MD2 Week 17 Case Studies PDF

**Case 1:** A 35-year-old woman at 20 weeks gestation comes in for an anatomy scan. The ultrasound reveals mild ventriculomegaly and a lemon-shaped skull. - a) What condition could these findings suggest? - b) What further imaging or diagnostic test would be appropriate? - c) What counseling s...

**Case 1:** A 35-year-old woman at 20 weeks gestation comes in for an anatomy scan. The ultrasound reveals mild ventriculomegaly and a lemon-shaped skull. - a) What condition could these findings suggest? - b) What further imaging or diagnostic test would be appropriate? - c) What counseling should be provided to the patient regarding this condition? - **Answers:** - a) These findings could suggest spina bifida. - b) A detailed fetal MRI can provide further information on the extent of the neural tube defect. - c) Counseling should include discussion on the prognosis, potential surgical interventions, and long-term outcomes. - **Explanation:** Early detection and thorough counseling are critical for parents to understand potential implications and treatment options. **Case 2:** A 30-year-old pregnant woman at 34 weeks gestation is diagnosed with polyhydramnios during a routine ultrasound. - a) What are common causes of polyhydramnios? - b) What complications could arise for the mother and fetus due to polyhydramnios? - c) What management strategies should be considered? - **Answers:** - a) Causes include fetal anomalies, gestational diabetes, and multiple pregnancies. - b) Risks include preterm labor, placental abruption, and umbilical cord prolapse. - c) Management may involve amnioreduction or careful monitoring to manage symptoms and complications. - **Explanation:** Identifying the underlying cause and managing potential complications are crucial for maternal and fetal health. **Case 3:** A 28-year-old woman, G2P1, presents at 36 weeks with complaints of decreased fetal movement and an ultrasound showing oligohydramnios. - a) What potential causes should be considered for oligohydramnios? - b) How could oligohydramnios affect labor and delivery? - c) What interventions should be recommended? - **Answers:** - a) Causes include placental insufficiency, premature rupture of membranes (PROM), and fetal renal anomalies. - b) Oligohydramnios can lead to complications such as umbilical cord compression and a higher likelihood of cesarean delivery. - c) Recommendations may include increased maternal hydration, monitoring, and induction of labor if the condition is severe. - **Explanation:** Prompt recognition and management of oligohydramnios help prevent adverse outcomes for both mother and baby. **Case 4:** A 24-year-old G1P0 at 18 weeks gestation undergoes a prenatal screening, revealing an increased nuchal translucency measurement. - a) What chromosomal abnormalities could this indicate? - b) What follow-up tests are advised to confirm the diagnosis? - c) How should the patient be counseled about these findings?  - **Answers:** - a) Increased nuchal translucency can indicate trisomy 21, trisomy 18, or Turner syndrome. - b) Follow-up tests include chorionic villus sampling (CVS) or amniocentesis. - c) Counseling should provide information on potential outcomes, further diagnostic procedures, and support options. - **Explanation:** Early screening and follow-up testing are essential for confirming chromosomal abnormalities and informing parents. **Case 5:** A 40-year-old woman, G3P2, with gestational diabetes presents for routine growth monitoring. Ultrasound reveals a large-for-gestational-age fetus. - a) What complications are associated with fetal macrosomia? - b) How should labor be managed in a patient with suspected macrosomia? - c) What long-term risks should be discussed for the infant? - **Answers:** - a) Complications include shoulder dystocia, cesarean delivery, and postpartum hemorrhage. - b) Options include planned cesarean delivery or careful monitoring during labor to minimize shoulder dystocia risk. - c) Long-term risks for the infant include a higher likelihood of obesity and type 2 diabetes. - **Explanation:** Proper management strategies are needed to address both immediate and future health risks for mother and child. **Case 6:** A 33-year-old woman in her second trimester is concerned about congenital infections after being exposed to a co-worker with CMV. - a) What is the risk of congenital CMV infection, and what are the potential outcomes? - b) What initial diagnostic tests can be performed to assess the risk to the fetus? - c) What management options are available if congenital CMV infection is confirmed? - **Answers:** - a) Congenital CMV can lead to hearing loss, neurodevelopmental delays, and microcephaly. - b) Maternal serology for CMV IgM and IgG, followed by amniocentesis for PCR testing if needed. - c) Management may include antiviral therapy for the mother and postnatal monitoring and interventions for the infant. - **Explanation:** Understanding the potential impact and early diagnostic steps is vital for managing the risk of congenital infections. **Case 7:** A 25-year-old woman, G1P0, presents at 12 weeks gestation for prenatal screening and reports a family history of spina bifida. - a) What prenatal screening options are available to detect neural tube defects? - b) How does folic acid supplementation affect the risk of neural tube defects? - c) What additional precautions should be taken if there is a strong family history of neural tube defects? - **Answers:** - a) Screening options include maternal serum alpha-fetoprotein (AFP) and detailed ultrasound at 18-20 weeks. - b) Folic acid supplementation significantly reduces the risk of neural tube defects when taken preconception and during early pregnancy. - c) Higher doses of folic acid and genetic counseling should be considered. - **Explanation:** Preventive measures and early detection play a crucial role in reducing the incidence and managing the risk of neural tube defects. **Case 8:** A 29-year-old woman, G2P1, is found to have asymmetrical fetal growth restriction (FGR) at 28 weeks. - a) What are the potential maternal and fetal causes of asymmetrical FGR? - b) How is asymmetrical FGR managed in the third trimester? - c) What is the long-term impact on the child if born with asymmetrical FGR? - **Answers:** - a) Causes include placental insufficiency, maternal hypertension, and smoking. - b) Management involves close monitoring with Doppler ultrasound and possible early delivery if fetal distress is noted. - c) Long-term impacts may include growth and developmental delays and an increased risk of metabolic disorders. - **Explanation:** Comprehensive monitoring and management strategies are essential to minimize risks and support the best outcomes for FGR cases. **Case 9:** A 32-year-old G3P2 presents with concerns about reduced fetal movements at 36 weeks. An ultrasound reveals oligohydramnios. - a) What potential maternal and fetal conditions could cause oligohydramnios? - b) How should this patient be monitored moving forward? - c) What interventions may be necessary if oligohydramnios persists? - **Answers:** - a) Causes include placental insufficiency, PROM, and fetal renal issues. - b) Close monitoring with non-stress tests and serial ultrasounds. - c) Early induction of labor may be necessary to prevent complications. - **Explanation:** Oligohydramnios requires careful monitoring and timely intervention to ensure safe outcomes for both the mother and fetus. **Case 10:** A 27-year-old woman, G1P0, at 22 weeks gestation reports a history of a previous sibling with Down syndrome. - a) What prenatal tests are available for diagnosing Down syndrome? - b) How does maternal age influence the risk of trisomy 21? - c) What are the potential challenges in counseling this patient? - **Answers:** - a) Non-invasive prenatal testing (NIPT) and confirmatory diagnostic tests such as amniocentesis. - b) The risk of trisomy 21 increases with maternal age. - c) Counseling challenges include discussing the risk of recurrence, potential outcomes, and options if a positive diagnosis is confirmed. - **Explanation:** Providing comprehensive counseling and discussing the implications of screening and diagnostic results is crucial for informed decision-making. **Case 1:** A 34-year-old woman presents with irregular vaginal bleeding and pelvic pain. An ultrasound reveals a thickened endometrial stripe with heterogeneous echotexture. - a) What is a potential differential diagnosis based on these findings? - b) What histological feature would confirm a diagnosis of endometrial carcinoma? - c) What additional imaging or diagnostic tests would be appropriate for staging? - **Answers:** - a) Endometrial hyperplasia or endometrial carcinoma. - b) Invasion of malignant cells beyond the endometrial lining into the myometrium. - c) Pelvic MRI and endometrial biopsy.  - **Explanation:** These findings guide the diagnostic and staging process, ensuring accurate assessment and treatment planning. **Case 2:** A 45-year-old woman with a known history of breast cancer presents with new onset bone pain and elevated serum calcium. - a) What is a likely cause of her symptoms? - b) Which imaging modality is best suited to evaluate for metastatic disease? - c) What blood test could further support the suspicion of metastatic breast cancer? - **Answers:** - a) Bone metastases from breast cancer. - b) Bone scan or PET-CT. - c) Elevated serum alkaline phosphatase. - **Explanation:** Bone metastases from breast cancer often cause bone pain and hypercalcemia due to osteolytic activity. **Case 3:** A 26-year-old woman presents with a left adnexal mass and a serum AFP level of 300 ng/mL. - a) What is the most likely diagnosis? - b) What histological findings would support this diagnosis? - c) What is the typical treatment approach for this condition? - **Answers:** - a) Yolk sac tumor. - b) Schiller-Duval bodies. - c) Surgical excision followed by chemotherapy. - **Explanation:** Elevated AFP levels and specific histological findings help confirm the diagnosis of a yolk sac tumor, a rare but aggressive germ cell tumor. **Case 4:** A 60-year-old male reports progressive urinary hesitancy and nocturia. Digital rectal examination (DRE) reveals a firm, irregular prostate. - a) What is the most likely diagnosis? - b) What diagnostic test should be performed next? - c) What histopathological findings would confirm the diagnosis? - **Answers:** - a) Prostate cancer. - b) PSA testing and prostate biopsy. - c) Glandular structures with prominent nucleoli and possible perineural invasion. - **Explanation:** The combination of clinical findings and diagnostic tests helps in the early detection and diagnosis of prostate cancer. **Case 5:** A 39-year-old woman presents with bloody nipple discharge from her left breast. A mammogram shows microcalcifications. - a) What is a potential diagnosis based on her presentation? - b) What biopsy technique is appropriate for confirming the diagnosis? - c) What histological features would indicate ductal carcinoma in situ (DCIS)? - **Answers:** - a) Ductal carcinoma in situ (DCIS). - b) Core needle biopsy. - c) Malignant cells within ducts without invasion of the basement membrane.  - **Explanation:** DCIS can present with bloody nipple discharge and mammographic calcifications, emphasizing the importance of biopsy for diagnosis. **Case 6:** A 50-year-old postmenopausal woman reports severe itching and discomfort in the vulva. Examination reveals white, atrophic plaques. - a) What is the likely diagnosis? - b) What histological changes would confirm the diagnosis? - c) What is the risk associated with this condition if left untreated? - **Answers:** - a) Lichen sclerosus. - b) Thinned epithelium with a loss of rete ridges and a homogenous band of sclerosis. - c) Increased risk of squamous cell carcinoma. - **Explanation:** Lichen sclerosus requires close monitoring due to its potential to progress to malignancy if untreated. **Case 7:** A 32-year-old woman presents with a palpable right breast mass. An ultrasound shows a well-defined, hypoechoic lesion. - a) What is the most likely diagnosis? - b) What clinical feature supports the diagnosis? - c) What management approach is recommended? - **Answers:** - a) Fibroadenoma. - b) A mobile, non-tender, well-defined mass. - c) Observation or excisional biopsy if symptomatic or enlarging. - **Explanation:** Fibroadenomas are common benign breast lesions that can be managed conservatively unless symptomatic. **Case 8:** A 47-year-old woman with a history of abnormal Pap smears presents for follow-up. Colposcopy reveals areas of acetowhite epithelium. - a) What is the likely diagnosis? - b) What biopsy findings would confirm the diagnosis of CIN III? - c) What treatment options are available for CIN III? - **Answers:** - a) Cervical intraepithelial neoplasia (CIN III). - b) Full-thickness squamous dysplasia without stromal invasion. - c) LEEP, cryotherapy, or cone biopsy. - **Explanation:** CIN III requires definitive treatment to prevent progression to invasive carcinoma. **Case 9:** A 36-year-old pregnant woman presents at 20 weeks with new onset of hypertension and proteinuria. - a) What is the likely diagnosis? - b) What complications could arise if this condition progresses? - c) What management strategies should be considered? - **Answers:** - a) Preeclampsia. - b) Complications include eclampsia, HELLP syndrome, and fetal growth restriction. - c) Close monitoring, antihypertensives, and possible early delivery if severe. - **Explanation:** Preeclampsia can significantly affect both maternal and fetal outcomes, necessitating close management. **Case 10:** A 22-year-old male presents with a painless testicular mass. An ultrasound shows a solid, hypoechoic lesion. - a) What is the most likely diagnosis? - b) What serum markers should be evaluated? - c) What is the standard initial treatment for this condition? - **Answers:** - a) Seminoma. - b) Serum β-hCG, AFP, and LDH. - c) Radical inguinal orchiectomy. - **Explanation:** Seminomas are common in young males and require surgical removal, with further management guided by staging and tumor markers. **Case 13:** A 55-year-old woman presents with postmenopausal bleeding. An endometrial biopsy reveals atypical hyperplasia. - a) What is the next best step in management? - b) What is the risk of progression to endometrial carcinoma if untreated? - c) What are treatment options if she wishes to preserve fertility? - **Answers:** - a) Total hysterectomy is recommended for definitive management. - b) Atypical hyperplasia has a significant risk (up to 30%) of progressing to endometrial carcinoma. - c) High-dose progestin therapy and close monitoring may be considered. - **Explanation:** Postmenopausal bleeding with atypical hyperplasia requires careful assessment, as it is a precursor to endometrial cancer. **Case 14:** A 50-year-old man presents with difficulty urinating, weak stream, and increased frequency. PSA levels are slightly elevated. - a) What are potential differential diagnoses? - b) What further diagnostic evaluation should be performed? - c) How is benign prostatic hyperplasia (BPH) distinguished from prostate cancer? - **Answers:** - a) Benign prostatic hyperplasia (BPH) and prostate cancer. - b) Digital rectal examination (DRE) and prostate biopsy if warranted. - c) BPH typically affects the transitional zone, while prostate cancer usually arises in the peripheral zone. - **Explanation:** Differentiating between BPH and prostate cancer is crucial, as both can present with similar urinary symptoms. **Case 15:** A 30-year-old woman with irregular menstrual cycles presents with infertility. Transvaginal ultrasound reveals multiple small ovarian cysts. - a) What is the likely diagnosis? - b) What hormonal findings are expected in this condition? - c) What treatment options can be considered to improve fertility? - **Answers:** - a) Polycystic ovary syndrome (PCOS). - b) Elevated LH:FSH ratio and hyperandrogenism. - c) Lifestyle modifications, clomiphene citrate, and metformin.  - **Explanation:** PCOS is a common cause of infertility due to anovulation and can be managed with various treatment options to restore ovulatory cycles. **Case 16:** A 42-year-old woman presents with a persistent, non-healing ulcerated lesion on the vulva. Biopsy confirms squamous cell carcinoma. - a) What are common risk factors for vulvar squamous cell carcinoma? - b) What is the typical treatment approach for early-stage vulvar cancer? - c) What is the prognosis for localized vulvar squamous cell carcinoma? - **Answers:** - a) HPV infection, lichen sclerosus, and smoking. - b) Wide local excision or vulvectomy with possible lymph node dissection. - c) Good prognosis with early detection and treatment. - **Explanation:** Early identification and surgical treatment are key for effective management and a favorable outcome. **Case 17:** A 60-year-old woman with a history of breast cancer presents with new-onset jaundice and hepatomegaly. - a) What is a likely cause of her current symptoms? - b) What imaging studies would be appropriate for evaluating her condition? - c) What tumor marker can help support the diagnosis of metastatic breast cancer? - **Answers:** - a) Liver metastasis from breast cancer. - b) Abdominal CT or MRI. - c) Elevated CA 15-3 or CEA. - **Explanation:** Breast cancer can metastasize to the liver, and appropriate imaging helps confirm the diagnosis. **Case 18:** A 24-year-old pregnant woman at 14 weeks gestation presents with hyperemesis gravidarum and uterine size larger than expected for gestational age. β-hCG levels are markedly elevated. - a) What condition should be considered? - b) What imaging findings would support this diagnosis? - c) What is the initial treatment for this condition? - **Answers:** - a) Complete hydatidiform mole. - b) Ultrasound showing a “snowstorm” pattern with no fetal tissue. - c) Uterine evacuation via suction curettage. - **Explanation:** Complete moles are characterized by excessive trophoblastic proliferation and require prompt treatment. **Case 19:** A 33-year-old man presents with a painless scrotal mass. Ultrasound reveals a well-circumscribed hypoechoic lesion. Tumor markers are negative. - a) What is a likely diagnosis? - b) What further steps should be taken? - c) What is the prognosis of this condition? - **Answers:** - a) Seminoma. - b) Radical inguinal orchiectomy. - c) Seminomas have an excellent prognosis, especially if detected early.  - **Explanation:** Seminomas are the most common type of testicular cancer and respond well to treatment. **Case 20:** A 25-year-old woman presents with a history of abnormal Pap smears. Colposcopy shows a lesion with acetowhite changes and vascular irregularities. - a) What is the likely diagnosis? - b) What procedure should be performed to confirm the diagnosis? - c) What treatment options are available if CIN II/III is confirmed? - **Answers:** - a) Cervical intraepithelial neoplasia (CIN). - b) Colposcopic-directed biopsy. - c) Options include LEEP, cryotherapy, or cone biopsy. - **Explanation:** Early diagnosis and treatment of high-grade CIN are essential for preventing progression to invasive cervical cancer. ### 10 High-Difficulty Case Study-Style SAQs **Case 1:** A 67-year-old man presents with nocturia, decreased urinary flow, and difficulty starting urination. PSA levels are slightly elevated, and DRE reveals an enlarged, non-nodular prostate. - a) What is the likely diagnosis? - b) What initial pharmacological treatment is recommended? - c) What are potential side effects of the recommended treatment? - **Answers:** - a) Benign prostatic hyperplasia (BPH). - b) Alpha-adrenergic blockers such as tamsulosin. - c) Side effects may include dizziness, orthostatic hypotension, and ejaculatory dysfunction. - **Explanation:** BPH is common in older men and managed with medications that improve urine flow and reduce prostate size. **Case 2:** A 48-year-old woman with dense breast tissue has a screening mammogram that shows an area of concern. Further imaging with ultrasound is performed, revealing a suspicious solid mass. - a) What imaging technique could be used for further evaluation given her breast density? - b) What is the next diagnostic step if the mass appears suspicious? - c) What histological findings would confirm a diagnosis of invasive ductal carcinoma? - **Answers:** - a) Breast MRI could be used for further evaluation. - b) A core needle biopsy. - c) Glandular structures with malignant cells and invasion beyond the basement membrane. - **Explanation:** Dense breast tissue reduces mammogram sensitivity, and alternative imaging modalities can help in accurate assessment. **Case 3:** A 58-year-old man with a history of prostate cancer presents with bone pain and elevated alkaline phosphatase. Imaging shows sclerotic lesions in the spine. - a) What is the most likely cause of his symptoms? - b) What additional tests can confirm the diagnosis? - c) What treatment options are available for bone metastases? - **Answers:** - a) Bone metastases from prostate cancer.  - b) Bone scan or PET-CT; serum PSA levels. - c) Options include androgen deprivation therapy, radiotherapy, and bisphosphonates. - **Explanation:** Prostate cancer commonly metastasizes to the bone, causing osteoblastic lesions. **Case 4:** A 32-year-old woman presents with a rapidly enlarging breast mass, erythema, and skin thickening resembling peau d’orange. - a) What is the most likely diagnosis? - b) What diagnostic tests are needed to confirm this diagnosis? - c) Outline the primary treatment strategy for this condition. - **Answers:** - a) Inflammatory breast cancer (IBC). - b) Biopsy of the mass and affected skin; imaging studies like mammography or MRI. - c) Neoadjuvant chemotherapy followed by surgery and radiation. - **Explanation:** IBC presents aggressively and requires prompt, multimodal treatment. **Case 5:** A 60-year-old postmenopausal woman presents with postmenopausal bleeding. Transvaginal ultrasound reveals a thickened endometrial lining. - a) What is the next best step for diagnosis? - b) What histological feature would confirm endometrial carcinoma? - c) What are common risk factors for this condition? - **Answers:** - a) Endometrial biopsy. - b) Malignant glandular cells invading the myometrium. - c) Risk factors include obesity, unopposed estrogen use, and late menopause. - **Explanation:** Postmenopausal bleeding warrants immediate investigation to rule out endometrial carcinoma. **Case 6:** A 45-year-old man is being treated for prostate cancer with androgen deprivation therapy (ADT). He reports hot flashes and decreased bone density. - a) What are the common side effects of ADT? - b) What strategies can be used to mitigate these side effects? - c) What additional monitoring should be considered for patients on long-term ADT? - **Answers:** - a) Hot flashes, osteoporosis, and metabolic changes. - b) Bisphosphonates or denosumab for bone health, and lifestyle modifications. - c) Bone density scans (DEXA) and monitoring for cardiovascular health. - **Explanation:** Long-term ADT requires comprehensive management to mitigate side effects and preserve overall health. **Case 7:** A 29-year-old man presents with a painless testicular mass. Serum AFP is elevated, and an ultrasound shows a solid, hypoechoic lesion. - a) What is the most likely diagnosis? - b) What is the standard initial treatment? - c) How is the diagnosis confirmed post-surgery? - **Answers:** - a) Non-seminomatous germ cell tumor, possibly a yolk sac tumor. - b) Radical inguinal orchiectomy.  - c) Histopathological examination of the excised tissue. - **Explanation:** Serum markers and imaging guide the diagnosis, while surgery confirms histology. **Case 8:** A 35-year-old woman with a history of atypical ductal hyperplasia (ADH) presents for routine follow- up. She is concerned about her breast cancer risk. - a) How does ADH influence breast cancer risk? - b) What surveillance strategies should be considered for this patient? - c) What preventive options can be discussed? - **Answers:** - a) ADH increases the risk of developing breast cancer. - b) Regular mammograms and possibly MRI for high-risk monitoring. - c) Chemoprevention with SERMs or prophylactic mastectomy. - **Explanation:** ADH is a marker of increased breast cancer risk, necessitating vigilant follow-up and preventive measures. **Case 9:** A 50-year-old male presents with hematuria and a firm, irregular prostate on DRE. PSA is elevated. - a) What is the most likely diagnosis? - b) What biopsy technique is used for confirmation? - c) What are common histological findings in this condition? - **Answers:** - a) Prostate cancer. - b) Transrectal ultrasound-guided prostate biopsy. - c) Glandular structures with prominent nucleoli. - **Explanation:** Prostate cancer diagnosis relies on PSA, DRE, and confirmatory biopsy. **Case 10:** A 42-year-old woman with a strong family history of breast cancer tests positive for a BRCA1 mutation. - a) What are the implications of a BRCA1 mutation for this patient? - b) What surveillance strategies should be implemented? - c) What preventive surgical options could be considered? - **Answers:** - a) BRCA1 mutation significantly increases the risk of breast and ovarian cancer. - b) Enhanced surveillance with mammograms and MRI, and consideration of genetic counseling. - c) Prophylactic mastectomy and salpingo-oophorectomy. - **Explanation:** BRCA1 carriers require tailored surveillance and preventive strategies due to their high risk of cancer.