Velo-cardio-facial syndrome and hypopituitarism (growth hormone deficiency). 22q11 deletion syndrome. Brain MRI without contrast:Craniofacial ratio suggests microcephaly. Otherwise, the brain shows no acute infarct or hemorrhage and the myelination is appropriate for age. The ventricles and other CSF-containing spaces are normal in size. There is no mass-effect or midline shift. The major intracranial vascular flow voids are preserved.The adenoids are enlarged, as well as the palatine tonsils. In addition, there are prominent lymph nodes in the upper neck, including the retropharyngeal region. These are probably reactive. There is no gross orbital abnormality. There is mild mucosal thickening in the paranasal sinuses, which is nonspecific.Pituitary MRI without and with contrast:The pituitary bright spot is preserved. The pituitary gland has a maximum height of 4 mm and a concave superior border, which is slightly, focally more concave to the left of the pituitary infundibulum insertion. While this may represent a normal variation, mild extrinsic compression by a small arachnoid cyst can also give a similar appearance. The pituitary tissue is homogenous without focal lesion. The pituitary infundibulum is of normal thickness and midline. The cavernous sinuses are unremarkable as well as the Meckel's caves. The optic canal is normal.
1.Normal brain MRI apart from suggestion of small head size, which is better assessed clinically.2.The pituitary gland shows subtle focal asymmetric concavity to its superior border, to the left of the infundibulum, which may reflect a normal variation but could possibly reflect extrinsic compression by a small arachnoid cyst. The pituitary gland is otherwise unremarkable in signal characteristics, pattern of contrast enhancement as well as overall volume.