Oculodentodigital dysplasia (ODDD) (MIM 164200) is a rare autosomal dominant inherited disorder affecting the development of the face, eyes, limbs and dentition. Neurological complications are thought to be occasional manifestations of the disorder. This report illustrates the neurological manifestations by a pedigree of two ODDD patients with spastic paraparesis, cerebral white matter hyperintensity and basal ganglia hypointensity. A systematic review of the English, French, German and Italian literature on ODDD is also provided to summarize the neurological manifestations of the disorder. 243 previously described ODDD cases presented a spectrum of neurological manifestation including spasticity (25), subcortical white matter lesions (9) and basal ganglia changes (6) on MRI. Additional findings consisted of gaze palsy and squinting (28), bladder and bowel disturbances (21), visual loss (20) and blindness (4), hearing loss (15), ataxia (11), nystagmus (9), muscle weakness (5) and paresthesias (3). Neurological manifestations, including spasticity associated with MRI changes, are an underrecognized feature in the ODDD phenotype. A clinical guide to the neurological manifestations of ODDD may assist in the assessment of patients with this condition.

Objectives: To investigate the efficacy of botulinum toxin A (BTA)-induced chemodenervation of the upper esophageal sphincter (UES) in patients with dysphagia and UES dysfunction. Study Design: Prospective clinical trial in 10 selected patients with pure UES dysfunction. Methods: In each patient 30 units of BTA were injected into the UES under brief general anesthesia. Videofluoroscopic swallowing s tudy (VSS) was done and a clinical symptom score was determined before and after treatment. Results: On VSS relative opening of the UES improved in all pa· tients (mean± SD: 47 ± 14% before versus 71 ± 24% after treatment; P < .01). Hypopharyngeal retention or laryngeal penetration of barium was significantly reduced in four of seven patients. Clinical symptom scores improved in all patients. One patient was free of symptoms, mild dysphagia persist ed in six patients, and moderate dysphagia persisted in three patients. Conclusions: Our results support the u se of BTA in selected patients with pure UES dysfunction. Its efficacy is limited by the possibility of a persistent s tructural stenosis of the UES and the risk ofBTA diffusion into the larynx or hypopharynx.

We compared the value of 3D time-of-flight (TOF) and phase-contrast (PC) MR angiography (MRA) for detection and grading of intracranial vascular steno-occlusive disease. Unenhanced 3D-TOF MRA and 3D-PC MRA (30-60 cm/s velocity encoding) were performed at the level of the circle of Willis in 18 patients, mean age 56 +/- 10 years. Postprocessed images using a maximum-intensity projection reconstruction with multiple targetted projections were analysed. A total of 126 vessels was assessed by PC MRA and 143 by TOF MRA, with digital subtraction angiography (DSA) in 15 patients and/or transcranial Doppler sonography (TCD) in 18 as a standard. Two blinded readers reviewed the MRA, DSA and TCD examinations retrospectively. On DSA and/or TCD the two observers found 32 and 28 steno-occlusive lesions. 3D-TOF MRA was more sensitive than 3D-PC MRA (87% and 86% vs. 65% and 60%) and had a higher negative predictive value (96% vs. 89%). Correct grading of stenoses was achieved in 78 % by 3D-TOF and 65% by 3D-PC MRA.

Dissection of the carotid and vertebral arteries is a not so uncommon cause of stroke and has to be considered as a differential diagnosis especially in younger patients. Therapeutic and prognostic implications are different from those in extracranial atherosclerotic disease. Dissection results from hemorrhage into the vessel wall usually between the layers of the media. Digital subtraction angiography (DSA) depicts the resulting luminal compromise that may reveal some typical, but not specific, findings. The same is true for non-invasive angiographic techniques such as time-of-flight magnetic resonance angiography (MRA) and computed tomography angiography (CTA), which have shown accurate results compared with DSA. The main advantage of these techniques is the direct visualization of the vessel wall confirming the intramural hematoma. This is achieved best with MR imaging due to the high signal of blood degradation products on T1- and T2-weighted images. Therefore, MRI in combination with MRA is presently the method of choice for initial diagnosis and follow-up of craniocervical artery dissection (CCAD). In some questionable cases, CTA is a non-invasive alternative that is independent of flow phenomena.