Increased Neurofilament Light Chain and YKL-40 CSF Levels in One Japanese IBMPFD Patient With VCP R155C Mutation: A Clinical Case Report With CSF Biomarker Analyses.

Inclusion body myopathy (IBM) with Paget's disease of bone (PDB) and frontotemporal dementia (IBMPFD) presents with multiple symptoms and an unknown etiology. Valosin-containing protein (VCP) has been identified as the main causative gene of IBMPFD. However, no studies on neurofilament light chain (NFL) as a cerebrospinal fluid (CSF) marker of axonal neurodegeneration or on YKL-40 as a CSF marker of glial neuroinflammation have been conducted in IBMPFD patients with VCP mutations. A 65-year-old man presented with progressive muscle atrophy and weakness of all limbs, non-fluent aphasia, and changes in personality and behavior. Cerebral MRI revealed bilateral frontal and temporal atrophy. 99mTc-HMDP bone scintigraphy and pelvic CT revealed remodeling changes and active osteoblastic accumulations in the right medial iliac bone. Muscle biopsy demonstrated multiple rimmed vacuoles in muscle cells with myogenic and neurogenic pathological alterations. After the patient was clinically diagnosed with IBMPFD, DNA analysis of the VCP gene revealed a cytosine (C) to thymine (T) (C→ T) mutation, resulting in an amino acid exchange of arginine to cysteine (p.R155C mutation). The CSF levels of NFL at two time points (12 years apart) were higher than those in non-dementia controls (CTR) and Alzheimer's disease (AD); lower than those in frontotemporal dementia with motor neuron disease (FTD-MND); and comparable to those in patients with behavioral variant frontotemporal dementia (bvFTD), progressive supranuclear palsy (PSP), and corticobasal syndrome (CBS). The CSF levels of YKL-40 were comparable at both time points and higher than those in CTR; lower than those in FTD-MND; and comparable to those in bvFTD, PSP, CBS, and AD. The CSF levels of phosphorylated tau 181 (P-Tau) and total tau (T-Tau) were not significantly different from those in CTR and other neurodegenerative diseases, except those in AD, which were significantly elevated. This is the first report that demonstrates increased NFL and YKL-40 CSF levels in an IBMPFD patient with a VCP mutation (p.R155C); NFL and YKL-40 levels were comparable to those in bvFTD, PSP, CBS, and AD and higher than those in CTR. Our results suggest that IBMPFD neuropathology may involve both axonal neurodegeneration and glial neuroinflammation.

[Case report of effective intravenous immunoglobulin for lower limbs pain in steroid-resistant eosinophilic granulomatosis with polyangiitis].

We report a 58-year-old woman with bronchial asthma. The onset of the disease was marked by numbness in the right lower extremity, for which she was hospitalized 10 days later. The patient presented with sensory impairment and muscle weakness in the distal regions of both lower limbs, acute pain, purpura, and a leukocyte count of 2.4 × 10(4)/µl (59.2% eosinophils). Nerve conduction tests revealed a decrease in the amplitude of the compound muscle action potential in all 4 extremities. Skin biopsy results led to the diagnosis of eosinophilic granulomatosis with polyangiitis (EGPA). Steroid pulse therapy and oral steroid therapy were initiated but did not resolve the acute pain or numbness. However, intravenous immunoglobulin (IVIg) was administered at day 28 after the beginning of the steroid treatment, and the pain started to improve immediately afterward. In some cases, IVIg can be effective in the treatment of intense pain in peripheral neuropathy associated with steroid-resistant EGPA.

Predictors of outcome in hypoglycemic encephalopathy.

AIMS: The aim of this study was to investigate factors predicting poor prognosis in patients with hypoglycemic encephalopathy. METHODS: We retrospectively analyzed data on 165 consecutive patients with hypoglycemic encephalopathy. We evaluated their outcome 1 week after hypoglycemia onset using the Glasgow outcome scale (GOS) and compared the clinical features of patients with good outcomes (GOS = 5) and poor outcomes (GOS ≤ 4). RESULTS: The poor-outcome group included 38 patients (23%). The initial blood glucose level in the poor-outcome group was lower than that in the good-outcome group (p = 0.002). The duration of hypoglycemia in the poor-outcome group was longer than that in the good-outcome group (p < 0.001). Body temperature during hypoglycemia in the poor-outcome group was higher than that in the good-outcome group (p < 0.001). Furthermore, lactic acid level in the poor-outcome group was lower than in the good-outcome group (p = 0.032). There was no significant difference in the frequency of posttreatment hyperglycemia between the good-outcome and poor-outcome groups (p = 0.984). CONCLUSION: Profound and prolonged hypoglycemia, normal or higher body temperature, and a low lactic acid level during hypoglycemia may be predictors of a poor outcome in patients with hypoglycemic encephalopathy.

[Patient with encephalitis presenting with olanzapine-responsive malignant catatonia].

We report the case of a 29-year-old man, who could not remember some words of Kanji and showed emotional instability. Magnetic resonance imaging (MRI) scan of his brain appeared normal. Cerebrospinal fluid (CSF) analysis showed lymphocytic pleocytosis. An electroencephalogram (EEG) showed slow activities in both frontal regions of the brain. He was diagnosed as acute encephalitis. On his fourth hospital day, he was found to be catatonic and showed mutism, akinetism, and catalepsy. On the ninth day, he showed hyperpyrexia, muscle rigidity, difficulty in swallowing, respiratory insufficiency, and rhabdomyolysis (creatine phosphokinase (CK), 3038 IU/l). He was diagnosed as malignant catatonia. Intravenous administration of acyclovir, high-dose methylprednisolone, antibiotics, diazepam, and dantrolene sodium was not effective. After initiating oral administration of olanzapine, his condition improved.

Epileptic seizure, cataract, and tongue atrophy during the 8 years after electrical brain injury.

As a delayed neurologic complication following a high-voltage electrical injury, motor neuron disease-like spinal cord injury has often been reported. However, epileptic seizure as a delayed complication of electrical brain injury has not been reported. We report a 32-year-old man, who developed epilepsy 8 years after electrical brain injury. His electroencephalogram (EEG) recordings showed focus on the right side, in which the electrical current passed during the accident eight years earlier. He experienced cataract during these 8 years. On examination, the right side of his tongue was found to be atrophic, and he was unaware when it had started. Systemic EMG examination revealed neuropathic changes in both (interossei dorsalis) IODs, the right biceps, right tongue, and right masseter muscles.

[Acute encephalopathy among patients with renal dysfunction after ingestion of "sugihiratake", angel's wing mushroom--study on the incipient cases in the northern area of Niigata Prefecture].

An outbreak of acute encephalopathy among 6 patients with renal dysfunction after eating "Sugihiratake" mushroom in the northern area of Niigata Prefecture was reported. All of the patients had varying degrees of renal dysfunction, and 3 of them were on dialysis treatment. Patients initially presented with shaking limbs and difficulty in walking. Several days later, disturbances in consciousness developed, which were followed by status epileptics. Four patients were put on mechanical ventilation for seizure control. Two of the 6 cases died. CSF examination showed elevated protein without pleocytosis; bacterial, rickettsial and viral screenings was negative. Brain CT and MRI studies showed edema in the claustrum and external capsule, and in the white matter of the base of the frontal, parietal, and temporal lobes. No common drug administration was recognized. All of the patients had a history to have ingested "Sugihitarake" mushroom (angels' wing mushroom, pleurocybella porrigens) in varying quantities and frequencies prior to the onset of the illness. This mushroom may have induced toxic encephalopathy although no similar case have been reported in the past.

[A case of acute encephalopathy due to datura seed poisoning].

A 83 year-old-man presented with a stuporous state. He ingested datura seeds approximately 1.5 hour before the onset of the symptom. On arrival at our emergency clinic 2 hours and 40 minutes after the ingestion, he was semi-comatose with intermittent tonic convulsive seizures. The pupils were fully-dilated and unreactive, and salivation was decreased. He showed hypohidrosis and exaggerated deep tendon reflexes with positive Babinski's sign. His body temperature was 37.6 degrees C, and blood pressure was 167/99 mmHg. After gastrolavage and administration of charcoal and cathartics, his pupil became reactive to light, and he became alert gradually. His consciousness became clear 24 hours after seed ingestion and discharged with no residual neurological signs.

[Pergolide-induced pleural effusion in a patient with juvenile parkinsonism].

A male patient with juvenile parkinsonism having been treated with pergolide developed pleural effusion. Treatment of pergolide started when the patient was 49. And the symptom appeared 11 years later. The patient had no history of heart disease, chronic cough, or lung tuberculosis. His medications included pergolide 1,000 micrograms/day for the past 7 years. Pergolide had been used since 1990 at the maximum dosage of 2,250 micrograms/day. Chest radiogram showed pleural effusion in the right lung. Parenchymal changes and thickened pleura were observed in the left lung. CT scan of the chest showed encapsulated pleural effusion and atelectasis in the mid and lower zones of the right lung. Interstitial fibrosis and pleural thickening were observed in the left lung. Pleuropulmonary changes are rare adverse effects of pergolide treatment, although they were described in other dopamine agonists such as bromocriptine. The author recommends that patients with parkinsonism who receive pergolide treatment should be regularly monitored for the development of pleuropulmonary complications.