4.2 Article

Giant subcortical heterotopia involving the temporo-parieto-occipital region: A challenging cause of drug-resistant epilepsy

Journal

EPILEPSY RESEARCH
Volume 87, Issue 1, Pages 88-94

Publisher

ELSEVIER SCIENCE BV
DOI: 10.1016/j.eplepsyres.2009.06.006

Keywords

Subcortical heterotopia; Infancy; Surgery; Drug-resistant epilepsy; Cognitive delay

Ask authors/readers for more resources

The clinical, radiological, neurophysiological and neuropsychological findings of three patients with giant subcortical heterotopia are reported. All patients experienced psychomotor and behaviour improvement after surgery. Two subjects are seizure-free after complete excision of the heterotopia; the third patient significantly improved following subtotal removal (Engel's class II). Patients affected by giant subcortical heterotopias can have a favourable prognosis after the surgical removal of the malformation, even following long-lasting epilepsy. (C) 2009 Elsevier B.V. All rights reserved.

Authors

I am an author on this paper
Click your name to claim this paper and add it to your profile.

Reviews

Primary Rating

4.2
Not enough ratings

Secondary Ratings

Novelty
-
Significance
-
Scientific rigor
-
Rate this paper

Recommended

Review Genetics & Heredity

Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants

Alessandro Mussa, Chiara Leoni, Matteo Iacoviello, Diana Carli, Carlotta Ranieri, Antonino Pantaleo, Paola Sabrina Buonuomo, Rosanna Bagnulo, Giovanni Battista Ferrero, Andrea Bartuli, Daniela Melis, Silvia Maitz, Daria Carmela Loconte, Antonella Turchiano, Marilidia Piglionica, Annunziata De Luisi, Francesco Claudio Susca, Nenad Bukvic, Cinzia Forleo, Angelo Selicorni, Giuseppe Zampino, Roberta Onesimo, Gerarda Cappuccio, Livia Garavelli, Chiara Novelli, Luigi Memo, Carla Morando, Matteo Della Monica, Maria Accadia, Martina Capurso, Carmelo Piscopo, Anna Cereda, Marilena Carmela Di Giacomo, Veronica Saletti, Alessandro Mauro Spinelli, Patrizia Lastella, Romano Tenconi, Veronika Dvorakova, Alan D. Irvine, Nicoletta Resta

Summary: In this study, the disease heterogeneity of PIK3CA-related overgrowth spectrum (PROS) was explored, and the factors contributing to the diseases were identified. By analyzing 150 new patients and 1007 previously reported mutated patients, a comprehensive picture of the diseases was obtained. The study found that strongly activating PIK3CA variants were mainly present in affected tissues, while weakly activating variants were mainly present in blood. Additionally, strongly activating variants were more common in cases without central nervous system involvement, while weakly activating variants were more associated with central nervous system involvement.

JOURNAL OF MEDICAL GENETICS (2023)

Editorial Material Pediatrics

RASopathies and sigmoid-shaped ventricular septum morphology: evidence of a previously unappreciated cardiac phenotype

Angelica Bibiana Delogu, Rita Blandino, Chiara Leoni, Marco Tartaglia, Giuseppe Zampino

PEDIATRIC RESEARCH (2023)

Article Ophthalmology

Multimodal ocular imaging in Proteus syndrome

Annabella Salerni, Luca Scartozzi, Fabrizio Piccinni, Luigi Mosca, Roberta Mattei, Chiara Leoni, Roberta Onesimo, Giuseppe Zampino, Stanislao Rizzo

Summary: This report illustrates the ophthalmologic assessment of two patients with Proteus Syndrome. Both cases involve multiple ophthalmic anomalies and a multimodal imaging evaluation was performed to track the disease evolution and characterize this rare syndrome further.

EUROPEAN JOURNAL OF OPHTHALMOLOGY (2023)

Article Genetics & Heredity

Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy

Maimuna S. Paul, Anna R. Duncan, Casie A. Genetti, Hongling Pan, Adam Jackson, Patricia E. Grant, Jiahai Shi, Michele Pinelli, Nicola Brunetti-Pierri, Alexandra Garza-Flores, Dave Shahani, Russell P. Saneto, Giuseppe Zampino, Chiara Leoni, Emanuele Agolini, Antonio Novelli, Ulrike Bluemlein, Tobias B. Haack, Wolfram Heinritz, Eva Matzker, Bader Alhaddad, Rami Abou Jamra, Tobias Bartolomaeus, Saber AlHamdan, Raphael Carapito, Bertrand Isidor, Seiamak Bahram, Alyssa Ritter, Kosuke Izumi, Ben Pode Shakked, Ortal Barel, Bruria Ben Zeev, Amber Begtrup, Deanna Alexis Carere, Sureni Mullegama, Timothy Blake Palculict, Daniel G. Calame, Katharina Schwan, Alicia R. P. Aycinena, Rasa Traberg, Sofia Douzgou, Harrison Pirt, Naila Ismayilova, Siddharth Banka, Hsiao-Tuan Chao, Pankaj B. Agrawal

Summary: Variants in the EIF4A2 gene cause a genetic neurodevelopmental syndrome characterized by global developmental delay, intellectual disability, hypotonia, epilepsy, and structural brain anomalies. These variants disrupt protein structure and result in both loss of function and gain of function mechanisms.

AMERICAN JOURNAL OF HUMAN GENETICS (2023)

Review Genetics & Heredity

What to Expect of Feeding Abilities and Nutritional Aspects in Achondroplasia Patients: A Narrative Review

Elisabetta Sforza, Gaia Margiotta, Valentina Giorgio, Domenico Limongelli, Francesco Proli, Eliza Maria Kuczynska, Chiara Leoni, Cristina De Rose, Valentina Trevisan, Domenico Marco Romeo, Rosalinda Calandrelli, Eugenio De Corso, Luca Massimi, Osvaldo Palmacci, Donato Rigante, Giuseppe Zampino, Roberta Onesimo

Summary: Achondroplasia is a common skeletal dysplasia in humans, caused by mutations in the FGFR3 gene. Although its cardinal features and inheritance have been well-established, feeding and nutritional complications have not been given much prominence.

GENES (2023)

Article Clinical Neurology

Technical note-in situ laminotomy: preserving posterior tension band in surgery of pediatric multilevel spinal tumor

Paolo Frassanito, Carolina Noya, Giorgio Ducoli, Luca Massimi, Federico Bianchi, Tommaso Verdolotti, Gianpiero Tamburrini

Summary: Introducing the technique of in situ laminotomy for treating spinal tumors, which allows preservation of the posterior tension band and provides sufficient exposure for surgery. This technique makes the procedure easier and faster while ensuring the integrity of the spine.

CHILDS NERVOUS SYSTEM (2023)

Letter Genetics & Heredity

Further case of enlarged spinal nerve roots in KRAS-related Noonan syndrome

Chiara Leoni, Germana Viscogliosi, Roberta Onesimo, Tommaso Verdolotti, Tommaso Biagini, Tommaso Mazza, Alessandro De Luca, Lucrezia Perri, Valentina Trevisan, Elisabetta Flex, Marco Tartaglia, Giuseppe Zampino

CLINICAL GENETICS (2023)

Article Medicine, General & Internal

Enhancing the Reliability of Intraoperative Ultrasound in Pediatric Space-Occupying Brain Lesions

Paolo Frassanito, Vito Stifano, Federico Bianchi, Gianpiero Tamburrini, Luca Massimi

Summary: Intraoperative ultrasound (IOUS) is a helpful tool for the resection of space-occupying brain lesions, although technical limits may affect its reliability. By using IOUS with careful assessment of technical limits and implementing strategies to enhance real-time imaging, accurate localization and evaluation of resection extent can be achieved. These strategies include the use of hyperechoic markers, contrast administration, and specific techniques to overcome the limitations.

DIAGNOSTICS (2023)

Article Genetics & Heredity

Systematic ophthalmologic evaluation in cardio-facio-cutaneous syndrome: A genotype-endophenotype correlation

Emanuele Crincoli, Chiara Leoni, Germana Viscogliosi, Roberta Onesimo, Roberta Mattei, Marco Tartaglia, Fiammetta Catania, Stanislao Rizzo, Giuseppe Zampino, Annabella Salerni

Summary: Cardio-facio-cutaneous syndrome (CFCS) is a rare genetic disorder caused by upregulated RAS/MAPK signaling. This study investigates the prevalence of ophthalmologic abnormalities in CFCS patients and explores genotype-endophenotype correlations. The findings suggest that CFCS patients with BRAF mutations have a higher risk of visual impairment and refractive errors, while patients with mutations in other genes have a higher prevalence of myopia. Pale optic disc is associated with specific eye muscle abnormalities. Early ophthalmologic referral is recommended for CFCS patients, especially those with BRAF mutations, due to the high risk of amblyopia.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2023)

Review Clinical Neurology

Adamantinomatous craniopharyngioma: evolution in the management

Luca Massimi, Davide Palombi, Alessandra Musarra, Federico Bianchi, Paolo Frassanito, Gianpiero Tamburrini, Concezio Di Rocco

Summary: Adamantinomatous craniopharyngioma (AC) is a challenging tumor due to its proximity to important anatomical structures, which can result in significant functional impairments and impact the patient's quality of life. The management of AC has evolved over time, with the current main approach being an integrated treatment combining surgery and adjuvant therapies.

CHILDS NERVOUS SYSTEM (2023)

Article Clinical Neurology

Chiari I malformation: management evolution and technical innovation

Federico Bianchi, Benedetta Montedoro, Paolo Frassanito, Luca Massimi, Gianpiero Tamburrini

Summary: Thanks to the growing use of radiological assessment in recent years, Chiari I malformation has become a major disease for neurosurgeons to deal with. It can be classified based on the extent of protrusion of the cerebellar tonsil tip into the foramen magnum. The pathogenesis of primary CIM is still controversial, while acquired CIMs are secondary to intracranial hypertension or hypotension.

CHILDS NERVOUS SYSTEM (2023)

Article Clinical Neurology

Endoscopic endonasal approach for infradiaphragmatic craniopharyngiomas: a multicentric Italian study

Domenico Solari, Elena d'Avella, Gianluca Agresta, Domenico Catapano, Aurelio D'Ecclesia, Davide Locatelli, Luca Massimi, Diego Mazzatenta, Giannantonio Spena, Gianpiero Tamburrini, Cesare Zoia, Matteo Zoli, Giuseppe Cinalli, Paolo Cappabianca, Luigi Maria Cavallo

Summary: This study aimed to analyze the characteristics of infradiaphragmatic craniopharyngiomas (ICs) and the impact of transsphenoidal endoscopic surgery. The results showed that EEA provides a direct route to ICs, avoids the need for additional bone and dural opening over the planum sphenoidale, and achieves high surgical success rates and satisfactory clinical outcomes.

JOURNAL OF NEUROSURGERY (2023)

Article Pediatrics

Predicting the clinical trajectory of feeding and swallowing abilities in CHARGE syndrome

R. Onesimo, E. Sforza, V. Giorgio, D. Rigante, E. Kuczynska, C. Leoni, F. Proli, C. Agazzi, D. Limongelli, A. Cerchiari, M. Tartaglia, G. Zampino

Summary: This study assesses the feeding and oral-motor abilities of patients with CHARGE syndrome at different ages and their development over time. It finds that newborns with CS have weak sucking and poor coordination between breathing and swallowing. The dependence on tube feeding decreases gradually, and the ability to eat foods requiring chewing is achieved at school age, with the help of speech language therapy.

EUROPEAN JOURNAL OF PEDIATRICS (2023)

Article Audiology & Speech-Language Pathology

Validation and cross-cultural adaptation of the Italian version of the paediatric eating assessment tool (I-PEDI-EAT-10) in genetic syndromes

Roberta Onesimo, Elisabetta Sforza, Elizabeth Katherine Anna Triumbari, Francesco Proli, Chiara Leoni, Valentina Giorgio, Donato Rigante, Valentina Trevisan, Cristina De Rose, Eliza Maria Kuczynska, Antonella Cerchiari, Marika Pane, Eugenio Mercuri, Peter Belafsky, Giuseppe Zampino

Summary: This study successfully translated and validated the PEDI-EAT-10 tool in Italian, demonstrating its reliability and validity in identifying dysphagia in children and adolescents with special needs.

INTERNATIONAL JOURNAL OF LANGUAGE & COMMUNICATION DISORDERS (2023)

Article Radiology, Nuclear Medicine & Medical Imaging

Fetal MRI prior to intrauterine surgery of open neural tube defects: What does the radiologist need to know

Giacomo Avesani, Alessio Perazzolo, Lorenzo Elia, Andrea Giovanni Anghelone, Simona Gaudino, Luca Russo, Enza Genco, Valerio Di Paola, Luca Massimi, Marco De Santis, Gianpiero Tamburrini, Riccardo Manfredi

Summary: Fetal MRI plays an important role in fetal surgery for open neural tube defects (NTDs). Specific inclusion and exclusion criteria can be adequately studied using fetal MRI. This review discusses the significance of fetal MRI in supporting pre-surgery treatment decisions and post-surgical effectiveness assessment.

RADIOLOGIA MEDICA (2023)

No Data Available