December, 21 1998
We have a patient who has tentatively been diagnosed with 3C syndrome,
but who displays some puzzling features which have not previously been
described. We wondered if anyone has had any similar experience.
The patient is a boy now aged 5 years. He was born at 35 weeks gestation
with the pregnancy being complicated by polyhydramnios. His birth
weight was 3300 gm. He had a large head (38.5 cm). He was hypotonic,
with bilateral clubfeet, a large cleft palate and a small omphalocele.
There was mild penile chordee and hypospadias. There is a large perimembranous
VSD with mild pulmonary hypertension. A gastrostomy was required
because of feeding difficulties.The childs head continued to grow, the
lateral ventricles were mildly increased in size. A VP shunt was
placed for suspected hydrocephalus at age 4 months. Securing and
airway during anesthetic proved to be very difficult and precarious
due to the small size of the larynx and tracheomalacia. Currently the childs
weight is above the 10th percentile with the height below the 5th percentile.
The childs head circumference has risen from +2SD to + 4SD (59.5cm) .
There is no evidence of hydrocephalus, but polymicrogyria is present.
There is also a retrocerebellar subarachnoid cyst. A recent opthalmic
examination revealed significant hyperopia and somewhat tortuous retinal
vessels. The child walks independently and has some speech delays. The
investigations are normal: chromosomes, peroxisomal function, CPK, TORCH, ISH for 1q44, 22q11.2 and 17 (Miller-Dieker) deletions, LFT, plasma lactate, urine organic acids and skeletal survey. Initially Walker-Warburg
syndrome or Fukyama CMD were suggested, but the consensus opinion is 3C syndrome. One concern at present is the increase in the growth of the childs head with signs of increased intercranial pressure, which does not appear to be a feature of 3C. Does anyone have any experience that they would like to share with us?