TORTICOLLIS CAUSED BY NEUROENTERIC CYST OF UPPER CERVICAL REGION

Objective:Torticollis is a symptom that can be related to different pathological mechanisms ranging from simple to life-threatening conditions. Here we report a child with torticollis caused by a neuroenteric cyst in the upper cervical region; this is a very rare condition in childhood and  in this case, it was successfully resolved by surgery.Clinical presentation:A 2.5 year old boy presented with a 2 month-history of torticollis, he had developed paraparesia 2 weeks before admission. At examination he was found to be quadriparetic. Radiographic study of  the cervical spine revealed widening of the cervical canal. Brain and spinal magnetic resonance imaging revealed a hypointense lesion on the T1 at the craniovertebral junction having a  compressive effect on the anterior aspect of the brain stem and spinal cord.Intervention:The patient underwent surgery. After craniotomy and opening of the dura, a cystic lesion was seen; clear fluid was aspirated and the cyst wall was removed.Conclusion:Considering the quadriparesis and torticollis, the patient improved significantly within the first few days after surgery. No relapse of symptoms occurred during the follow up period. This is the first case report of a child in whom torticollis was due to a neuroenteric cyst of the upper cervical intradural region.Keywords:Torticollis - Neuroenteric cyst - Child - Quadriparesi

ROSA DAMASCENA OIL: AN ADJUNCTIVE THERAPY FOR PEDIATRIC REFRACTORY SEIZURES

ObjectiveSeveral investigations have demonstrated that Rosa damascena has an inhibitory effect on the hypothalamus and on pituitary system reactivity in the rat; it has also been shown that the essential oil of Rosa damascena has significant antiepileptic effects on pentylentetrazole (PTZ) induced seizures in rats. We aimed at assessing the effects of the essential oil of Rosa damascena when used as an adjunct treatment to treat children with refractory seizuresMaterials and MethodsIn this double-blind clinical trial, conducted as a pilot study between April 2004 and March 2005, we administered essential oil of Rosa damascena to sixteen children with refractory epilepsy as an adjunct therapy, and evaluated its effects.Results16 patients, age range 3-13 years, were enrolled; 56.3% (n=9) girls and 43.8% (n=7) boys. All has been under treatment for 3-6 weeks (baseline phase). They received either the essential oil or placebo for a period of 4 weeks and in between these periods, they took only their pre-existing antiepileptic drugs for two weeks (washout phase).The mean frequency of seizures in those using essential oil, showed significant decrease as compared to the controls using placeboes (p=0.00).ConclusionIt can be concluded that the essential oil of Rosa Damascena has beneficial antiepileptic effect in children with refractory seizures.Keywords:Rosa damascena, refractory epilepsy, children, oil

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

Developmental and epileptic encephalopathy 35 (DEE 35) is a severe neurological condition caused by biallelic variants in ITPA, encoding inosine triphosphate pyrophosphatase, an essential enzyme in purine metabolism. We delineate the genotypic and phenotypic spectrum of DEE 35, analyzing possible predictors for adverse clinical outcomes. We investigated a cohort of 28 new patients and reviewed previously described cases, providing a comprehensive characterization of 40 subjects. Exome sequencing was performed to identify underlying ITPA pathogenic variants. Brain MRI (magnetic resonance imaging) scans were systematically analyzed to delineate the neuroradiological spectrum. Survival curves according to the Kaplan–Meier method and log-rank test were used to investigate outcome predictors in different subgroups of patients. We identified 18 distinct ITPA pathogenic variants, including 14 novel variants, and two deletions. All subjects showed profound developmental delay, microcephaly, and refractory epilepsy followed by neurodevelopmental regression. Brain MRI revision revealed a recurrent pattern of delayed myelination and restricted diffusion of early myelinating structures. Congenital microcephaly and cardiac involvement were statistically significant novel clinical predictors of adverse outcomes. We refined the molecular, clinical, and neuroradiological characterization of ITPase deficiency, and identified new clinical predictors which may have a potentially important impact on diagnosis, counseling, and follow-up of affected individuals

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

Developmental and epileptic encephalopathy 35 (DEE 35) is a severe neurological condition caused by biallelic variants in ITPA, encoding inosine triphosphate pyrophosphatase, an essential enzyme in purine metabolism. We delineate the genotypic and phenotypic spectrum of DEE 35, analyzing possible predictors for adverse clinical outcomes. We investigated a cohort of 28 new patients and reviewed previously described cases, providing a comprehensive characterization of 40 subjects. Exome sequencing was performed to identify underlying ITPA pathogenic variants. Brain MRI (magnetic resonance imaging) scans were systematically analyzed to delineate the neuroradiological spectrum. Survival curves according to the Kaplan-Meier method and log-rank test were used to investigate outcome predictors in different subgroups of patients. We identified 18 distinct ITPA pathogenic variants, including 14 novel variants, and two deletions. All subjects showed profound developmental delay, microcephaly, and refractory epilepsy followed by neurodevelopmental regression. Brain MRI revision revealed a recurrent pattern of delayed myelination and restricted diffusion of early myelinating structures. Congenital microcephaly and cardiac involvement were statistically significant novel clinical predictors of adverse outcomes. We refined the molecular, clinical, and neuroradiological characterization of ITPase deficiency, and identified new clinical predictors which may have a potentially important impact on diagnosis, counseling, and follow-up of affected individuals