Case Reports in Medicine最新文献

Background: Hallermann-Streiff syndrome (HSS) is a rare congenital abnormality involving multiple craniofacial malformations, such as micrognathia, prominent frontal and nasal bones, vision defects, and dental anomalies, which can result in obstructive sleep apnea syndrome. The aim of the present study was to report a case of nasal obstruction in an individual with Hallermann-Streiff syndrome who had never breathed through the nose during treatment for lower limb lymphedema involving cervical lymphatic therapy. Case Report. An 18-year-old female adolescent with a diagnosis of HSS was sent from the genetics service of a teaching school for the treatment of lower limb lymphedema. At around 11 years of age, the patient began to present edema in the left leg, accompanied by broadening of the face and neck. The patient reported having obstructed nostrils and breathing through the mouth her entire life. On the second day of treatment, the patient reported being able to breathe through one of the nostrils, this had never occurred before. Based on this finding, the decision was made to include linear facial lymphatic drainage using the Godoy method, which led to the complete resolution of the nasal obstruction in the first 15 minutes of treatment. Nasal obstruction in children with Hallermann-Streiff syndrome may be caused by lymphedema.

Conclusion: A specific lymphatic drainage technique, such as cervical lymphatic therapy and facial linear lymphatic therapy, can resolve the obstruction and maintain the nostrils unblocked for months.

Introduction: Graves' disease is an autoimmune thyroid disorder that is the most common cause of hyperthyroidism. Common manifestations of Graves' disease include weight loss, palpitations, heat intolerance, fatigue, tremors, and exophthalmos, occurring in more than 50% of patients. In rare cases, findings may predominate in one organ system; isolated findings of diarrhea, anxiety, or gynecomastia (as in our case) may occur, distracting from the correct diagnosis. Case Report. We report on a 37-year-old male who presented to the primary care clinic with the chief complaint of a tender right-sided breast mass and with an associated loss of appetite and forty-pound weight loss. Laboratory evaluation revealed suppressed TSH and elevated free T4. A bilateral diagnostic mammogram revealed bilateral gynecomastia. A nuclear medicine thyroid uptake scan was subsequently ordered, which showed the diffusely enlarged thyroid gland with homogenous increased uptake throughout, consistent with Graves' disease.

Conclusion: It is important to keep a high index of suspicion for thyroid disease as hyperthyroid states may be deceiving in presenting with single organ system involvement. Although it is rare, gynecomastia is a known finding in Graves' disease and can be the presenting sign. Patients with unexplained gynecomastia or breast masses should be screened for thyrotoxicosis.

This study presents the clinical and electrophysiological findings of four subjects with a pathogenic heterozygous GDAP1 variant causing Charcot-Marie-Tooth disease 2K (CMT2K) and one additional subject with an uncertain GDAP1 variant and clinical findings of CMT 2K. The study evaluated these five subjects using clinical, laboratory, electrophysiological, and genetic testing. The findings showed that clinical features demonstrated no pes cavus, no significant weakness in the hands or feet, normal reflexes in four out of the five subjects, and mild to normal electrodiagnostic findings. The variant was associated with painful and numb feet with diminished sensation to pinprick. This study suggests that GDAP1 variants may be associated with very mild, predominantly sensory Charcot-Marie-Tooth disease, warranting continuing research for this type of the disease.

Kimura's disease (KD) is a rare chronic inflammatory condition of unknown aetiology. It is a benign disease that might mimic a neoplastic process. It primarily affects the head and neck region, presenting as deep subcutaneous masses, and is often accompanied by triad regional lymphadenopathy, salivary gland involvement, and high serum immunoglobulin E (IgE) levels. Here, we report the second documented case of KD in Palestine diagnosed in a 28-year-old male patient who presented with lymphadenopathy and increased serum immunoglobulin E and G (IgE and IgG) associated with intermittent abdominal pain, generalised fatigue, hepatomegaly, cardiomyopathy, reactive airway disease, peripheral vasculopathy, peripheral neuropathy, and focal segmental glomerulosclerosis. The patient was managed with steroids and an immunosuppressant (Azathioprine) with a moderate response for two years. In 2021, treatment with Mycophenolate Mofetil was initiated, which was more effective than Azathioprine.

Korsakoff's syndrome (KS) is an insidious and progressive neuropsychiatric disorder that affects specific neurocognitive functioning, especially in tasks that require sustained attention, memory, executive functions, and visuospatial functioning. Usually, this disease generates neuropsychiatric complications that worsen the quality of life (QOL) of patients in the medium term. We present a case of a 63-year-old male who presented with a diagnosis of advanced Korsakoff's syndrome and has a clinical history of recurrent memory loss and a history of alcohol abuse. The patient showed difficulty manipulating immediate information, associated with a possible frontal lobe dysfunction, and inability to remember material given through the auditory pathway. The patient showed a psychiatric clinical picture which is constantly worsening his and his immediate caregiver's QOL. The data obtained demonstrate that the patient presents a progressive cognitive impairment, which in the short term is correlated with Korsakoff-type dementia. It is suggested to carry out functional neurorehabilitation plans aimed at improving the QOL of the patient, his immediate caregiver, and future people with this type of diagnosis.

A previously well 32-year-old Chinese male presented with acute bilateral upper and lower limb paralysis upon waking, ten days after the onset of COVID-19 infection. Examination revealed areflexia over all four limbs, associated with reduced muscle strength, but no sensory or cranial nerve deficit. Initial concern was Guillain-Barre syndrome given the acute flaccid paralysis following COVID-19 infection. However, investigations revealed severe hypokalaemia (1.7 mmol/L) and primary hyperthyroidism. He was treated for thyrotoxic periodic paralysis (TPP) with β-blockers, antithyroid medications, and intravenous potassium chloride (KCl). Despite frequent monitoring of potassium, rebound hyperkalaemia occurred with prompt resolution of paralysis.

Objective: The aim of the present study was to report the physiological stimulation of the synthesis of preelastic fibers in the dermis of a patient with fibrosis.

Design: A clinical study was conducted involving the analysis of histological changes in preelastic fibers following treatment for stage II primary lymphedema for the clinical reversal of lymphedema and fibrosis. Setting. University Hospital of the São Jose do Rio Preto of School of Medicine in 2020. Participant was a 67-year-old male patient with late-onset primary lymphedema diagnosed 12 years earlier. Intervention is the lymphatic stimulation using the Godoy method adapted to the treatment of fibrosis. Main outcomes and measures are biopsies before and after treatment. Ten randomly selected histological fields were evaluated using the multipoint morphometric method. The values with this method are relative and expressed as percentages. Statistical analysis was performed with the t-test, considering a 95% significance level.

Results: A visible, significant difference in the percentage of preelastic fibers was found between the preintervention and postintervention slides, which were confirmed by the microscopic evaluation and quantification (4.95 ± 0.64% and 14.70 ± 1.06%, respectively).

Conclusion: The physiological stimulation of the lymphatic system using a specific method resulted in the clinical reduction of fibrosis, the return of the elasticity of the skin, and the stimulation of the synthesis of preelastic fibers.

Exfoliative erythroderma is rare but serious condition, which requires close supervision. We report a rare case of 28-year-old man with kissing lesions of Paederus dermatitis at his right side of neck. The rash caused by Paederus beetle was improved after treatments. However, the patient developed generalized erythema with desquamation and scaling. The patient was successfully treated topically with moisturizing liquid soap and topical moisturizer with emollients and humectants, and triamcinolone lotion was applied on the bright red lesion. The patient was also treated with oral replacement solution and tropical azelaic cream was applied on the hyperpigmented kissing lesion. This case report shows the importance of a diagnostic practice with follow-up examination.

Reports of envenomation induced by Daboia siamensis, a medically important venomous snake in Taiwan, are rare, and species identification might not be definitive. This article reports the complete course of a definite D. siamensis bite. The patient in this report was one of the authors who was bitten on the right palm near the base of the index finger by D. siamensis. The patient experienced local effects, neurological manifestations, and acute kidney injury. The laboratory analysis revealed elevated D-dimer and coagulopathy. The patient was administered 8 vials of antivenom and did not undergo surgical intervention or endotracheal tube intubation, but serum sickness occurred 8 days after antivenom administration. The horse immunoglobulin produced by the Centers for Disease Control, R. O. C. (Taiwan), against D. siamensis was effective and safe in the treatment of the patient. However, the best antivenom administration strategy remains unclear and requires further study.

A 67-year-old female patient presented asymptomatically for further evaluation of a chest mass. Other than significant smoking history, the patient had been healthy with a recently treated case of uncomplicated pneumonia. The mass originated in the aortopulmonary window of the left mediastinum and invaded proximally into the left superior pulmonary vein and subsequently into the left atrium. The mass protrusion into the mitral valve occupied 50% of the left atrium space but showed no clinical symptoms of a valvular blockade. Poorly differentiated squamous cell carcinoma was identified upon biopsy. These findings of a primary lung tumor with atrial extension in an asymptomatic patient point to the importance of age-appropriate screening and standardization treatment modalities.