PMC7225262_01
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. (D-I) Magnetic Resonance Imaging. (D-F) 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 finding, T1w imaging was not performed. (G-I) 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.
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F1
A 31 year-old gravida 5 para 1 (II:2, Figure 1A) was referred to our department at 26 weeks of gestation with ACTH-independent hypercortisolism and suspected lumbar disc prolapse. Lentigines were present on her skin, including the areas of lip red, oral mucosa, eyelids, conjunctiva, and eyelid margins (Figures 1 B,C). 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 Figure 1A; I:2. The MRI demonstrated a small mass originating from the right spinal nerve root L4, most likely corresponding to a psammomatous melanotic schwannoma, a typical finding with CNC (Figures 1D-F). No tumor was present within the adrenal glands, nor did the adrenal glands meet the criteria of primary pigmented nodular adrenal disease (PPNAD, Figures 1G-I).
Course of laboratory parameters and blood pressure. (A) Course of serum and urinary free cortisol as well as serum ACTH concentrations. Shaded areas represent the respective normal ranges. The beginning and end of Metyrapone administration is marked with arrowsheads. (B) Course of blood pressure profile. GA, gestational age; pp, post partum.
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F2
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 Figure 1A; I:2. Urinary free cortisol (UFC) concentrations rapidly normalized, see Figure 2A, and blood pressure remained within normal range on methyldopa 500 mg qid, see Figure 2B.