Small mass originating from the right spinal nerve root L4 (arrow) with inhomogeneous signal in T2w, most likely being a psammomatous melanotic schwannoma. 5 weeks’ pregnancy prolongation could be achieved. Elective repeat cesarean section was performed at 31 weeks of gestation for recurrent vaginal bleeding. The neonate developed transient hyponatremia necessitating hydrocortisone substitution for 2 weeks. Conclusion: In our case, treatment of CNC-associated hypercortisolism in pregnancy with metyrapone was effective. Maternal side effects did not occur. The newborn presented with transient hypocortisolism most likely due to transplacental drug effect. Our case illustrates that the treatment of rare diseases in pregnancy represents a challenge requiring interdisciplinary team work. are found in 70% of patients diagnosed with CNC (4). A second gene locus has been mapped on chromosome 2p16 with the causative gene awaiting identification (5). A detailed list of diagnostic criteria and clinical manifestations of CNC has been reviewed elsewhere (4, 6C9). Here, we report the course of pregnancy, delivery and puerperium in a woman and her newborn with confirmed maternal CNC, which was characterized by adrenocorticotropin (ACTH)-impartial hypercortisolism, hypertension and osteoporosis-related fractures in the mother and transient hyponatremia in the newborn. Case Report A (24S)-24,25-Dihydroxyvitamin D3 31 year-old gravida 5 para 1 (II:2, Physique 1A) was referred to our department at 26 weeks of gestation with ACTH-independent hypercortisolism and suspected lumbar disc prolapse. She initially had presented at the referring hospital with severe headache and nausea. Mouse monoclonal to CD14.4AW4 reacts with CD14, a 53-55 kDa molecule. CD14 is a human high affinity cell-surface receptor for complexes of lipopolysaccharide (LPS-endotoxin) and serum LPS-binding protein (LPB). CD14 antigen has a strong presence on the surface of monocytes/macrophages, is weakly expressed on granulocytes, but not expressed by myeloid progenitor cells. CD14 functions as a receptor for endotoxin; when the monocytes become activated they release cytokines such as TNF, and up-regulate cell surface molecules including adhesion molecules.This clone is cross reactive with non-human primate Preeclampsia had been ruled out. Further investigations had revealed elevated cortisol levels in both, serum and 24-h urinary collection. Serum ACTH levels were suppressed. A 24-h blood pressure profile had revealed hypertension. At the time of admission to our department, the patient reported severe movement-dependent pain in her left leg, a weight gain of 6 kilograms within the preceding 2 weeks (body mass index at the time of admission: 35.3 kg/m2), generalized edema, progressive muscular weakness, and visual deterioration. Physical examination revealed typical features of Cushing syndrome such as central obesity, cutis laxa, and striae distensae. Lentigines were present on her skin, including the areas of lip red, oral mucosa, eyelids, conjunctiva, and eyelid margins (Figures 1 B,C). Neurological findings were noncontributory. According to the antenatal records, blood pressure and weight gain had been within normal range during the first half of pregnancy. The patient and other family members had been diagnosed with Carney complex (CNC) after the patient’s mother had undergone cardiac surgery for myocardial myxoma, see pedigree in Physique 1A; I:2. Molecular genetic diagnosis had revealed a large deletion within the gene in all affected family members. Annual assessments recommended for CNC, (24S)-24,25-Dihydroxyvitamin D3 including endocrine and cardiac investigations, had been taken up irregularly by our patient (8, 10), a pre-pregnancy hormonal status was therefore not available. Her obstetric history included one first-trimester miscarriage followed by one preterm delivery [elective cesarean section (CS) at 32 weeks (24S)-24,25-Dihydroxyvitamin D3 of gestation for preeclampsia, with contamination of the surgical site requiring operative revision]. (24S)-24,25-Dihydroxyvitamin D3 Thereafter two first-trimester miscarriages occurred including one case of partial mole. CNC diagnosis had been established after the delivery. Open in a separate window Physique 1 Pedigree, clinical appearance, and findings in magnetic resonance imaging. (A) Pedigree of the family with six affected individuals over three generations. Affected family members are shown in black; circles and squares denote females and males, respectively. The index patient is marked with an arrow (II:2). (B,C) Clinical appearance of II:2 with CNC-typical lentigines in the areas of (B) lip red, oral mucosa, (C) eyelids, conjunctiva, and eyelid margins. (DCI) Magnetic Resonance Imaging. (DCF) Sagittal T2 TSE of the lumbar spine (D), axial T2 TSE (E) and post partum contrast enhanced CT (F) at the level of the intervertebral foramina L4. Small mass originating from the right spinal nerve root L4 (arrow) with inhomogeneous signal in T2w, most likely being a psammomatous melanotic schwannoma. As this was an incidental obtaining, T1w imaging was not performed. (GCI) Axial T2 TSE. (G), axial chemical shift imaging with in phase (H) and opposed phase (I) at the level of the adrenal glands. Normal-sized adrenals without any masses (arrows). Besides, further criteria of PPNAD, such as hypointense (i.e., pigmented) foci in T1w and T2w and/or signal dropout in opposed phase, are not fulfilled. Diagnostic workup in our department included laboratory assessments, transthoracic echocardiography (TTE), ophthalmologic examination, and magnetic resonance imaging (24S)-24,25-Dihydroxyvitamin D3 (MRI). ACTH-independent hypercortisolism was confirmed. The serum potassium level was slightly reduced, and blood glucose concentrations and homeostasis model assessment (HOMA) index were indicative of gestational diabetes..