Clinical Medicine Insights. Case Reports最新文献

Background: Primary deficiency of coenzyme Q₁₀ deficiency-4 (CoQ₁₀D4) is a heterogeneous disorder affecting different age groups. The main clinical manifestation consists of cerebellar ataxia, exercise intolerance, and dystonia.

Case report: We provide a case of adolescence-onset ataxia, head tremor, and proximal muscle weakness accompanied by psychiatric features and abnormal serum urea (49.4 mg/dL), lactate (7.5 mmol/L), and CoQ10 level (0.4 µg/mL). Brain-MRI demonstrated cerebellar atrophy, thinning of the corpus callosum, and loss of white matter. Whole exome sequencing showed a homozygous missense mutation (c.911C>T; p.A304V) in CoQ8A gene which is a rare mutation and responsible variant of CoQ₁₀D4. After supplementary treatment with CoQ₁₀ 50 mg/twice a day for 2 months the clinical symptoms improved.

Conclusion: These observations highlight the significance of the early diagnosis of potentially treatable CoQ8A mutation as well as patient education and follow-up. Our findings widen the spectrum of CoQ8A phenotypic features so that clinicians be familiar with the disease not only in severe childhood-onset ataxia but also in adolescence with accompanying psychiatric problems.

Granulomatosis with polyangiitis is a rare autoimmune disease that affects small to medium-sized blood vessels throughout the body. Here, we present a case of an infratemporal mass that was the result of granulomatosis with polyangiitis. A 51-year-old male presented to the emergency department due to right cheek and facial pain that he had been experiencing for 2 to 3 months. An MRI revealed a mass within the right infratemporal and pterygopalatine fossae extending into the inferior right orbital fissure along the maxillary division of the trigeminal nerve (V2) and the vidian nerve causing concern for malignancy. Histology from an endoscopic biopsy demonstrated multiple arteries with luminal obliteration with non-necrotizing granulomas. The patient was started on steroids and immunosuppressive therapy, which improved his symptoms and decreased the size of the residual mass. This case illustrates the need for laboratory testing, imaging, and biopsy of the involved tissue in cases where GPA is suspected to prevent treatment delays that could lead to the destruction of vital organs.

Background: Systemic lupus erythematosus (SLE) is an autoimmune disorder affecting multiple organs with different degrees of severity. SLE is typically diagnosed based on the presence of antinuclear antibodies (ANA) in the serum. However, seronegative SLE is rare and is diagnosed by clinicians when the patient's ANA is negative but fulfills other diagnostic criteria.

Case report: We report a case of a 15-year-old South Asian female with SLE who had negative antinuclear antibodies yet displayed the typical clinical presentations of photosensitive maculopapular rash, joint pain, alopecia, anemia, and thrombocytopenia. Clinical evaluations in conjunction with lab results were used to establish a diagnosis of ANA-negative SLE.

Conclusion: ANA positivity is an entry criterion for SLE; rarely, cases of ANA-negative SLE may present. A typical clinical presentation may help determine the diagnosis in such a scenario. However, still, the physician should rule out immunodeficiency and other systemic illnesses before reaching a diagnosis of ANA-negative pediatric SLE.

Multiple myeloma is a hematologic malignancy and a subtype of plasma cell dyscrasias, which accounts for 13% of all hematologic malignancies. It mainly affects older adults and is diagnosed in only 2% of the young population under the age of 40 years. This report presents a 33-year-old man diagnosed with Multiple myeloma with 4 poor prognostic specifications consisting of amplification of the 1q21, Translocation of t(4;14), deletion of the 6q21 and 13q14, along with decreased chromosome count to 44, X,-Y. Even though the combination of 4 poor prognostic cytogenetics in young patients is rare, he responded significantly to the Bortezomib regimen. He was selected as a candidate for bone marrow transplantation. The treatments get interrupted 2 days after the first session of the fifth cycle due to an undesirable COVID-19 infection. After 20 days, the symptoms return, and paraclinical findings show signs of MM relapse.

Bacterial vaginosis (BV) affects nearly one-third of women worldwide and may predispose patients to sexually transmitted infections or pelvic inflammatory disease. Currently recommended treatment is based on antibiotic use, which poses problems such as antibiotic resistance and the development of secondary vaginal candidiasis. Palomacare^® is a non-hormonal vaginal gel containing hyaluronic acid, Centella asiatica and prebiotics, with repairing and moisturizing properties used for dysbiosis healing as an adjuvant treatment. A series of 3 cases using the vaginal gel as a monotherapy showed that symptoms improved and even disappeared in women with initial or recurrent BV, suggesting that this vaginal gel is effective for BV monotherapy in women of reproductive age.

Background: Ovarian ectopic pregnancy is a rare form of non-tubal ectopic pregnancy. It can rupture before the end of the first trimester, causing hemoperitoneum, and present with signs and symptoms similar to other commoner abdominal emergencies or the pregnancy can continue intraperitoneally. Therefore, they are not often diagnosed preoperatively. Ultrasound can assist in diagnosis of ovarian ectopic pregnancy but the findings could be ambiguous or inconclusive. We present a case of ruptured ovarian ectopic pregnancy at the second trimester causing massive hemoperitoneum that was suspected as an intrabdominal malignancy co-existing with intrabdominal pregnancy.

Case presentation: She was a 34 year-old Nigerian unbooked G4P3+0, (3 alive), who presented to the labor ward on 21st January, 2021 with a complaint of a 6-week history of abdominal pain and swelling. Pain was insidious in onset, generalized, non-colicky, non-radiating, constant, no known aggravating or relieving factor, but it was of moderate intensity. She had amenorrhea with a positive serum pregnancy test without prior early ultrasound. At presentation, initial abdominopelvic ultrasound revealed intra-uterine viable pregnancy but repeat ultrasound done showed a left adnexal ectopic gestation and an echo-rich intraperitoneal fluid collection. Laparotomy was done and ovarian pregnancy was accurately diagnosed intra-operatively. Tissue samples from the ovary confirmed normal products of conception, namely chorionic villi, trophoblastic cells and ovarian stroma at histology.

Conclusion: Despite advances in imaging techniques, the diagnosis of ovarian ectopic gestation is still very difficult. When premenopausal women present with amenorrhea, generalized non-colicky abdominal pain and swelling in combination with ambiguous findings of pregnancy on ultrasound in the absence of trauma, differential diagnoses should include ruptured ovarian pregnancy. Obstetricians should maintain a high index of suspicion to forestall delayed diagnosis and the potential maternal morbidity and mortality. However, the need for high-index of suspicion should be for any ectopic, not just ovarian pregnancy.

Dopamine agonists are the first-line treatment of prolactinomas. The risk of developing de novo psychiatric symptoms during dopamine agonist therapy is low. Herein, we report the case of a 42-year-old woman with a giant prolactinoma who developed a psychiatric disorder after 1 day of cabergoline therapy initiation. She presented with amenorrhea, galactorrhea, headaches, and disturbed vision. Biological investigations revealed hyperprolactinemia (2975 ng/ml) with gonadotropin deficiency. Pituitary MRI showed a giant pituitary adenoma. The patient was treated with cabergoline at the dose of 1 mg twice weekly. One day after the treatment initiation, she developed acute delirium with temporospatial disorientation and compulsive medication use. These symptoms disappeared 1 week after the reduction of the dose of cabergoline. Patients with hyperprolactinemia receiving an initial high dose of cabergoline may develop changes in mood and behavior regardless of prior psychiatric history.

A late consequence of COVID-19, organizing pneumonia is characterized by significant imaging and pathological abnormalities. The goals of this study are to better understand these abnormalities. The use of corticoid continues to be the recommended course of treatment for COVID-19. On the other hand, it is not clear whether or not corticoid has the same impact on organizing pneumonia after COVID-19. A 53-year-old male patient was identified with organized pneumonia following COVID-19 infection. He was diagnosed after experiencing severe respiratory symptoms several days with no improvement. We initiated a high dose of corticoid based on imaging and pathological findings and observed a significant response. In addition, we looked into the research that has been done concerning the diagnosis and treatment of this peculiar ailment. Patients who have been diagnosed with pneumonia after COVID 19 are required to undergo a reevaluation that includes a chest CT scan, and some of these patients may be candidates for an early lung biopsy. The most effective and convincing therapy for COVID-19-induced organizing pneumonia is corticoid treatment at a dose equivalent to 0.5 mg/kg/day of prednisone.

Background: The development of medicine, especially in oncology, has been helping prolong the cancer patients' survival, but also leads to increasing the possibility of getting multiple cancers. However, the possibility of getting 4 primary cancers in 4 different sites is extremely rare.

Case presentation: A 63-year-old female patient was diagnosed with thyroid cancer in 2018, and then with right colon cancer in 2019. In 2020, this patient was diagnosed with left renal pelvis cancer, and most recently, in April 2022, she was hospitalized with bladder cancer diagnosis. Thanks to being closely and regularly followed-up, her malignancies had been detected early and treated suitably. Her health remains stable now and she is under following-up.

Conclusion: Even though developing another primary cancer in a cancer survivor is not uncommon now and has the tendency to increase, a patient having 4 primary cancers in 4 different sites is still extremely rare and should be noticed, further followed up and investigated. Cancer patients and survivors need to be followed-up regularly, to early detect not only the progression or recurrence but also the second cancer (if it exists), to get timely and suitable treatment.

Langerhans cell histiocytosis (LCH) is a rare disorder most commonly involving skin, bone and lung. The gastrointestinal tract (GIT) is an uncommon site of disease and only a handful of case reports exist. We present a case of a 15-year old boy with treated LCH involving the skin, bones, central nervous system (CNS) and pituitary gland. He presented with rectal bleeding and on investigation was found to have a single rectal polyp which was confirmed histologically and immunologically to be LCH. Further investigation revealed no other foci of disease.