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An illustrated case study presents a 3-year-old boy with McCune-Albright syndrome manifesting through distinctive symptoms including leg bowing, macroorchidism, and café au lait spots. The patient exhibited hypophosphatemic rickets with elevated fibroblast growth factor 23 levels, leading to a comprehensive diagnosis based on clinical presentation and laboratory findings. Treatment with oral phosphate and calcitriol showed partial improvement at six-month follow-up.
Key Points:
- Patient presented with an 18-month history of left leg bowing affecting mobility, accompanied by testicular enlargement and multiple café au lait spots on the lower back, cheek, and neck
- Laboratory findings revealed low serum phosphorous, elevated alkaline phosphatase, normal calcium and parathyroid hormone levels, and elevated fibroblast growth factor 23
- Radiographic evidence showed fibrous dysplasia in the wrist, femur, and tibia, along with rickets
- Diagnosis of McCune-Albright syndrome was confirmed through the clinical triad of café au lait spots, macroorchidism, and fibrous dysplasia
- Treatment with oral phosphate and calcitriol resulted in improved radiographic findings of rickets at 6 months, though mobility support remained necessary
Acromegaly may also be part of other genetic syndromes such as multiple endocrine neoplasia syndrome type 1 and type 4, hereditary paraganglioma-pheochromocytoma syndrome, McCune-Albright syndrome, neurofibromatosis or Carney complex. (CheckRare)
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