pISSN: 2538-2683
eISSN: 2538-2691
Editor-in-Chief:
Shahin Akhondzadeh
Editor-in-charge:
Seyed Farshad Allameh
Current Issue
Vol 10 No 6 (2025): November- December
Case Report(s)
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Mülle rian duct anomalies (MDAs) are congenital malforma tions resulting from abnormal development of the Müllerian ducts. Among these anomalies, MayerRokit ansky -Küster-Hauser (MRKH) syndrome, characterized by uterine and vaginal agenesis or aplasia, is a severe form often presenting with primary amenorrhea. This
case involves a 25-year-old woman with vaginal bleeding , diagnosed by MRI as having MRKH syndrome with cervicovaginal atresia and unde scended ovaries. The patient unde rwent hysteroscopy and improved post-surgery. MRKH syndrome requires a multidisciplinary appr oach f or manag ement, including surgical in tervention, psychologic al support, and fertility counseling , highligh ting the import ance of early diagnosis and personalized care. -
Myeloperoxidase (MPO) deficiency is a rare genetic disorder affecting neutrophil and monocyte function. It can present with diverse clinical manifestations, from recurrent infections to unexplained systemic symptoms. Here, we present two cases of MPO deficiency with distinct presentations: a 47-year-old female with recurrent pneumonia and a 25-year-old male with pruritus. Both patients were found to have neutropenia, leading to further hematologic evaluation and confirmation of MPO deficiency. This report highlights the variability in clinical manifestations and underscores the importance of considering MPO deficiency in patients with unexplained neutropenia.
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Mucormycosis is a rare, aggressive, and often fatal fungal infection that primarily affects immunosuppressed and diabetic patients, causing soft-tissue lesions. Early detection and prompt management are crucial. We present a case of mucormycosis following dental extraction in a patient with diabetes. A 48-year-old diabetic Iranian Baluch woman with multiple dental caries developed left eye exophthalmia and headache one week after an Afghan unlicensed dentist in Iran extracted four teeth from her left maxilla to alleviate pain and inflammation in her maxillary premolars and molars. Diagnostic tests confirmed that mucormycosis had spread from the extraction site to the surrounding soft tissue, sinuses, left eye, and brain. Diabetes significantly
increases the risk of mucormycosis infections. In patients with tooth caries and infections, mucormycosis should be considered as a potential diagnosis. Timely diagnosis and treatment are crucial prior to dental procedures to prevent spread to the sinuses and brain. -
Pulmonary small cell carcinoma typically metastasizes to lymph nodes, liver, adrenal glands, brain, and pleura; thyroid involvement is exceptionally rare. A 57-yearold woman presented with an eight-month history of progressive dyspnea. Clinical examination revealed an enlarged thyroid gland with palpable nodules in both lobes. Contrast-enhanced chest CT demonstrated a lobulated right hilar mass extending into the posterior mediastinum. CT-guided biopsy of the hilar lesion confirmed small cell lung carcinoma on histopathology. Fine needle aspiration of the thyroid nodules yielded hypercellular smears containing medium-sized round cells with hyperchromatic nuclei. To exclude primary medullary thyroid carcinoma with pulmonary metastasis,
serum calcitonin and carcinoembryonic antigen (CEA) were measured, revealing levels of 20 pg/mL and 49.91 ng/mL, respectively. Integrating these findings, the diagnosis of pulmonary small cell carcinoma with thyroid metastasis was established. This case underscores that, although rare, the thyroid gland can serve as a metastatic site for small cell lung carcinoma. Therefore, in patients with a known primary malignancy,
the appearance of a new thyroid nodule warrants prompt evaluation for possible metastatic disease. -
Respiratory complications are the leading cause of mortality in Down syndrome, yet “Down syndrome-associated lung disease” (DSLD) remains frequently underrecognized. DSLD represents a distinct phenotype characterized by the convergence of alveolar simplification, vascular dysgenesis, and immune dysregulation. I present a 2.5-year-old boy from those who visit the clinic with trisomy 21 and congenital hypothyroidism who presented with failure to thrive, progressive tachypnea, and signs of right heart failure. Physical examination revealed diffuse fine crackles and a loud P2. Echocardiography confirmed severe, suprasystemic pulmonary arterial hypertension (PAH) disproportionate to his minor cardiac septal defects. Highresolution computed tomography (HRCT) demonstrated the hallmark findings of DSLD: diffuse subpleural cysts and interlobular septal thickening. Polysomnography confirmed concurrent moderate obstructive sleep apnea. This case illustrates the aggressive nature of DSLD, where structural alveolar hypoplasia (subpleural cysts) correlates with intrinsic vascular fragility and severe PAH. The patient’s stabilization required a multimodal strategy targeting three pathogenic axes: hemodynamic offloading (sildenafil), airway obstruction (CPAP/surgery), and parenchymal inflammation (corticosteroids). Clinicians must recognize subpleural cysts as a “red flag” for this complex pan-pulmonary disorder to initiate early, targeted intervention.
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Cervical agenesis, a rare birth defect affecting the female reproductive system, is often accompanied by vaginal agenesis in only 39% of cases. In the past, the standard treatment for this condition was hysterectomy. However, as medical technology and techniques continue to advance, more conservative surgeries and assisted reproductive methods are now being considered as the primary treatment options. Nevertheless, complications such as restenosis, pelvic abscess, and recurrent pelvic endometriosis should always be considered. We report a case of cervicovaginal agenesis complication after reconstructive surgery in a 16-year-old adolescent girl. A conservative surgical approach to cervical malformations may cause complications
that can be prevented or managed by regular follow-ups. -
Pituitary apoplexy resulting from metastatic disease is an uncommon and rapidly progressive clinical presentation. This report details the case of a gentleman who presented with episodic severe headaches, a unilateral third nerve palsy, and progressive visual field loss. Initial blood tests indicated an abnormal pituitary
hormone profile, while MRI imaging revealed a sellar mass exhibiting features consistent with apoplexy. Due to the acute threat to his vision, an urgent review was conducted at a pituitary multidisciplinary meeting, leading to endoscopic transsphenoidal decompression. The patient had a prior history of colorectal cancer, treated 18 months earlier and previously regarded as in remission. Subsequent histological analysis confirmed that the pituitary lesion was a metastasis from colorectal cancer. This case illustrates the diagnostic and therapeutic complexities inherent in managing this rare presentation. -
Turner syndrome is a rare but not uncommon genetic syndrome due to partial or complete loss of X-chromosome in females. Various chromosome anomalies identified are 45X0, isochromosome Xq, ring X, deletion Xp, or an abnormal Y chromosome, most common being 45X0.Clinical features depends on the type of chromosome anomaly present while generally include short stature, primary amenorrhea, hypogonadism.
Hereby, we report a case of 18 year old female with Mosaic turner syndrome who presented with clinical finding of short stature with primary amenorrhea with coarctation of aorta. Patient was managed with multi-disciplinary approach that include growth hormone replacement, puberty induction and planning for ductal stenting. -
Cesarean scar–related masses represent a diagnostic challenge due to overlapping clinical and imaging features. Scar endometriosis is often the leading consideration; however, other entities may closely mimic its presentation. We report the case of a 33-year-old woman with a history of three cesarean sections presenting with chronic pelvic pain and abnormal uterine bleeding. Imaging studies, including transvaginal ultrasonography and non-contrast magnetic resonance imaging (MRI), revealed a lesion at the cesarean scar highly suggestive of scar endometriosis. Based on these findings, surgical intervention was planned.
Intraoperative exploration demonstrated a cystic lesion beneath the bladder peritoneum containing purulent material. Complete excision was performed. Histopathological examination confirmed abscess formation with no evidence of endometriosis. This case highlights the limitations of imaging in differentiating cesarean scar lesions and emphasizes the importance of considering chronic abscess in the differential diagnosis, particularly when laboratory findings are discordant or imaging is inconclusive. Surgical exploration remains essential for definitive diagnosis and management. -
Left-sided gallbladder (LSGB) is an exceedingly rare congenital anomaly;the occurrence of malignancy in a left-sided gallbladder is even rarer, making this case particularly unique. To the best of our knowledge, this is the first reported case of malignancy in an LSGB. A 65-year-old male presented with a two-month history of right upper quadrant abdominal pain with no history of jaundice or weight loss. Ultrasound of the abdomen revealed a suspicious mass in the gallbladder. CT scan of the abdomen confirmed an LSGB with diffuse irregular enhancing thickening of the gallbladder walls in the region of the body and fundus, infiltrating segment III of the liver and forming a moderate-sized intrahepatic soft tissue lesion measuring 43*33 mm, with TNM stage T3N0. The patient’s blood investigations were within normal limits, with CA 19.9 levels at 70 U/ml. The patient underwent staging laparoscopy and open extended cholecystectomy, which involved resecting the
gallbladder along with a 3 cm wedge of liver (segments III, IVb) with clear gross margins, along with lymphadenectomy of stations 8, 9, 12, 13, and the right side of station 9. The patient had an uneventful postoperative recovery and was discharged on postoperative day 4. Histopathological examination revealed a pT3N0 (0/16) poorly differentiated adenocarcinoma with clear margins. The patient received adjuvant chemotherapy with 6 cycles of capecitabine. At one-year follow-up, the patient was doing well with no evidence of recurrence. In conclusion, malignancy in a left-sided gallbladder is a very rare occurrence, this being the
first case report of such a condition. Successful management requires a thorough knowledge of biliary and hepatic anatomy, good preoperative imaging work-up, and a tailored surgical approach to achieve optimal outcomes.
