Background and Clinical Significance: Parkinson’s disease (PD) is a neurodegenerative condition characterized by motor and non-motor symptoms, which significantly impact patients’ autonomy and quality of life levels. Basically, the PD diagnosis is clinical and, in some cases, can be challenging to diagnose due to the heterogeneity of the symptoms. Case Presentation: A 58-year-old woman who, during the COVID-19 lockdown, referred to experiences of slight tremor and stiffness in her left hand at rest, but without any other associated symptoms. Firstly, after consulting a general practitioner (GP), the patient was diagnosed with cervical radiculopathy (CR), presented as essential tremor and stiffness to the hand. Nevertheless, during the initial physiotherapy evaluation, the motor symptoms did not fully align with the diagnosis of CR. For this reason, the presence of non-motor symptoms was thoroughly investigated. Notably, hyperhidrosis was identified as a significant non-motor symptom, leading to the patient’s subsequent referral to a neurologist, who finally diagnosed PD. Conclusions: This case report highlights the essential role of physiotherapists in conducting independent assessments and comprehensive investigations of all patients’ symptoms, even when a medical diagnosis has already been established. This is particularly crucial when there is suspicion that musculoskeletal symptoms may be indicative of neurodegenerative diseases such as PD, which is well-known for its extensive array of non-motor symptoms. Especially in women with PD, non-motor symptoms tend to emerge earlier and in a more subtle manner than motor symptoms, making diagnosis challenging. Therefore, meticulous anamnestic data collection is essential, especially by physiotherapists working in direct-access settings.

Background and Clinical Significance: MSMO1, encoding a key enzyme in the cholesterol synthesis pathway, is associated with an autosomal recessive condition characterized by microcephaly, ocular abnormalities, growth delay, psoriasiform dermatitis, immune dysfunction, and intellectual disability. Case Presentation: This report describes a patient presenting with global developmental delay and bilateral infantile cataracts found to harbor a homozygous likely pathogenic MSMO1 variant and reviews the literature on MSMO1 deficiency and its association with infantile cataracts. Conclusions: The mechanism of early lens opacification is thought to result from impaired cholesterol synthesis, altering the lipid composition of the lens membrane and leading to early cataract formation. This case expands our understanding of MSMO1 deficiency and highlights the critical role of cholesterol biosynthesis in early lens development.

Background and Clinical Significance: Scurvy, caused by chronic vitamin C deficiency, is re-emerging in Western countries, particularly among pediatric patients with highly selective diets. While its musculoskeletal and mucocutaneous manifestations are well-known, its association with pulmonary arterial hypertension (PAH) is rare and poorly understood. Ascorbic acid and iron are essential cofactors for prolyl hydroxylases (PHD), which regulate Hypoxia-Inducible Factors. Their combined deficiency may trigger a “pseudohypoxic” state, leading to pulmonary vascular remodeling and vasoconstriction. Case Presentation: A 30-month-old female presented with a one-month history of limping, lower limb pain, and gingival hypertrophy. Dietary history revealed an almost exclusive cow’s milk-based intake. Physical examination showed diffuse petechiae, pallor, and right knee edema. Laboratory findings confirmed scurvy (undetectable vitamin C), severe iron-deficiency anemia (Hb: 72 g/L; ferritin: 22 mcg/L; RDW: 30%), folate deficiency, and hyperhomocysteinemia. Notably, elevated copper and vitamin B12 levels suggested a state of metabolic dysregulation. Echocardiography revealed moderate PAH phenotype (estimated sPAP: 47–50 mmHg) and a hyperdynamic contractility. A “perfect storm” mechanism was hypothesized, involving iron–ascorbate-dependent PHD impairment, high-output state, and oxidative-stress-induced hepcidin dysregulation (suggested by elevated copper). Following intravenous vitamin C and multivitamin supplementation, pulmonary pressures normalized within one week. Conclusions: PAH phenotype in scurvy represents a reversible metabolic disruption of pulmonary vascular tone rather than a structural disease. This case underscores the synergistic role of vitamin C, iron, and folate in vascular homeostasis. Clinicians should maintain high suspicion for scurvy in children with selective diets and unexplained PAH, as nutritional restoration is curative.

Background and Clinical Significance Merkel cell carcinoma (MCC) is a rare and aggressive neuroendocrine skin malignancy. Early diagnosis is essential to optimize therapeutic strategies and improve prognosis. However, the role of high-frequency ultrasound (HFUS) in the diagnostic and follow-up phases of MCC remains under-investigated and underutilized in clinical practice. Case Presentation We present a case of MCC initially referred to a physiatric outpatient clinic for a functional disorder of the third finger, where HFUS revealed a well-circumscribed, hypoechoic subdermal lesion with central and peripheral vascularity. Surgical excision, histopathology, and immunohistochemistry confirmed the diagnosis of Merkel cell carcinoma. The HFUS findings were correlated with histological features, and a structured sonographic follow-up protocol was established postoperatively. Conclusions This case highlights the diagnostic and prognostic potential of HFUS in MCC, especially in early detection, surgical planning, and longitudinal follow-up. A multidisciplinary approach integrating ultrasound imaging, surgery, and pathology may enhance diagnostic accuracy and patient management.

Background and Clinical Significance: Metastatic carcinoma of the lacrimal sac originating from primary nasopharyngeal carcinoma (NPC) is a rare entity, usually presenting with chronic, unilateral epiphora. Case Presentation: A 55-year-old male patient presented with symptoms of chronic persistent dacryocystitis of the left eye for a year. His history revealed a non-keratinizing NPC diagnosed 5 years earlier, which was treated with combined radiotherapy (RT) and chemotherapy (CMT). Following CT and MRI scans, a mass was identified at the left lacrimal sac suggestive of a neoplasm in that region. The patient underwent endoscopic dacryocystorhinostomy (DCR), with tissue samples taken for biopsy. The histopathological diagnosis revealed a metastatic carcinoma of the lacrimal sac originating from the nasopharynx. The postoperative course was uneventful. However, a follow-up positron emission tomography-computed tomography (PET-CT) scan showed a hypermetabolic lesion in the left orbital cavity, infiltration of the lacrimal sac, hypermetabolic lateral cervical lymph nodes (IIA-IIB), and a hypermetabolic parotid lymph node. The patient is currently receiving combined CMT and immunotherapy (IMT) and is scheduled to receive RT thereafter. Conclusions: The non-specific symptomatology of the disease might be a reason for delayed diagnosis. Early recognition requires a high index of suspicion, while therapy mainly focuses on RT, CMT, IMT, and rarely on surgical approaches. A multidisciplinary approach and coordination are indispensable for the best possible treatment outcome.

Background and Clinical Significance: Absorbable haemostatic agents such as Surgicel® Fibrillar are useful adjuncts to control post-surgical bleeding in cardiac surgery. The material is purposefully left in situ and it slowly degrades over time. Previous publications, mainly in general and gynaecological surgery, have demonstrated that these materials can mimic gangrenous infection, abscesses, anastomotic leak, and early tumour recurrence in imaging studies. These findings can often lead to unnecessary re-interventions or re-operations. The number of reports in the cardiothoracic surgical field is limited. Case Presentation: We report a 45-year-old man who underwent aortic valve replacement and ascending aorta and hemiarch replacement. In this case, Surgicel® Fibrillar was used to optimise graft contouring, contributing to postoperative imaging appearances that initially raised concern for infection. The patient was conservatively managed given his stable clinical picture and focused review of CT images with the knowledge of location of Surgicel® Fibrillar. Repeat CT scan after 2 weeks showed a significant reduction in collection size and complete resolution of air bubbles within the collection. Conclusions: It is important for cardiothoracic surgeons and radiologists to be aware of the early CT appearances of haemostatic agents to minimise erroneous diagnosis of postoperative complications leading to unnecessary interventions. This case highlights a diagnostic pitfall in postoperative imaging, where retained absorbable haemostatic material may mimic serious infective complications and lead to unnecessary re-intervention if operative and radiological findings are not carefully correlated.

Background and Clinical Significance: Radiation-induced lumbosacral plexopathy (RILP) is a rare but potentially debilitating complication of radiotherapy, typically affecting patients treated for pelvic malignancies. We report the first documented case of asymmetric RILP following radiotherapy for breast cancer. Case Presentation: A 64-year-old woman developed progressive left lower limb weakness, foot drop, and sensory disturbances four years after receiving locoregional radiotherapy extending to the left thoracoabdominal and lumbar areas. Electrophysiological studies revealed an asymmetric sensorimotor axonal neuropathy predominantly involving the left lower limb, without conduction block and sparing the upper limbs, whereas needle electromyography of the lower limbs showed fibrillation potentials, positive sharp waves, and fasciculations in the vastus lateralis, tibialis anterior, and medial gastrocnemius muscles on the left. Magnetic resonance imaging demonstrated edema and contrast enhancement of bilateral L2–L4 nerve roots with paraspinal muscle atrophy. Cerebrospinal fluid analysis showed albuminocytologic dissociation and elevated neurofilament levels. After exclusion of alternative diagnoses, including amyotrophic lateral sclerosis and inflammatory neuropathies, a diagnosis of radiation-induced peripheral neuropathy and RILP was made. The patient’s condition stabilized with physiotherapy and symptomatic treatment. Conclusions: This case highlights the need for heightened awareness of RILP as a late complication of breast cancer radiotherapy, underscoring the importance of accurate diagnosis to avoid misclassification and unnecessary treatments. Clinicians should carefully integrate all clinical elements—including a thorough remote medical history—since radiation-related neurological damage may manifest many years after the initial insult.

Background and Clinical Significance: Mantle cell lymphoma (MCL) frequently involves bone marrow, gastrointestinal tract, and hepatosplenomegaly, whereas pleural effusions are uncommon. Cases requiring invasive mechanical ventilation and thoracic drainage are rare. We report a case of MCL with persistent massive pleural effusions requiring invasive mechanical ventilation and bilateral continuous thoracic drainage. Case Presentation: A 71-year-old woman presented with dyspnea and was found to have bilateral pleural effusions and generalized lymphadenopathy. Shortly after admission, she developed acute respiratory failure due to pleural effusions and required invasive mechanical ventilation. Right-sided continuous thoracic drainage was initiated. Thereafter, more than 1 L of pleural fluid was drained each day. Flow cytometry of the pleural fluid showed CD5-positive B cells with kappa light-chain restriction. Bone marrow examination revealed abnormal lymphocyte infiltration. Cervical lymph node biopsy demonstrated diffuse proliferation of medium-sized, abnormal B lymphocytes with an immunophenotype of CD5+, CD19+, CD20+, cyclin D1+, SOX11+, and κ+, with a Ki-67 index of 20%, confirming MCL, stage IV. Immunochemotherapy with rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone (R-CHOP) was commenced under mechanical ventilation. Shortly thereafter, left-sided continuous thoracic drainage was also initiated. However, in response to immunochemotherapy, the bilateral pleural effusions gradually subsided, enabling extubation, and there was no reaccumulation after removal of both chest tubes. Furthermore, generalized lymphadenopathy regressed, and bone marrow examination revealed resolution of lymphoma infiltration, resulting in complete remission. Conclusions: De novo MCL complicated by persistent massive pleural effusions requiring invasive mechanical ventilation and bilateral continuous thoracic drainage is rare. A thorough diagnostic workup followed by prompt initiation of immunochemotherapy can arrest pleural output, enable extubation, and be lifesaving. Clinicians should recognize that MCL rarely presents with persistent massive pleural effusions.

Background and Clinical Significance: Oral ulcers are a common disease for dental practitioners. The policy of treating oral ulcers includes removing etiology and medication. Standard management of oral ulcers includes elimination of etiologic factors and pharmacologic therapy. Topical corticosteroids are the most commonly used medicine for oral ulcers. Exclude possible etiologies related to ulcers; refractory ulcers need systemic evaluation and precise medication use to improve patients’ quality and satisfaction. Case Presentation: We present a case of refractory oral ulcers resistant to multiple conventional treatments, which were found to be ineffective. These ulcers significantly impact patient quality of life. We prescribed a series of oral ulcer treatments following the removal of cause factors, such as rounding the teeth and making a soft occlusal bite plate to reduce traumatic sources from the patient’s Parkinson’s disease. A biopsy of the ulcer lesions was also done. All the treatments involving corticosteroids and removing the ulcer-associated etiology were ineffective. Conclusions: Finally, combined therapy using low-dose thalidomide (50 mg/day) and colchicine (1.5 mg/day) resulted in substantial clinical improvement, and complete remission was sustained for over six months without recurrence. A narrative discussion of relevant literature is provided to contextualize therapeutic considerations in refractory oral ulceration. Conclusion: This case suggests that low-dose thalidomide and colchicine combination therapy may be a therapeutic consideration for refractory oral ulcers when conventional management fails; however, the observation is hypothesis-generating and further studies are required to evaluate efficacy and safety.

Background and clinical significance: Wiedemann–Steiner syndrome (WSS) is a rare autosomal dominant neurodevelopmental disorder caused by heterozygous pathogenic variants in the KMT2A gene, which encodes a histone lysine methyltransferase essential for chromatin regulation. Affected individuals commonly present with developmental delay, intellectual disability, behavioral disturbances, short stature, characteristic facial features, and hypertrichosis, along with variable additional congenital anomalies. Emerging genotype–phenotype correlations suggest two functional classes of KMT2A variants: loss-of-function variants, typically associated with the classic WSS phenotype and muscular hypotonia, and non-loss-of-function variants, which more often correlate with drug-resistant epilepsy and microcephaly. No recurrent variants or clear genotype–phenotype correlations have been established outside the CXXC domain, and most pathogenic variants are private or novel, contributing to phenotypic heterogeneity. Case presentation: We present a case of a 14-year-old female with a pathogenic nonsense truncating variant in the KMT2A gene and typical features of Wiedemann–Steiner syndrome. Additionally, the patient exhibited microcephaly and structural epilepsy due to neuronal heterotopy—features that are rarely described in individuals with truncating variants in this gene and have not been reported in the two published cases of individuals with the same mutation. Conclusions: This case highlights atypical genotype–phenotype correlations and expands the clinical spectrum of truncating KMT2A variants in Wiedemann–Steiner syndrome.