[A case of swallow syncope associated with Parkinson disease].

A 73-year-old woman with Parkinson disease (PD) was admitted to our hospital because of aspiration pneumonia. She presented with recurrent episodes of loss of consciousness with bradycardia while swallowing solid foods or fluids. Upper endoscopy revealed a normal esophagus without hiatus hernia, cancer, diverticulum, stenosis, or achalasia. Balloon inflation at the cervical esophagus induced sinus arrest and bradycardia followed by a loss of consciousness. The diagnosis of swallow syncope (SS) was confirmed. Esophageal dilatation and an increase in the esophageal pressure induced by esophageal peristaltic disturbance associated with PD can cause SS by stimulating the vagal reflex. In addition, the head-up tilt test showed that she had orthostatic hypotension, and the coefficients of variations of the R-R intervals on electrocardiograms and the total number of beat-to-beat differences greater than 50 mseconds in the RR interval during a 24 hour ambulatory electrocardiogram were normal. The cardiovascular autonomic dysfunction characterized by the presence of sympathetic inhibition and a preserved parasympathetic function might be involved in the onset of SS. Permanent pacemaker implantation improved her clinical symptoms. The recognition of SS on the examination of a PD patient with loss of consciousness while eating is important, as PD patients might develop SS due to peristaltic disturbance and autonomic dysfunction caused by PD.

[Non-cirrhotic Portal-systemic Encephalopathy with Total Aphasia and Right Hemiplegia Following Transient Right Hemiparesis: A Case Report].

A 77-year-old right-handed woman without any liver diseases was admitted to our hospital because of transient right hemiparesis. She developed total aphasia with right hemiplegia on the third hospital day. We suspected that she had a cerebral infarction following a transient ischemic attack. However, brain diffusion-weighted images revealed no abnormal-intensity lesions, and cerebral angiography showed patent arteries. Additionally, her serum ammonia level was elevated. Theta waves without triphasic waves were detected by electroencephalogram. T1-weighted magnetic resonance brain images revealed high-intensity signals in the bilateral globus pallidus. Enhanced abdominal computed tomography showed a portal-systemic shunt from the splenic and inferior mesenteric veins into the left renal vein via the left ovarian vein. The administration of branched-chain amino acids and lactulose improved her clinical symptoms. We confirmed the diagnosis of non-cirrhotic portal-systemic encephalopathy (NCPSE), therefore balloon-occluded retrograde transvenous obliteration of the shunt vessel was performed. The recognition of NCPSE on the examination of a suspected stroke patient is important, as patients with NCPSE can present as stroke mimics. (Received June 26, 2017; Accepted August 22, 2017; Published February 1, 2018).

Duplication and deletion upstream of LMNB1 in autosomal dominant adult-onset leukodystrophy.

OBJECTIVE: To characterize the genetic and clinical features of patients with autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) carrying duplication and deletion upstream of lamin B1 (LMNB1). METHODS: Ninety-three patients with adult-onset leukoencephalopathy of unknown etiology were genetically analyzed for copy numbers of LMNB1 and its upstream genes. We examined LMNB1 expression by reverse transcription-qPCR using total RNA extracted from peripheral leukocytes. Clinical and MRI features of the patients with ADLD were retrospectively analyzed. RESULTS: We identified 4 patients from 3 families with LMNB1 duplication. The duplicated genomic regions were different from those previously reported. The mRNA expression level of LMNB1 in patients with duplication was significantly increased. The clinical features of our patients with LMNB1 duplication were similar to those reported previously, except for the high frequency of cognitive impairment in our patients. We found 2 patients from 1 family carrying a 249-kb genomic deletion upstream of LMNB1. Patients with the deletion exhibited relatively earlier onset, more prominent cognitive impairment, and fewer autonomic symptoms than patients with duplication. The presence of cerebellar symptoms and lesions may be characteristic in our patients with the deletion compared with the previously reported family with the deletion. Magnetic resonance images of patients with the deletion exhibited a widespread distribution of white matter lesions including the anterior temporal region. CONCLUSIONS: We identified 4 Japanese families with ADLD carrying duplication or deletion upstream of LMNB1. There are differences in clinical and MRI features between the patients with the duplication and those with the deletion upstream of LMNB1.