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 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.