Imaging studies and EEG in childhood degenerations.
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Biomedical subjects
Publications and source records attributed to P Curatolo.
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Demonstration by computed tomography of a central linear or stellate low-attenuation region within a focal liver mass has been reported to be suggestive of focal nodular hyperplasia in appropriate clinical settings. We present a case of a focal liver mass with typical central scarring in which the ultimate diagnosis was fibrolamellar hepatocellular carcinoma.
Fifty-eight cases of West syndrome (eight idiopathic, 50 secondary) have been followed-up for a mean period of 5 years 5 months. The relationship has been studied between intellectual status at the final follow-up and the following variables: etiology, age of onset, neurological examination and developmental assessment at the onset, CT scan findings, short-term effect of ACTH treatment, and age of acquiring four developmental milestones (sitting unsupported, walking unsupported, uttering the first specific word and using a sentence of two words). Developmental and/or neurological abnormalities before the onset of the spasms, symptomatic etiology and abnormal CT findings are associated with a low IQ at the final follow-up. The age for sitting unsupported and for walking unsupported has proved to be not predictive of intellectual outcome, but the speech development data have shown a highly significant relationship with intellectual development. Early identification of the children with mental retardation has turned out to be superior to prediction of normal mental outcome.
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To investigate the mutagenic effects of antiepileptic drugs (AED), 39 epileptic children treated by long-term monotherapy (10 cases with Pb, 11 with Cbz, 9 with Vpa, 8 with Pht) have been studied. The long-term administration was monitored by measurement of AED serum concentrations by gaschromatography. Metaphase chromosome observations were performed using short time culture of peripheral blood lymphocytes and 100 mitoses from each proband were analyzed. A significant increase of CA in the group of patients with Pb (0.23), Cbz (0.19), Vpa (0.25), Pht (0.18) as compared with those of nine epileptic children without treatment (0.08) has been found. Because unrepaired damage of DNA may act as a possible carcinogenic potential, the shortest possible duration of AED treatment is recommended.
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A new case of gelastic epilepsy and precocious puberty due to hypothalamic hamartoma is reported. After long-term medical treatment there was no observable neurological or endocrinological improvement and the clinical outcome was poor. The authors consider that early surgery for hamartoma should be reconsidered.
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A case is reported who had developmental delay, infantile spasms and the salient features of the CHARGE association--colobomatous micropthalmia, congenital heart-disease, mental retardation and hearing loss. This syndrome represents a distinct and clinically recognisable entity, and should be considered in patients with infantile spasms and ocular malformations.
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A complete neuro-ophthalmological examination was made of 80 children affected by infantile spasms. Ocular features were inconstant and aspecific in the idiopathic, perinatal and postnatal groups. However, infantile spasms in the prenatal symptomatic group frequently were associated with ocular findings related to an ectodermic defect, as well as with brain defects. It is suggested that ocular findings are helpful in the investigation of infantile spasms, both in detecting associated brain malformations, and as an indication of whether further examination by computerized tomography is necessary.