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Chromosome 15q BP4-BP5 Deletion in a Girl with Nocturnal Frontal Lobe Epilepsy, Migraine, Circumscribed Hypertrichosis, and Language Impairment

Journal of Epilepsy Research 2020년 10권 2호 p.84 ~ 91
Pavone Piero, Pappalardo Xena Giada, Ohazuruike Ugochi Ngaobiri Nelly, Striano Pasquale, Parisi Pasquale, Corsello Giovanni, Marino Simona Domenica, Ruggieri Martino, Parano Enrico, Falsaperla Raffaele,
소속 상세정보
 ( Pavone Piero ) - University Hospital Policlinico-Vittorio Emanuele Unit of Pediatrics and Pediatric Emergency
 ( Pappalardo Xena Giada ) - National Council of Research Institute for Biomedical Research and Innovation Unit of Catania
 ( Ohazuruike Ugochi Ngaobiri Nelly ) - University of Catania Department of General Surgery and Medical-Surgical Specialties
 ( Striano Pasquale ) - IRCCS G. Gaslini Institute Pediatric Neurology and Muscular Diseases Unit
 ( Parisi Pasquale ) - Sapienza University Faculty of Medicine and Psychology NESMOS Department Child Neurology
 ( Corsello Giovanni ) - University of Palermo Department of Sciences for Health Promotion and Mother and Child Care
 ( Marino Simona Domenica ) - University Hospital Policlinico-Vittorio Emanuele Unit of Neonatology
 ( Ruggieri Martino ) - University Hospital Policlinico-Vittorio Emanuele Unit of Pediatrics and Pediatric Emergency
 ( Parano Enrico ) - National Council of Research Institute for Biomedical Research and Innovation Unit of Catania
 ( Falsaperla Raffaele ) - University Hospital Policlinico-Vittorio Emanuele Unit of Neonatology

Abstract


The 15q13.3 microdeletion (microdel15q13.3) syndrome (OMIM 612001) has been reported in healthy subjects as well as in individuals with a wide spectrum of clinical manifestations ranging from mild to severe neurological disorders, including developmental delay/intellectual disability, autism spectrum disorder, schizophrenia, epilepsy, behavioral problems and speech dysfunction. This study explored the link between this genomic rearrangement and nocturnal frontal lobe epilepsy (NFLE), which could improve the clinical interpretation. A clinical and genomic investigation was carried out on an 8-year-girl with a de novo deletion flanking the breakpoints (BPs) 4 and 5 of 15q13.3 detected by array comparative genomic hybridization analysis, affected by NFLE, migraine with aura, minor facial features, mild cognitive and language impairment, and circumscribed hypertrichosis. Literature survey of clinical studies was included. Nine years follow-up have displayed a benign course of the epileptic disorder with a progressive reduction and disappearance of the epileptic seizures, mild improvement of cognitive and language skills, partial cutaneous hypertrichosis regression, but stable ongoing of migraine episodes. A likely relationship between the BP4-BP5 deletion and NFLE with other symptoms presented by the girl is discussed together with a review of the literature on phenotypic features in microdel15q13.3.

키워드

Chromosome breakpoints; Frontal lobe epilepsy; Hypertrichosis; Migraine disorders; Language disorders

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