A 14-year-old girl with a complex Cantu-like syndrome (microcephaly, dwarfism, keratosis follicularis) had gross, pitting, peripheral oedema for nearly 2 years.
She was under review by several different paediatric specialists for a number of problems. Her past medical history included resolved hypertrophic cardiomyopathy, asthma, a previous Sinding–Larsen syndrome, hypertrichosis (also now resolved), hirsuites with facial acne and a previous episode of airway obstruction with vocal-cord paresis.
During pregnancy, the patient's mother, 34 years old at the time, had developed polyhydramnios. A diagnosis of Beckwith–Wiedemann syndrome was made antenatally.3
At term, an emergency lower-segment caesarean section was performed due to fetal distress. The baby required resuscitation with bag and mask ventilation at delivery but responded well, with Apgar scores assessed as 5 at 1 min and 8 at 5 min. She was admitted to the special care baby unit directly from the delivery suite where it was noted that she had low-set ears and was macrosomic. The earlier diagnosis of Beckwith–Wiedemann syndrome was questioned because she did not have the characteristic appearance. She has since gone on to develop a number of other clinical signs through childhood and adolescence that would also suggest an alternative syndrome. She had been reviewed by several geneticists at three specialist centres; however, a unifying diagnosis has not been established.
At around 12 or 13 years of age she began to develop pains in her right hip and knee. A diagnosis of juvenile arthritis was considered but ruled out. She had started gaining weight through eating more, and her body mass index rose to 22. Eventually, she was diagnosed with Sinding–Larsen syndrome. This resolved with conservative management.
Hypertrophic cardiomyopathy had been diagnosed using echocardiography during childhood. This had never been clinically manifest, and she continued to be cardiovascularly normal on frequent tertiary review.
She had mild asthma – not severe enough, however, to require hospital admission – and acne.
The only medications taken by the patient were seretide, occasional salbutamol, frusemide and minocycline.
At about the age of 13, she started to develop pitting oedema in both legs.