We present a case of 18-years old patient, right-handed, without remarkable findings in personal history of childhood, with normal social and psychiatric development. [revmedchir.ro]

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]

These structures were not present in all nodules and were not present in the matched healthy control infant. [pubs.rsna.org]

The documents contained in this web site are presented for information purposes only. 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]

• Disability

  PVNH7 is an autosomal dominant disease characterized by delayed psychomotor development, intellectual disability, and seizures in some patients. Additional features include cleft palate and toe syndactyly. [malacards.org]

  In addition, PVNH may be a recurrent finding in several genetic syndromes, often associated with additional developmental brain malformations and intellectual disability. [epilepsygenetics.net]

  Previous clinical reports of patients with PH have generally focused on other neurological consequences, such as seizures, dyslexia, and intellectual disability. [neuro.psychiatryonline.org]

  Additionally, and depending on the extent, children may demonstrate developmental delay or intellectual disability 3. [radiopaedia.org]

• Developmental Delay

  Patients with band heterotopia may present at any age with variable developmental delay and seizure disorder, which vary widely in severity. [en.wikipedia.org]

  Individuals with periventricular heterotopia in whom ARFGEF2 gene mutations have been identified have a severe form of the disorder, including microcephaly, severe developmental delay, and seizures beginning in infancy. [ghr.nlm.nih.gov]

  Additionally, and depending on the extent, children may demonstrate developmental delay or intellectual disability 3. [radiopaedia.org]

  • Developmental delay and cognitive issues are more common in the pediatric population. • Surgery outcome may be good, with resections limited to the periventricular nodules, cortex, or both after functional studies and proper invasive EEG assessment [medlink.com]

• Pain

  Painful tonic spasms and brainstem involvement in a patient with neuromyelitis optica spectrum disorders. Neurologia I Neurochirurgia Polska 2016; 50 (1): 55-58. 14. Ungureanu A, Rus LL, Gligor F, Lazaroae A, Prodan L, Roman-Filip C. [revmedchir.ro]

  15 year-old girl with paresthesia, headache, and abdominal pain. Jurnalul Pediatrului 2007; 10:32–35Google Scholar 18 Yankovsky AE, Veilleux M, Dubeau F, et al.: Post-ictal rage and aggression: a video-EEG study. [neuro.psychiatryonline.org]

• Long Arm

  It has been demonstrating that approximately 80% of familial cases of PNH are related to FLNA mutation, gene located on the long arm of the X-chromosome inherited in a dominant fashion. [revmedchir.ro]

  Abstract Filamin A is an actin-binding protein and, in humans, is encoded by FLNA gene in the long arm of X chromosome. Filamin A plays a role in the formation of cytoskeleton by crosslinking actin filaments in cytoplasm. [koreamed.org]

• Small Head

  Less commonly, individuals with periventricular heterotopia may have other features including more severe brain malformations, small head size (microcephaly), developmental delays, recurrent infections, blood vessel abnormalities, stomach problems, or [ghr.nlm.nih.gov]

• 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]

• Aggressive Behavior

  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]

• Seizure

  Functional interactions in brain networks underlying epileptic seizures in bilateral diffuse periventricular heterotopia, Clinical Neurophysiology 2008; 119: 212-223. 10. Popescu CE, Mai R, Sara R. [revmedchir.ro]

  Medical history revealed complex partial seizures that first began at 1.5 years of age, which was treated with carbamazepine for 2.5 years. As seizures stopped, the drug was ceased gradually, resulting in no more seizures for 3 years. [pediatricneurosciences.com]

  Furthermore, there were no other clinical seizure phenomena, such as alteration of consciousness, associated with her myoclonus. [jmedscindmc.com]

  Their epileptic histories, the age and modality of seizure onset, and the semiology of the seizures were carefully reviewed. [onlinelibrary.wiley.com]

  Keywords: neuronal migration, neuronal heterotopias, complex partial seizures, epilepsy. [rjlm.ro]

• Irritability

  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]

  Significant behavior problems began in adolescence; these included mood swings, anxiety, impulsiveness, irritability, and confrontational behavior. She was diagnosed with mild ID (IQ 61) and an ASD. [neuro.psychiatryonline.org]

• Excitement

  This abnormal development of connectivity may affect neuronal maturation and consequently the balance of excitation and inhibition in neuronal circuits, leading to their epileptogenic potential. [ncbi.nlm.nih.gov]

  (1) cortical myoclonus shows a time-locked premyoclonus EEG discharge reflecting apical dendrite excitation of pyramidal neurons; (2) myoclonus event latency is consistent with pyramidal tract conduction. [jmedscindmc.com]

• Cerebellar Sign

  There was neither cognitive decline nor any progressive ataxia or cerebellar signs. No evidence of neurocutaneous markers was present. Investigations revealed normal hemogram and serum biochemistry. [jmedscindmc.com]

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]

• Generalized Epileptiform Discharges

  Electroencephalogram (EEG) was suggestive of generalized epileptiform discharges. Further electrophysiological testing, like EEG-electromyogram polygraphy, could not be done due to nonavailability. [jmedscindmc.com]

• Spike-and-Slow-Waves

  Third, no clinical myoclonus was noted during the EEG recording; the interictal EEG recorded generalized spike and slow-wave discharges, the pattern was not suggestive of myoclonic seizures. [jmedscindmc.com]

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[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]

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]

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]

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]

[…] 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]