CDKL5 Deficiency Disorder (CDD)—Rare Presentation in Male
CDKL5 deficiency disorder (CDD) is a developmental encephalopathy caused by pathogenic variants in the X-linked cyclin-dependent kinase 5 (CDKL5) gene. This rare disorder occurs more frequently in females than in males. The incidence is estimated to be approximately 1: 40,000–60,000 live births. So...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2022-11-01
|
| Series: | Children |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2227-9067/9/12/1806 |
| _version_ | 1827641352993636352 |
|---|---|
| author | Małgorzata Rodak Mariola Jonderko Patrycja Rozwadowska Magdalena Machnikowska-Sokołowska Justyna Paprocka |
| author_facet | Małgorzata Rodak Mariola Jonderko Patrycja Rozwadowska Magdalena Machnikowska-Sokołowska Justyna Paprocka |
| author_sort | Małgorzata Rodak |
| collection | DOAJ |
| description | CDKL5 deficiency disorder (CDD) is a developmental encephalopathy caused by pathogenic variants in the X-linked cyclin-dependent kinase 5 (CDKL5) gene. This rare disorder occurs more frequently in females than in males. The incidence is estimated to be approximately 1: 40,000–60,000 live births. So far, 50 cases have been described in boys. The clinical course in males tends to be more severe and is often associated with death in the first or second decade of life. The authors present an unreported 2.5-year-old male patient with drug-resistant epilepsy who was diagnosed with a de novo mutation in the <i>CDKL5</i> gene. First seizures developed in the fifth week of life and have progressed steadily since then. The child’s psychomotor development was strongly delayed, and generalized hypotonia was noticed since birth. Brain MRI showed areas of incomplete myelination, posterior narrowing of the corpus callosum, a pineal cyst of up to 3 mm, and open islet lids. Intensive antiseizure medications (ASMs), a ketogenic diet, and steroid therapy were not successful. Short-term improvement was achieved with the implantation of a vagal nerve stimulator (VNS). Due to the progressive course of the disease, the boy requires frequent modification of ASMs. |
| first_indexed | 2024-03-09T17:11:49Z |
| format | Article |
| id | doaj.art-d6880101ebcb438fb34d5c9306706e59 |
| institution | Directory Open Access Journal |
| issn | 2227-9067 |
| language | English |
| last_indexed | 2024-03-09T17:11:49Z |
| publishDate | 2022-11-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Children |
| spelling | doaj.art-d6880101ebcb438fb34d5c9306706e592023-11-24T14:00:06ZengMDPI AGChildren2227-90672022-11-01912180610.3390/children9121806CDKL5 Deficiency Disorder (CDD)—Rare Presentation in MaleMałgorzata Rodak0Mariola Jonderko1Patrycja Rozwadowska2Magdalena Machnikowska-Sokołowska3Justyna Paprocka4Students’ Scientific Society, Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-752 Katowice, PolandStudents’ Scientific Society, Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-752 Katowice, PolandStudents’ Scientific Society, Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-752 Katowice, PolandDepartment of Diagnostic Imaging, Radiology and Nuclear Medicine, Faculty of Medical Science in Katowice, Medical University of Silesia, 40-752 Katowice, PolandDepartment of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-752 Katowice, PolandCDKL5 deficiency disorder (CDD) is a developmental encephalopathy caused by pathogenic variants in the X-linked cyclin-dependent kinase 5 (CDKL5) gene. This rare disorder occurs more frequently in females than in males. The incidence is estimated to be approximately 1: 40,000–60,000 live births. So far, 50 cases have been described in boys. The clinical course in males tends to be more severe and is often associated with death in the first or second decade of life. The authors present an unreported 2.5-year-old male patient with drug-resistant epilepsy who was diagnosed with a de novo mutation in the <i>CDKL5</i> gene. First seizures developed in the fifth week of life and have progressed steadily since then. The child’s psychomotor development was strongly delayed, and generalized hypotonia was noticed since birth. Brain MRI showed areas of incomplete myelination, posterior narrowing of the corpus callosum, a pineal cyst of up to 3 mm, and open islet lids. Intensive antiseizure medications (ASMs), a ketogenic diet, and steroid therapy were not successful. Short-term improvement was achieved with the implantation of a vagal nerve stimulator (VNS). Due to the progressive course of the disease, the boy requires frequent modification of ASMs.https://www.mdpi.com/2227-9067/9/12/1806CDKL5 deficiency disorderepileptic encephalopathyrefractory epilepsychildren |
| spellingShingle | Małgorzata Rodak Mariola Jonderko Patrycja Rozwadowska Magdalena Machnikowska-Sokołowska Justyna Paprocka CDKL5 Deficiency Disorder (CDD)—Rare Presentation in Male Children CDKL5 deficiency disorder epileptic encephalopathy refractory epilepsy children |
| title | CDKL5 Deficiency Disorder (CDD)—Rare Presentation in Male |
| title_full | CDKL5 Deficiency Disorder (CDD)—Rare Presentation in Male |
| title_fullStr | CDKL5 Deficiency Disorder (CDD)—Rare Presentation in Male |
| title_full_unstemmed | CDKL5 Deficiency Disorder (CDD)—Rare Presentation in Male |
| title_short | CDKL5 Deficiency Disorder (CDD)—Rare Presentation in Male |
| title_sort | cdkl5 deficiency disorder cdd rare presentation in male |
| topic | CDKL5 deficiency disorder epileptic encephalopathy refractory epilepsy children |
| url | https://www.mdpi.com/2227-9067/9/12/1806 |
| work_keys_str_mv | AT małgorzatarodak cdkl5deficiencydisordercddrarepresentationinmale AT mariolajonderko cdkl5deficiencydisordercddrarepresentationinmale AT patrycjarozwadowska cdkl5deficiencydisordercddrarepresentationinmale AT magdalenamachnikowskasokołowska cdkl5deficiencydisordercddrarepresentationinmale AT justynapaprocka cdkl5deficiencydisordercddrarepresentationinmale |