We are taught in school to think horses, not zebras, when we hear hoof beats. But what happens when you encounter the uncommon? Recently a 27-year-old patient presented to the sleep clinic complaining of loud snoring and possible apneic events during sleep. She informed me that she had Beckwith-Weidemann syndrome, a rare condition that I had never heard about.
Beckwith-Weidemann syndrome is an overgrowth disorder that is associated with craniofacial abnormalities. It is of unknown etiology, but is believed to involve a defect in chromosome 11. There are no preventive measures or cures for the illness. This patient had already undergone mandible advancement surgery at the age of 17. Unfortunately, it had not cured her loud snoring.
Beckwith-Weidemann syndrome was originally called EMG syndrome due to characteristic physical findings, including congenital abdominal wall defects (exomphalos), and enlarged tongue (macroglossia), bodies and limbs (gigantism). There can also be abnormalities in adrenal gland size, ear creases, macrosomia and neonatal hypoglycemia.
Only about 300 children are diagnosed with Beckwith-Weidemann syndrome annually, so identifying the illness is difficult. As my patient told me, unless you are a specialist in this disorder, you have probably never heard of it.
Children with Beckwith-Weidemann syndrome are also at increased risk for childhood cancer. They are as many as 600 times more likely to develop Wilms’ tumor, pancreatoblastoma, adrenal carcinoma, rhabdomyosarcoma and hepatoblastoma.
This makes ongoing cancer screening especially important. An abdominal ultrasound is recommended every three months through the age of 8 years. Elevated cancer risk among patients with Beckwith-Weidemann syndrome appears to normalize in adulthood.
Our patient was diagnosed with severe obstructive sleep apnea due in part to macroglossia blocking the airway. We recommended continuous positive airway pressure (CPAP), which she stated was helpful.
When you might see these symptoms in a patient, and think ‘I saw something about this in The Clinical Advisor.’ Remember, not every illness is common. Sometimes we spot a zebra.
Sharon M. O’Brien, MPAS, PA-C, works at Presbyterian Sleep Health in Charlotte, N.C. Her main interest is helping patients understand the importance of sleep hygiene and the impact of sleep on health.