Case 278: Mutation in Gene-Horizontal Gaze Palsy and Progressive Scoliosis.

Radiology

From the Division of Neuroradiology, Department of Diagnostic Imaging, Santa Casa de Misericórdia de São Paulo, Rua Dr Cesário Motta Júnior 112, Vila Buarque, São Paulo, SP 01009-972, Brazil (F.A.S., F.T.P., R.H.N., A.J.d.R.); and Divisions of Neuroradiology (F.A.S., F.T.P., R.H.N., A.S., A.J.d.R.) and Genetics (M.P.M.), Diagnósticos da América SA, São Paulo, Brazil.

Published: June 2020

HistoryA 13-year-old girl was born to consanguineous parents. She presented with mild intellectual impairment, convergent strabismus, horizontal gaze palsy, and bilateral abducens palsy. Vertical gaze was preserved, and no abnormalities suggesting facial paralysis were noted. In addition, she reported progressive back pain since she was 5 years old. Other symptoms were denied. No medications or related drugs had been administered thus far. The patient underwent brain MRI for further evaluation. Current and previous spine radiographs were also reviewed.

Download full-text PDF

Source
http://dx.doi.org/10.1148/radiol.2020181238DOI Listing

Publication Analysis

Top Keywords

gaze palsy
8
case 278
4
278 mutation
4
mutation gene-horizontal
4
gene-horizontal gaze
4
palsy progressive
4
progressive scoliosis
4
scoliosis historya
4
historya 13-year-old
4
13-year-old girl
4

Similar Publications

Introduction Prehospital stroke scales have been developed to identify anterior large vessel occlusion (LVO) in acute ischemic stroke (AIS) patients for direct transport to thrombectomy-capable hospitals. However, its performance in a Vietnamese population remains unknown. We aimed to evaluate the predictive value of the Rapid Arterial oCclusion Evaluation (RACE) scale for LVO detection in patients with ischemic stroke presenting within 24 hours in Vietnam.

View Article and Find Full Text PDF

Background: Niemann-Pick type C (NPC) disease is a lysosomal storage disease with visceral organ involvement and neurological and psychiatric symptoms. This study presents the clinical and laboratory findings of NPC cases involving three novel variants.

Methods: The clinical and laboratory findings were reviewed retrospectively between February 2006 and December 2022.

View Article and Find Full Text PDF

A 63-year-old previously healthy man participated in a longitudinal epidemiologic study of dementia and aging. Although he initially showed no subjective symptoms and a normal motor function, verbal fluency test scores gradually declined, and progressive atrophy of the frontal lobes was observed on magnetic resonance imaging of the head. At 71 years old, progressive supranuclear palsy (PSP) was diagnosed after supranuclear gaze palsy, and gait disturbance developed.

View Article and Find Full Text PDF

Mitochondrial dysfunction has been implicated in the pathogenesis of several neurodegenerative disorders, including progressive supranuclear palsy (PSP). PSP is a Parkinsonian syndrome characterized by a rapidly progressive state that manifests itself as tremors, bradykinesia, and supranuclear gaze palsy. Carnitine plays an essential role in mitochondrial function by transporting fatty acids across the mitochondrial membrane to be used in energy production.

View Article and Find Full Text PDF

The clinical evolution and management of a 22-yr-old male envenomed by a captive female inland taipan, Oxyuranus microlepidotus (McCoy, 1879), Elapidae, at a public educational reptile exhibit (Florida, USA) is reported. The patient was bitten (quick 'bite and release') in the right hand between digits #3 and 4 while performing captive maintenance. The victim did not attempt any first aid, but urgently presented to the local hospital within 25 mins post-bite.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!