The intracranial pressure can be elevated if cysts develop in the brain. Migraine-like headaches can occur. Eyes
Smaller blood vessels of the retina are abnormally developed and appear tortuous and dilated to a variable extent, typically in one sector and mainly in the peripheral and temporal portions of the retina. This is known as telangiectasia. The vessel walls are weak and leak blood plasma and lipid within and underneath the retina. This leakage can lead to exudative retinal detachment, also known as exudative retinopathy in this context. The detachment typically has a yellowish tint because the fluid under the retina contains lipid. These findings mimic Coats disease. Characteristically, the abnormal vessels are localized and the retinal blood vessels peripheral to the abnormal ones seemingly have failed to develop and are thus not seen. In some eyes, retinal vessels form small nodules on the surface of the retina, known as angiomas. These can bleed and be attached to the vitreous humour. The attachment can cause traction retinal detachment. Gastrointestinal tract
Recurrent intestinal bleeding is fairly common. It originates from telangiectatic small blood vessels in the intestinal mucosa. Additional findings in some individuals are portal hypertension and liver failure. Blood
Many affected children develop anemia, which may be macrocytic in type. Some also develop thrombocytopenia. Bone marrow examinations may show megaloblasts and increased erythropoiesis or bone marrow suppression. Bones
The long bones show osteopenia and pathologic fractures can occur. Skin, nails and hair
Some children have sparse and greying hair, café au lait spots and nail dystrophy.
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.