We report a 13-year-old Japanese female with ovarian teratoma due to anti-NMDAR encephalitis. The patient was admitted with psychiatric symptoms, including memory impairment, insomnia, binge eating and mouth and hand twisting, associated with constipation. Serum alphafetoprotein and neopterin levels were elevated 102 ng/mL and 19 pmol/mL, respectively. Electroencephalography showed epileptic spikes in frontal and temporal regions. Cerebrospinal fluid (CSF) examination exhibited a pleocytosis. Thereafter, her consciousness level immediately worsened. Brain magnetic resonance imaging (MRI) noted hyper intense lesions in bilateral hippocampi, she was diagnosed with limbic encephalitis. Abdominal echogram showed a solid right ovarian tumour. and also confirmed as a tumour by abdominal MRI. The next day, right ovariectomy was performed and she treated two courses of methyl-prednisolone steroid pulse with high-dose immunoglobulins. Later days, CSF analysis revealed anti- NMDAR antibodies. Pathological diagnosis of the tumour was immature round shaped grade 3 ovarian teratoma, measuring 11cm. Two years follow up after admission, she completely recovered and no neurological sequelae.
Globally, vaccination has reduced the prevalence of meningitis caused by Streptococcus pneumoniae Neisseria meningitidis, and Haemophilus influenzae. However, neonatal Group B Streptococcus (GBS) meningitis continues to remain a problematic infection of the central nervous system. Here, we report a case of bacterial meningitis in a 34-day old male baby who presented with fever. A cerebrospinal fluid (CSF) test on the day of admission showed an increase in cell count with decreased glucose level. A rapid latex test of the CSF using a commercial kit diagnosed the causative pathogen as GBS. We administered the antibiotics ampicillin, cefotaxime, gentamicin and panipenem/betamipron to the patient for over 14 days. Partial seizures were frequently observed during the course and were well-controlled with midazolam and phenobarbital. Brain magnetic resonance imaging on day 17 showed subdural hygroma in the frontal region, and 99mTc ethyl-cysteinate dimer-single photon emission computed tomography confirmed a decreased cerebral blood flow predominantly in the left frontal region. After three years of follow-up, the condition of the patient improved without any neurological sequelae. Our report highlights that rapid identification of the causative organism is essential in infantile late-onset meningitis. In addition, we consider that the latex kit-based rapid testing of CSF is beneficial for identifying the causative agent of bacterial meningitis.
We describe four families with affected siblings showing unique clinical features: early-onset (before 1 year of age) progressive diffuse brain atrophy with regression, postnatal microcephaly, postnatal growth retardation, muscle weakness/atrophy, and respiratory failure. By whole-exome sequencing, we identified biallelic TBCD mutations in eight affected individuals from the four families. TBCD encodes TBCD (tubulin folding co-factor D), which is one of five tubulin-specific chaperones playing a pivotal role in microtubule assembly in all cells. A total of seven mutations were found: five missense mutations, one nonsense, and one splice site mutation resulting in a frameshift. In vitro cell experiments revealed the impaired binding between most mutant TBCD proteins and ARL2, TBCE, and β-tubulin. The in vivo experiments using olfactory projection neurons in Drosophila melanogaster indicated that the TBCD mutations caused loss of function. The wide range of clinical severity seen in this neurodegenerative encephalopathy may result from the residual function of mutant TBCD proteins. Furthermore, the autopsied brain from one deceased individual showed characteristic neurodegenerative findings: cactus and somatic sprout formations in the residual Purkinje cells in the cerebellum, which are also seen in some diseases associated with mitochondrial impairment. Defects of microtubule formation caused by TBCD mutations may underlie the pathomechanism of this neurodegenerative encephalopathy.