Diabetes mellitus in a patient with glycogen storage disease type Ia: a case report.

BACKGROUND: Glycogen storage disease type Ia is a genetic disorder that is associated with persistent fasting hypoglycemia and the inability to produce endogenous glucose. The development of diabetes with glycogen storage disease is exceedingly rare. The underlying pathogenesis for developing diabetes in these patients is unclear, and there are no guidelines for treatment. CASE PRESENTATION: We describe a case of a 34-year-old woman of South Asian descent with glycogen storage disease type Ia, who developed uncontrolled diabetes mellitus as a young adult. Hyperglycemia was noted after childbirth, and worsened years later. Treatment for diabetes was difficult due to risks of hypoglycemia from her underlying glycogen storage disease. With minimal hypoglycemic events, the patient's blood glucose improved with exercise in combination with a sodium-glucose co-transporter 2 inhibitor and an alpha glucosidase inhibitor. CONCLUSION: We report a rare case of diabetes in the setting of glycogen storage disease-Ia. Based on the literature, there appears to be a relationship between glycogen storage disease and metabolic syndrome, which likely plays a role in the pathogenesis. The management of glycemic control remains a clinical challenge, requiring management of both fasting hypoglycemia from glycogen storage disease, as well as post-prandial hyperglycemia from diabetes mellitus.

Symptomatic Cushing's syndrome and hyperandrogenemia in a steroid cell ovarian neoplasm: a case report.

BACKGROUND: Malignant steroid cell tumors of the ovary are rare and frequently associated with hormonal abnormalities. There are no guidelines on how to treat rapidly progressive Cushing's syndrome, a medical emergency. CASE PRESENTATION: A 67-year-old white woman presented to our hospital with rapidly developing signs and symptoms of Cushing's syndrome secondary to a steroid-secreting tumor. Her physical and biochemical manifestations of Cushing's syndrome progressed, and she was not amenable to undergoing conventional chemotherapy secondary to the debilitating effects of high cortisol. Her rapidly progressive Cushing's syndrome ultimately led to her death, despite aggressive medical management with spironolactone, ketoconazole, mitotane, and mifepristone. CONCLUSIONS: We report an unusual and rare case of Cushing's syndrome secondary to a malignant steroid cell tumor of the ovary. The case is highlighted to discuss the complications of rapidly progressive Cushing's syndrome, an underreported and often unrecognized endocrine emergency, and the best available evidence for treatment.

Cutaneous and subcutaneous metastases from internal malignancies: an analysis of cases diagnosed by fine needle aspiration.

Cutaneous and subcutaneous metastases from internal malignancies are rare and indicate a dismal outcome for the patient. This study is designed to analyze cases of cutaneous and subcutaneous metastases from a known or unknown primary and evaluate usefulness of fine needle aspiration cytology as a diagnostic modality. The present study is a retrospective analysis of 83 patients who were diagnosed with metastatic skin deposits on fine needle aspiration cytology. Seventy-four patients were previously diagnosed cases of malignancy and nine patients had metastatic deposits simultaneously with the primary tumor. The commonest malignancies showing cutaneous metastases were from breast, colon and rectum, lung, ovary, and thyroid. The differential diagnoses are from primary cutaneous tumors. FNAC provides a rapid diagnosis and should be used as a preferred first line diagnostic modality in such patients. In our study, FNAC yielded a sensitivity and specificity of 100% as a microscopic method for confirmation.

Primary mucinous carcinoma of urachus--a case report.

The authors describe a case of primary mucinous carcinoma of urachus in 65 years old male. Patient presented with hematuria with suprapubic mass. The patient underwent total cystectomy with en bloc excision of the tumor mass and umbilicus. Histological examination showed features of mucinous carcinoma of urachus. A clinicopathological study and brief review of literature is presented.

Cytological grading of breast neoplasia and its correlation with histological grading.

Cytological grading of breast cancer is not well established despite histological grading having gained a strong foothold. In our study we have analyzed 50 cases of breast carcinoma which included invasive ductal carcinoma, invasive lobular carcinoma, mucinous carcinoma, stromal sarcoma, apocrine carcinoma, papillary carcinoma. Papanicolaou smears were graded according to established Hunt's, Simplified Black and Modified Black grading systems. They were then compared with the Scarff Bloom Richardson grading system. Simplified Black grading system has been recommended for cytological grading of breast neoplasia because of its lucidity and its reproducibility. Cytological grading of breast neoplasia is important for neo adjuvant chemotherapy and also for predicting the prognosis of the patient on FNAC alone. Incorporation of other parameters like apoptosis and bcl-2 is also recommended.