scholarly journals Bilateral periventricular nodular heterotopia – neonatal cranial ultrasound.

2010 ◽  
Vol 14 (1) ◽  
pp. 13
Author(s):  
A R Horn ◽  
A Nel ◽  
M F Urban

A female neonate was delivered at 30 weeks’ gestation to a mother with suspected bilateral periventricular nodular heterotopia (PNH) on computed tomography brain scan. Antenatal ultrasound (US) performed at 28 weeks’ gestation showed mild lateral cerebral ventricle dilatation, but no other fetal anomalies. Clinical examination revealed mild dysmorphic features: facial and skull asymmetry, square-shaped ears, and long tapering fingers. Chromosomal analysis showed a 46XX karyotype.

2012 ◽  
Vol 40 (S1) ◽  
pp. 104-104
Author(s):  
B. Deloison ◽  
P. Sonigo ◽  
A. Millischer ◽  
N. Bahi-Buisson ◽  
G. E. Chalouhi ◽  
...  

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Carla De Angelis ◽  
Alicia B. Byrne ◽  
Rebecca Morrow ◽  
Jinghua Feng ◽  
Thuong Ha ◽  
...  

Abstract Background Periventricular nodular heterotopia (PNH) is a malformation of cortical development characterized by nodules of abnormally migrated neurons. The cause of posteriorly placed PNH is not well characterised and we present a case that provides insights into the cause of posterior PNH. Case presentation We report a fetus with extensive posterior PNH in association with biallelic variants in LAMC3. LAMC3 mutations have previously been shown to cause polymicrogyria and pachygyria in the occipital cortex, but not PNH. The occipital location of PNH in our case and the proposed function of LAMC3 in cortical development suggest that the identified LAMC3 variants may be causal of PNH in this fetus. Conclusion We hypothesise that this finding extends the cortical phenotype associated with LAMC3 and provides valuable insight into genetic cause of posterior PNH.


2009 ◽  
Vol 16 (11) ◽  
pp. 1533-1534
Author(s):  
JS Archer ◽  
DF Abbott ◽  
R Masterton ◽  
S Palmer ◽  
GD Jackson

2004 ◽  
Vol 19 (3) ◽  
pp. 369-377
Author(s):  
Giorgio Battaglia ◽  
Silvana Franceschetti ◽  
Luisa Chiapparini ◽  
Elena Freri ◽  
Stefania Bassanini ◽  
...  

Patients affected by periventricular nodular heterotopia are frequently characterized by focal drug-resistant epilepsy. To investigate the role of periventricular nodules in the genesis of seizures, we analyzed the electroencephalographic (EEG) features of focal seizures recorded by means of video-EEG in 10 patients affected by different types of periventricular nodular heterotopia and followed for prolonged periods of time at the epilepsy center of our institute. The ictal EEG recordings with surface electrodes revealed common features in all patients: all seizures originated from the brain regions where the periventricular nodular heterotopia were located; EEG patterns recorded on the leads exploring the periventricular nodular heterotopia were very similar both at the onset and immediately after the seizure's end in all patients. Our data suggest that seizures are generated by abnormal anatomic circuitries, including the heterotopic nodules and adjacent cortical areas. The major role of heterotopic neurons in the genesis and propagation of epileptic discharges must be taken into account when planning surgery for epilepsy in patients with periventricular nodular heterotopia. ( J Child Neurol 2005;20:369—377).


2011 ◽  
Vol 54 (1) ◽  
pp. 25-28 ◽  
Author(s):  
Alice Masurel-Paulet ◽  
Eric Haan ◽  
Elizabeth M. Thompson ◽  
Cyril Goizet ◽  
Christel Thauvin-Robinet ◽  
...  

Epilepsia ◽  
2015 ◽  
Vol 56 (4) ◽  
pp. 626-635 ◽  
Author(s):  
Emily T. Doisy ◽  
H. Jürgen Wenzel ◽  
Yi Mu ◽  
Danh V. Nguyen ◽  
Philip A. Schwartzkroin

Cortex ◽  
2021 ◽  
Author(s):  
Flavius-Ionut Bratu ◽  
Irina Oane ◽  
Andrei Barborica ◽  
Cristian Donos ◽  
Constantin Pistol ◽  
...  

2018 ◽  
Vol 5 (11) ◽  
pp. 1314-1322 ◽  
Author(s):  
Arezoo Rezazadeh ◽  
Eduard Bercovici ◽  
Tim-Rasmus Kiehl ◽  
Eva W. Chow ◽  
Timo Krings ◽  
...  

1992 ◽  
Vol 50 (4) ◽  
pp. 539-542 ◽  
Author(s):  
Nélida S. Garretto ◽  
David Monteverde ◽  
Héctor Giócoli ◽  
Blanca I. Ravera ◽  
Hugo A. Molina ◽  
...  

Schwannomatosis is a rare disorder, still not quite well defined, seldom described in the literature. In this paper we report the case of male. Patient, 52 years old, who in the last 30 years developed five subcutaneous tumors within his limbs peripheral nerves, which histologically proved to be schwannomas. A brain computed tomography showed a partially calcified tumor in the left temporal lobe which most likely was a meningioma. A thorough clinical examination was unable to find signs of type I or type II neurofibromatosis. The present condition, probably a form of phacomatosis, has to be distinguished from neurofibromatosis and is considered as an independent clinical entity whose origin still awaits further detailed investigations.


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