndrome; lipomyelomeningocele; spondylocostal dysostosis
10.  Galactosemia and phantom absence seizures 
Generalized and focal seizures can rarely be seen in galactosemia patients, but absence seizures were not reported previously. An 18-year-old male was diagnosed as galactosemia at the age of 8 months. No family history of epilepsy was present. His absence seizures realized at the age of 9 years. Generalized 3-4 Hz spike-wave discharges were identified in his electroencephalography. Homozygous mutation at exon 6 c. 563A > G was identified. The electroencephalogram of his sibling was unremarkable. Our aim was to present the long-term follow-up of a patient diagnosed with galactosemia, who had phantom absence seizures and typical 3-4 Hz spike-wave discharges in his electroencephalogram to draw attention to this rare association.
PMCID: PMC4302547  PMID: 25624930
absence seizures; galactose-1-phosphate uridyl transferase enzyme deficiency; galactosemia
11.  Baraitser and Winter syndrome with growth hormone deficiency 
Baraitser–Winter syndrome (BWS), first reported in 1988, is apparently due to genetic abnormalities that are still not well-defined, although many gene abnormalities are already discovered and de novo missense changes in the cytoplasmic actin-encoding genes (called ACTB and ACTG1) have been recently discovered. The syndrome combines facial and cerebral malformations. Facial malformations totally or partially present in the same patient are: Iris coloboma, bilateral ptosis, hypertelorism, broad nasal bridge, and prominent epicanthic folds. The various brain malformations are probably responsible for growth and mental retardation. To the best of our knowledge, the syndrome is very rare as few cases have been reported so far. Our aim was to describe a child with a phenotype that looks like BWS with proved partial growth hormone (GH) deficiency which was not reported before. A girl aged 7-year-old of consanguineous parents was referred for short stature and mental retardation. Clinical examination showed dwarfism and a delay in her mental development. Other clinical features included: Strabismus, epicanthic folds, broad nasal bridge, and brain anomalies such as lissencephaly, bilateral hygroma, and cerebral atrophy. Hormonal assessment showed partial GH deficiency without other endocrine disorders. Our case looks exactly like BWS. However, apart from facial and cerebral abnormalities, there is a partial GH deficiency which can explain the harmonious short stature. This case seems worth to be reported as it adds GH deficiency to the very rare syndrome.
PMCID: PMC4302548  PMID: 25624931
Baraitser Winter syndrome; genetic disorder; poly malformations; growth hormone deficiency
12.  Intravascular papillary endothelial hyperplasia (Masson's tumor) of the scalp with intracranial extension 
Intravascular papillary endothelial hyperplasia (IPEH) (Masson's tumor) is an unusual benign vascular lesion of the skin and subcutaneous tissue, consisting of papillary formations related to a thrombus and covered by a single layer of plump endothelial cells. The lesion is often mistaken with angiosarcoma and a group of other benign and malignant vascular lesions. The clinical and radiological findings are not specific, and the diagnosis is based on the histological examination. Intracranial lesions are extremely rare with only 32 cases been reported in the literature. Only two cases of IPEH presenting as scalp swelling have been reported in the literature. We report a case of a 3-month-old boy with IPEH of scalp in the left parietal region, which was involving the skull bone and extending intracranially.
PMCID: PMC4302549  PMID: 25624932
Intravascular papillary endothelial hyperplasia; Masson's tumor; scalp swelling
13.  Scalp arteriovenous malformations in young 
Scalp arteriovenous malformations are an exceptional group of vascular lesions with curious presentations and an elusive natural history. Their detection in the pediatric population is a rarer occurrence. We discuss our experience with five children suffering from this pathology and their surgical management carried at our institution from 2007 to 2013. The genesis in pediatric patients is, usually, spontaneous in contrast with the history of trauma seen in adults. Clinical symptoms, usually, range from an asymptomatic lesion, local discomfort, headaches to necrosis and massive hemorrhage. Selective angiography remains the cornerstone for investigation. Complete surgical excision, embolization or an approach combining the modalities is curative.
PMCID: PMC4302550  PMID: 25624933
Angiography; arteriovenous malformation; pediatric; scalp; surgical excision
14.  Transorbital penetrating brain injury to frontal lobe by a wheel spoke 
Penetrating brain injury (PBI) is rare and the severest form of head injury with a high morbidity and mortality. A 3.5-year-old girl presented with PBI with a wheel spoke. Computerized tomography scan with three-dimensional skull reconstruction depicted its extent from the medial side of the roof of the right orbit to the right frontal lobe with a cavitation around the spoke. The spoke was removed by manipulation under general anesthesia from the entry site without a formal craniotomy. Postoperative outcome was uneventful.
PMCID: PMC4302551  PMID: 25624934
Frontal lobe injury; penetrating brain injury; wheel spoke
15.  Stridor in children: Is airway always the cause? 
Stridor in children is usually, but not always caused by airway pathology. The anesthesiologists should have a sound knowledge of the neurological associations of stridor and its management. In such cases, prompt treatment of the neurological pathology usually resolves the stridor and may prevent unnecessary airway evaluation and intervention in the child.
PMCID: PMC4302552  PMID: 25624935
Hydrocephalus; meningomyelocele; stridor; vocal cord palsy
16.  Periventricular nodular heterotopia, frontonasal encephalocele, corpus callosal dysgenesis and arachnoid cyst: A constellation of abnormalities in a child with epilepsy 
A 7-year-old male child presented with poorly controlled generalized tonic-clonic seizures. On examination, he was mentally retarded, deaf and had a swelling at the root on the nose. Computed tomography scan done previously revealed a left temporal arachnoid cyst (AC) due to which he was referred for surgery. However, magnetic resonance imaging revealed a constellation of abnormalities – all of which could be responsible for his seizures. The combination of periventricular nodular heterotopias with encepaholcele is rarely described in the literature, and more infrequently so its combination with AC and callosal dysgenesis – the Chudley-Mccullough syndrome. We describe the case and review relevant literature on this subject.
PMCID: PMC4302553  PMID: 25624936
Arachnoid cyst; Chudley-Mccullough syndrome; encephalocele; periventricular nodular heterotopia
17.  Idiopathic brachial neuritis in a child: A case report and review of the literature 
Brachial neuritis is a rare disease in children, affecting mainly the lower motor neurons of the brachial plexus and/or individual nerves or nerve branches. We report a case of idiopathic brachial plexus neuritis in a 2½-year-old female child admitted with acute respiratory distress and given antibiotic therapy following which she developed weakness of the left hand. She was diagnosed as a case of idiopathic brachial plexus neuritis and was given supportive care. Although, the association with antibiotic therapy in this case could be incidental, indeed it is intriguing and requires further studies.
PMCID: PMC4302554  PMID: 25624937
Autoimmune; brachial plexus neuritis; child
18.  Bilateral common peroneal nerve injury after pediatric cardiothoracic surgery: A case report and review of the literature 
Nerve injuries after thoracic and cardiovascular surgery have been reported but generally concern the brachial plexus, phrenic nerve, recurrent laryngeal, and facial nerve. Common peroneal nerve injury (CPNI) following cardiopulmonary bypass has been reported in adults (4); however bilateral injury is extremely uncommon. Age, low body weight, co-morbidities such as peripheral arteriosclerotic disease, diabetes mellitus, and arrhythmias were associated with CPNI following cardiothoracic surgery in adults. Common peroneal nerve injury (CPNI) following cardiopulmonary by-pass has been reported in adults; however, bilateral injury is extremely uncommon. The superficial course of CPN makes it vulnerable to traction or compression. We report a 5-year-old girl manifesting with bilateral CPNI following prolonged cardiopulmonary by-pass. To the best of our knowledge, she is the first pediatric patient presenting with bilateral CPNI following cardiothoracic surgery and cardiopulmonary by-pass.
PMCID: PMC4302555  PMID: 25624938
Bilateral peroneal nerve; cardiac surgery; children; injury
19.  Simple diagnosis of benign acute childhood myositis: Lessons from a case report 
Acute muscle pain and walking difficulty are symptoms compatible with both benign and severe degenerative diseases. As a consequence, in some cases invasive tests and hospitalizations are improperly scheduled. We report the case of a 7-year-old child suffering from acute calf pain and abnormal gait following flu-like symptoms. A review of the literature will be helpful to better define differential diagnosis in cases of muscle pain in children. Daily physical examination and urine dipstick are sufficient to confirm the diagnosis of benign acute childhood myositis (BACM) during the acute phase, to promptly detect severe complications and to rule out degenerative diseases. Children with BACM do not require hospitalization, medical interventions or long-term follow-up.
PMCID: PMC4302556  PMID: 25624939
Benign acute childhood myositis; children; differential diagnosis; myositis
20.  Antiretroviral treatment induced catatonia in 16-year-old boy 
We present a 16-year-old boy, who had presented to us with catatonic features of mutism, withdrawal, passive negativism, grimacing, gesturing, echopraxia, and excitement of 5 days duration while taking antiretroviral therapy (ART) for a period of 2 years. He had history of birth asphyxia and acquired HIV infection from his father when the same syringe and needle was used on both of them in a medical setting where the father and son had consulted for treatment of pyrexia of unknown origin. He was the eldest of a three children family in which the biologic father had acquired HIV through extramarital sexual contact with HIV-infected sex workers but was unaware of his HIV positive status till our patient, the 16-year-old was admitted and treated for pulmonary tuberculosis at 14 years of age. The boy's mother had only acquired HIV after having three children with the HIV-positive husband, thus leaving the other two children HIV negative. The catatonia completely resolved within 2 days after the ART was withheld, and risperidone 1 mg twice a day was prescribed. This case highlights the risks of ART and breach of universal precautions.
PMCID: PMC4302557  PMID: 25624940
Antiretroviral therapy; catatonia; HIV; olanzapine
21.  Percutaneous tapping for the treatment of sinusitis-related intracranial epidural abscess in children 
A 13-year-old boy with medically intractable sinusitis-related intracranial epidural abscess in the frontal region was treated using percutaneous tapping. Drainage of pus measuring 7 ml yielded excellent postoperative course without cosmetic disadvantage on the forehead. Percutaneous tapping is considered to be the ideal treatment because of minimal invasiveness and cosmetic aspects of the wound.
PMCID: PMC4302558  PMID: 25624941
Intracranial epidural abscess; minimally invasive treatment; percutaneous tapping; twist-drill technique
22.  Kocher-Debre-Semelaigne syndrome 
PMCID: PMC4302559  PMID: 25624942
25.  Benign external hydrocephalus 
PMCID: PMC4302562  PMID: 25624945

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