Imaging findings
The most consistent finding are widespread calcifications, which involve
the white matter of the cerebrum mostly adjacent to the junction with the grey matter, the thalami, the basal ganglia and the brainstem. The white matter of the cerebellum and the dentate nuclei are less often involved. However, the brain may appear normal in the neonatal period. The calcifications are visible both with computed tomography and with magnetic resonance imaging. Magnetic resonance imaging shows additionally diffuse or patchy white matter changes, especially in the periventricular region, the thalami and the internal capsule. Cerebellar and brainstem lesions are less common. Imaging also uncovers parenchymal cysts situated mainly in the thalamic region and more rarely in the brainstem, the parietal lobe and the frontal lobe. The long bones may be osteopenic and various skeletal changes are found in several patients, such as metaphyseal sclerosis and mild flaring, which is most pronounced in the femur and  tibia. Laboratory findings
The cerebrospinal fluid and blood tests are typically normal, except for anemia and thrombocytopenia in some children. Screening
Because of the rarity of the syndrome, it is not routinely screened before birth. Prenatal diagnosis is possible in families in which a prior child has been diagnosed, because the responsible gene CTC1is known. Management
Seizures are managed with anticonvulsive medications. Laser coagulation or cryoablation (freezing) of the retina can be used to destroy the abnormal blood vessels. Retinal detachment is repaired with a scleral buckle or with vitrectomy.
Orciprenaline, also known as metaproterenol, is a bronchodilator used in the treatment of asthma. Orciprenaline is a moderately selective β2 adrenergic receptor agonist that stimulates receptors of the smooth muscle in the lungs, uterus, and vasculature supplying skeletal muscle, with minimal or no effect on α adrenergic receptors. The pharmacologic effects of β adrenergic agonist drugs, such as orciprenaline, are at least in part attributable to stimulation through β adrenergic receptors of intracellular adenylyl cyclase, the enzyme which catalyzes the conversion of ATP to cAMP. Increased cAMP levels are associated with relaxation of bronchial smooth muscle and inhibition of release of mediators of immediate hypersensitivity from many cells, especially from mast cells. Possible side effects
tremor
nervousness
dizziness
weakness
headache
nausea
tachycardiaRare side effects that could be life-threateningincreased difficulty breathing
rapid or increased heart rate
irregular heartbeat
chest pain or discomfort

Brand names
Alupent
Metaprel
Orcibest


== References ==