Intractable epilepsy with Rahman Syndrome
Nefise Arıbaş Öz, Esra Gürkaş, Zeynep Selen Karalök, Ahmet Cevadet Ceylan
Genetic mutations in genes encoding proteins involved in epigenetic machinery have been reported in individuals with epilepsy, intellectual disability, congenital heart disease, and other disorders. Histone Gene Cluster 1 Member E, HIST1H1E, encodes Histone H1.4, acts as a linker histone protein, and is responsible for higher order chromatin structure. HIST1H1E syndrome also known as Rahman syndrome (RS), OMIM #617537. Here, we report a girl patient with RS. 14 year old girl was followed up with intractable epilepsy. She also had dysmorphic facial appearance, skeletal anomalies and thoracic deformity. The patient was the sixth child of non-consanguineus healthy parents. She was born at term with a birth weight at 3.3 kg. She walked at 3 years and had a speech delay. She developed psychomotor retardation, intellectual deficiency and behavioral disorders. At the age of 2,5 years, she presented with seizure and developed epilepsy treated with levetiracetam, oxcarbazepine, clobazam. Morphological examination showed had full cheeks, bitemporal narrowing, high hairline, deep set eyes, downslanting palpebral fissures, hyperteloris, dental anomalies and caries, clinodactyly and scoliosis. Brain magnetic resonance imaging (MRI) revealed corpus callosum agenesis and encephalocele. To assess the cause of the intellectual deficiency, intractable epilepsy and many dysmorphic findings she had genetic testing. WES (whole exome sequence) revealed heterozygous changes of c.190-191insT in the HIST1H1E (NM_005321.2) gene. RS is a rare genetic disease. Genetic testing may be necessary in the intractable epilepsy, intellectual disability, and dysmorphic findings. In this case, we tried to describe the clinical findings of this rare disease.
Keywords: Rahman syndrome, epilepsy, intellectual disability, genetic
Nefise Arıbaş Öz
Ankara City Hospital
Esra Gürkaş
Ankara City Hospital
Turkey
Zeynep Selen Karalök
Memorial Bahçelievler Hospital
Ahmet Cevadet Ceylan
Ankara Şehir Hastanesi
Genetic mutations in genes encoding proteins involved in epigenetic machinery have been reported in individuals with epilepsy, intellectual disability, congenital heart disease, and other disorders. Histone Gene Cluster 1 Member E, HIST1H1E, encodes Histone H1.4, acts as a linker histone protein, and is responsible for higher order chromatin structure. HIST1H1E syndrome also known as Rahman syndrome (RS), OMIM #617537. Here, we report a girl patient with RS. 14 year old girl was followed up with intractable epilepsy. She also had dysmorphic facial appearance, skeletal anomalies and thoracic deformity. The patient was the sixth child of non-consanguineus healthy parents. She was born at term with a birth weight at 3.3 kg. She walked at 3 years and had a speech delay. She developed psychomotor retardation, intellectual deficiency and behavioral disorders. At the age of 2,5 years, she presented with seizure and developed epilepsy treated with levetiracetam, oxcarbazepine, clobazam. Morphological examination showed had full cheeks, bitemporal narrowing, high hairline, deep set eyes, downslanting palpebral fissures, hyperteloris, dental anomalies and caries, clinodactyly and scoliosis. Brain magnetic resonance imaging (MRI) revealed corpus callosum agenesis and encephalocele. To assess the cause of the intellectual deficiency, intractable epilepsy and many dysmorphic findings she had genetic testing. WES (whole exome sequence) revealed heterozygous changes of c.190-191insT in the HIST1H1E (NM_005321.2) gene. RS is a rare genetic disease. Genetic testing may be necessary in the intractable epilepsy, intellectual disability, and dysmorphic findings. In this case, we tried to describe the clinical findings of this rare disease.
Keywords: Rahman syndrome, epilepsy, intellectual disability, genetic
Nefise Arıbaş Öz
Ankara City Hospital
Esra Gürkaş
Ankara City Hospital
Turkey
Zeynep Selen Karalök
Memorial Bahçelievler Hospital
Ahmet Cevadet Ceylan
Ankara Şehir Hastanesi
Nefise Arıbaş Öz
Ankara City Hospital
Ankara City Hospital