The cervico-oculo-acoustic syndrome comprises Klippel-Feil anomaly, sensorineural deafness and Duane's retraction syndrome. Polygenic, autosomal dominant, and X-linked inheritance have been hypothesized. The disorder has rarely been reported in males.

A 42-year-old male, born of consanguineous parents, presented with Duane's syndrome, mixed hearing loss, C2-C3 fusion, neck stiffness, and right facial palsy. A variety of cardiac, neurological and urogenital anomalies occurred in his relatives. The electro-oculographic studies showed impaired abduction and adduction of the right eye and impaired abduction of the left eye. Vergence, vertical eye movements and peripheral vestibular responses were normal. Somatosensory evoked potentials showed absence of the N13 peak and brainstem auditory evoked potentials bilateral delay of the I-III interpeak latencies.

Consanguinity of the patient's parents, not previously reported, suggests autosomal recessive inheritance, but autosomal dominant inheritance is indicated by the family history. The pattern of the oculomotor deficit is consistent with bilateral dysplasia of the abducens nuclei with preserved internuclear neurons in the right abducens nucleus. Neurophysiological investigations revealed lower brainstem and cervical cord involvement.

Dopamine agonists are widely used in the treatment of pituitary prolactinomas. We report a case of inferior mesial frontal lobe (gyrus rectus) and chiasmal herniations into an enlarged sella following successful medical treatment of a pituitary macroadenoma.

A 71-year-old healthy man presented to medical attention with visual complaints. On examination, he was found to have bitemporal hemianopsia. Endocrine evaluation revealed an elevated prolactin level. He was treated medically with a dopamine agonist (bromocriptine).

Evaluation after one year of medical treatment revealed stabilization of the patient's vision, with a significant bitemporal field loss. Serum prolactin levels normalized (5.16 ng/ml). The MRI of the sella showed almost complete disappearance of the tumor, resulting in right mesial frontal lobe herniation inferiorly into an enlarged sella with associated chiasmal deformation.

We report a case where successful medical treatment of a large pituitary prolactinoma has resulted in inferior frontal lobe and chiasmal herniatons into an enlarged sella.

Clinical diagnosis of Creutzfeldt-Jakob disease (CJD) is based on the classical triad of rapidly progressive dementia, myoclonus and abnormal EEG. The 200k mutation within the gene encoding PrP, located on the short arm of chromosome 20, accounts for more than 70% of families with CJD worldwide.

Herein, we report a patient who developed persistent dry cough and classical signs of CJD, including severe cognitive decline, cerebellar signs, and myoclonic jerks, leading to death a few weeks after disease onset. Mutation screening showed that he had the 200k point mutation in the PRNP gene. His mother had died twenty years earlier with neuropathologically confirmed CJD. She had presented a rapidly progressive ataxia with myoclonus, dementia, visual hallucinations, and the same persistent dry cough.

The clinical presentation of this familial CJD case with persistent dry cough is quite unusual. Therefore, a neurological etiology should be sought when confronted with an unexplained persistent cough.

Sildenafil citrate has been shown to enhance neurogenesis, angiogenesis, synaptogenesis, and neurological outcome by augmentation of cyclic guanosine monophosphate (cGMP) levels in animal models of ischemic stroke. Whether sildenafil citrate may be helpful for recovery in human stroke is unknown at this time.

A 41-year-old woman with locked-in syndrome due to pontine infarction began receiving 150 mg of oral sildenafil citrate daily on a compassionate use basis in August 2003 and continues treatment at this time. Magnetoencephalography (MEG) was performed at 12 and 17 months after stroke.

No serious adverse events have occurred. Significant milestone recoveries including standing, use of both arms, talking, and full return of swallowing have occurred, particularly after nine months of treatment. The MEG showed a significantly increased amplitude in the somatosensory cortex.

Daily use of high dose sildenafil citrate appears to be safe in this patient with stroke resulting in locked-in syndrome. Further studies will be required to establish safety and efficacy.

Reversible segmental cerebral vasoconstriction (RSCV) is a recognizable clinical and radiographic syndrome consisting of thunderclap headache with or without focal neurological symptoms combined with reversible segmental vasoconstriction of proximal cerebral blood vessels.

We report a case of reversible segmental cerebral vasoconstriction in a child.

A healthy 13-year-old boy experienced the sudden onset of a severe, diffuse headache upon surfacing from a deep dive in a swimming pool. Severity was maximal at the onset and improved over several hours. The same headache recurred three times over the next four days and a low baseline headache persisted throughout. Vomiting occurred once and mild photo/osmophobia were reported but throbbing, aura, or autonomic symptoms were absent. Focal neurological signs or symptoms were absent and he denied previous history of headaches, medications, drugs, or trauma. Two normal CT scans were performed within hours of separate headaches. Cerebrospinal fluid study on day 5 was bloody with no xanthochromia. MRI/MRA/MRV of the brain and vasculitic work-up were normal. Cerebral angiography on day 6 demonstrated smooth narrowing of multiple proximal cerebral vessels including supraclinoid internal carotid artery (ICA), M1, and A1 on the right and M1 on the left. By ten days, the patient's headaches had resolved and repeat angiography was normal.

RSCV should be considered in a child with thunderclap headache.