Journal of Medical Cases, ISSN 1923-4155 print, 1923-4163 online, Open Access
Article copyright, the authors; Journal compilation copyright, J Med Cases and Elmer Press Inc
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Case Report

Volume 8, Number 6, June 2017, pages 191-195

A Rare Case of Carney-Stratakis Syndrome in a Patient With SDHA Mutation

Figures

Figure 1.
Figure 1. Endoscopy showed a 35-mm gastric sub-mucosal hemorrhaging lesion.
Figure 2.
Figure 2. Histologic features of the gastric GIST. (a) Low magnification showing a well-circumscribed tumor localized in the gastric wall and sparing the mucosa (left upper part of the image) (hematoxylin-eosin, × 20). (b) Higher magnification showing a relatively bland proliferation of oval cells with a moderate amount of cytoplasm. Mitoses were inconspicuous. (c, d) At immunohistochemistry, neoplastic cells were diffusely positive with DOG-1 (c) and CD117/Kit.
Figure 3.
Figure 3. (a) Gastric neoplasm and a 10-mm intense (150 HU) nodule on the right adrenal gland at contrast CT scan of abdomen. (b) Intense uptake of the radiotracer at the level of gastric neoplasm and right adrenal gland at 18FDG-PET.
Figure 4.
Figure 4. Histologic features of the adrenal pheochromocytoma, consisting in mildly atypical epithelioid cells disposed in well vascularized nests.
Figure 5.
Figure 5. Missense mutation of SDHA with A/T variant and a single amino acid substitution (tyrosine/phenylalanine) at position 629.

Table

Table 1. Preoperative Laboratory Findings
 
ParameterValueNormal range
Serum
  Creatinine0.890.6 - 1.2
  Sodium, mEq/L141132.0 - 146.0
  Potassium, mEq/L3.93.5 - 5.5
  Chloride, mEq/L10699.0 - 109.0
  Glucose, mg/dL10570 - 100
  Hemoglobin, g/dL8.713.5 - 17.5
  Ferritin, ng/mL1421 - 274
  Chromogranine A, ng/mL12620.0 - 100.0
  Renin, ng/dL4.80.2 - 2.8
  Aldosterone, pg/mL9030 - 150
Urine
  Metanephrine, g/24 h120.564.0 - 302.0
  Normetanephrine, g/24 h335.5162.0 - 528.0
  Cortisol, g/24 h9701/10/85