[A patient with recurrent multiloculated hydrocephalus after Cryptococcal ventriculitis].

We report here a rare case of adult-onset multiloculated hydrocephalus (MLH) after Cryptococcal meningitis. A 63-year-old man had Cryptococcal ventriculitis in 2011, and he recovered with treatment of antimycotic drugs. However, he was admitted again because of disorientation and amnesia, and brain MRI showed dilation of the inferior horn of the left lateral ventricle. He underwent a ventriculoperitoneal shunt (VPS) for noncommunicating hydrocephalus in 2019, and the disorientation and amnesia improved. One year after the VPS, he was admitted because of urinary dysfunction and gait disturbance. Brain MRI showed dilation of the bilateral anterior horns of the lateral ventricles. He underwent an additional VPS into the space in 2020, and urinary dysfunction and gait disturbance improved. This case was supposed that the symptom in agreement with the dilated ventricle by MLH was shown.

Novel GARS mutation presenting as autosomal dominant intermediate Charcot-Marie-Tooth disease.

We report the first family with a glycyl-tRNA synthetase (GARS) mutation with autosomal dominant intermediate Charcot-Marie-Tooth disease (DI-CMT). The proband and the proband's father presented with gait disturbance and hand weakness. Both patients displayed moderately decreased conduction velocities (MNCV) (ranging from 29.2 to 37.8 m/s). A sural nerve biopsy of the father revealed evidence of both axonal loss and demyelination. On exome sequencing, in both the proband and his father, we identified a novel missense mutation (c.643G > C, p.Asp215His) in the GARS gene in a heterozygous state, which is considered to be pathogenic for this DI-CMT family. The present study broadens current knowledge about intermediate CMT and the phenotypic spectrum of defects associated with GARS.

Multiple pseudofractures due to Fanconi's syndrome associated with Wilson's disease.

We report a 40-year-old man who presented with multiple bone pseudofractures after about 20 years from the onset of Wilson's disease (WD). At age 36, he first noticed pain in his left shoulder. At age 39, he had multiple chest pain. On neurologic examinations, dysarthria and dysphagia due to pseudobulbar palsy, rigidity and tremor on right upper lim were observed. WD was confirmed because of low levels of plasma cupper and ceruloplasmin in addition to ATP7B gene mutation. The chest X-ray revealed multiple fractures of the several ribs. We diagnosed osteomalacia due to Fanconi's syndrome because of hypophosphatemia and the impairment of renal tubules for WD. After administration of vitamin D, there happened no new bone pseudofractures. Although bone pseudofractures accompanied by Wilson's disease generally happen in childhood, we should be aware of this symptom even in adulthood.

[A Case of Acute Limbic Encephalitis with Sjögren's Syndrome].

A 52-year-old woman developed abnormal behavior and disturbance of consciousness subsequent to several days with a cold. On admission, she was very confused, with incoherent speech, and an inability to recognize family faces. Diffusion weighted MRI showed high intensity signal change in the bilateral medial temporal lobes, including the hippocampus. Cerebrospinal fluid examination was normal. Tests including various viral antibody titers provided no evidence of infection. Several neuronal antibodies including anti-VGKC and -NMDA receptor antibody were absent. Evidence of malignancy was not apparent. She was diagnosed with acute limbic encephalitis complicated by Sjögren's syndrome (SjS), due to the fact that she had a past history of SjS, elevation of anti-SS-A antibody, pleuritis and pericarditis. Her symptoms gradually improved after administration of steroids including pulse therapy; however, her amnesia remained for a long time. In diagnosing acute limbic encephalitis, we should consider SjS as an underlying disease, even though it is rare.