Wolf-Hirschhorn syndrome revealed by status epilepticus: A case report
نویسندگان
چکیده
A Wolf-Hirschhorn syndrome is a rare chromosomal anomaly, which results from deletion of the distal portion short arm chromosome 4 (4p-), diagnosis based on clinical picture, easily recognizable in children, confirmed by molecular cytogenetics. We report case baby with wolf-Hirschhorn revealed status epilepticus.
منابع مشابه
The Wolf-Hirschhorn Syndrome in Fetal Autopsy - A Case Report -
Wolf-Hirschhorn syndrome (WHS) is one of multiple congenital anomaly/mental retardation (MCA/MR) syndromes and is caused by partial deletion of the short arm of chromosome 4, particularly in the Wolf-Hirschhorn syndrome critical region-1 (WHSCR1) and Wolf-Hirschhorn syndrome critical region-2 (WHSCR2), which are located in chromosome 4p16.3. Loss of these regions is indeed the cause of WHS, and...
متن کاملWolf-Hirschhorn syndrome.
Chromosomal abnormalities are important cause of mental retardation and congenital anomalies. We report a case of a rare chromosomal disorder, Wolf-Hirschhorn syndrome, caused by deletion of short arm of chromosome 4. It was characterized by well-described facial appearance, seizures, microcephaly and midline closure defects along with growth and mental retardation.
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Wolf-Hirschhorn syndrome (WHS) is a chromosome disorder (4p-syndrome) which is characterized by craniofacial features and epileptic seizures. Here, we report a case of WHS with West syndrome, in whom the seizures were refractory to several antiepileptic drugs but were responsive to the addition of lamotrigine. The patient had epileptic spasms at age seven months. The interictal electroencephalo...
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Wolf-Hirschhorn syndrome is a rare hereditary disease that results from a 4p chromosome deletion. Patients with this syndrome are characterized by craniofacial dysgenesis, seizures, growth delay, intellectual disability, and congenital heart disease. Although several cases have been reported, very little information is available on anesthetic management for patients with Wolf-Hirschhorn syndrom...
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Background: Wolf-Hirschhorn Syndrome (WHS) is a congenital malformation syndrome characterized by growth deficiency and varying developmental delays based on genomic deletions and characteristic facies. The majority of WHS cases are caused by a deletion of 4p16.3 regions on chromosome 4, which includes the Wolf-Hirschhorn Syndrome Candidate genes (WHSC1 and WHSC2). WHSC1 protein is required to ...
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ژورنال
عنوان ژورنال: GSC Advanced Research and Reviews
سال: 2023
ISSN: ['2582-4597']
DOI: https://doi.org/10.30574/gscarr.2023.14.1.0301