A 36-year-old Spanish man, with a background of ketamine use, presented with a 10-day history of severe headache, photophobia, nausea, unsteadiness and slurring of speech. His CT head was normal. CSF white cell count was 151 (lymphocytes), protein 0.7, glucose 2.3 (serum 3.6). He was treated with IV acyclovir for two weeks with no clinical improvement.On examination he remained distressed by headache and photophobic with severe dysarthria, bidirec- tional nystagmus and ataxia.Blood tests were normal or negative including HIV, serology for syphilis, mycoplasma, lyme and brucella, ANA, ENA, dsDNA, ANCA, ACE, LGI1 and NMDA antibodies, anti-Hu, Ri and Yo. IGRA was positive. MRI brain scan was normal. Serial lumbar punctures showed a variable CSF white cell count, with a negative extended virology panel, TB PCR, bacterial cultures, cytology and immunophenotyping.There was no improvement with pulsed steroids or antimicrobial cover for listeria. After 5 plasma exchanges there was some improvement in his CSF white cell count and headache, but he remained very ataxic.An extended paraneoplastic panel revealed positive anti-Tr antibodies. This is a well recognised cause of paraneoplastic cerebellar degeneration, normally associated with Hodgkin’s lymphoma. There have been no previous reported cases of anti-Tr antibodies associated with meningitic symptoms.
define a new subgroup of schizophrenia, often associated with obsessivecompulsive disorder. 1 Here, we described a proband with a de novo variant in SETD1A [NM_014712.3:exon8: c.2120_2121insA (p.Gly708Argfs*117)] identified by whole-exome sequencing. The main manifestations of the proband were moderate global developmental delay, epilepsy, hypotonia, short stature, special facial features, hemangioma, toe deformity, white matter dysplasia, and ventricular dilation. Several studies have shown that individuals with SETD1A variants may have unique characteristics, including epilepsy, general developmental delay, and minor facial deformities (Table 1). [2][3][4] Compared with previous reports, our case showed novel phenotypes such as macrocephaly, hypertrichosis, stubby fingers, and unique face and toe deformities, namely, the facial features, trunk, and limbs on the left side were relatively smaller than that on the right. In addition, our patient had no obvious speech development disorder or behavioral abnormality. Levetiracetam is effective in the treatment of seizures in our case. In addition, there was another report that showed phenobarbital to improve SETD1A-related epilepsy. 4 This case enriches our understanding of SETD1A-related neurodevelopmental disorders, expanding the phenotype and genotype spectrum. Through literature review, we also found that the truncating variants were more severe in clinical phenotypes, most of which were accompanied by mental and behavioral disorders, facial deformities, and short stature. This case provides valuable information for clinical diagnosis and genetic counseling.
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