Journal of Pediatric Neurology - Volume 9, issue 1

Authors: Veerapandiyan, Aravindhan | Gallentine, William B. | Schoch, Kelly | Shashi, Vandana

Article Type: Research Article

Abstract: Epilepsy is found to be frequently associated with many chromosomal disorders. We describe a 5-year-old boy with recurrent absence seizures, developmental delay, hypomelanosis of Ito, facial asymmetry and mild dysmorphic features that has tissue specific trisomy 7 mosaicism. We compare our patient with the long term surviving patients of mosaic trisomy 7 reported to date in the literature to highlight that epilepsy is a common feature in this chromosomal condition. The wide phenotypic variability of mosaic …trisomy 7 is described. We conclude that a combination of epilepsy and hypomelanosis of Ito in a patient should prompt a clinician to think of chromosomal mosaicism, such as mosaic trisomy 7. Show more

Keywords: Trisomy 7, chromosomal mosaicism, seizures, epilepsy, hypomelanosis of Ito

DOI: 10.3233/JPN-2010-0442

Citation: Journal of Pediatric Neurology, vol. 9, no. 1, pp. 63-68, 2011

Authors: Kalane, Umesh D. | Kulkarni, Shilpa

Article Type: Research Article

Abstract: Tuberculosis (TB) is a necrotizing bacterial infection with protean manifestations. Skeletal TB accounts for 2–20% of all extra pulmonary cases in various studies and spinal TB is the most common form of skeletal involvement by TB (about half the cases of skeletal TB). It is predominantly a disease of the young adults. However, there is no exact data for its incidence in the pediatric population. Spinal TB is an unusual presentation before the age of 5 …years. Here we report three different presentations of spinal TB presenting in the very early age. Show more

Keywords: Spinal tuberculosis, Pott's spine, vertebral osteomyelitis

DOI: 10.3233/JPN-2010-0444

Citation: Journal of Pediatric Neurology, vol. 9, no. 1, pp. 69-73, 2011

Authors: Sahin, Derya Aydın | Sahin, Ertan | Sahin, Yasin | Yilmaz, Mustafa | Yilmaz, Kutluhan

Article Type: Research Article

Abstract: We report a 9-year-old boy with atypical presentation of subacute sclerosing panencephalitis (SSPE). He was admitted due to staring spells and cognitive deterioration. Electroencephalography (EEG) demonstrated bilaterally symmetrical, synchronous, frontal sharp-and-slow wave discharges in 80% of the record. Diazepam or midazolam administration during EEG recording attenuated the sharp-and-wave discharges, but revealed no periodic complexes. Magnetic resonance imaging delineated bilateral frontal T2-weighted hyperintense foci. Fluorodeoxyglucose-positron emission tomography imaging indicated …bilaterally decreased glucose metabolism in frontal cortex. The other laboratory tests including measles antibody in cerebrospinal fluid and serum suggested no specific etiology. Interestingly, a month later, the previously detected sharp-and-slow wave discharges disappeared, and periodic slow-wave paroxysms appeared on EEG recording. Measles antibody titers showed seroconversion and confirmed the diagnosis of SSPE. The present case suggests that clinicians be cautious while excluding SSPE. Show more

Keywords: SSPE, nonconvulsive status epilepticus, PET

DOI: 10.3233/JPN-2010-0435

Citation: Journal of Pediatric Neurology, vol. 9, no. 1, pp. 75-79, 2011

Authors: Kottiyath, Vivek C. | Singhal, Annu | Chowdhury, Veena | Singh, Sapna | Maller, Vinod G. | Sharma, Pranav

Article Type: Research Article

Abstract: We report brain magnetic resonance imaging findings in three infants who had severe neonatal hyperbilirubinemia, and presented later on with different neurological manifestations. Two children presented at 6~months of age with global developmental delay, dystonia and hearing impairment. The third child presented with developmental delay, nystagmus and superior gaze palsy at ten months of age. The history and clinical picture suggested sequelae of bilirubin encephalopathy (kernicterus). Magnetic resonance imaging of the brain …in all the patients revealed hyperintensity in bilateral globus pallidus on T2-weighted images. Increased apparent diffusion coefficient values were observed in the affected regions on diffusion-weighted imaging, which has not been reported previously. Show more

Keywords: Neonate, infant, kernicterus, MRI, DWI, ADC values

DOI: 10.3233/JPN-2010-0434

Citation: Journal of Pediatric Neurology, vol. 9, no. 1, pp. 81-85, 2011

Authors: McGoey, Robin R. | Conravey, Allison H. | Wong, Joaquin | Marble, Michael

Article Type: Research Article

Abstract: A female child with undiagnosed partial ornithine transcarbamylase deficiency suffered hyperammonemic coma after initiation of valproate for suspected seizures. Retrospective history and metabolic testing indicated ornithine transcarbamylase deficiency. This case, along with previous reports in children and adults, demonstrates the importance of a focused history and consideration of appropriate metabolic testing prior to implementation of valproate therapy especially in female patients.

Keywords: Valproate, hyperammonemic coma, ornithine transcarbamylase deficiency, carrier, inborn error of metabolism, urea cycle defect

DOI: 10.3233/JPN-2010-0436

Citation: Journal of Pediatric Neurology, vol. 9, no. 1, pp. 87-91, 2011

Authors: Mishra, Devendra | Jain, Rahul | Juneja, Monika | Chakrabarty, Bisroop

Article Type: Research Article

Abstract: Valproate associated hyperammonemic encephalopathy is a rare complication of valproate use, distinct from the more well-known valproate-induced hepatotoxicity with coma in young children, and the common finding of asymptomatic hyperammonemia associated with valproate use. We herein present a 21-month-old child with valproate associated hyperammonemic encephalopathy and discuss pertinent diagnostic and therapeutic issues for the pediatrician.

Keywords: Antiepileptic drugs, adverse drug reaction, child, encephalopathy, hyperammonemia, valproic acid

DOI: 10.3233/JPN-2010-0437

Citation: Journal of Pediatric Neurology, vol. 9, no. 1, pp. 93-95, 2011

Authors: Prasad, Rajniti | Mittal, Roopali | Mishra, Om Prakash

Article Type: Research Article

Abstract: A 13-year-old female child presented to us with enlargement of calf muscle of both lower limb and later diagnosed as hypothyroid myopathy i.e. Kocher-Debre-Semelaigne syndrome. She had extremely high levels of serum creatine phosphokinase. With thyroid replacement therapy, her creatine phosphokinase and myopathy resolved in 3 months.

Keywords: Hypothyroidism, myopathy, creatine phosphokinase

DOI: 10.3233/JPN-2010-0438

Citation: Journal of Pediatric Neurology, vol. 9, no. 1, pp. 97-99, 2011

Authors: İçağsıoğlu, Füsun Dilara | Atalar, Mehmet | Ayvaz, Adnan | Kaya, Ali

Article Type: Research Article

Abstract: Acute disseminated encephalomyelitis (ADEM) is usually a monophasic disease that may follow many infections or vaccines. Neuroimaging plays a key role in the differential diagnosis of ADEM. We reported a female patient with ADEM mimicking a mass lesion in the pons. On physical examination, the patient was drowsy but there were no signs of meningeal irritation. Initial magnetic resonance imaging revealed hyperintense signals on fluid attenuated inversion recovery and T2-weighted sequence over distal area of bilateral …mesencephalon and pons with involvement of cerebellar pedunculus. The patient was treated intravenous methylprednisolone for 3 days followed by oral prednisolone for another 7 days. The child remained ataxic for 20 days but recovered slowly following 4 months. At the 6th months of follow-up neurological findings of the patient completely recovered, physical examination was normal findings, and control magnetic resonance imaging scanning was also normal. It should be kept in mind that early diagnosis and appropriate treatment of the ADEM could prevent serious neurological sequelae and it is important to make differential diagnosis with other demyelinating diseases and intracranial mass. Show more

Keywords: Acute disseminated encephalomyelitis, child, cranial mass like lesion

DOI: 10.3233/JPN-2010-0441

Citation: Journal of Pediatric Neurology, vol. 9, no. 1, pp. 101-104, 2011

Authors: Ganjoo, Pragati | Panday, Bhuwan C. | Chawla, Rajiv | Tandon, Monica S. | Sharma, Ajay

Article Type: Research Article

Abstract: Jehovah's Witness (JW) is a religious Christian group whose members believe blood transfusion to be unholy and do not accept blood or its components, even if refusal of transfusion may prove to be life threatening. This belief is extended by them to their offspring too, despite the children being unaware of the implications of their parents' stand. A conflict arises between the parents' firm position against transfusion and the responsibility of the treating doctors towards the …safety of these children. It raises several ethical and medico-legal issues, besides requiring a modified treatment plan. While there are well-defined practice guidelines and legal directives on this subject in the west, there is a paucity of similar literature in many other countries including India leading to major transfusion related conflicts. The perioperative protocol for the surgical management of a JW patient is directed towards achieving bloodless surgery. An anemic child of JW parents underwent excision of an intracranial third ventricular mass without blood transfusion at our hospital. We present here our experience in managing this case using blood-saving surgical and anesthetic methods including a meticulous surgical technique and acute hypervolemic hemodilution. Show more

Keywords: Child of Jehovah's Witness parents, neurosurgery, bloodless surgery, transfusion alternative strategies

DOI: 10.3233/JPN-2010-0439

Citation: Journal of Pediatric Neurology, vol. 9, no. 1, pp. 105-107, 2011

Authors: Ardern-Holmes, Simone | Esrick, Erica | Degar, Barbara | Vergilio, Jo-Anne | Ullrich, Nicole J.

Article Type: Research Article

Abstract: Back pain is often reported in children undergoing cancer treatment, but is not typically a presenting symptom. Spinal cord compression secondary to myeloid sarcoma (chloroma) has been described, although is rare in children. We describe a 10-year-old child who presented with thoracic back pain, which progressed quickly to complete paraplegia prior to the diagnosis of myeloid leukemia. Neuroimaging demonstrated an extradural mass at level T6 to T10, requiring emergent laminectomy and posterior decompression. Histopathology of …this lesion was consistent with myeloid sarcoma while peripheral blood and bone marrow examination documented acute myeloid leukemia. He underwent treatment with multiagent chemotherapy and remains in remission. Increased recognition of ominous symptoms that suggest underlying pathology or signs of cord compression will lead to earlier diagnosis and, ultimately, minimize neurologic morbidity. Show more

Keywords: Acute myeloid leukemia, spinal cord compression, myeloid sarcoma

DOI: 10.3233/JPN-2010-0443

Citation: Journal of Pediatric Neurology, vol. 9, no. 1, pp. 109-113, 2011

Authors: Moghaddasi, Mehdi | Mamarabadi, Mansoureh | Ebrahimi, Ahmad | Tonekaboni, Seyed Hassan | Zainali, Sirous | Houshmand, Massoud

Article Type: Research Article

Abstract: Dravet syndrome is a severe form of epilepsy and also is called severe myoclonic epilepsy of infancy (SMEI). It appears during the first year of life with frequent febrile seizures, fever related seizures, which is rare beyond the age of 5 years. Children with SMEI typically experience poor development of language, motor skills, hyperactivity, and difficulty in making relationship. Thirty to eighty percent of patients with Dravet syndrome, which is known as classical form of SMEI, …suffer from defects in a gene involved in proper function of brain cells. The patient is a 3-years-old girl presenting with a sudden epileptic seizure. She had 2-year history of severe myoclonic epilepsy and developmental delay that was diagnosed as Dravet syndrome. A novel missense substitution in sodium channel alpha subunit type 1 was detected and the novelty of substitution confirmed by molecular analysis in healthy family members as well as control group. As an early diagnosis, the clinical screening procedure used by pediatricians as well as a sodium channel alpha subunit type 1 mutation analysis could help to predict Dravet syndrome before 1 year of age, so the pediatricians could be able to manage clinical work-up properly. Show more

Keywords: SMEI, Dravet, SCN1A

DOI: 10.3233/JPN-2010-0452

Citation: Journal of Pediatric Neurology, vol. 9, no. 1, pp. 115-118, 2011

Authors: Tungaria, Arun | Srivastav, Arun Kumar | Sahu, Rabi Narayan | Kumar, Raj | Mahapatra, Ashok K.

Article Type: Research Article

Abstract: Glioblastoma in young patient presenting as recurrent intracerebral hemorrhage is rare event, only few cases have been reported in world literature. Intratumoral bleeding can be the sole and first manifestation of glioblastoma in children. It is difficult to say that the events like dehydration and infection can precipitate such bleeding in tumor. It should be emphasized that possibility of tumoral bleeding should be kept in mind while evaluating young patient with spontaneous supratentorial intracranial …hemorrhage with negative angiogram and should be treated on an emergency basis. We are reporting a case of glioblastoma in a patient aged 17 years with clinical and radiological features suggestive of cortical venous thrombosis. Show more

Keywords: Glioblastoma, tumoral bleeding, children

DOI: 10.3233/JPN-2010-0451

Citation: Journal of Pediatric Neurology, vol. 9, no. 1, pp. 119-122, 2011

Authors: Bernard, Geneviève | Chouinard, Sylvain

Article Type: Research Article

Abstract: We wish to report a pediatric case of parkinsonism secondary to radiation therapy. The patient was diagnosed at the age of 16 years with a thalamic and midbrain dysgerminoma. After partial tumor resection, the patient received chemotherapy followed by radiation therapy. Two months after the initiation of the radiation therapy, without any evidence of tumor progression on imaging, the patient developed severe parkinsonism and encephalopathy requiring intensive care unit admission. With supporting measures, his level of …consciousness gradually improved but did not return to baseline. His parkinsonism remained severe despite high doses of levodopa-carbidopa and benztropine. Ten months later, without any significant modification of his medication, the patient's parkinsonism started to improve. Over the following 8 months, the improvement was so dramatic that the anti-parkinsonism medications could be weaned then stopped. Radiation-induced parkinsonism has been described on rare occasions in both the pediatric and adult populations. Our patient is the first case of early-delayed radiation-induced parkinsonism in the pediatric population. The evolution of his neurological status is surprising; after 10 months of static post radiation encephalopathy and severe parkinsonism, we would not have expected such good neurological improvement. Show more

Keywords: Secondary parkinsonism, radiation therapy, radiation-induced parkinsonism, post radiation encephalopathy and pediatric population

DOI: 10.3233/JPN-2010-0448

Citation: Journal of Pediatric Neurology, vol. 9, no. 1, pp. 123-126, 2011

Authors: Teber, Serap | Sezer, Taner | Kafalı, Mehpare | Deda, Gülhis

Article Type: Research Article

Abstract: Subacute sclerosing panencephalitis is almost always fatal with a varying clinical course of illness. It is characterized by slow progression and rarely manifests with a fulminant and rapid course. Atypical presentations such as generalized seizures, visual loss, hemiparesis, non-convulsive status epilepticus and isolated extrapyramidal symptoms can be observed rarely. We report an 11-year-old boy presenting with atypical symptoms initially such as complex partial seizures, chorea and electrographic status epilepticus. The patient was …lost within 5 months, which is suitable for a fulminant course. Children presenting with atypical acute or subacute neurologic symptoms should be examined for subacute sclerosing panencephalitis, especially if they have no risk factors for hereditary neurodegenerative and/or neurometabolic diseases. Show more

Keywords: SSPE, atypical presentation, chorea, non-convulsive status epilepticus

DOI: 10.3233/JPN-2010-0449

Citation: Journal of Pediatric Neurology, vol. 9, no. 1, pp. 127-130, 2011

Authors: Gupta, Priyanka | Faridi, Mohammad Moonis Akbar | Kumar, Raj | Jain, Kapil

Article Type: Research Article

DOI: 10.3233/JPN-2010-0440

Citation: Journal of Pediatric Neurology, vol. 9, no. 1, pp. 131-133, 2011

Authors: Flynn, Shelly

Article Type: Research Article

DOI: 10.3233/JPN-2010-0453

Citation: Journal of Pediatric Neurology, vol. 9, no. 1, pp. 135-135, 2011

Article Type: Other

DOI: 10.3233/JPN-2010-0454

Citation: Journal of Pediatric Neurology, vol. 9, no. 1, pp. 137-139, 2011