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]

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]

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]

Patients with isolated subependymal heterotopia usually present with a seizure disorder in the second decade of life. Subependymal heterotopia present in a wide array of variations. [en.wikipedia.org]

• Developmental Disorder

  and infrasylvian developmental disorders. [pediatricneurosciences.com]

  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]

  This is strong clinical evidence of a genetic basis underlying critical aspects of this developmental disorder. The twins and second sister pair were concordant with respect to associated malformations within each pair. [ajnr.org]

• Small Head

  While patients typically have normal intelligence, a doctor may see severe brain malformations, small head size, developmental delays, and frequent infections. [med.uth.edu]

  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]

• Macrocephaly

  Clinical examination revealed macrocephaly (SDS +2), prominent forehead, bilateral clinodactyly of the 5th fingers, partial cutaneous 2-3 syndactyly of the toes (Figure 1A), and penoscrotal hypospadias with bifid chordee. [frontiersin.org]

• Hyperactivity

  Arq Neuropsiquiatr 2009; 67(2A):299–301Crossref, Medline, Google Scholar 22 Nopoulos P, Berg S, Castellenos FX, et al.: Developmental brain anomalies in children with attention-deficit hyperactivity disorder. [neuro.psychiatryonline.org]

  Nedd4-2 haploinsufficiency causes hyperactivity and increased sensitivity to inflammatory stimuli. Sci. Rep. 6, 32957. doi: 10.1038/srep32957 PubMed Abstract | CrossRef Full Text | Google Scholar [frontiersin.org]

• Myoclonus

  Treatment of myoclonus. Neurotherapeutics 2014;11:188-200. [Figure 1] [jmedscindmc.com]

  One patient presented with a left-sided myoclonus and choreiform movements associated with a right caudate heterotopia; she experienced vast improvement after resection of periventricular heterotopia. [thejns.org]

• Aura

  The convulsions were preceded by aura, described by the patient as heaviness in head, and were generalized tonic–clonic in nature, each episode lasting for 1–2 min followed by 15–20 min of postictal confusion. [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]

• Posterior Fossa Cysts

  Seventeen patients with cerebellar abnormalities had posterior fossa cysts. The appearance of the cysts varied from small unilateral cysts with no mass effect to large cysts expanding the posterior fossa. [ajnr.org]

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]

Surgery is often the best treatment for patients with periventricular nodular heterotopia. Causes of Periventricular Nodular Heterotopia This genetic abnormality is caused by a mutation in one of two genes. [med.uth.edu]

Conclusion: Pharmacologic treatment for resistant epilepsy will have a severe impact on patient's quality of life. [scielo.org.co]

[…] hyperflexible joints and vascular anomalies, which also occur in Ehlers-Danlos syndrome (EDS).[8155][8156][1823] X-linked periventricular heterotopia is caused by mutations in the FLNA gene and is inherited in an X-linked dominant manner.[1823][1824] Treatment [rarediseases.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]

The presence of other types of cortical or cerebral malformations, in addition to periventricular nodules, determines a poor prognosis. periventricular nodular heterotopia malformation of cortical development epilepsy electroclinical features prognosis [jnnp.bmj.com]

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]

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]

NH is a morphologically and etiologically heterogeneous condition, in particular solitary nodules may be observed as an unspecific finding either isolated or with various complex brain malformations. [ojrd.biomedcentral.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]

[…] hypoplasia may also be associated with PNH.1,14–17 High resolution magnetic resonance imaging (MRI) has revolutionised the study of MCD by showing how important these conditions are as a cause of epilepsy, contributing to a greater understanding of the pathophysiology [jnnp.bmj.com]

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]

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]

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]

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]

[…] heterotopia in a Spanish family with a single FLNA mutation. 57 5 Gomez-Garre P...Serratosa JM 15994863 2006 7 Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. 57 5 Sheen VL...Walsh CA 15668422 2005 8 Mutations in filamin 1 prevent [malacards.org]

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]