Dataset Information

Disseminated angioinvasive basidiobolomycosis with a favourable outcome.

ABSTRACT: Basidiobolomycosis, a rare fungal infection, is of worldwide distribution but areas commonly involved include the tropical areas of Africa, USA and South East Asia. 88% of the cases are reported among patients younger than 20 years. Many of the case reports in Saudi Arabia are from Tohama area where our patient lives. The diagnosis tends to be overlooked as the presentation may mimic colonic carcinoma in adults or inflammatory bowel diseases and tuberculosis in both children and adults. Angioinvasion seen in our patient is extremely rare suggesting the diagnosis of mucormycosis and resulting in a delay in choosing the most appropriate treatment. We report this case to remind physicians and surgeons to consider this diagnosis in patients from endemic area presenting with such conditions.

SUBMITTER: Elzein F

PROVIDER: S-EPMC6097276 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature

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Disseminated angioinvasive basidiobolomycosis with a favourable outcome.

Elzein Fatehi F Mursi Mohammed M Albarrag Ahmed M AM Alfiaar Abdullah A Alzahrani Abdulaziz A

Medical mycology case reports 20180807

Basidiobolomycosis, a rare fungal infection, is of worldwide distribution but areas commonly involved include the tropical areas of Africa, USA and South East Asia. 88% of the cases are reported among patients younger than 20 years. Many of the case reports in Saudi Arabia are from Tohama area where our patient lives. The diagnosis tends to be overlooked as the presentation may mimic colonic carcinoma in adults or inflammatory bowel diseases and tuberculosis in both children and adults. Angioinv ...[more]

PMID: 30128269

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Project description:The unc-13 homolog B (UNC13B) gene encodes a presynaptic protein, mammalian uncoordinated 13-2 (Munc13-2), which is highly expressed in the brain-predominantly in the cerebral cortex-and plays an essential role in synaptic vesicle priming and fusion, potentially affecting neuronal excitability. However, the functional significance of the UNC13B mutation in human disease is not known. In this study, we screened for novel genetic variants in a cohort of 446 unrelated cases (families) with partial epilepsy without acquired causes by trio-based whole-exome sequencing. UNC13B variants were identified in 12 individuals affected by partial epilepsy and/or febrile seizures from eight unrelated families. The eight probands all had focal seizures and focal discharges in EEG recordings, including two patients who experienced frequent daily seizures and one who showed abnormalities in the hippocampus by brain MRI; however, all of the patients showed a favourable outcome without intellectual or developmental abnormalities. The identified UNC13B variants included one nonsense variant, two variants at or around a splice site, one compound heterozygous missense variant and four missense variants that cosegregated in the families. The frequency of UNC13B variants identified in the present study was significantly higher than that in a control cohort of Han Chinese and controls of the East Asian and all populations in the Genome Aggregation Database (gnomAD). Computational modelling, including hydrogen bond and docking analyses, suggested that the variants lead to functional impairment. In Drosophila, seizure rate and duration were increased by Unc13b knockdown compared to wild-type flies, but these effects were less pronounced than in sodium voltage-gated channel alpha subunit 1 (Scn1a) knockdown Drosophila. Electrophysiological recordings showed that excitatory neurons in Unc13b-deficient flies exhibited increased excitability. These results indicate that UNC13B is potentially associated with epilepsy. The frequent daily seizures and hippocampal abnormalities but ultimately favourable outcome under anti-epileptic therapy in our patients indicate that partial epilepsy caused by UNC13B variant is a clinically manageable condition.

Project description:BackgroundBSN gene encodes Bassoon, an essential protein to assemble the cytomatrix at the active zone of neurotransmitter release. This study aims to explore the relationship between BSN variants and epilepsy.MethodsWhole-exome sequencing was performed in a cohort of 313 cases (trios) with epilepsies of unknown causes. Additional cases with BSN variants were collected from China Epilepsy Gene V.1.0 Matching Platform. The Clinical Validity Framework of ClinGen was used to evaluate the relationship between BSN variants and epilepsy.ResultsFour pairs of compound heterozygous variants and one cosegregating heterozygous missense variant in BSN were identified in five unrelated families. These variants presented statistically higher frequency in the case cohort than in controls. Additional two de novo heterozygous nonsense variants and one cosegregating heterozygous missense variant were identified in three unrelated cases from the gene matching platform, which were not present in the Genome Aggregation Database. The missense variants tended to be located in C-terminus, including the two monoallelic missense variants. Protein modelling showed that at least one missense variant in each pair of compound heterozygous variants had hydrogen bond alterations. Clinically, two cases were diagnosed as idiopathic generalised epilepsy, two as focal epilepsy and the remaining four as epilepsy with febrile seizures plus. Seven out of eight probands showed infancy or childhood-onset epilepsy. Eight out of 10 affected individuals had a history of febrile convulsions. All the cases were seizure-free. The cases with monoallelic variants achieved seizure-free without treatment or under monotherapy, while cases with biallelic missense variants mostly required combined therapy. The evidence from ClinGen Framework suggested an association between BSN variants and epilepsy.ConclusionThe BSN gene was potentially a novel candidate gene for epilepsy. The phenotypical severity was associated with the genotypes and the molecular subregional effects of the variants.

Dataset Information

Disseminated angioinvasive basidiobolomycosis with a favourable outcome.

Publications

Disseminated angioinvasive basidiobolomycosis with a favourable outcome.

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