Journal of Pediatric Neurology - Volume 3, issue 4
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Journal of Pediatric Neurology is an English multidisciplinary peer-reviewed medical journal publishing articles in the fields of child neurology, pediatric neurosurgery, pediatric neuroradiology, child psychiatry and pediatric neuroscience.
Journal of Pediatric Neurology encourages submissions from authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, rapid communications, case reports, letters to the editor and book reviews. The aim of the journal is to share and disseminate knowledge between all disciplines that work in the field of pediatric neurology.
Abstract: We reviewed the etiologic aspects, clinical symptoms, complementary studies, differential diagnosis and treatment of alternating hemiplegia of childhood (AHC). AHC is an uncommon illness of uncertain pathophysiology that provokes crisis of transient hemiplegia affecting one hemibody or occasionally both at the same time. Clinical symptoms of AHC usually begin before the age of 18 months and in some cases may present in the neonatal period. Clinical symptoms include abnormal ocular movements such as nystagmus and dystonic…or tonic posturing. Hemiplegic attacks are not associated with alteration of consciousness. Hemiplegia may disappear after arousal and may reappear 10 to 20 minutes after arousal in children with AHC. The diagnosis of AHC is clinically made, and most of the clinically used diagnostic tests result in negative. The treatment of AHC includes flunarizine. It is necessary to suspect this diagnosis to identify patients with AHC.
Abstract: This prospective study was undertaken to focus on the clinicopathological aspects as well as the value of brain magnetic resonance imaging (MRI) in children suffering from mitochondriopathies. Thirty-one patients [15 males (48.4%) and 16 females (51.6%)] gathered from the neuropediatric and metabolic clinic of Cairo University Children Hospital were included in this study. All patients were subjected to a thorough history and a meticulous clinical examination, computerized tomography and (MRI), electromyography and…nerve conduction velocity. Muscle biopsies were performed in 18/31 patients and were subjected to both cytochrome c oxidase (COX) staining and electron microscopic (EM) examination. Laboratory tests including serum lactate and pyruvate, serum creatine kinase (CK), urine and plasma aminogram, urine organic acid profile, acyl carnitine profile, enzymatic analysis for arylsulfatase, galactocerebrosidase, very long chain fatty acids, acetyl aspartase were also performed when needed. Patients were classified according to their clinical phenotypes into: mitochondrial leukoencephalopathy (3/31), Leigh syndrome (7/31), neuropathy, ataxia and retinitis pigmentosa (2/31), mitochondrial encephalomyopathy (6/31), Leber's hereditary opticneuropathy (4/31), mitochondrial encephalopathy, red ragged fibers (MERRF) (1/31). Mitochondrial encephalopathy, lactic acidosis (MELAS) (1/31), familial dystonia (4/31), and mitochondrial myopathy (3/31). The main neurological manifestations in their order of frequency were global developmental delay (20; 64.5%), spasticity (16; 51.6%), hypotonia (12; 38.7%), convulsions (10; 32.3%), sensory neural deafness (7; 22.6%), dystonia (7; 22.6%) optic atrophy (5; 16.1%), proximal muscle weakness (3; 9.7%), retinitis pigmentosa (2; 6.5%) and ataxia (2; 6.5%). Electromyography and nerve conduction study were normal in 18/31 (58%), myopathic in 7/31 (22.6%) and neuropathic in 6/31 (19.4%) patients. CK was significantly increased in only 3/31 (9.7%) patients. The main MRI findings were basal ganglia abnormalities appearing as bilateral and symmetrical high signal intensity lesions on T2 weighted MRI (11/28; 39.3%). Magnetic resonance spectroscopy (MRS) was performed in 7 patients and all were showing an increase lactate peak. EM examination revealed a subsarcolemmal aggregation of mitochondria in (12/18; 66.7%) and or a large and bizarre shaped mitochondria in (8/18; 44.4%), nonspecific myopathic changes in (3/18; 16.7%). Histochemical analysis of muscle biopsies using COX staining revealed a COX- vein (5/11; 45.5%), COX +vein (6/11; 54.5%), and myopathic changes in (3/18; 16.7%) patients. In conclusion, MRI and MRS are proved a promising tool in the diagnosis of mitochondrial cytopathies. MRS is a sensitive, non-invasive tool to evaluate the pathological lactate production in metabolic brain disease with disturbed energy production.
Keywords: Mitochondrial cytopathies, brain MRI, MRS, muscle biopsy, cytochrome c oxidase, electron microscopy
Abstract: To screen children with idiopathic mental retardation (MR) using a clinical Ten-Item Checklist (TIC) and to analyze high-risk fragile X syndrome (FXS) cases by cytogenetic and molecular genetic techniques. This study was conducted on 192 children with idiopathic MR enrolled from Pediatric clinics of University Hospitals and MR institutes of Alexandria, Mansoura and Benha Governorates, Nile Delta, Egypt (age range 2–14 years). Clinical scoring for patients was done using TIC according to which patients were categorized…either positive checklist with score higher than 5 or negative with score less than 5. Positive cases underwent cytogenetic analysis that provoke expression of fragile sites on chromosome X and molecular genetic analysis for detection of permutation among cases or their 1st degree relatives. Analyzing all cases: IQ ranged from 30 to 80%, family history of MR was found in 28.6% and consanguinity was positive in 26%. Positive checklist cases constituted 23.9% and remainder 76.1% were negative checklist. The most frequent items in positive cases were large prominent ears, hyper-extensible finger joints, hyperactivity, and large narrow face with less common macro-orchidism. A positive linear association was found between laboratory test positivity and TIC score being stronger with cytogenetic analysis compared to polymerase chain reaction (PCR) (P 0.001 and 0.02, respectively). Using TIC, 76.1% cases could be eliminated from the waiting list of genetics laboratories. The relatively weaker association of TIC score to PCR compared to cytogenetic analysis together with areas under receiver operating characteristic curve 0.743 and 0.814 respectively denote the higher accuracy and sensitivity of PCR analysis in final diagnosis of FXS.
Keywords: Fragile X syndrome, cytogenetics, molecular genetics, Egypt
Abstract: Kluver-Bucy syndrome (KBS) includes increased oral exploration, placidity, indiscriminate hypersexuality and altered dietary habits, reported to develop following insult to temporal lobes. Psychic blindness (inability to recognize familiar objects) and hypermetamorphosis (strong tendency to react to visual stimulus) are other constituents of this neurobehavioral syndrome. We encountered 12 children with features of KBS among cases of delayed mental and motor milestones following cerebral birth anoxia consequent to hypoxic-ischemic encephalopathy. Period of the…study was 11 years (January 1994–June 2004). Diagnosis of hypoxic-ischemic encephalopathy was based on birth records, pediatricians' report, history provided by mother or relatives, clinical and radiological features. Their age ranged between 6 and 14 years. Development of hyperorality, sexual hyperactivity and abnormal behavior suggested the presence of KBS in them. Hyperorality and abnormal behavior were common manifestations in all patients. Hyperorality was in form of an attempt to put non-edible substances in mouth, while abnormal behavior manifested as hostility, irritability or placidity. Hypersexuality was evident in seven children and presented as fondling, holding or rubbing the genitals along with paroxysmal pelvic thrusting. Seizures were present in eight patients. In five of these, they were well-controlled (more than 60% decline in frequency), with improvement in behavior in three of them, following control of seizures. In other patients, behavior was unaltered. It appears that KBS may be more common than was suspected previously in children of cerebral birth anoxia consequent to hypoxic ischemic encephalopathy. Though it may manifest with a wide clinical spectrum, hyperorality is its commonest constituent. Seizures are commonly associated and their control may help in improving the behavioral disorder.
Abstract: Carbamazepine (CBZ) is a commonly used anticonvulsant agent, but it has been linked with different blood cell abnormalities. This study tried to determine some of the risk factors associated with CBZ-induced leukopenia in pediatric and adolescent age group. This nested-cohort study was conducted on children and adolescents with epilepsy who received CBZ monotherapy. They included 41 patients with epilepsy. From all of the patients, baseline blood tests were obtained before starting medication and then serially. The…patients were followed for at least one year. Thirteen patients (31.7%) developed leukopenia in follow-up blood tests. In one patient CBZ was discontinued after six months due to the occurrence of significant neutropenia. Four factors were associated with CBZ-induced leukopenia in these patients. The first factor was gender; leukopenia was more common among girls (P=0.018). The other factors were lower white blood cell counts, lower neutrophil counts and lower monocyte counts in the first complete blood count, before starting CBZ. It is very important to have a complete blood cell count in everyone before treatment with CBZ is started. Thereafter, the frequency of blood monitoring can be determined on an individual basis. It is reasonable to be very careful and follow the patient repeatedly and closely when deciding to start CBZ in a girl with borderline low white blood cells, neutrophil or monocyte count.
Abstract: Multiple sclerosis (MS) is an inflammatory, demyelinating disease of the central nervous system of unknown etiology. In the acute phase, MS is treated with corticosteroids, whereas drugs, such as interferon-beta and glatiramer acetate, are currently used as continuous immunomodulatory therapies. Recently, the cytostatic drug mitoxantrone was reported to be well tolerated and therapeutically effective in deteriorating MS in adults. Under the concept of an escalating therapy regimen, we addressed if mitoxantrone could…decrease the frequency of relapses and stabilize the course of the disease not only in adults but also in children. Two adolescents (female 13 yrs.; male 14 yrs.) with deteriorating relapsing-remitting MS were selected after various immunomodulatory treatments had failed before. After informed consent had been obtained from the parents and the patients, we administered mitoxantrone intravenously in three-month intervals for 3.5 years and 12 months, respectively. Therapy with mitoxantrone was well tolerated in both patients. In the female patient a decrease in the number of relapses, and an improvement in clinical disability as measured by the Expanded Disability Status Scale was observed. In the male patient, a stabilization of the clinical course was achieved. We conclude that treatment with mitoxantrone could be considered in children with deteriorating MS when other therapeutic agents have failed. However, controlled studies in the pediatric age group are needed in order to assess the benefit of this chemotherapeutic agent and to rule out long-term adverse effects.
Abstract: Pyrexia associated recurrent familial cerebellar syndrome is reported. Three members in the family (father and his two sons) had this condition. All these used to get features of cerebellar dysfunction on having fever and the features would disappear when the fever came down. No known causes were found on detailed investigations in one of the attacks. This type of recurrent cerebellar syndrome associated with pyrexia is not reported before.
Abstract: Mitochondrial disorders, once thought to be relatively rare, are now thought to be the most prevalent metabolic disease. They represent a challenge to clinicians, especially in children, in whom clinical presentation and course show enormous variation. We report a respiratory chain enzyme activity disorder (complex I, III and IV) in a girl, with a severe presentation since the perinatal period. An older female sibling had died at the age of 11 months from an encephalopathy, with…a similar clinical presentation. Enzyme activity disorders could not been disclosed. This association has been described only rarely. Mitochondrial disorders associated with defects in the respiratory chain can be attributable to mutations in the mitochondrial genome (mitochondrial DNA) or the nuclear genome (nuclear DNA). The diagnosis is based on the presence of clusters of abnormal mitochondria in muscle cells and a biochemically defined defect in the respiratory chain enzymes or, more recently, also on mutations in the mitochondrial DNA. In our case muscular biopsy to assess enzymatic activity of the respiratory chain complexes disclosed defects in respiratory chain complexes I, III and IV (cytochrome c oxidase). The patients, as our case, usually present early in life and are more severely affected than patients with isolated complex deficiencies. Therapy remains largely ineffective.
Keywords: Mitochondrial disorders, family, clinical features
Abstract: A 7-year-old girl presented with swallowing and respiratory difficulty necessitating artificial ventilation. Her cranial magnetic resonance imaging revealed T2 hyperintensity in the brainstem and cerebrospinal fluid polymerase chain reaction was positive for Coxsackie B4 virus infection. She improved spontaneously by one month. Six months later, she was readmitted with features of primary hypothyroidism and neuromyelitis optica. She improved following corticosteroid and levothyroxine treatment. After 8 months, she had another attack of neuromyelitis…optica following withdrawal of prednisolone. Cranial magnetic resonance imaging, cerebrospinal fluid oligoclonal band and vasculitis profile were negative during this attack. She improved following a course of methyl prednisolone. This association of neuroendocrinal manifestations may be due to immunological alterations triggered by Coxsackie B4 virus infection.