{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,24]],"date-time":"2026-03-24T11:41:33Z","timestamp":1774352493059,"version":"3.50.1"},"reference-count":36,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2022,5,8]],"date-time":"2022-05-08T00:00:00Z","timestamp":1651968000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Brain Sciences"],"abstract":"<jats:p>Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital disease characterized by the absence of horizontal gaze movements, progressive scoliosis, and typical brain, cerebellum, and medullary malformations. Here we describe a pediatric HGPPS case with overlapping epilepsy and learning difficulties. A 6-year-old girl was admitted to the University Hospital of Bari for the onset of a tonic\u2013clonic seizure. Electroencephalogram showed slow and sharp waves on the right side with the tendency to diffuse. Brain magnetic resonance imaging demonstrated malformations compatible with HGPPS. Ophthalmological and orthopedic evaluations confirmed conjugate horizontal gaze palsy and mild thoracolumbar scoliosis. Neuropsychological assessment attested normal intelligence but serious difficulties in reading and writing. In spite of neuroradiological malformations, visual difficulties, and spinal deformities, literature data are limited about any coexisting neurocognitive HGPPS symptoms. Literature data regarding such topics are very limited. If, on the one hand, the coexistence of such symptoms can be interpreted as occasional, it could support the idea that they could fall within a spectrum of HGPPS anomalies. In addition to the standard investigations, the activation of specific neuropsychological assessment programs could help interventions improve the specialist care and the quality of life of HGPPS patients.<\/jats:p>","DOI":"10.3390\/brainsci12050613","type":"journal-article","created":{"date-parts":[[2022,5,8]],"date-time":"2022-05-08T08:04:21Z","timestamp":1651997061000},"page":"613","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Horizontal Gaze Palsy with Progressive Scoliosis with Overlapping Epilepsy and Learning Difficulties: A Case Report"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7541-0616","authenticated-orcid":false,"given":"Emilia","family":"Matera","sequence":"first","affiliation":[{"name":"Department of Biomedical Sciences and Human Oncology, University Hospital \u201cA. Moro\u201d, Piazza Giulio Cesare 11, 70100 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1734-788X","authenticated-orcid":false,"given":"Maria Giuseppina","family":"Petruzzelli","sequence":"additional","affiliation":[{"name":"Department of Basic Medical Sciences, Neuroscience and Sensory Organs, University Hospital \u201cA. Moro\u201d, Piazza Giulio Cesare 11, 70100 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martina","family":"Tarantini","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences and Human Oncology, University Hospital \u201cA. Moro\u201d, Piazza Giulio Cesare 11, 70100 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6808-4883","authenticated-orcid":false,"given":"Alessandra","family":"Gabellone","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences and Human Oncology, University Hospital \u201cA. Moro\u201d, Piazza Giulio Cesare 11, 70100 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7448-1017","authenticated-orcid":false,"given":"Lucia","family":"Marzulli","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences and Human Oncology, University Hospital \u201cA. Moro\u201d, Piazza Giulio Cesare 11, 70100 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Romina","family":"Ficarella","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Department of Human Reproductive Medicine, ASL Bari, Via Ospedale Di Venere 1, 70012 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Orsini","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Department of Human Reproductive Medicine, ASL Bari, Via Ospedale Di Venere 1, 70012 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9203-3373","authenticated-orcid":false,"given":"Lucia","family":"Margari","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences and Human Oncology, University Hospital \u201cA. Moro\u201d, Piazza Giulio Cesare 11, 70100 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,5,8]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1747","DOI":"10.2106\/00004623-197456080-00034","article-title":"Congenital scoliosis associated with encephalopathy in five children of two families","volume":"56","author":"Dretakis","year":"1974","journal-title":"J. Bone Joint Surg. 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