क्लिनिकल और मेडिकल केस रिपोर्ट

Leptomeningeal carcinomatosis is an exceedingly rare complication of prostate cancer. However, its incidence may increase as prostate cancer patients survive longer with new therapies even after castration resistance. The clinical presentation is varied and nonspecific. The diagnosis of leptomeningeal metastatic disease is made either by identifying malignant cells in cerebrospinal fluid or by gadolinium-enhanced MRI. Several treatments, including radiation therapy, intrathecal chemotherapy, steroids, debulking surgery, and best supportive care have been suggested. Although, the prognosis is extremely poor not exceeding weeks. We report a case of leptomeningeal carcinomatosis in a 64-year-old patient with metastatic castration-resistant prostate cancer with a review of the literature.

An isolated glucocorticoid deficiency with preserved mineralocorticoids is the main characteristic of familial glucocorticoid type 1. We report an unusual presentation of FGD1 in a 40-days-old female infant with shock and mineralocorticoid deficiency. Her parents noted that she started to have generalized hyperpigmentation of the skin and poor feeding, then they presented her to the hospital with severe hypoglycemia, convulsions and shock. Further laboratory investigations showed hyponatremia with hyperkalemia, very high ACTH, and very low cortisol levels during stress. A diagnosis of FGD1 was established by genetic analysis; Whole Exome Sequencing "WES", which, confirmed the diagnosis and showed a pathogenic variant consistent with MC2R, NM_000529.2:c.760T> G (p.Tyr254Asp). To our knowledge, this variant has not previously been reported in association with MC2R-related conditions; and it may have adversely affected the protein structure and/or function and is potentially responsible for the adrenal crisis in this FGD patient. Once the hydrocortisone replacement therapy was started, the patient's dark skin returned to normal color as her parents, and her symptoms significantly improved. We conclude that early recognition of the symptoms and sings of FGD and confirmation by paired investigation of serum cortisol and ACTH levels as well as genetic analysis is essential to establish the diagnosis and start early treatment with hydrocortisone to prevent its-related morbidity and mortality.

SARS-COV 2 infection is usually associated with platelet count alterations. In most cases, platelet dysregulation manifests with mild to severe thrombocytopenia. We report the cases of two patients, blood related, who were hospitalized in our department due to SARS-COV2 infection accompanied by mild to severe thrombocytosis. Thrombocytosis is a rare manifestation in COVID-19 patients. Follow-up tests demonstrated a quick return of platelets within normal range, making the diagnosis of secondary thrombocytosis due to SARS-COV 2 infection the most likely diagnosis. Moreover, the blood relation between the two patients creates a suspicion that excessive platelet reaction could be due to genetic predisposition.