Cricopharyngeal bar on videofluoroscopy: high specificity for inclusion body myositis.

OBJECTIVE: To determine the prevalence and characteristics of the cricopharyngeal bar (CPB), defined as marked protrusion with lacking relaxation and stricture of the upper esophageal sphincter on videofluoroscopy, in patients with inclusion body myositis (IBM). METHODS: We conducted a case-control study of comprehensive series of adult healthy individuals and consecutive patients with neuropsychiatric disorders aged over 45 (52 versus 2486). A standard videofluoroscopy was performed. RESULTS: Overall, 47 individuals with CPB were identified. Of the individuals with CPB, 36% were IBM followed by neurodegenerative disorders, muscular disorders, neuromuscular disorders, and others (32%, 21%, 2.1%, and 8.5%, respectively), indicating the heterogeneity of the etiologies. Against muscular disorders, the sensitivity and specificity of the CPB for IBM were 33% (= 17/52; 95% confidence interval [CI], 20-45%) and 96% (= 264/274; 95% CI, 94-99%), respectively. IBM with CPB showed a higher frequency of obstruction-related dysphagia (88% versus 22%, p < 0.001) and severe CPB (76% versus 23%, p < 0.001) than the control with one. The ratio of the upper esophageal distance at the maximum distension at the level of C6 to that of C4 was lower in IBM with CPB than in the controls with one (0.50 versus 0.77, p < 0.001), which suggests the insufficient opening of the upper esophageal sphincter. CONCLUSION: A CPB could be indicative of IBM. The upper esophagus in IBM with CPB became narrow, like a bottleneck. We provide new perspectives of dysphagia diagnosis by videofluoroscopy, especially for IBM-associated dysphagia, to expand the knowledge on the CPB.

A case of familial amyloid polyneuropathy (FAP ATTR Ile107Val) with proximal muscle weakness in the lower extremities.

Proximal dominant muscle weakness is rare in transthyretin (TTR)-related familial amyloid polyneuropathy (FAP). A 69-year-old Japanese man developed numbness and dysesthesia of the first, second and third digits of both hands since 2008. He presented to our hospital with one year history of progressive proximal muscle weakness in the lower extremities since 2013. Neurological examinations revealed predominant proximal muscle weakness and atrophy with areflexia in the lower extremities, decreased superficial sensation in the first, second and third fingers of both hands, and decreased superficial and deep sensation in the lower extremities. Nerve conduction studies revealed an axonal degeneration type of sensorimotor polyneuropathy and bilateral carpal tunnel syndrome. Electromyogram revealed acute and chronic neurogenic changes predominantly in proximal muscles. We performed biopsy of the left quadriceps muscle and observed neurogenic changes in the muscle tissue and an amyloid deposition in the adipose tissue. This amyloid deposition was not seen in endomysium, perimysium and blood vessels. Genetic analysis of the TTR gene revealed the patient was heterozygous for a single nucleotide substitution c.379 A>G, which resulted in the replacement of valine with isoleucine at position 107 of the mature protein. We diagnosed his condition as FAP with Amyloid Transthyretin (ATTR) Ile107Val.

[A case of heat stroke showing abnormal diffuse high intensity of the cerebral and cerebellar cortices in diffusion weighted image].

Cerebellar ataxia is most neurological sequelae in heat stroke. Heat stroke with cerebral cortical lesions is very rare. A 39-year-old man was admitted to our hospital because of coma, shock status and hyperthermia on arrival and developed disseminated intravascular coagulation (DIC). Hypotension was transient and all vital signs were resumed to normal within a week. Though normal vital sign, his coma state continued throughout. A diffusion weighted image (DWI) on MRI disclosed abnormal diffuse high intensity in the cerebral and cerebellar cortex without decreased apparent diffusion coefficient (ADC). These cortical changes were supported to the vasogenic edema induced by heat stroke. Four months later after the onset, the abnormal signal intensity in the cerebral and cerebellar cortex disappeared and cortical atrophy with ventricular enlargement developed. Electroencephalogram (EEG) of several times showed no electrical activities. The brain SPECT ((123)I-IMP) disclosed all over decreased blood flow. His vegetative state continued.

[A case of acute disseminated encephalomyelitis (ADEM) with an anti-galactocerebroside antibody].

Acute disseminated encephalomyelitis (ADEM) with an anti-galactocerebroside antibody is very rare. We report a case of 82-year-old man with ADEM associated with anti-galactocerebroside antibody in serum. He was admitted to our hospital after developing disturbed consciousness and respiratory failure. A cerebrospinal fluid examination disclosed an albuminocytologic dissociation and elevation of myelin basic protein. Magnetic resonance images revealed lesions in the medulla oblongata, pons, midbrain, bilateral cerebellar hemisphere and thalami. Initially, he was treated with methylprednisolone (1 g/day) for three days. His clinical symptoms improved. We found on 15(th) hospital day that an anti-galactocerebroside antibody was positive in serum without serological evidence of Mycoplasma pneumoniae infection. This case can be diagnosed as ADEM associated with an anti-galactocerebroside antibody.