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Case report
Ying Zhang
The Affiliated Hospital of Qingdao University
Corresponding Author
ORCiD: https://orcid.org/0000-0002-6360-6566
License:
This work is licensed under a CC BY 4.0 License. Read Full License
Background
Hemiconvulsion–hemiplegia–epilepsy (HHE) syndrome is a rare syndrome characterized by childhood onset partial motor convulsions, hemiplegia, and epilepsy in sequence. Exact pathogenesis is not clear.
Case presentation:
We present a girl with global developmental delay with history and brain MRI consistent with the diagnosis of HHE syndrome. The cytogenetic microarray (CMA) showed 9.1 Mb deletion in 5q33.3q34 region. Along with HHE syndrome, the patient also had global developmental delay. Clinical phenotype of this microdeletion region has not been described in association with HHE syndrome in the literature. We compared the patient’s phenotype with other patients in 5 previously published papers of a common region of deletion spanning 157501989–164166203. GABRA1, GABRB2, GABRG2, CYFIP2, THG1 are the important genes in the present deleted region, which may be responsible for the fever sensitivity and global developmental delay.
Conclusions
This is the first case of HHE syndrome in which CMA showed a microdeletion of 5q33.3q34 region. This case report links HHE syndrome and global developmental delay to microdeletions of 5q33.3q34, which has never been reported in literature. Cause of HHE syndrome remains unexplained in present case and HHE may be a causal or chance co-occurrence.
Keywords
hemiconvulsion–hemiplegia–epilepsy, cytogenetic microarray, 5q33.3q34 microdeletion, children, developmental delay
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This is a preprint. It has not completed peer review.
Case report
Ying Zhang
The Affiliated Hospital of Qingdao University
Corresponding Author
ORCiD: https://orcid.org/0000-0002-6360-6566
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
History
CURRENT STATUS: Posted
Version 1
Posted 18 Feb, 2021
No community comments so far
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Subject Areas
Pediatrics
License:
This work is licensed under a CC BY 4.0 License. Read Full License
Background
Hemiconvulsion–hemiplegia–epilepsy (HHE) syndrome is a rare syndrome characterized by childhood onset partial motor convulsions, hemiplegia, and epilepsy in sequence. Exact pathogenesis is not clear.
Case presentation:
We present a girl with global developmental delay with history and brain MRI consistent with the diagnosis of HHE syndrome. The cytogenetic microarray (CMA) showed 9.1 Mb deletion in 5q33.3q34 region. Along with HHE syndrome, the patient also had global developmental delay. Clinical phenotype of this microdeletion region has not been described in association with HHE syndrome in the literature. We compared the patient’s phenotype with other patients in 5 previously published papers of a common region of deletion spanning 157501989–164166203. GABRA1, GABRB2, GABRG2, CYFIP2, THG1 are the important genes in the present deleted region, which may be responsible for the fever sensitivity and global developmental delay.
Conclusions
This is the first case of HHE syndrome in which CMA showed a microdeletion of 5q33.3q34 region. This case report links HHE syndrome and global developmental delay to microdeletions of 5q33.3q34, which has never been reported in literature. Cause of HHE syndrome remains unexplained in present case and HHE may be a causal or chance co-occurrence.
Figure 1
Figure 2
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