GCH1 mutations in dopa-responsive dystonia and Parkinson's disease.

Guanosine triphosphate cyclohydrolase I (GCH1) mutations are associated with increased risk for dopa-responsive dystonia (DRD) and Parkinson's disease (PD). Herein, we investigated the frequency of GCH1 mutations and clinical symptoms in patients with clinically diagnosed PD and DRD. We used the Sanger method to screen entire exons in 268 patients with PD and 26 patients with DRD, with the examinations of brain magnetic resonance imaging scans, striatal dopamine transporter scans, and [123I] metaiodobenzylguanidine (MIBG) myocardiac scintigraphy scans. We identified 15 patients with heterozygous GCH1 mutations from seven probands and five sporadic cases. The prevalence of GCH1 mutations in probands was different between PD [1.9% (5/268)] and DRD [26.9% (7/26)] (p value < 0.0001). The onset age tends to be different between PD and DRD patients: 35.4 ± 25.3 and 16.5 ± 13.6, respectively (average ± SD; p = 0.08). Most of the patients were women (14/15). Dystonia was common symptom, and dysautonomia and cognitive decline were uncommon in our PD and DRD. All patients presented mild parkinsonism or dystonia with excellent response to levodopa. Seven of seven DRD and three of five PD presented normal heart-to-mediastinum ratio on MIBG myocardial scintigraphy. Five of six DRD and three of four PD demonstrated normal densities of dopamine transporter. Our findings elucidated the clinical characteristics of PD and DRD patients due to GCH1 mutations. PD patients with GCH1 mutations also had different symptoms from those seen in typical PD. The patients with GCH1 mutations had heterogeneous clinical symptoms.

Body Lateropulsion and Cerebellar Tremor in a Patient with Pontine Infarction.

Body lateropulsion is known to be caused commonly by lateral medullary lesions but rarely by pontine lesions. It is also known to be associated with lesions of the dorsal spinothalamic tract or ascending graviceptive pathways. We herein report the case of a 75-year-old woman presenting with contralateral lateropulsion and cerebellar tremor caused by pons infarction. To our knowledge, this is the first case report of pontine infarction causing both lateropulsion and cerebellar tremor. Our case may be helpful in anatomical studies of ascending graviceptive pathways.

The first case of POEMS syndrome with synchronous breast cancer: What are the associated diagnostic challenges?

Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal gammopathy, Skin changes (POEMS) syndrome is a rare plasma cell disorder that causes a paraneoplastic syndrome. We report the first case of POEMS syndrome with synchronous breast cancer. The patient was at risk of being misdiagnosed with metastatic cancer, and it is important to emphasize that physical examinations provided vital diagnostic clues.

Cerebral Venous Air Embolism due to a Hidden Skull Fracture Secondary to Head Trauma.

Cerebral venous air embolism is sometimes caused by head trauma. One of the paths of air entry is considered a skull fracture. We report a case of cerebral venous air embolism following head trauma. The patient was a 55-year-old man who fell and hit his head. A head computed tomography (CT) scan showed the air in the superior sagittal sinus; however, no skull fractures were detected. Follow-up CT revealed a fracture line in the right temporal bone. Cerebral venous air embolism following head trauma might have occult skull fractures even if CT could not show the skull fractures.

[Abnormalities on diffusion-weighted magnetic resonance imaging in patients with transient ischemic attack].

We studied abnormalities on diffusion-weighted magnetic resonance imaging (DWI) in patients with transient ischemic attack (TIA). Out of 18 consecutive TIA patients, 9 patients had relevant focal abnormalities on DWI. Among TIA patients, six patients were associated with atrial fibrillation (Af), and all of these patients had focal abnormalities on DWI as well. TIA patients with Af had significantly more frequent focal abnormalities on DWI than those without Af (p = 0.009; Fisher's exact probability test). In addition, the duration of TIA symptoms was not related to the presence of focal abnormalities on DWI. These results indicate that embolic mechanism may cause focal abnormalities on DWI. DWI was more sensitive to detect responsible ischemic lesions in these patients than T2-weighted image or fluid-attenuated inversion recovery image.