Presentation
In the present case, a similar congenital anomaly in the form of the left ectopic (left iliac fossa) and malrotated kidney was present. [jmedscindmc.com]
We present here a paediatric case. [orbi.uliege.be]
Affected females present with seizures in their teenage years. Females may also present with cardiovascular defects, such as patent ductus arteriosus, bicuspid aortic valve and dilation of the aorta. [preventiongenetics.com]
These structures were not present in all nodules and were not present in the matched healthy control infant. [pubs.rsna.org]
Psychiatrical
- Behavior Disorder
At the age of 15 she was admitted in the department of Psychiatry for depression and behavioral disorder (irritability and aggressive behavior) and she was treated with selective serotonin reuptake inhibitors (this happens frequently showed a small study [revmedchir.ro]
Workup
After an extensive workup, including STATISCOM (statistical ictal SPECT coregistered to MR imaging), the patient underwent cortical stimulation with improvement in her movement disorder. [thejns.org]
Although rare, gray matter heterotopias may present as movement disorder and should be considered in differential diagnosis while workup of movement disorders. [jmedscindmc.com]
Medical workup should therefore also include attention for clinical signs of impaired respiratory function. [ojrd.biomedcentral.com]
Treatment
The authors suggested that any type of seizures can be seen in these patients, with treatment-resistant complicated partial seizures being the most common.[6] Our patient had treatment-resistant complex partial seizures that could be controlled with triple [pediatricneurosciences.com]
Conclusion: Pharmacologic treatment for resistant epilepsy will have a severe impact on patient's quality of life. [scielo.org.co]
It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
Initial bilateral globus pallidus internus stimulation resulted in successful treatment of the dystonia; however, her movement disorder worsened. [thejns.org]
Prognosis
Prognosis[edit] In general, gray matter heterotopia is fixed in both its occurrence and symptoms; that is, once symptoms occur, it does not tend to progress. Varying results from surgical resection of the affected area have been reported. [en.wikipedia.org]
Etiology
Pédiatrie > Service de pédiatrie >] Publication date : 2019 Journal title : Revue medicale de Liege Volume : 74 Issue/season : 7-8 Pages : 388-390 Peer reviewed : No Audience : National ISSN : 0370-629X Country : Belgium Keywords : [en] Child ; Epilepsy/etiology [orbi.uliege.be]
Cerebral MRI obtained to determine the etiology of seizures revealed left cerebellar dysgenesis and bilateral peritrigonal and temporo-occipital heterotropia (suggestive of posterior PNH) [Figure 1]. [pediatricneurosciences.com]
The etiology of PH is heterogeneous. [neuro.psychiatryonline.org]
Regarding the etiology of PNH, our data favor the idea that genetic factors play a major role in determining PNH in the first three groups for the following lines of evidence. [onlinelibrary.wiley.com]
Epidemiology
Psychiatr Clin North Am 2007; 30:781–802Crossref, Medline, Google Scholar 25 Borthwick-Duffy SA: Epidemiology and prevalence of psychopathology in people with mental retardation. [neuro.psychiatryonline.org]
Pathophysiology
Development: This article presents a review of the most important topics approached from the practice of periventricular nodular heterotopia pathophysiology, clinical features, diagnosis and therapy. [scielo.org.co]
Future research may provide valuable insight into the pathophysiologic mechanisms of epilepsy if we can establish the role that these abnormal structures have within “epileptogenic networks.” [pubs.rsna.org]
Prevention
[…] periventricular heterotopia with Ehlers-Danlos syndrome. 56 6 Sheen VL...Walsh CA 15668422 2005 6 Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene. 56 6 Moro F...Guerrini R 11914408 2002 7 Mutations in filamin 1 prevent [malacards.org]
Her parents believed a complete diagnostic work-up and a genetic screen of their daughter and themselves would help inform them about potential complications resulting from PVNH and preventive strategies to minimize cardiac risk. [vector.childrenshospital.org]
Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron. 1998;21:1315-1325. Huttenlocher PR, Taravath S, Mojtahedi S. Periventricular heterotopia and epilepsy. Neurology. 1994;44:51-55. [dergipark.org.tr]
Google Scholar | Crossref | Medline | ISI Fox JW, Lamperti ED, Eksioglu YZ, et al: Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron 1998;21:1315-1325. [journals.sagepub.com]
In one of these girls, recurrent hospitalization with subsequent long and repeated miss-out times at school may be an important cofactor preventing attendance of a regular school. [ojrd.biomedcentral.com]