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Biomedical subjects

L Ghersini

Publications and source records attributed to L Ghersini.

7 recordsLinked to original sources
PubMed1993

Clinical features of Kleine-Levin syndrome with localized encephalitis.

We report the clinico-pathological findings regarding a 9 year-old girl with some clinical features of Kleine-Levin syndrome who died suddently as a result of pulmonary embolism in the course of femoro-iliac thrombophlebitis. Neuropathological examination provided evidence of perivascular inflammatory infiltrates and microglial proliferation of nodular type located in the diencephalon and midbrain. These findings suggest that a localized encephalitis may be the underlying condition in Kleine-Levin syndrome.

Brain Mapping↗
PubMed1982

Möbius-like syndrome due to multiple cerebral abnormalities including hypoplasia of the descending tracts. A case report.

The clinicopathological findings are reported in a child with congenital oculofacial diplegia, paresis of pharyngeal and laryngeal muscles, and concomitant tetraparesis. The constellation of signs and symptoms correlates with a complex picture of maldevelopment, including absence of olfactory bulbs, hippocampal abnormalities, hypoplasia of the corpus callosum and of the cerebellum, and severe hypoplysia of the descending pathways. We stress the role played by the hypoplasia of the descending fibres, with consequent denervation of the cranial nerve nuclei, in producing the Möbius-like picture.

Abnormalities, Multiple↗
PubMed1981

Preferential maternal derivation in inv dup(15): analysis of eight new cases.

Eight patients are reported with a de novo extra inverted duplicated chromosome 15. The abnormal chromosome was considered to be the same in all cases, but its precise delineation remained uncertain and was defined as either 15pter leads to 15q12::15q12 leads to 15pter or 15pter leads to 15q11::15q13 leads to 15pter. Analysis with various techniques of the satellite regions of the bisatellited chromosomes demonstrated maternal derivation in six and paternal derivation in one of the seven families. A non-sister chromatid exchange between the two homologous chromosomes 15 is considered a likely origin of the inv dup(15) in the cases with maternal derivation; in the only case of paternal derivation, however, the abnormal chromosome originated from one single chromosome 15. The clinical findings confirm that patients with inv dup(15) have mental and developmental retardation and are frequently affected by seizures, while severe physical malformations are absent.

Abnormalities, Multiple↗
PubMedDate not supplied

[Handicaps due to perinatal causes in Trento newborn infants (1979-1988)].

A survey on perinatal handicaps must follow some standards: a) homogeneous population; b) univoc method of evaluation; c) 7 years follow-up; d) case control study. From ethnic and geographical point of view, Trentino is in a favorable condition; all pathologic cases come in the only 3th Level Center (Trento), and all neurological evaluations were made from the same specialist up to primary school. Now case control survey is starting. In district of Trento neonates without congenital malformations have risk for severe residual handicaps of 0.08%; under 1500 g the risk is 6.5% while in the group 1500-2499 the risk is 0.53%. A better prevention program during pregnancy and in Intensive Care Unity may reduce the severe outcome in the 1500-2499 group of neonates.

Birth Injuries↗