Adult Case of Stüve-Wiedemann Syndrome.
Christina Kelly, Megan Morand, Joseph W Ray
✦ AI-curated · Sources linked
Case in brief
A 35-year-old woman with Stüve-Wiedemann syndrome was diagnosed at age 34 after clinical exome sequencing found homozygous pathogenic LIFR c.756dup (p.Lys253*) variants. Her history included feeding and respiratory difficulties in infancy, recurrent fractures, upper-extremity deep vein thrombosis, osteoporosis, and an incidental brain aneurysm. Adult features included palpitations, fatigue, restless legs, temperature dysregulation, poor dentition, and bone fragility. Examination showed short stature, blue sclera, kyphoscoliosis, restricted motion in multiple joints, and finger and toe fusions. Despite more than 25 surgeries, she had no reported anesthesia complications.
What made this case unusual
Survival into adulthood is notable in a syndrome associated with high early-life mortality; the authors describe her as the oldest reported individual with SWS.
Diagnostic / clinical pearl
In an adult with characteristic skeletal findings and a history of childhood feeding or respiratory difficulties and fractures, consider SWS and confirm with genetic testing, as diagnosis may be delayed.