SAGE Open Medical Case Reports最新文献

Contactin-associated protein (CNTNAP1) gene mutations have been reported in cases of congenital hypomyelinating neuropathy (CHN), a rare hereditary neuropathy. We present a case of a term male infant born at 39 weeks 4 days with respiratory distress, impaired swallow function, and hypotonia. Neurological workup for structural, autoimmune, neuromuscular, and metabolic etiologies was negative and whole exome sequencing revealed a novel mutation in the CNTNAP1 gene, consistent with a diagnosis of CHN3. While CHN3 cases with mutations in the same domain have required long-term respiratory support, our patient, now 2 years old, has not required respiratory support since his initial birth hospitalization. Neurologically, he now has central hypotonia with hypertonia in the bilateral extremities and global developmental delay. This case adds to a growing number of identified pathological CNTNAP1 mutations and their heterogenous clinical phenotypes and highlights a rare neurological etiology for respiratory distress in newborns.

Pulmonary veno-occlusive disease has a significantly worse prognosis than idiopathic pulmonary arterial hypertension. According to a case series from France, the median survival time from diagnosis to death or lung transplantation was only 1 year, and in a more recent analysis, pulmonary arterial hypertension therapy had no significant effect on survival. There are case reports and case series describing both beneficial and adverse effects of pulmonary arterial hypertension-related medications. The most life-threatening complication of such a therapy is pulmonary oedema. In the long term, lung transplantation remains the best treatment option for suitable patients. However, elderly patients with concomitant or precipitating malignant disease are not considered transplant candidates. We describe a 59-year-old pulmonary veno-occlusive disease patient with multiple myeloma in World Health Organisation functional class IV who was successfully treated with sildenafil for almost 5 years.

Complex regional pain syndrome (CRPS) is a debilitating condition that typically affects one limb, often triggered by acute trauma. Symptoms include persistent pain, skin sensitivity, swelling, and mobility issues. While various therapeutic approaches exist, evidence for the effectiveness of multimodal treatments is limited. A 25-year-old female presented with CRPS following a sciatic nerve injury due to an intramuscular injection. She experienced severe pain, swelling, and limited mobility in her left ankle. Physical therapy assessment revealed significant weakness and limitations in both active and passive range of motion due to pain and swelling. The patient underwent a holistic treatment consisting of osteopathy and rehabilitation exercises over 36 sessions spanning 9 months. Significant improvements were observed after treatment, including reduced pain, increased mobility, and improved nerve conduction. These findings suggest that a multimodal therapeutic approach may be beneficial in managing CRPS and improving patients' quality of life.

Meningitis is a severe infection of the central nervous system. Cryptococcus neoformans is an uncommon fungal agent that can cause meningitis and often manifests unusual symptoms. While this infection is more prevalent in immunocompromised patients, it can also affect immunocompetent patients. A 33-year-old housewife living in the village visited our hospital emergency department complaining of a severe headache and mild fever for 7 days. We diagnosed an unusual occurrence of cryptococcal meningitis with infarction of the splenium of the corpus callosum in a patient who appeared to have a healthy immune system. This disease should be considered in immunocompetent individuals with persistent headache or other neurological findings, even in the absence of overt risk factors.

A prostate abscess is a rare complication of prostatitis, typically observed in patients with conditions such as immunodeficiency, diabetes, urinary tract abnormalities, and chronic indwelling catheters. We present a 60-year-old patient, admitted to the hospital presenting progressively with dysuria for more than 1 year, accompanied by frequent urination, urgent pain, and urinary retention, intermittent fever for 20 days. A multi-parametric magnetic resonance imaging (mpMRI) scan of the abdomen/pelvis showed a prostatic abscess. Initially, meropenem treatment was not effective. Subsequently, the patient underwent an artificial intelligence-assisted mpMRI-TRUS (transrectal ultrasonography) real-time-guided puncture drainage. The results of purulent drainage cultures were positive for K. pneumonia, sensitive to bacillosporin. Thus, the combination treatment of sensitive antibiotics and transperineal drainage was conducted. The patient was followed up for 6 months, the outcome was satisfactory. Timely and appropriate treatments (such as the combination of sensitive antibiotics and artificial intelligence-assisted mpMRI-TRUS real-time-guided transperineal puncture drainage) are crucial for both patient survival and the prevention of complications.

Thoracic outlet syndrome (TOS) is characterized by intractable cervicobrachial pain caused by strangulation of the brachial plexus and subclavian artery by structures of the superior thoracic outlet. We describe percutaneous epidural adhesiolysis for refractory pain due to TOS. A man in his 40s had received nerve block therapy for right upper extremity pain of unknown origin for 5 years. Although imaging findings were negative for TOS, reproducible pain relieved by injection of a local anesthetic into the anterior scalene muscle suggested TOS due to compression by the muscle. Subsequently, since nerve block treatment had only temporary effect and the pain gradually worsened, right T1 epidural adhesiolysis was performed. Thereafter, the pain improved from a numerical rating scale score of 8-9/10 to 2-3/10, continuing for about 3 months. Epidural adhesiolysis was remarkably effective in treating intractable pain caused by TOS due to strangulation of the brachial plexus by the anterior scalene muscle.

Minocycline-induced pigmentation is a rare dermatological condition that primarily affects the skin and thyroid gland, oral mucosa, nails, teeth, bones, and sclera leading to grayish-blue pigmentation in these areas. Early identification, discontinuation of the drug, and laser treatment are crucial in managing this condition. We reported a case involving a 72-year-old Chinese woman who developed diffuse blue-brown pigmentation after 1 year of minocycline treatment for pemphigus vulgaris. Histological examination revealed multiple pigment-laden macrophages and free pigment in the dermis at the skin lesions. According to our review of the literatures, the generalized skin involvement made our case very rare in comparison with those previously reported of Chinese patients.

In patients with a femoropopliteal chronic total occlusion (CTO) after femoro-femoral (FF) bypass surgery, it is often difficult to perform endovascular therapy because of access site problems. We have treated two patients with CTO of the superficial femoral artery (SFA) using an FF crossover bypass graft. The two cases were a man with intermittent claudication and acute limb ischemia, respectively. Enhanced computed tomography showed occlusion of the left SFA and the FF bypass previously performed was patent in both cases. We punctured the right common femoral artery and a guiding sheath was inserted to the left common femoral artery. A guidewire successfully passed through the intraplaque lesion by intravascular ultrasound-guided wiring in both cases. Revascularization was successfully achieved using drug-coated balloons and using drug-eluting stents, respectively. An FF crossover bypass graft may be a good access route for complex femoropopliteal cases, such as CTO lesions.

Lacrimal sac and nasolacrimal duct tumors are extremely rare, and most of them are malignant tumors, which are often misdiagnosed as chronic dacryocystitis. We herein report a rare case of a 29-year-old female, presented with a history of watering in the right eye associated with a rapidly progressive mass for 4 months near the medial canthus. Further clinical examination revealed firm, non-tender mass occupying the lacrimal sac fossa extending above the medial canthus. The systemic examination was unremarkable, with a palpable right submandibular lymph node palpable. Contrast-enhanced computerized tomography (CECT) orbit revealed a well-defined mass at the medial canthus extending into the osseous nasolacrimal canal. An excision biopsy was performed, and histopathology revealed a poorly differentiated sebaceous carcinoma of the lacrimal sac. The oncologist advised CECT chest, face, and neck post-surgery, which revealed malignant neoplastic changes at the right lacrimal sac region and lacrimal duct with metastasis at right nodes I b, II, V, and left nodes I b and II. Five-month follow-up showed no signs of recurrence.

Congenital hiatal hernia is a rare congenital defect and often occurs at a sporadic basis, but familial cases have also been reported. Here, we report on a 3-year-old male patient of Middle-Eastern descent, diagnosed at 5 months of age patient presenting with a congenital hiatal hernia, vermis hypoplasia manifested by axial hypotonia and horizontal nystagmus, preauricular tag, and dysmorphic features with negative genetic mutations, not fitting any reported association or syndrome, suggesting the potential existence of a novel disease entity and highlighting the necessity for further exploration into rare genetic conditions for comprehensive patient care and syndrome characterization.