Horizontal Gaze Palsy with Progressive Scoliosis with Overlapping Epilepsy and Learning Difficulties: A Case Report
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 le...
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MDPI AG
2022-05-01
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| Online Access: | https://www.mdpi.com/2076-3425/12/5/613 |
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| author | Emilia Matera Maria Giuseppina Petruzzelli Martina Tarantini Alessandra Gabellone Lucia Marzulli Romina Ficarella Paola Orsini Lucia Margari |
| author_facet | Emilia Matera Maria Giuseppina Petruzzelli Martina Tarantini Alessandra Gabellone Lucia Marzulli Romina Ficarella Paola Orsini Lucia Margari |
| author_sort | Emilia Matera |
| collection | DOAJ |
| description | 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–clonic 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. |
| first_indexed | 2024-03-10T03:14:24Z |
| format | Article |
| id | doaj.art-428576964a204f5c9e13df6cc62b896d |
| institution | Directory Open Access Journal |
| issn | 2076-3425 |
| language | English |
| last_indexed | 2024-03-10T03:14:24Z |
| publishDate | 2022-05-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Brain Sciences |
| spelling | doaj.art-428576964a204f5c9e13df6cc62b896d2023-11-23T10:17:54ZengMDPI AGBrain Sciences2076-34252022-05-0112561310.3390/brainsci12050613Horizontal Gaze Palsy with Progressive Scoliosis with Overlapping Epilepsy and Learning Difficulties: A Case ReportEmilia Matera0Maria Giuseppina Petruzzelli1Martina Tarantini2Alessandra Gabellone3Lucia Marzulli4Romina Ficarella5Paola Orsini6Lucia Margari7Department of Biomedical Sciences and Human Oncology, University Hospital “A. Moro”, Piazza Giulio Cesare 11, 70100 Bari, ItalyDepartment of Basic Medical Sciences, Neuroscience and Sensory Organs, University Hospital “A. Moro”, Piazza Giulio Cesare 11, 70100 Bari, ItalyDepartment of Biomedical Sciences and Human Oncology, University Hospital “A. Moro”, Piazza Giulio Cesare 11, 70100 Bari, ItalyDepartment of Biomedical Sciences and Human Oncology, University Hospital “A. Moro”, Piazza Giulio Cesare 11, 70100 Bari, ItalyDepartment of Biomedical Sciences and Human Oncology, University Hospital “A. Moro”, Piazza Giulio Cesare 11, 70100 Bari, ItalyMedical Genetics Unit, Department of Human Reproductive Medicine, ASL Bari, Via Ospedale Di Venere 1, 70012 Bari, ItalyMedical Genetics Unit, Department of Human Reproductive Medicine, ASL Bari, Via Ospedale Di Venere 1, 70012 Bari, ItalyDepartment of Biomedical Sciences and Human Oncology, University Hospital “A. Moro”, Piazza Giulio Cesare 11, 70100 Bari, ItalyHorizontal 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–clonic 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.https://www.mdpi.com/2076-3425/12/5/613HGPPSlearning difficultiesepilepsy |
| spellingShingle | Emilia Matera Maria Giuseppina Petruzzelli Martina Tarantini Alessandra Gabellone Lucia Marzulli Romina Ficarella Paola Orsini Lucia Margari Horizontal Gaze Palsy with Progressive Scoliosis with Overlapping Epilepsy and Learning Difficulties: A Case Report Brain Sciences HGPPS learning difficulties epilepsy |
| title | Horizontal Gaze Palsy with Progressive Scoliosis with Overlapping Epilepsy and Learning Difficulties: A Case Report |
| title_full | Horizontal Gaze Palsy with Progressive Scoliosis with Overlapping Epilepsy and Learning Difficulties: A Case Report |
| title_fullStr | Horizontal Gaze Palsy with Progressive Scoliosis with Overlapping Epilepsy and Learning Difficulties: A Case Report |
| title_full_unstemmed | Horizontal Gaze Palsy with Progressive Scoliosis with Overlapping Epilepsy and Learning Difficulties: A Case Report |
| title_short | Horizontal Gaze Palsy with Progressive Scoliosis with Overlapping Epilepsy and Learning Difficulties: A Case Report |
| title_sort | horizontal gaze palsy with progressive scoliosis with overlapping epilepsy and learning difficulties a case report |
| topic | HGPPS learning difficulties epilepsy |
| url | https://www.mdpi.com/2076-3425/12/5/613 |
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