scholarly journals Coexistence of DiGeorge syndrome with Fahr syndrome, mosaic Turner syndrome and psychiatric symptoms: A case report.

2021 ◽  
Vol 55 (2) ◽  
pp. 397-404
Author(s):  
Ewa Zalewska ◽  
Maria Gnacińska-Szymańska ◽  
Łukasz Obołończyk ◽  
Krzysztof Sworczak
Keyword(s):  
Case Report ◽  
Turner Syndrome ◽  
Digeorge Syndrome ◽  
Psychiatric Symptoms ◽  
Fahr Syndrome

Combination of turner syndrome and congenital adrenal hyperplasia: a rare case report

2017 ◽  
Author(s):  
Ivana Sagova ◽  
Dušan Pavai ◽  
Matej Stančik ◽  
Helena Urbankova ◽  
Juliana Gregova ◽  
...  
Keyword(s):  
Case Report ◽  
Congenital Adrenal Hyperplasia ◽  
Turner Syndrome ◽  
Rare Case ◽  
Adrenal Hyperplasia ◽  
Rare Case Report

Voltage-gated potassium channel limbic encephalitis presenting as functional cognitive impairment

2020 ◽  
Vol 13 (12) ◽  
pp. e233179
Author(s):  
Eric Garrels ◽  
Fawziya Huq ◽  
Gavin McKay
Keyword(s):  
Cognitive Impairment ◽  
Case Report ◽  
Potassium Channel ◽  
Limbic Encephalitis ◽  
Psychiatric Symptoms ◽  
Differential Diagnoses ◽  
Visual Hallucinations ◽  
Voltage Gated ◽  
History Of ◽  
Impaired Cognition

Limbic encephalitis is often reported to present as seizures and impaired cognition with little focus on psychiatric presentations. In this case report, we present a 49-year-old man who initially presented to the Psychiatric Liaison Service with a several month history of confusion with the additional emergence of visual hallucinations and delusions. Due to the inconsistent nature of the symptoms in the context of a major financial stressor, a provisional functional cognitive impairment diagnosis was made. Investigations later revealed a positive titre of voltage-gated potassium channel (VGKC) antibodies, subtype leucine-rich glioma inactivated 1 accounting for his symptoms which dramatically resolved with steroids and immunoglobulins. This case highlighted the need for maintaining broad differential diagnoses in a patient presenting with unusual psychiatric symptoms.

scholarly journals Craniopharyngioma presenting with psychiatric symptoms: a case report

2021 ◽  
Vol 25 (3) ◽  
pp. 18-20
Author(s):  
Alexis R Bowers ◽  
Lewis Hughes
Keyword(s):  
Case Report ◽  
Psychiatric Symptoms

scholarly journals The value of a simple method to decrease diagnostic errors in Turner syndrome: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Seyedetahere Mousavi ◽  
Batool Amiri ◽  
Saidee Beigi ◽  
Mohammadreza Farzaneh
Keyword(s):  
Case Report ◽  
Standard Deviation ◽  
Physical Examination ◽  
Turner Syndrome ◽  
X Chromosome ◽  
Genetic Disorder ◽  
Diagnostic Errors ◽  
Height Velocity ◽  
Target Height ◽  
Simple Method

Abstract Introduction Turner syndrome is a genetic disorder in females and is the result of complete or partial loss of an X chromosome during fertilization. The missing X chromosome is originally either from the mother's ovum or the father's sperm cell. Approximately 45% of patients have the 45,X karyotype and the rest have other variants of Turner syndrome, which are either mosaicism patterns or structural abnormalities of the X chromosome. Here, we report a case of Turner syndrome that is the fifth case of Turner syndrome with balanced Robertsonian translocation of (13;14)(q10;q10), and the sixth case with 44,X chromosomes, reported in the literature thus far. Case presentation A 10.3-year-old Persian girl was brought to our clinic by her parents, with the complaint of failure to thrive and short height. She had been examined and investigated by endocrinologists since the age of 4 years, but no definite diagnosis was made. At the time of presentation, she had been through three provocative growth hormone tests and had been on no medications for about a year. Her physical examination revealed mild retrognathia and micrognathia. Initially, she was started on somatropin treatment which, after 12 months, did not appropriately improve her height velocity. Therefore, a more thorough physical examination was performed, in which high arched palate and low posterior hairline were observed. There was also a difference between target height and patient height standard deviation scores. Karyotype study was requested, and Turner syndrome was confirmed. Conclusion The diagnosis of this case was not straightforward, both because the somatic presentations were not obvious, and because the physicians had not looked for them when performing the physical examinations. This case report introduces a rare 44,X chromosome karyotype of Turner syndrome and highlights the value in using the difference between target height and patient height standard deviation scores as a simple and inexpensive tool for diagnosis of this syndrome.

scholarly journals Mood symptoms Associated with CADASIL Syndrome: A Case Report

CNS Spectrums ◽  
2021 ◽  
Vol 26 (2) ◽  
pp. 144-144
Author(s):  
Asad Shaikh ◽  
Joel Idowu
Keyword(s):  
Case Report ◽  
Clinical Symptoms ◽  
Psychiatric Symptoms ◽  
Small Vessel Disease ◽  
Altered Mental Status ◽  
Hereditary Disease ◽  
African American Female ◽  
Psychiatric Disturbance ◽  
Rare Type ◽  
Parietal Lobes

AbstractObjectiveTo discuss the psychiatric symptoms that are associated with CADASIL syndrome Abstract Cerebral:Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a rare type of hereditary disease involving the small cerebral vessels. The clinical symptoms are various and include recurrent ischemic strokes, migraine with aura, seizures with epilepsy, psychiatric problems such as mood disturbances, and progressive cognitive decline leading to dementia. This disease needs awareness amongst the psychiatrists even though it is discussed much more in neurology literature. Psychiatric symptoms are seen in 20–41% of patients with CADASIL syndrome (1, 2). Psychiatric symptoms are actually the initial presentation in 15% of the cases. (3) The psychiatric disturbance most reported are mood disturbances (9–41%) especially depression. Here a 42-year-old African American female was brought to the hospital emergency room after she was found wandering in the streets. Psychiatry was consulted for altered mental status. Upon evaluation by the psychiatric consult service she was only oriented to person, depressed, anxious and complaining of headaches. Initial CT scan showed marked small vessel disease and old lacunar infarcts in the basal ganglia and right corona radiata. Magnetic Resonance Imaging (MRI) of the brain showed acute infarcts in the right posterior frontal and right parietal lobes along with old infarcts. Her symptoms and findings on imaging were consistent with CADASIL syndrome. Once the diagnosis was confirmed and prior records were obtained patient was resumed on an antidepressant and anxiolytic.ConclusionThe purpose of this case report was to discuss psychiatric symptoms associated with CADASIL syndrome. Although there has been research showing a relationship between vascular disease and depression, a review of the literature suggests that there needs to be more research done to explore other psychiatric disturbances that may be seen with this syndrome. Psychiatric symptoms that are untreated can have the potential to further impact the quality of life therefore psychiatrists need to be aware of this syndrome in order to treat these patients promptly.References1 https://bmcmedicine.biomedcentral.com/articles/10.1186/s12916-017-0778-8 2 http://dx.doi.org/10.32474/OJNBD.2018.01.000101 3 https://pdfs.semanticscholar.org/47f6/5952ee3c5dcf2a61345f704914b17fa8dc0d.pdf

Systemic sclerosis in a patient with turner syndrome: A case report and a review of associated autoimmune diseases

2021 ◽  
Author(s):  
Ripalta Colia ◽  
Natalia Mansueto ◽  
Addolorata Corrado ◽  
Cinzia Rotondo ◽  
Francesco Paolo Cantatore
Keyword(s):  
Case Report ◽  
Systemic Sclerosis ◽  
Autoimmune Diseases ◽  
Turner Syndrome

scholarly journals Vgkc Encephalitis With Low-Titer Antibodies: Case Report

2020 ◽  
pp. 1-3
Author(s):  
Sena Aksoy ◽  
◽  
Mina Uzülmez ◽  
Aysun Soysal ◽  
◽  
...  
Keyword(s):  
Case Report ◽  
Potassium Channel ◽  
Memory Impairment ◽  
Psychiatric Symptoms ◽  
Autoimmune Encephalitis ◽  
Voltage Gated ◽  
With Memory

Voltage-gated potassium channel (VGKC) encephalitis is a type of autoimmune encephalitis, that presents with memory impairment, headache, psychiatric symptoms and seizures. Although contactin-associated protein 2 (CASPR2) and leucine-rich glioma inactivated 1 (LGI1) are clearly identifed as components of the VGKC complex, additional subtypes are known to exist. In this report, we present a case of 64-year-old patient with VGKC antibodies, negative for CASPR2 and LGI1

Sign in / Sign up

Export Citation Format

Share Document