Journal of Clinical Case Reports

Genital tract differentiation and development is a complex process beginning early in embryonic life. Mutation or translocation of the sex-determining region of the Y chromosome (SRY) may lead female genotype to become a male. The absence or genetic mutation of the SRY leads to a male phenotype individual but a female genotype individual (46xx), which is labeled as a Disorder of Sex Development (DSD). We are presenting an 18-year-old male who presented to the endocrine clinic with delayed puberty. There was no apparent predisposing factor upon review of his natal, childhood, and recent history. He had a no secondary sexual characteristics; stretched penile size was 5 cm, and the volume of both testes was around 4 ml. Biochemical assessment showed Hypergonadotrophic hypogonadism, while the peripheral blood Karyotyping showed SRY-positive 46XX/47XX DSD. This is the first reported case with SRY 46XX/47XX, although the somatic changes were not different from the rest of the genetic mutation. The spectrum of the DSD presentation is increasing in the population with time, which necessitates meticulous assessment in early infancy, and genetic screening whenever we suspect this condition. The threshold of suspicion of such diseases should be lower.

Juvenile Granulosa Cell Tumors (JGCTs) of the ovary are rare. They usually present in children and adolescents. About 90% are diagnosed in early stage (FIGO I) with a favorable prognosis. More advanced stages (FIGO II-IV) usually have a poor clinical outcome. We report a case of long-term survival of a teenager with Stage III JGCT treated with aggressive debulking and thorough staging, but conservative surgery relative to the uterus, contralateral uninvolved ovary, and fallopian tube, plus combination chemotherapy. Her tumor recurred twice, 18 months and 17 years later, for which she had two additional surgeries and more chemotherapy. Because of the fertility sparing surgery, she was able to achieve 3 pregnancies and 4 children.

Bisphosphonates-induced avascular osteonecrosis of the jaw is rarely reported after osteoporosis’ treatment. We report a case of Jaw avascular osteonecrosis associated with a residronate oral treatment for post menopausal osteoporosis in a 49-year-old woman. She presented with jaw pain, difficulty in masticating following teeth avulsions. The clinical appearance simulated dental abscesses. The radiological exam showed a large osteolysis of the left posterior region of right mandible. The diagnosis of avascular necrosis of the jaw was retained. She was treated by ablation of bone sequestrum associated to an antibiotic treatment associated with hyperbaric oxygen treatment. Currently, the recommended treatment for this osteonecrosis is essentially symptomatic and conservative. The preventive treatment consists on a complete dental evaluation performed before starting bisphosphonate treatment

Aims: Pulmonary sclerosing pneumocytoma is a rare benign neoplastic tumour. It is often discovered incidentally
in chest X-ray or chest CT scan performed for others reasons. We present here a case of pulmonary sclerosing
pneumocytoma and discuss the clinical, histopathological features and treatment of this tumour in light of the data
of the literature.
Methods and Results: We report the case of pulmonary sclerosing pneumocytoma found in 66-year-old woman
on chest CT scan performed for staging of a breast cancer. The patient underwent a left lower lobectomy and ipsilateral
médiastinal lymph node dissection because frozen section examination suggested papillary adenocarcinoma.
Conclusion: Most occurrences of pulmonary sclerosing pneumocytoma is often discovered incidentally. It is a
rare benign tumour that frozen section examination is unable to diagnosis them in 25 to 56% of cases. The prognosis
after surgical resection is excellent.

 

Objective: Corticosteroids generally result in short-lasting neuropsychiatric symptoms following cessation, but
the following case highlights an unusually long-lasting course of symptoms in a patient following near immediate
cessation of medication, despite medication management and electroconvulsive therapy. The case presentation
will be followed by a discussion of the presentation, treatment, mechanism, and management of steroid induced
neuropsychiatric symptoms.
Methods: The patient was followed from symptom onset to resolution.
Results: The patient’s symptom course was unusually long and required a long course of multi-modal therapy.
Conclusions: Corticosteroids are commonly used medications both in a wide variety of medical settings,
and despite this, their neuropsychiatric effects are poorly understood. The affective and behavioral symptoms, in
particular mania and psychosis, can be unpredictable and challenging to treat as in our patient, who developed a
long lasting psychotic episode on high dose steroids, despite having tolerated them multiple times in the past and
whose very marked symptoms persisted, despite discontinuation and treatment for almost 6 months.

Purpose: Evaluation of plasma d-dimer level as a predictive marker of advanced carcinoma breast.
Backround: The relationship between malignancy and thrombosis is known for over 100 years. Thrombocytosis,
an increase in fibrinogen and fibrin degradation products like D-dimer, a rise in factors V,VII,VIII , IX, and XI levels,
and a decrease in antithrombin III , are seen in cancer patients. Extracellular remodeling of fibrin is essential for
angiogenesis in tumors, and activation of intravascular fibrin formation and degradation has been shown to occur in
the plasma of breast cancer patients.
Material and methods: This study was conducted in the Department of Surgery in I.G.M.C. Shimla & included
90 patients admitted in surgery ward/ presenting in the O.P.D. Patients were randomized into three equal groups
of 30 patients each. Group 1 included patients of Diagnosed breast Carcinoma and Group 2 included patients of
Diagnosed Benign breast diseases and Group 3 included Healthy females. Plasma D- Dimer value of all groups
were compared. Modified radical mastectomy was performed of Group 1 patients. HPE of breast specimen done and
pathological examination report were analysed with Plasma D- Dimer value.
Results: Plasma D-Dimer value was normal i.e. <0.25 mg/l in all Group 2 & Group 3 patients, while in Group 1
it was increased in 90% of the patients.
There was stasticaly significant correlation between Mean values of plasma D- Dimer and advancing stage of
disease, tumour size histological grade and lymphovascular invasion.
Conclusion: Plasma D-Dimer level is elevated in breast carcinoma, especially in those with advanced stage.
Increased D-Dimer level is a important marker of clinical stage, lymhovascular invasion, lymph node involvement
& tumor metastasis. So Preoperative Plasma D-Dimer may prove to be a safe, convenient and easily available
predictive marker of advanced breast carcinoma.

Background: Synovial sarcomas most commonly occur in the soft tissues of the extremities of young adults. A
primary occurrence in the mediastinum is very rare with only a few reported cases in the world literature.
Study aims: to insist on the rarity of this pathology, its imaging features and the importance for recognizing
unusual presentation of this aggressive neoplasm to aid appropriate clinical management.
Cases: Here in, we report a rare case of primary monophasic spindle cell synovial sarcoma of the mediastinum
in a 31-year-old man who had an incidental finding of such a tumor. The imaging studies on admission showed 12 cm
anterior- middle mediastinal mass with multiple metastases in the lung, pleura, mediastinal lymph nodes and spine.
An ultrasound-guided percutaneous needle biopsy of a cervical extension of the mass permitted histopathology and
immuno histochemical analysis which supported the diagnosis of monophasic spindle cell synovial sarcoma. The
patient was treated by chemo-therapy without response.
Conclusion: A wide range of neoplasms both primary and metastatic occurs in the mediastinum which poses
considerable diagnostic difficulties. A synovial sarcoma should be considered in the differential diagnosis. Imaging
can guide percutaneous needle biopsy of the tumor and evaluate its stage. Immunohistochemistry can be very
helpful for an accurate diagnosis

Sjogren’s syndrome is primarily a chronic systemic autoimmune disease that involves many systems. However,
Sjogren’s syndrome involving the central nervous system lesions, particularly in the central nervous system
symptoms as the first performers is uncommon. In this report, we present a 33-year-old woman having PSs with
CNS involvement, whose first symptoms presented progressive weakness on the left leg, 2 years later the left upper
limb appeared the same symptoms, being diagnosed with Sjogren’s syndrome. To give methylprednisolone pulse
therapy, combined with cyclophosphamide and anetholtrithione treatment, her condition improved. After six months’
following-up, no recurrence.

Post-Transfusion Purpura (PTP) is a rare, yet potentially fatal bleeding disorder characterized by severe
thrombocytopenia, purpura and hemorrhage that occurs after transfusion of blood product. It is caused by
alloimmunization against platelet antigens, anti-HPA-1a being the most frequent antibody. We report a rare case
of PTP due to an even more unusual anti-HPA-5a alloantibody after platelet transfusion and discuss the clinical
presentation, diagnosis and management of this life threatening condition

Methadone is widely used as a replacement for heroin addiction and an inexpensive treatment for chronic pain.
We report the case of a 51 year old male on high dose methadone treatment for heroin addiction who presented
with prolonged QT interval on electrocardiogram and later had a cardiac arrest with Torsades de Pointes (TdP), a
rare complication

A spinal meningocele is a saccular protrusion of the meninges through a dilated intervertebral foramen or a bony defect of the vertebral column. Intrathoracic meningocele is a rare condition. Only a few cases were related in the literature. It is usually associated with neurofibromatosis type 1. Isolated intrathoracic meningoceles without neurofibromatosis are more uncommon. We report a case of isolated paraspinal meningocele in a 54 old-year-man, for whom the diagnosis was established by computed tomography and magnetic resonance imaging features.

Etanercept (ETN) can induce remission in many patients with rheumatoid arthritis (RA); however, successful
cessation is considered difficult. We present two cases with RA treated with ETN and successfully discontinued
ETN. Before ETN cessation, we evaluated the presence of synovitis using Magnetic Resonance Imaging (MRI) and
ultrasonography (US). Neither patient showed signs of synovitis in these examinations. MRI and US may provide
useful indicators in the clinical recommendations for ETN cessation in RA

57-year-old male presented with a 4-month-history of a solitary, round,
dome-shaped asymptomatic nodule of 6 mm in diameter located in the limbal
conjunctiva of the left eye.