Early onset epileptic encephalopathies (EOEE) are severe disorders characterized by several seizure types, frequent epileptiform activity on EEG, and developmental slowing or regression during the neonatal or early infantile periods. They include Ohtahara syndrome, early myoclonic epileptic encephalopathy and malignant migrating partial seizures of infancy and other undetermined syndromes.

Colloid cysts are congenital benign lesions constituting 1% of CNS tumors. Pediatric colloid cysts are rare lesions compared with adults. These are more common in the third and fifth decade. Their occurrence in the pediatric age group is less commonly seen. These pediatric colloid cysts have aggressive and varied behavior than in adults. They are non-neoplastic true epithelium lined cysts of the central neuraxis. They may be totally asymptomatic or may manifest with symptoms of raised intracranial pressure. The symptoms may be intermittent, self-limiting, and nonspecifically apparent when the foramen of Monro is blocked temporarily by pendulous movement of the cyst or may be acute and severe presenting with acute hydrocephalus, brain herniation, and sudden death. Pediatric colloid cysts have rarely been reported. We report A 4-year-old boy with the history of headache, anorexia, over sleeping and vomiting was referred to our emergency to undergo a brain CT scan. CT images demonstrated a well-defined, rounded, hyper-dense lesion at the level of the foramen of Monro causing moderate dilatation of the lateral ventricle. The findings from imaging perspective were consistent with the colloid cyst of the third ventricle. Therefore, the diagnosis of the colloid cyst was made. Early detection and total excision of the lesion is a permanent cure with minimum morbidity.

A 3 yrs old girl presented with unilateral facial erythema and sweating after gustatory stimuli. She had history of mycoplasma and Brucella infection. She developed left facial palsy that has been resolved. She received antibiotics and corticosteroids. CT scan and MRI brain were normal. Interestingly, the child fulfill the clinical diagnosis of Frey syndrome. Frey's syndrome is characterized by unilateral sweating and flushing of the skin in the area of the parotid gland, occurring during meal, or on salivary stimulation. It is a common complication following surgery/injury in the parotid gland region/temporomandibular joint surgery; however, very few cases had been reported following herpetic infection. The condition may be misdiagnosed as contact dermatitis or food allergy, but these can be excluded by the normal skin texture and typical unilateral distribution on the pre-auricular area and cheek. The diagnosis is made on clinical grounds, and further testing is not needed. It is important for the clinician to recognize its unusual symptoms as early as possible to prevent its potential negative social and psychological effect on the patient. Mycoplasma infection, as in this case, is a rare cause of Frey’s syndrome. Here we highlight the importance of considering Frey syndrome in these cases as Patients can be reassured of the benign nature of the condition and that symptoms usually resolve spontaneously in children.

Troyer Syndrome (TRS) is a rare autosomal recessive complicated spastic paraplegia disorder characterized by various neurological and musculoskeletal manifestations. Pathogenicity stems from mutations in SPG20 which encodes Spartin, a multifunctional protein that is thought to be essential for neuron viability. Here we report on the clinical and molecular characterization of TRS in five patients from an extended consanguineous family in the United Arab Emirates. Molecular analysis involved Whole Exome Sequencing and Sanger sequencing for identification and confirmation of the causative variant respectively. In silico tools including CADD and Polyphen-2 were used to assess pathogenicity of the variant. The clinical description of these patients included spastic paraparesis, motor and cognitive delay, gait abnormalities, musculoskeletal features, as well as white matter abnormalities and emotional liability. Molecular analysis revealed a novel homozygous missense mutation in SPG20 (c.1324G > C; p.Ala442Pro) occurring at an evolutionarily conserved residue in the Plant-Related Senescence domain of Spartin. The mutation segregated with the clinical phenotype in all patients. In silico algorithms predict the mutation to be disease causing, and the variant had not been previously reported in public or ethnic specific variant repositories.

The WDR62 gene encodes a scaffold protein of the c-Jun N-terminal kinase (JNK) pathway. It plays a critical role in laying out various cellular layers in the cerebral cortex during embryogenesis, and hence the dramatic clinical features resulting from WDR62 mutations. These mutations are associated with autosomal recessive primary microcephaly 2, with or without cortical malformations (MCPH2). Using whole exome sequencing we uncovered a novel WDR62 variant; c.390G>A, from two Sudanese siblings whose parents are first cousins. The patients suffered MCPH2 with incomplete lissencephaly and developmental delay. The mutation affects the last nucleotide of exon4, and probably leads to aberrant splicing, which may result in a truncated protein lacking all functional domains.

Epilepsy is a common neurological disorder in childhood. In a majority, the cause of epilepsy remains a mystery in spite of extensive investigations. The aim of drug treatment is to effectively stop the seizures with minimum of side effects, causing no impairment of long term learning abilities of the child. Up to 30% of children with epilepsy may continue to have seizures in spite of adequate drug therapy. In this review, an overview of the recent advances that affect the diagnosis, prognosis and therapy of childhood epilepsy including the dilemmas of everyday practice is presented.

BACKGROUND:Hereditary spastic paraplegia (HSP) are classified clinically as pure when progressive spasticity occurs in isolation or complicated when other neurologic abnormalities are present. At least 22 genetic loci have been linked to HSP, 8 of which are autosomal recessive (ARHSP). HSP complicated with the presence of thin corpus callosum (HSP-TCC) is a common subtype of HSP. One genetic locus has been identified on chromosome 15q13-q15 (SPG11) for HSP-TCC, but some HSP-TCC families have not been linked to this locus.METHODS:The authors characterized two families clinically and radiologically and performed a genome-wide scan and linkage analysis.RESULTS:The two families had complicated ARHSP. The affected individuals in Family A had thin corpus callosum and mental retardation, whereas in Family B two of three affected individuals had epilepsy. In both families linkage analysis identified a locus on chromosome 8 between markers D8S1820 and D8S532 with the highest combined lod score of 7.077 at marker D8S505. This 9 cM interval located on 8p12-p11.21 represents a new locus for ARHSP-TCC. Neuregulin and KIF13B genes, located within this interval, are interesting functional candidate genes for this HSP form.CONCLUSION:Two consanguineous families with complicated autosomal recessive hereditary spastic paraplegia were clinically characterized and genetically mapped to a new locus on 8p12-p11.21.

Objective: This study aimed to determine the clinical, electroencephalographic, and radiological factors associated with medically intractable seizures in children in the Al Ain Medical District in the United Arab Emirates. Methods: This work used a prospective case-control study of children referred to pediatric neurology and neurodevelopmental clinics at Tawam and Al Ain University Hospitals. Results: There were 55 children with intractable epilepsy; their data were compared with 50 children who responded well to antiepileptic drugs and who were seizure-free for at least 2 years. Onset < 1 year of age, a high seizure frequency at onset, positive history of neonatal seizures, developmental delay and status epilepticus, neurological deficits, and abnormal brain imaging results were found to be significantly more common in the study group. Symptomatic localization-related epilepsy was more common in children in this group than in the control group. Conclusion: Our study suggests that children who present with idiopathic localization-related and generalized epilepsy syndromes with few seizures at onset and with no neurological deficits tend to have a relatively good prognosis. (C) 2006 Published by Elsevier Inc.

Objective: Developmental disabilities are lifelong conditions with considerable public health impact, incurring substantial financial and societal costs. Data on prevalence and associated factors can provide the basis for setting priorities and designing interventions. Methods: A representative random sample of 694 United Arab Emirates national children aged 3 years were evaluated in a two-stage epidemiological study. Results: Stage 1 screening using the Denver Developmental Screening Test found that 8.4% [confidence interval (CI): 6.4-10.7] had global developmental delay (GDD). Using clinical diagnostic interview in Stage 2, the weighted prevalence for clinically significant developmental disability was estimated to be 2.44% (CI: 1.28-3.56). GDD was associated with pregnancy and birth complications, poor maternal education, family history of developmental problems, and major traumatic life events, as well as behavioral problems in children. Conclusion: Our findings suggest the need for comprehensive and early screening programs for developmental problems, and the importance of training medical and child care professionals accordingly. (C) 2006 Elsevier Inc. All rights reserved.

Two unrelated children and their siblings of Arab origin were diagnosed as having GM1 gangliosidosis on the basis of clinical features and markedly low levels of β-galactosidase. The T2-weighted magnetic resonance images of the brain revealed certain characteristic features, including delayed myelination and abnormal appearance of the subcortical white matter, internal capsule, and basal ganglia. Their mutation analysis showed two novel mutations, which have not been described in an Arabic population. (J Child Neurol 2005;20:57—60).

Children with seizures may also have behavioral problems including hyperactivity. The management of hyperactivity in these cases is complicated by the fact that pharmacotherapeutic interventions may worsen the seizures. In this study 10 children with epilepsy and attention deficit hyperactivity disorder were treated with risperidone in an open label fashion. The dose was titrated up from 0.5 mg to a maximum of 3 mg per day based on clinical efficacy and tolerability. Clinical improvement was noted in all the 10 patients. Tiredness was reported by one patient, and drowsiness by another, but none experienced extra pyramidal side effects. Furthermore, there were no untoward effects on the frequency or intensity of the seizures. Our findings suggest that risperidone in combination with anticonvulsant medication is safe and effective in treating children with seizures and hyperactivity. Controlled studies are needed to determine long-term efficacy and safety of this drug in this special population.

In a child with hydranencephaly and refractory seizures, the electroencephalogram showed a flat isoelectric pattern with no significant slow waves or epileptiform activity; cranial computed tomography, magnetic resonance imaging, Doppler vascular scanning, and single photon emission computed tomography (SPECT) were done to define the pathogenesis of the seizures. The investigations were suggestive of a lack of significant cortical, subcortical, or thalamic structures with hypoplasia of the vermis and cerebellum. SPECT showed little activity in the base of the brain and cerebellum. The cause of the seizures remained unclear in spite of the investigations.

We describe two children with left hippocampal dysgenesis in association with temporal lobe hypoplasia and arachnoid cyst of the middle cranial fossa. The hippocampus showed an abnormal globular shape and blurred internal structure in both patients. One of the patients had juvenile myoclonic epilepsy without evidence of seizure onset in the abnormal temporal region. The other patient did not have epilepsy; however, he showed developmental language disorder with a probable relationship to the left temporal abnormalities. (J Child Neurol 2005;20:926—930).

Background: Risperidone is a novel antipsychotic drug that has been tried in the treatment of several child psychiatric disorders.In an open clinical study, we evaluated the safety and efficacy of risperidone in children with developmental disorder and behavioral problems including attention-deficit/hyperactivity disorder (ADHD).Method: Twelve patients aged 4 to 14 years who had a DSM-IV-diagnosed developmental disorder and ADHD in addition to other behavioral problems, in particular aggression, were treated with risperidone for a period of up to 2 years with daily doses ranging from 1 to 3 mg.Data were gathered from December 2002 to December 2004.Results: A positive clinical response was noted in 9 of the 12 patients within 3 months of study recruitment according to the Clinical Global Impressions-Improvement scale.Risperidone was well tolerated by all 12 patients.The most commonly reported side effect was sedation, which necessitated dosage reduction in 2 patients, but not discontinuation.Conclusions: Our findings suggest that risperidone may be an effective and safe treatment for children and adolescents with developmental disorder and disruptive behaviors.

GM1‐gangliosidosis is a lysosomal storage disorder caused by a deficiency of β‐galactosidase. It is mainly characterized by progressive neurodegeneration and in its most severe infantile form it leads to death before the age of four. We have performed molecular analysis of five patients with the infantile form of GM1‐gangliosidosis originating from the Middle East (two from Saudi Arabia and three from the United Arab Emirates). We have identified four novel mutations and one previously reported mutation in the GLB1 gene. The first novel mutation found in the homoallelic state in a patient from Saudi Arabia, is a c.171C>G transversion in exon 2 which creates a premature stop codon. Northern blot analysis in fibroblasts from the patient showed no mRNA and expression studies in COS‐1 cells showed complete absence of the 85kDa precursor protein and no catalytic activity. The second novel mutation is a splicing error in intron 2, c.245+1G>A. This mutation was found in the heteroallelic state in a patient from Saudi Arabia, the second mutation being the previously described c.145C>T mutation. The third novel mutation is a missense mutation in exon 4, c.451G>T, found in the homoallelic state in a patient from the United Arab Emirates. Expression studies of this mutation in COS‐1 cells showed complete absence of the 85kDa precursor protein and no catalytic activity. The fourth novel mutation is a splicing mutation in intron 8, c.914+4A>G, found in the homoallelic state in two siblings from the United Arab Emirates. This study has revealed genetic heterogeneity of the â‐galactosidase deficiency in the Arabic population. © 2004 Wiley‐Liss, Inc.

Primary microcephaly is a heterogeneous group of cerebral malformations either with a relatively well-preserved or an abnormal gyral pattern. We describe the MRI findings and clinical features of 14 children with the combination of microcephaly and an abnormal gyral pattern. All children except one were Arabs and nine out of the 14 patients were born to consanguineous parents. Seven patients showed features of a simplified gyral pattern with relatively preserved posterior fossa structures. Two boys had a cortical malformation in the agyria-pachygyria spectrum; one of these two patients showed agenesis of the corpus callosum and severe cerebellar hypoplasia as well. The microcephaly was associated with polymicrogyria and leukoencephalopathy in two patients, with cortical dysplasia and hypogenesis of the corpus callosum in one patient, with agyria-pachygyria with callosal and pontocerebellar dysplasia in one patient, and a simplified gyral pattern with severe cerebellar hypoplasia in one case. One patient died in the neonatal period and three in infancy. All patients, who survived the neonatal period, had developmental delay, intellectual disability, and neurological deficits, and nine suffered from epilepsy.

Joubert syndrome (JS) is an autosomal recessive disorder marked by agenesis of the cerebellar vermis, ataxia, hypotonia, oculomotor apraxia, neonatal breathing abnormalities, and mental retardation. Despite the fact that this condition was described >30 years ago, the molecular basis has remained poorly understood. Here, we identify two frameshift mutations and one missense mutation in the AHI1 gene in three consanguineous families with JS, some with cortical polymicrogyria. AHI1, encoding the Jouberin protein, is an alternatively spliced signaling molecule that contains seven Trp-Asp (WD) repeats, an SH3 domain, and numerous SH3-binding sites. The gene is expressed strongly in embryonic hindbrain and forebrain, and our data suggest that AHI1 is required for both cerebellar and cortical development in humans. The recently described mutations in NPHP1, encoding a protein containing an SH3 domain, in a subset of patients with JS plus nephronophthisis, suggest a shared pathway.