UNASSIGNED: Tuberous sclerosis complex is a genetic neurocutaneous autosomal dominant syndrome, characterized by the development of multiple benign tumors (hamartomas) affecting various systems. Heart-benign tumors that result from the complex are called cardiac rhabdomyomas. Unlike hamartomas that occur in other organs, cardiac rhabdomyomas are most prevalent in infants and very young children with tuberous sclerosis complex. We present a case of a young adult with tuberous sclerosis who had an unusually late diagnosis of cardiac rhabdomyomas.
UNASSIGNED: A 22-year-old male patient of Afro-descendant, diagnosed with tuberous sclerosis complex in childhood, presented with refractory epilepsy and was treated only with lacosamide. The patient came to medical consultation due to a recent history of episodic, persistent chest pain in the sternal region, associated with physical effort. Echocardiography revealed a non-dilated left ventricle, with several rounded masses of high echogenicity without pedicles at the apical level, the largest measuring 14 × 11 mm, consistent with cardiac rhabdomyomas.
UNASSIGNED: Cardiac rhabdomyomas rarely develop in adulthood for individuals with tuberous sclerosis. These late-onset cases can exhibit various symptoms, from simple to complex presentations. Regular clinical checkups are essential for adults with tuberous sclerosis complex.

BACKGROUND: Swyer-James-MacLeod syndrome (SJMS) is a rare lung condition characterized by a unilateral lung hyperlucency and reduction in the pulmonary vasculature, with or without the presence of bronchiectasis. In the 1950s, Swyer, James, and Macleod simultaneously characterized the syndrome for the first time. It is typically diagnosed in childhood. Adult-onset cases are extremely rare, with little literature available on its clinical presentation and diagnostic challenges. Swyer-James-MacLeod syndrome can mimic other lung disorders, resulting in misdiagnosis and improper treatment.
METHODS: A 49- year-old woman from Debre Berhan, Ethiopia, presented to the emergency department of Hakim Gizaw Teaching Hospital with symptoms and radiographic findings mimicking acute pulmonary embolism. On the basis of the clinical presentation and radiographic findings, the patient was first treated as a probable case of pulmonary embolism. Anticoagulant therapy and oxygen support were initiated. Nevertheless, additional testing using a chest computed tomography angiography revealed left lung hyperlucency, decreased vascularity, bronchiectasis, and a negative result for pulmonary embolism. As a result, Swyer-James-MacLeod syndrome was diagnosed.
CONCLUSIONS: The symptoms of Swyer-James-MacLeod syndrome can be mistaken for pulmonary embolism, which could lead to ineffective treatment and needless expenses. In individuals presenting with symptoms suggestive of pulmonary embolism, this case emphasizes the significance of considering Swyer-James-MacLeod syndrome as a differential diagnosis, especially in the absence of established risk factors for pulmonary embolism.

Cutaneous pili migrans is a rare and interesting dermatological condition characterized by embedding a hair or its fragment in the epidermis or superficial dermis, sometimes leading to pain and a serpiginous rash. We present a 28-year-old male who came to the clinic concerned about the sudden onset of pain in his foot over 10 hours. Upon meticulous physical examination, we found a white hair embedded in the skin of the fifth toe of his left foot, which the patient immediately recognized as hair from his dog. Upon removal of the hair, the pain immediately resolved. We believe our case represents the first reported case in Panama, the second in Latin America, and the second associated with dog hair. We anticipate that more cases related to animal hairs will be reported in the coming years due to the increasing popularity of pets in this century.

UNASSIGNED: Alexander disease is caused by mutations in GFAP, the glial fibrillary acidic protein gene. External laryngeal tremor has not been reported in adult-onset Alexander disease (AOAxD). The aims of this work were to report one such case and to review the literature on palatopharyngeal tremor and AOAxD.
UNASSIGNED: A 43-year-old man experienced involuntary movements at the front of his neck. Continuous, rhythmic vertical movements of the laryngeal skeleton, soft palate and tongue, and lower limb dysmetria were observed. The pathogenic GFAP variant c.994G>A; p.(Glu332Lys) was found. MRI demonstrated spinal cord and medulla oblongata atrophy and hyperintensities at the cerebellum and cerebral white matter.
UNASSIGNED: External laryngeal, palatopharyngeal tremor and cerebellar ataxia constituted a mild phenotype, as expected from this variant, herein reported in isolation for the third time. Imaging was consistent with AOAxD, including the so-called tadpole sign. Additional studies are necessary to define this infrequent disease.

Minimal change disease (MCD), typically linked with pediatric nephrotic syndrome, presents challenges in early identification and diagnosis in adult populations. This case report emphasizes the importance of tailored diagnostic and treatment approaches for adults with MCD. Our patient presented with fatigue, shortness of breath, and confusion, along with other symptoms leading to a renal biopsy which confirmed MCD. This highlights the diagnostic significance of kidney biopsy in adults. While steroids remain the standard treatment, challenges such as resistance and side effects lead to the consideration of alternatives like tacrolimus. There are nuanced differences between adult and pediatric MCD presentations, for which our study calls for increased awareness among physicians. Steroids are considered a first-line treatment for MCD, but prolonged use of steroids has significantly increased risk and alternative therapies should be considered. This study presents an example of MCD in adult populations, urging ongoing research for enhanced understanding and tailored management strategies. It emphasizes the pivotal role of physician awareness, alternative treatments, and continued investigation to improve outcomes for adults with MCD.

Myositis is a clinical condition with a wide spectrum of clinical presentation. We present the case of 33 years old woman with acute history of pain and swelling of both legs. Investigations confirmed acute bilateral myositis of both calf muscles. She responded well to conservative management with full recovery. Benign acute myositis is more common in children and usually follows viral infection. Although our case may represent an adult form of benign acute childhood myositis, she had no history of preceding infections. Benign acute myositis is increasingly reported in adults. It appears to be self-limited with spontaneous full recovery. The diagnosis is largely based on clinical features. Therefore, clinicians should be aware of this type of myositis to avoid unnecessary invasive investigations.

BACKGROUND: The objective of this study was to investigate the clinical characteristics and genetic spectrum of adult-onset cone/cone-rod dystrophy (AOCD/AOCRD) in Korean individuals.
METHODS: This is a single-center, retrospective cross-sectional study. We analyzed 22 individuals with genetically confirmed cone dystrophy, with symptoms beginning after 30 years of age. All patients underwent comprehensive ophthalmic and electrophysiological examinations. Exome sequencing of 296 genes associated with inherited retinal disease was performed. The clinical features of patients with AOCD/AOCRD and the causative genes and variants detected by exome sequencing were analyzed.
RESULTS: The median age at the first visit was 52 years (range, 31-76 years), and the most common initial symptom was reduced visual acuity. In most cases, fundus photography showed a bull\'s eye pattern with foveal sparing, consistent with perifoveal photoreceptor loss on optical coherence tomography. We identified disease-causing variants in six genes: RP1, CRX, CDHR1, PROM1, CRB1, and GUCY2D. Pathogenic variants in RP1, CRX, and CDHR1 were identified in 77% of the AOCD/AOCRD cases, including p.Cys1399LeufsTer5, p.Arg1933Ter, and p.Ile2061SerfsTer12 in RP1; p.Ter300GlnextTer118 in CRX; and p.Glu201Lys in CDHR1. No characteristic imaging differences were observed for any of the causative genes. Most of the RP1-related AOCD/AOCRD cases showed a decreased amplitude only in the photopic electroretinogram (ERG), whereas CRX-related AOCD/AOCRD cases showed a slightly decreased amplitude in both the scotopic and photopic ERGs.
CONCLUSIONS: In case of visual impairment with bull\'s eye pattern of RPE atrophy recognized after the middle age, a comprehensive ophthalmic examination and genetic test should be considered, with the possibility of AOCD/AOCRD in East Asians.

Asthma is a common pathology worldwide that occurs due to chronic inflammation of the respiratory airways. Persistent pulmonary inflammation leads to low-grade systemic inflammation, influencing blood vessels and triggering coronary artery disease (CAD) events. This review\'s objectives include discussing the susceptible population for CAD, the mechanism underlying CAD creation in asthma patients, the characteristics of asthma, and the influence of anti-asthmatic medications on CAD development. Adult-onset asthma is strongly linked to CAD and stroke. Future research may shed light on these disparities. Atherosclerosis and asthma are linked through both intrinsic and extrinsic pathways, with inflammation being the intrinsic pathway and hypoxia and tachyarrhythmia being the extrinsic pathways. The most probable mechanisms for increased coronary vasospastic angina (CVsA) incidence in asthmatic patients are vascular smooth muscle cell hypercontraction and endothelial dysfunction. Studies have shown a dose-response relationship between asthma control and myocardial infarction (MI) risk, with uncontrolled asthma at the highest risk. Impairment of ventilatory function is a distinct risk factor for lethal MI and cardiovascular death (CVD). The use of beta-2-agonists and chronic oral glucocorticoid therapy in severe asthmatics has been linked to increasing the risk for CAD. However, some studies have shown that the risk of MI among patients with active asthma is not related to the use of asthma medications. Further research is needed to determine the involvement of adult asthma features and their treatments in the development of CAD.

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