We report a case of May–Hegglin anomaly (MHA) in a woman who had a successful labor and delivery under epidural anesthesia. MHA is an inherited thrombocytopenia easily misdiagnosed as idiopathic (immune) thrombocytopenic purpura (ITP). Early and appropriate diagnosis of MHA during pregnancy is essential for optimal maternal and neonatal delivery outcome. Additionally, it can avoid unnecessary diagnostic studies, such as bone marrow aspiration and biopsy, and even harmful therapies with corticosteroids, immunosuppressive agents, and splenectomy. Consequently, the most serious impacts of this disease are iatrogenic managements due to misdiagnosis. It seems that in patients with MHA, adequate clinical coagulation is far more dependent on adequate platelet function than any particular platelet count. The diagnosis of MHA may pose a challenge for clinicians managing pregnant women with thrombocytopenia.
Multiple endocrine neoplasia 2A (MEN 2A), or Sipple's syndrome is a rare inherited dominant syndrome, characterised by medullary thyroid carcinoma, adrenal pheochromocytoma and hyperparathyroidism, due to specific RET proto-oncogene mutations. The women with MEN 2A syndrome are at risk of complicated pregnancy because of unrecognised pheochromocytoma and transmission of RET mutation to the progeny. We report a case of a woman with MEN 2A diagnosed in early pregnancy. Alpha-blockade medical therapy was used effectively and time was given for fetal maturation. Uncomplicated vaginal delivery performed under epidural analgesia. Six weeks postpartum adrenalectomy, thyroidectomy and parathyroidectomy were performed uneventfully.
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