HGPPS is a rare congenital disorder resulting from cranial nuclear maldevelopment and characterized by absence of conjugate horizontal eye movements, preservation of vertical gaze & convergence, progressive scoliosis developing in childhood and hypoplasia of dorsomedial brainstem structures associated with sagittal cleft of pons and medulla. We present a 19 years old male, with restriction of e...

Harms tangent screen, a subjective measurement method of three-dimensional binocular alignment, was compared with search coil recording. Twenty-three patients with unilateral trochlear nerve palsy were measured in nine gaze positions. The two methods correlated best for the horizontal gaze deviation, the vertical gaze deviation, and the vertical incomitance, but there was no correlation for the...

Supranuclear gaze palsies are an uncommon feature of Creutzfeldt-Jakob disease (CJD). Most reported cases of CJD with features of supranuclear gaze palsy are familial. We report 2 patients with supranuclear vertical gaze abnormalities associated with spongiform changes in the midbrain. Both patients were found to have sporadic CJD after genetic testing. Distinguishing familial from sporadic CJD...

BACKGROUND Niemann-Pick disease Type C (NP-C) is difficult to diagnose due to heterogeneous and nonspecific clinical presentation. The NP-C Suspicion Index (SI) was developed to identify patients with a high likelihood of NP-C; however, it was less reliable in patients aged <4 years. METHODS An early-onset NP-C SI was constructed following retrospective chart review of symptom presentation in...

PURPOSE To investigate vertical and torsional eye motion during and immediately after vertical saccades with acute acquired superior oblique palsy (SOP) in monkeys. METHODS The trochlear nerve was severed intracranially in two rhesus monkeys. After surgery, the paretic eye was patched for 6 to 9 days, and then binocular viewing was allowed. Three-axis eye movements (horizontal, vertical, and ...

A 39-year-old man developed dizziness and diplopia. Examination showed medial gaze palsy of the right eye. He had no headache, vertical gaze palsy, or skew deviation. A CSF examination was not performed. MRI (figure) showed cystic mass and acute infarction. After 7 days heparization, the mass was removed by surgery and pathology confirmed the dermoid cyst. After operation, the neurologic abnorm...

We present a teenage boy with recent onset of seizures, who was erroneously treated with a large dose of an antiseizure medication as a result of drug mix-up. The ensuing drug toxicity caused vertical gaze palsy, an unusual manifestation related to overdose of the agent. Timely recognition of the error and discontinuation of the drug resulted in complete recovery to baseline.

PURPOSE Optokinetic stimulation induces nystagmus that can be used to test the saccadic and visual-tracking systems in some patients with voluntary gaze palsies. The purpose of this study was to characterize vertical optokinetic nystagmus (OKN) in normal human subjects, comparing the dynamic properties of the quick phases with voluntary saccades of similar size and measuring the slow-phase resp...