Thalamic and cerebellar hypermetabolism and cortical hypometabolism during absence status epilepticus.

We report on a 17-year-old girl with absence status epilepticus who developed recurrent motionless confusional state and continuous generalised 3-4 Hz rhythmic delta waves on electroencephalogram (EEG). The patient had no history of absence, myoclonus or generalised convulsion. Her seizure was resistant to a combination of antiepileptic drugs including carbamazepine. Ictal positron emission tomography using [18F]fluorodeoxyglucose ([18F]FDG-PET) revealed hypermetabolism of the bilateral thalamus and cerebellum and hypometabolism of the frontal, parietal and posterior cingulate cortices. We diagnosed her seizure as absence status and obtained remission by changing medication. The findings of ictal metabolic alteration in previous studies and in our case confirm the pathogenic importance of the thalamus in absence status and that associated cortical deactivation and cerebellar activation may be related to the generation or maintenance of epileptic EEG discharges.

Postpartum Anti-N-methyl-D-aspartate Receptor Encephalitis: A Case Report and Literature Review.

We describe a 24-year-old woman with anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis that developed 3 weeks after normal delivery. She was treated with methylprednisolone, intravenous immunoglobulin, and plasmapheresis, in addition to teratoma excision. However, her recovery was slow, and dysmnesia and mental juvenility persisted even two years after onset. To date, five patients with postpartum anti-NMDAR encephalitis have been reported. All of those patients showed psychotic symptoms and were suspected of having postpartum psychosis in the early period of the encephalitis. Changes in hormonal factors, modification of immune tolerance, or retrograde infection of the ovary may be contributing factors for postpartum anti-NMDAR encephalitis.

Clinico-Radiological Characteristics and Pathological Diagnosis of Cerebral Amyloid Angiopathy-Related Intracerebral Hemorrhage.

OBJECTIVE: We aim to clarify the clinico-radiological characteristics of cerebral amyloid angiopathy-related intracerebral hemorrhage and to investigate the efficacy of pathological diagnosis using biopsy specimens. METHOD: We retrospectively reviewed 253 consecutive patients with cortico-subcortical hemorrhage who had been admitted to Aizawa Hospital between January 2006 and July 2013. We had performed craniotomy and hematoma evacuation in 48 patients, as well as biopsy of the evacuated hematoma, cerebral parenchyma adjacent to the hematoma, or both, and they were classified according to the histological results (positive or negative for vascular amyloid deposition) and to the Boston criteria. We compared the clinico-radiological characteristics of cerebral amyloid angiopathy-related intracerebral hemorrhage. We also investigated the detection rate of cerebral amyloid angiopathy with respect to the origins of the specimens. RESULTS: Pathological examination revealed that 22 subjects were positive for vascular amyloid. The number of the cerebral microbleeds located in the deep or infratentorial region was significantly larger in the negative group than in the positive group (P <.05). There was no significant difference in the distribution of lobar cerebral microbleeds and in the prevalence of hypertension. In the probable cerebral amyloid angiopathy-related intracerebral hemorrhage patients, the probability of having vascular amyloid detected by biopsy of both hematoma and parenchyma was 100%. Rebleeding in the postoperative periods was observed in 2 cases (9.1%) of the positive group. CONCLUSIONS: Our results demonstrate the importance and safety of biopsy simultaneously performed with hematoma evacuation. Deep or infratentorial microbleeds are less correlated with cerebral amyloid angiopathy-related intracerebral hemorrhage than with noncerebral amyloid angiopathy-related intracerebral hemorrhage.

Carpal tunnel syndrome: a common initial symptom of systemic wild-type ATTR (ATTRwt) amyloidosis.

BACKGROUND: Systemic wild-type ATTR (ATTRwt) amyloidosis is a prevalent aging-related disorder. However, a limited number of systemic ATTRwt amyloidosis patients have been diagnosed antemortem, and therefore, the prevalence of ATTRwt is underestimated. Here, we investigated clinical findings of a series of systemic ATTRwt amyloidosis patients with antemortem diagnosis. METHODS: Thirty-one consecutive patients diagnosed with systemic ATTRwt amyloidosis at Shinshu University Hospital were included in this study. Systemic ATTRwt amyloidosis was diagnosed based on proven ATTR amyloid deposition in biopsy specimens and confirmation of wild-type TTR genotype. RESULTS: The systemic ATTRwt amyloidosis patients consisted of 24 men and seven women, and mean age of onset was 69.8 ± 9.0 years. The most common initial symptom was carpal tunnel syndrome (CTS, 17 patients), followed by heart failure symptoms (14 patients). The mean age at diagnosis was 74.5 ± 8.3 years and the duration of illness from onset to diagnosis was 5.4 ± 4.4 years. Cardiogenic embolism and renal dysfunction are also frequently seen during the course of the disease. CONCLUSIONS: CTS is the most common initial symptom of systemic ATTRwt amyloidosis. Our results suggest the possibility of systemic ATTRwt amyloidosis diagnosis at an early stage by carefully examining patients with CTS.

Clinical characteristics and etiology of transient myoclonic state in the elderly.

OBJECTIVES: To clarify clinical picture of transient myoclonic state in elderly patients. METHODS: The Aizawa Hospital database was searched to identify all patients with transient myoclonic state with or without asterixis between April 2006 and June 2013. Medical records, brain images and laboratory data including electroencephalograms and electromyograms were reviewed. RESULTS: We found 26 patients: 10 women and 16 men, and their ages ranged from 56 to 96 years (79.7 ± 9.9 years, mean ± standard deviation). The affected sites of the myoclonic jerks were predominantly the lower face, neck and upper extremities. The myoclonus appeared at conscious resting condition, slightly exaggerated by posturing or action. Asterixis was observed in eight patients. Single myoclonic bursts were 1.70 ± 0.94 s long. The interval of myoclonic bursts was 4.47 ± 2.44 s. Single myoclonic bursts were composed of 9.5 ± 2.5 Hz myoclonic contractions, and single myoclonic contractions were 44.4 ± 12.3 ms in duration. Most of the patients suffered from chronic diseases, but they were basically independent in activity of daily living. Oral administration of clonazepam was effective. CONCLUSIONS: Transient myoclonic state has relatively stereotyped features. The pathophysiology may include some metabolic abnormality on a background of age-related arteriosclerotic changes. Its prognosis is benign, and prompt oral administration of clonazepam abolishes it. Further investigations will be needed to clarify its cause and pathophysiology.

Treatment of myasthenia gravis with dropped head: a report of 2 cases and review of the literature.

We report two patients with myasthenia gravis (MG) who showed dropped head as an early myasthenic manifestation. They had elevated anti-acetylcholine receptor antibody and showed improvement of the symptoms after intravenous injection of edorophonium chloride. One patient had thymoma and developed myasthenic crisis two weeks after thymectomy. The patient recovered from the crisis after a combination of immunoadsorption plasmapheresis (IAPP) and initiation of steroid and tacrolimus. The other patient without thymoma initiated treatment with steroid, tacrolimus and IAPP and showed complete recovery one month later. Dropped head in MG can recover well with immunosuppression therapy using steroid, and IAPP is helpful in getting a rapid improvement of dropped head as well as recovery from myasthenic crisis. When we consider treatment for MG with dropped head, we should take into account that MG of this type can develop myasthenic crisis and use the same treatment strategy as that for generalized MG.

Bilateral hypogeusia caused by a small lesion in the lower midbrain tegmentum.

We report a case with multiple sclerosis which showed bilateral hypogeusia due to a small lesion in the lower midbrain tegmentum. Sweet taste was diminished only on the contralateral side in the territory of the chorda tympani, and salty, sour and bitter tastes were diminished bilaterally. All taste modalities were preserved in the territory of the greater petrosal nerve. The findings in our patient and in the literature suggest that the second gustatory fibres ipsilaterally ascend from the nucleus of the solitary tract to the midbrain and partially cross at the inferior border of the midbrain. The features of hypogeusia in our case suggest segregated channels in the gustatory pathway conveying taste perception of distinct taste modalities and from distinct innervation territories.

Paradoxical surge of corticotropin after glucocorticoid replacement in central adrenal insufficiency.

A 78-yr-old man was admitted in emergency with fatigue, anorexia, vomiting, hypothermia (35.1 °C on a hot August day), hypotension (89/56 mmHg) and hyponatraemia (126 mEq/l). Plasma corticotropin and cortisol were severely depressed: 0.84 pmol/L and 33.1 nmol/L respectively (reference range, 1.5-13.9 pmol/L and 110-505 nmol/L, respectively). Thyroid stimulating hormone was low-normal and free-triiodothyronine and free-thyroxine were subnormal. Magnetic resonance imaging revealed swelling of the pituitary gland and the stalk. The patient recovered after glucocorticoid replacement (200 mg/day intravenous hydrocortisone on Day 1 followed by tapering). Central diabetes insipidus which had become apparent had been treated with 1-desamino-8-D-arginine vasopressin. A surge of corticotropin and cortisol, 19.4 pmol/L and 712.1 nmol/L respectively, was found on Day 5 when luteinizing hormone, follicle stimulating hormone, and testosterone were subnormal and prolactin was slightly elevated. Subsequently, corticotropin and cortisol levels normalized together with normalization of luteinizing hormone, follicle stimulating hormone, anti-diuretic hormone, thyroid stimulating hormone, prolactin, testosterone and thyroid hormone levels. Shrinkage of the pituitary gland occurred after one month. Serum immunoglobulin G4 was elevated (3.21 and 6.02 g/l at 1- and 3-month follow-ups respectively). In conclusion, a paradoxical surge of corticotropin after glucocorticoid replacement was observed in a patient with central adrenal insufficiency due to immunoglobulin G4-related hypophysitis. Surge of ACTH in central adrenal insufficiency after glucocorticoid replacement has rarely been reported, and this is the second such case report.