Cushing's Help and Support
MaryO.co – Just another blog!
Cushing's Bios
MaryO'Medical | At the moment, knees, again
Description: It's About Time There Was Support for Cushing's
Background: Café-au-lait skin macules, Cushing syndrome (CS), hyperthyroidism, and liver and cardiac dysfunction are presenting features of neonatal McCune–Albright syndrome (MAS), CS being the rarest endocrine feature. Although spontaneous resolution of hypercortisolism has been reported, outcome is usually unfavorable. While a unified approach to diagnosis, treatment, and follow-up is lacking, herein successful treatment and long-term follow-up of a rare case is presented.
Clinical case: An 11-day-old girl born small for gestational age presented with deterioration of well-being and weight loss. Large hyperpigmented macules on the trunk, hypertension, hyponatremia, hyperglycemia, and elevated liver enzymes were noted. ACTH-independent CS due to MAS was diagnosed. Although metyrapone (300 mg/m 2 /day) was started on the 25th day, complete remission could not be achieved despite increasing the dose up to 1,850 mg/m 2 /day. At 9 months, right total and left three-quarters adren
Conclusion: Neonatal CS due to MAS is extremely rare. Although there is no specific guideline for diagnosis, treatment, or follow-up, addressing side effects and identifying treatment outcomes will improve quality of life and survival.
Cushing's Help and Support
MaryO.co – Just another blog!
Cushing's Bios
MaryO'Medical | At the moment, knees, again