BackgroundBirt-Hogg-Dube syndrome (BHDS), also known as Hornstein-Knickenberg syndrome is a rare, autosomal dominant genetic disorder characterized by a triad of clinical manifestations: skin ...fibrofolliculomas, renal tumors, and multiple pulmonary cysts. The exact incidence of BHDS syndrome is unknown. This hereditary syndrome is caused by mutations in the folliculin (FLCN) gene, located on chromosome 17p11.2, which encodes the folliculin protein. ObjectiveThis case report aims to highlight the importance of increased vigilance and long-term follow-up in BHDS patients, even decades after surgical intervention, to detect and manage potential pulmonary complications effectively. Case presentation: We present a unique case of spontaneous pneumothorax recurrence in a 63-year-old patient with a history of Birt-Hogg-Dube syndrome. The patient had undergone surgical treatment for pneumothorax 30 years ago and remained asymptomatic until presenting to our clinic with acute dyspnea and a dry cough. A recurrent pneumothorax was diagnosed and treated with a chest tube. Further chest imaging revealed extensive ground-glass opacities and cysts in both lungs. The patient was diagnosed with active pneumonia. A conservative approach was adopted due to the pneumonia diagnosis, and the patient showed a successful recovery without pneumothorax recurrence. ConclusionThis case highlights the importance of long-term follow-up in patients with Birt-Hogg-Dube syndrome and previous pneumothorax episodes.
Neuropsychiatric symptoms (NPSs) are common in dementia. Their evaluation is based on Neuropsychiatric Inventory (NPI). Neuroimaging studies have tried to elucidate the underlying neural circuits ...either in isolated NPSs or in specific forms of dementia.
The objective of this study is to evaluate the correlation of NPS in the NPI with Brodmann areas (BAs) perfusion, for revealing BAs involved in the pathogenesis of NPSs in dementia of various etiologies.
We studied 201 patients (82 with Alzheimer's disease, 75 with Frontotemporal dementia, 27 with Corticobasal Syndrome, 17 with Parkinson Disease/Lewy Body Dementia). Exploratory factor analysis was carried out to evaluate underlying groups of BAs, and Principal Component analysis was chosen as extraction method using Varimax rotation. Partial correlation coefficients were computed to explore the association of factors obtained from analysis and NPI items controlling for age, educational yeas, and ACE-R.
We found 6 BAs Factors(F); F1 (BAs 8,9,10,11,24,32,44,45,46,47, bilaterally), F2 (BAs 4,5,6,7,23,31, bilaterally), F3 (BAs 19,21,22,37,39,40, bilaterally), F4 (BAs 20,28,36,38, bilaterally), F5 (BAs 25, bilaterally) and F6 (BAs 17,18, bilaterally). Significant and negative correlation was found between NPI1 (delusions) and F3,F6, NPI2 (hallucinations) and F6, NPI7 (apathy) and F1,F4,F5, NPI3 (agitation) - NPI10 (aberrant motor behavior) - NPI12 (eating disorders) and F1. We did not find any significant correlation for NPI4,5,6,8,9,11 (depression, anxiety, euphoria, disinhibition, irritability, sleep disorders, respectively).
Several NPSs share the same BAs among different types of dementia, while the manifestation of the rest may be attributed to different neural networks. These findings may have an impact on patients' treatment.
