Idiopathic Paroxysmal Tonic Upward Gaze

Paroxysmal Tonic Upward Gaze at Adolescence: A Girl with Prader-Willi Syndrome.

Child neurology: paroxysmal stiffening, upward gaze, and hypotonia: hallmarks of sepiapterin reductase deficiency.

P. Dill, MD M. Wagner, MD A. Somerville, MD B. Thöny, PhD N. Blau, PhD P. Weber, MD Sepiapterin reductase deficiency (SRD) is a dopasensitive neurotransmitter disorder, caused by mutation of the SPR gene located on chromosome 2p14-p12.1 To date, 31 patients with 14 mutations have been diagnosed (BIODEF database, update November 2010, www.biopku.org). While classic tetrahydrobiopterin deficienci...

Paroxysmal tonic upgaze of childhood--a review.

Ouvrier and Billson (1988) were apparently the first to describe this entity. In the four original cases, the clinical features were as follows: (1) onset usually under 1 year of age, (2) episodes of variably sustained conjugate upward deviation of the eyes, with neck flexion (chin down) apparently compensating for the abnormal eye position, (3) downbeating saccades in attempted downgaze, (4) n...

Paroxysmal tonic upgaze of childhood with co-existent absence epilepsy.

Paroxysmal tonic upgaze (PTU) is a childhood oculomotor syndrome of unclear etiology characterized by episodic tonic upward eye deviation with neck flexion. Neuroimaging findings are often normal and the electroencephalography during episodes is typically normal. We describe a 2-year-old boy who presented with macrocephaly, hypotonia, developmental delay and episodes of eye fluttering, head nod...

Syncope Due to Idiopathic Paroxysmal Atrioventricular Block

Results The study group consisted of 9 men and 9 women, mean age 55 19 years, who had recurrent unexplained syncope for 8 7 years and were subsequently followed up for as long as 14 years (4 4 years on average). The patients had no structural heart disease, standard ECG was normal, and electrophysiological study was negative. In all patients, prolonged ECG monitoring documented paroxysmal compl...