scholarly journals Association of early-onset epileptic encephalopathy with involuntary movements – Case series and literature review

2020 ◽  
pp. 100417
Author(s):  
Atsuko Arisaka ◽  
Mitsuko Nakashima ◽  
Satoko Kumada ◽  
Kenji Inoue ◽  
Hiroya Nishida ◽  
...  
Keyword(s):  
Literature Review ◽  
Early Onset ◽  
Case Series ◽  
Epileptic Encephalopathy ◽  
Involuntary Movements

scholarly journals Genetic epilepsy caused by CDKL5 gene mutations as an example of epileptic encephalopathy and developmental encephalopathy: literature review and own observations

2021 ◽  
Vol 16 (1-2) ◽  
pp. 10-41
Author(s):  
K. Yu. Mukhin ◽  
O. A. Pylaeva ◽  
M. Yu. Bobylova ◽  
V. A. Chadaev
Keyword(s):  
Literature Review ◽  
Genetic Disorders ◽  
Clinical Manifestations ◽  
Case Series ◽  
Gene Mutations ◽  
Epileptic Encephalopathy ◽  
Serine Threonine Kinase ◽  
Gene Encoding ◽  
Threonine Kinase

The disease caused by mutations in the CDKL5 gene (encoding cyclin-dependent kinase 5, CDK5) belongs to the group of early (infantile) epileptic encephalopathies caused by alterations in the genome. Currently, the disease is called “developmental encephalopathy and epileptic encephalopathy type 2”. This disorder is a complex combination of symptoms that develop due to deficiency or absence of the CDKL5 gene product, which is serine/threonine kinase. The CDKL5 gene is located on X chromosome; the disease has an X-linked dominant inheritance pattern. This literature review summarizes relevant studies analyzing the disease caused by CDKL5 gene mutations, including its genetic and epidemiological aspects, clinical manifestations, characteristics of epilepsy, principles of diagnosis, and therapeutic approaches. We present a case series of several patients with genetic disorders involving the CDKL5 gene.

scholarly journals Progressive Microcephaly, Spasticity and Development Delay: Novel SLC1A4 Variants in Two Portuguese Families and Literature Review

2020 ◽  
Vol 5 (1) ◽  
pp. 1-9
Author(s):  
Joana Teixeira ◽  
Keyword(s):  
Literature Review ◽  
Early Onset ◽  
Pediatric Patients ◽  
Epileptic Encephalopathy ◽  
Neurodevelopmental Delay ◽  
Development Delay

Our results support the deleterious role of SLC1A4 variants and highlight the need of considering this entity, regardless of ethnicity, in pediatric patients presenting with unexplained neurodevelopmental delay and progressive microcephaly, associated or not with spastic tetraplegia or early onset epileptic encephalopathy.

Case Series With Late-Onset Psychosis Hospitalized in a Geriatric Psychiatry Unit in Turkey: Experience in 9 Years

2003 ◽  
Vol 15 (1) ◽  
pp. 69-72 ◽  
Author(s):  
Yesne Alici-Evcimen ◽  
Turan Ertan ◽  
Engin Eker
Keyword(s):  
Early Onset ◽  
Late Onset ◽  
Case Series ◽  
Geriatric Psychiatry ◽  
Delusional Disorder ◽  
Early Onset Schizophrenia ◽  
Treatment Results ◽  
Thought Insertion ◽  
Psychiatry Department ◽  
Paranoid Psychosis

In this article we report the first series of Turkish inpatients with late-onset psychosis, and describe our 9-year experience at the only inpatient geriatric psychiatry department in Turkey. Among 420 patients hospitalized between 1993 and 2002, 27 were psychotic. In this group, eight patients were diagnosed as having late-onset schizophrenia (LOS) and six very-late-onset schizophrenia-like psychosis (VLOSLP). Five patients had early-onset schizophrenia and eight had delusional disorder. Females were more frequently seen in the group with LOS and the group with VLOSLP. Except for one patient with LOS, all patients with VLOSLP and LOS had paranoid psychosis. Nihilistic delusions, delusions of poverty or guilt, thought withdrawal, thought insertion, and thought broadcasting were not seen in any of the patients. Additionally, none of the LOS or VLOSLP patients showed erotomanic delusions. Grandiose and mystic delusions were not seen in those with VLOSLP. Treatment results and antipsychotic dosages at discharge were similar to those in previous reports from other cultures.

Infrapopliteal Arterial Pseudoaneurysm Development Secondary to Blunt Trauma: Case Series and Literature Review

2020 ◽  
Vol 54 (4) ◽  
pp. 367-374
Author(s):  
Matthew T. Chrencik ◽  
Brian Caraballo ◽  
John Yokemick ◽  
Peter J. Pappas ◽  
Brajesh K. Lal ◽  
...  
Keyword(s):  
Literature Review ◽  
Blunt Trauma ◽  
Case Series ◽  
Duplex Ultrasound ◽  
Endovascular Coiling ◽  
Skeletal Trauma ◽  
Delay In Diagnosis ◽  
Tibial Arteries ◽  
Pulsatile Mass ◽  
Orthopedic Injuries

Objectives: Infrapopliteal arterial pseudoaneurysms (IAP) following blunt trauma with associated orthopedic injuries are uncommon, often present in a delayed fashion, and encompass a diagnostic and therapeutic dilemma. Herein, we present a series of IAPs that were diagnosed following blunt trauma and their management. Methods: Case series consisting of 3 patients and a review of the international literature. Results: Our case series included 3 patients presenting with IAPs following blunt trauma with associated orthopedic injuries. They were all identified in a delayed manner (>3 weeks) after the orthopedic injuries were treated. All patients presented with pain and a pulsatile mass while one concurrently had neurologic deficits. The pseudoaneurysms were diagnosed by duplex ultrasound and confirmed by angiography to be originating from the tibioperoneal trunk, anterior tibial, and posterior tibial arteries respectively. Two patients were treated with surgical excision. Of these, one required an arterial bypass procedure while the other underwent direct ligation only. The third patient was treated by endovascular coiling. A literature review from 1950 to the present found 51 reported cases of IAP resulting from blunt trauma. Ninety percent of trauma-related infrapopliteal injuries occurred in men with a mean delay in diagnosis of 5.6 months (median 1.8 months) after injury. Since 1950, management has shifted from primarily ligation to incorporating minimally invasive endovascular techniques when appropriate. Conclusions: Infrapopliteal artery pseudoaneurysms are rare following blunt skeletal trauma. A delay in diagnosis often occurs and can result in major morbidity and extensive surgical intervention. We recommend a high index of suspicion and a thorough vascular examination in patients with lower extremity skeletal trauma to help identify and treat these injuries early and effectively.

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