Bipolar disorder with Marfan syndrome: a case illustration based on possible involvement of TGF-β1 in the common etiopathogenesis

Balcıoğlu, Yasin Hasan; Kırlıoğlu, Simge Seren; Özgen, Güliz

doi:10.1080/24750573.2017.1371660

Cited by 2 publications

(2 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This conveyed a new diagnosis of Kallmann Syndrome, and the patient was noted to have a consistent phenotype based on MRI brain imaging (OMIM#244200). Though catatonia had not been described in Kallman syndrome, there are previous case reports associating the diagnosis to mood disorders and psychosis (Kirlioglu et al, 2017; Kishi et al, 2009; Verhoeven et al, 2013).…”

Section: Casesmentioning

confidence: 98%

See 1 more Smart Citation

Genetic syndromes are prevalent in patients with comorbid neurodevelopmental disorders and catatonia

Shillington,

Zappia,

White

et al. 2023

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Catatonia occurs at high rates in idiopathic and syndromic neurodevelopmental disorders. At our institution's multidisciplinary catatonia clinic, clinical genetic testing (including microarray, fragile X PCR and methylation, autism/ID expanded panels, and exome sequencing) was commonly completed as part of clinical workup on patients with co‐occurring neurodevelopmental disorders and catatonia (performed in 36/48 cases or 75%). This testing identified a pathogenic or likely pathogenic finding in 15/36 patients (42%). Testing identified a VUS (variant of uncertain significance) in 9/36 patients (25%). On review of the VUS findings, 4/9 were felt to be suspicious and potentially diagnostic. Testing was negative for 12/36 patients (33%). Many of the variants identified in this cohort were found in genes involved in gamma aminobutyric acid (GABA) and glutamatergic synaptic signaling; imbalances of these neurotransmitters are hypothesized to be drivers of catatonia. More work is needed to further characterize the molecular underpinnings of catatonia in the setting of neurodevelopmental disorders, including expanding genetic testing to larger cohorts in the future.

show abstract

Section: Casesmentioning

confidence: 98%

“…Though catatonia had not been described in Kallman syndrome, there are previous case reports associating the diagnosis to mood disorders and psychosis (Kirlioglu et al, 2017;Kishi et al, 2009;Verhoeven et al, 2013).…”

Section: Case 36mentioning

confidence: 98%

Genetic syndromes are prevalent in patients with comorbid neurodevelopmental disorders and catatonia

Shillington,

Zappia,

White

et al. 2023

American J of Med Genetics Pt A

View full text Add to dashboard Cite

show abstract

Do Patients Diagnosed with Schizophrenia and their Biological Parents have Concurrent Signs Suggestive of Marfan’s Syndrome? A Cross Sectional Study

Halder¹,

Saneja²,

Harshe³

et al. 2022

Annals of Indian Psychiatry

View full text Add to dashboard Cite

Background: The prevalence of Marfan’s syndrome (MFS) is 2–3/10,000 people, whereas the prevalence of schizophrenia is 100/10,000 people. Although existing literature does not have robust scientific evidence to support such an association, the possibility of such should be explored because patients suffering from MFS do have higher degree of psychiatric comorbidities than the general population. Materials and Methods: The cross-sectional study randomly recruited 50 patients with schizophrenia and both their biological parents. All patients and controls were examined clinically for mental status examination, ophthalmological evaluation with refraction and slit-lamp examination, anthropometric evaluation for skeletal deformities, and two-dimensional echocardiographic assessment. Results: All the patients had a normal upper segment/lower segment ratio, arm span/height span, slit-lamp examination results, refraction, and aortic root Z score. There was no significant difference in anthropometric measurements and Z scores between genders and between patients and control groups. Conclusion: The study found no co-occurrence of marfanoid features in schizophrenic patients and their biological parents.

show abstract

Bipolar disorder with Marfan syndrome: a case illustration based on possible involvement of TGF-β1 in the common etiopathogenesis

Cited by 2 publications

References 15 publications

Genetic syndromes are prevalent in patients with comorbid neurodevelopmental disorders and catatonia

Genetic syndromes are prevalent in patients with comorbid neurodevelopmental disorders and catatonia

Do Patients Diagnosed with Schizophrenia and their Biological Parents have Concurrent Signs Suggestive of Marfan’s Syndrome? A Cross Sectional Study

Contact Info

Product

Resources

About