Purpose: Extensive multilobar cortical dysplasia in infants commonly is first seen with catastrophic epilepsy and poses a therapeutic challenge with respect to control of epilepsy, brain development, and psychosocial outcome. Experience with surgical treatment of these lesions is limited, often not very encouraging, and holds a higher operative risk when compared with that in older children and adults.
Methods: Two infants were evaluated for surgical control of catastrophic epilepsy present since birth, along with a significant psychomotor developmental delay. Magnetic resonance imaging showed multilobar cortical dysplasia (temporoparietooccipital) with a good electroclinical correlation. They were treated with a temporal lobectomy and posterior (parietooccipital) disconnection.
Results: Both infants had excellent postoperative recovery and at follow-up (1.5 and 3.5 years) evaluation had total control of seizures with a definite "catch up" in their development, both motor and cognitive. No long-term complications have been detected to date.
Conclusions: The incorporation of disconnective techniques in the surgery for extensive multilobar cortical dysplasia in infants has made it possible to achieve excellent seizure results by maximizing the extent of surgical treatment to include the entire epileptogenic zone. These techniques decrease perioperative morbidity, and we believe would decrease the potential for the development of long-term complications associated with large brain excisions.
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http://dx.doi.org/10.1111/j.0013-9580.2004.65603.x | DOI Listing |
BMJ Case Rep
January 2025
Paediatrics, Bahrain Defence Force Royal Medical Services, Riffa, Bahrain.
This case report provides details of the first documented case of pituitary stalk interruption syndrome (PSIS) with coexistent focal cortical dysplasia (FCD) in a young boy. The child's initial presentation was an afebrile, generalised tonic-clonic seizure associated with postictal drowsiness. During his first episode, the physical examination revealed a short, obese child with a micropenis and left cryptorchidism.
View Article and Find Full Text PDFBMJ Open
December 2024
INSERM UMR1231 Génétique des Anomalies du Développement (GAD), Université de Bourgogne, Dijon, France.
Introduction: The megalencephaly capillary malformation polymicrogyria (MCAP syndrome) results from mosaic gain-of-function variants. The main clinical features are macrocephaly, somatic overgrowth, neurodevelopmental delay and brain anomalies. Alpelisib (Vijoice) is a recently FDA-approved PI3Kα-specific inhibitor for patients with PIK3CA-related overgrowth spectrum (PROS).
View Article and Find Full Text PDFSci Rep
January 2025
Key Laboratory of Chemical Biology and Molecular Engineering of National Ministry of Education, Institutes of Biomedical Sciences, Shanxi University, Taiyuan, 030006, China.
The TSC complex formed by TSC1 and TSC2 is the most important upstream negative regulator of mTORC1. Genetic variations in either TSC1 or TSC2 cause tuberous sclerosis complex (TSC) disease which is a rare autosomal dominant disorder resulting in impairment of multiple organ systems. In this study, besides a reported variation, c.
View Article and Find Full Text PDFEur J Neurol
January 2025
Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.
Objective: Temporal lobe epilepsy with hippocampal sclerosis (HS) is a surgically remediable syndrome. We determined temporal trends in the prevalence of hippocampal sclerosis surgeries and related factors.
Methods: We analysed a prospective cohort of adults who underwent epilepsy surgery at the NHNN, London, between 1990 and 2019.
J Clin Med
December 2024
Division of Endocrinology, Diabetes and Metabolism, ENDO-ERN Center for Rare Pediatric Endocrine Disorders, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, Aghia Sophia Children's Hospital, 11527 Athens, Greece.
Kenny-Caffey syndrome 2 (KCS2) is a rare cause of hypoparathyroidism, inherited in an autosomal dominant mode, resulting from pathogenic variants of the gene, which is implicated in intracellular pathways regulating parathormone (PTH) synthesis and skeletal and parathyroid gland development. : The case of a boy is reported, presenting with the characteristic and newly identified clinical, biochemical, radiological, and genetic abnormalities of KCS2. : The proband had noticeable dysmorphic features, and the closure of the anterior fontanel was delayed until the age of 4 years.
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