BACKGROUND Tuberous Sclerosis Complex (TSC) is an autosomal-dominant hereditary disorder. This syndrome is characterized by tumor-like malformations in several organs, as well as the heart. This report summarizes a case of TSC in a premature infant, born at 34 weeks' gestation with ascites. After birth, multiple cardiac mass, subependymal cysts and hypopigmented macules were detected. To our kn...

Intraventricular hemorrhage with congenital cytomegalovirus (CMV) infection is rare and has been reported only in extremely premature infants or in association with thrombocytopenia. We report the first case of a full-term male infant with congenital CMV infection and intraventricular hemorrhage with a normal platelet count and coagulation profile. The infant also had a left subependymal cyst a...

Proteus syndrome is a complex hamartomatous disorder characterized by multiple, diverse, somatic manifestations. We present a case in which severe, evolving CNS abnormalities were also exhibited. Imaging findings at presentation included hemimegalencephaly, subependymal calcified nodules, and periventricular cysts. Subsequently, dural sinus thrombosis developed. Eight previously reported patien...

Cystic lesions were found in the telencephalic germinal layer of 12 newborn babies. According to their location, the cysts could be divided into three groups: anterior, middle or thalamostriate, and posterior. The histological appearance of all cysts was essentially the same, but in three cases the germinal layer had a peculiar alveolar type of microcystic degeneration. A constant feature was t...

Pyridoxine dependent epilepsy (PDE) is caused by mutations in the ALDH7A1 gene encoding α-aminoadipic semialdehyde dehydrogenase. The classic clinical presentation is neonatal seizures responsive only to pyridoxine therapy. White matter abnormalities, corpus callosum agenesis or hypoplasia, megacisterna magna, cortical dysplasia, neuronal heterotopias, intracerebral hemorrhage, and hydrocephalu...

Eight patients with neurocysticercosis were studied with CT and magnetic resonance (MR) imaging. Two cysts were shown better with MR than with CT. A conspicuous, high-intensity mural nodule containing the scolex allowed specific identification of intraventricular and parenchymal cysticerci. CT evidence of calcification and metrizamide enhancement in the nodule was also noted in one case. Racemo...

OBJECTIVES Minor cranial ultrasound abnormalities, such as mild ventricular enlargement, choroid plexus cysts, and subependymal cysts, have been identified in 3% to 5% of the newborn population. Although clinicians generally consider these abnormalities to be insignificant for the outcome of the newborn, few convincing data have been published to support this optimism. The objectives of this st...

A subarachnoid ependymal cyst of the spinal cord is rarely reported. A 44 year old man with a cyst compressing the lower spinal cord and conus medullaris is described. Excellent functional recovery followed excision of the lesion. The cells lining the cyst were histologically indistinguishable from normal ependymal cells, but, unlike the normal ependymal cells which are related to subependymal ...

Rhizomelic Chondrodysplasia Punctata Type I is one of the rare peroxisome disorders. We report the case of a newborn white male that developed seizures and skeletal dysmorphism. The baby had short humerus bones with stippled epiphyses, consistent with the disease. He had also delay in myelinization on brain MRI with bilateral subependymal cysts over the atria and frontal horns of the lateral ve...

Aicardi syndrome is characterized by the combination , in girls, of agenesis of the corpus callosum, epilepsy, and typical choroidal lacunae. Other associated brain abnormalities that have been described include gross asymmetry of the cerebral hemispheres, irregular ventricu lar contours caused by subependymal heterotopic nodules, cysts in the hemispheres and the posterior fossa, cerebellar hyp...