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Pericentric inversion of chromosome 9 is one of the most common structural balanced chromosomal aberrations. It is considered as a paraphysiological variant of a normal karyotype and it is possible to find it as occasional report in healthy subjects. In the last ten years different signals have appeared in literature, concerning carriers of pericentric inversion of chromosome 9, who showed different anomalies of the clinical condition. Today it is difficult, because of the rarity of the data to establish if a true correlation exists between phenotypical anomalies in the subjects studied and the pericentric inversion, or if they are only casual associations. We are trying to find possible correlations between the chromosomal rearrangements and eventual congenital defects. We describe 11 subjects with pericentric inversion of chromosome 9 examined for the presence of dysmorphic signs, mental retardation and repeated miscarriage.

We report our observations about familial segregations of chromosomal aberrations: the simple forms and complex rearrangements. Congenital malformations and mental retardation, can be present both in unbalanced and in balanced translocations. Various hypotheses have been proposed to explain this phenomenon: in particular a possible "position effect" or genic mutation or genomic imprinting. In our study we have used both standard techniques and techniques with high resolution banding to investigate if the rearrangements were balanced or not. Molecular study and gene dosage have been used when possible, to define the correlation with the clinic phenotype.

The data emerging from our study are the following: the presence of an identifiable cause is important: complications like tuberous sclerosis or signs of marked cerebral damage represent an adverse risk factor for IE. The presence of epilepsy among relatives, evidence of pre- or perinatal cerebral damage, mental retardation, and early onset, long periods of uncontrolled seizures before starting an adequate therapy and frequency of seizures appear to be indicative of an adverse prognosis, since differences between the two groups of responsive or unresponsive patients are statistically significant. On the contrary, the occurrence of febrile convulsions in the past history does not seem to have an adverse prognosis. Temporal lobe epilepsy and IS bear the worst prognosis. ME, CPS, GTCS, SPS, LGS and PM have a progressively better outcome in responsiveness to AEDs. Concerning therapy in patients with IE, studies indicate the results of high dose monotherapy appear to be equal or better than with polypharmacy. Because of the gravity of the situation, trials with unconventional drugs have been performed, but it is too early to draw definite conclusions about the long-term usefulness of most of them. In conclusion, our data indicate that the appearance of an IE can be predicted utilizing the above mentioned criteria, considered either alone or in combination. The issue of IE remains undoubtedly an important one among the group of convulsive disorders. Further studies considering a greater number of patients and new therpeutic strategies are to be recommended.

The case of an 8-year-old boy presenting diffuse, prevalently right-sided nevus flammeus, venous angioma of the right cerebral hemisphere, right-sided facial hyperplasia, left-handedness and recurring

One case is reported of dilatation of the lateral ventricles in a patient suffering from craniodiaphyseal dysplasia, with follow up of one year. The pathogenic hypothesis personally proposed are: a) partial and intermittent compression of the aqueduct by a dolico-mega basilar artery; b) "cisternal hypofunction".

The case of an 8-year-old boy presenting diffuse, prevalently right-sided nevus flammeus, venous angioma of the right cerebral hemisphere, right-sided facial hyperplasia, lef-handedness and recurring strokes is reported together with the clinical, angiographic and CT features.

The results of histologic, microradiographic and electron microscopic investigations carried out on two bone biopsies pertaining to a case of craniodiaphyseal dysplasia are reported. They show that the affected skeletal segments are chiefly characterized by enhancement of bone volume, and defective calcification of the bone matrix. Moreover, interstitial calcification of skeletal muscle has been found.

In 6 cases of oxycephaly, isotope (RIHSA) cisternography showed an altered CSF circulation with ventricular reflux or cisternal block and accumulation of the contrast at lumbosacral level. These changes express increased absorption of the CSF by the spinal arachnoid villi to compensate for reduced or nonexistent absorption by the subarachnoid villi of the vault, obstructed by chronic intracranial hypertension secondary to craniosynostosis. The possible clinical implications are outlined.

The growing skull fracture of childhood is a well-known but variously interpreted syndrome. Attempts have been made to find different pathogeneses for clinical and pathological patterns that are really successive phases of a single process, arising from the interaction of three basic conditions: (1) head injury with a large gaping fracture; (2) corresponding dural tear; (3) occurrence nearly always in infancy (the first year of life or period of maximum brain growth). This combination of factors alters the normal distribution of the intracranial pressure vectors and the fracture behaves like a "neosuture" with abnormal growth of the skull on the injured side. Simultaneously, the ventricular system tends to deform, dilating and shifting towards the side of the fracture. Three cases, successfully treated at a very late stage, are described. The good surgical results confirm the validity of the surgical method and its underlying theoretical basis.

A deficiency of growth hormone (GH) was detected in a male child with "empty sella syndrome" (ESS). Association between ESS and defeciences of pituitary hormones has been previously reported in adult subjects. It seems likely that GH deficiency is be related to ESS in the case described in this paper. An appropriate evaluation of the endocrine system seems suitable in this condition, since ESS in childhood is not to be regarded only from neuroradiologic point of view.

Trigonocephaly is a partial form of craniostenosis or rather craniofaciostenosis in which the esthetic damage is severe and early and in which the functional damage (mental retardation, strabismus) may also be severe. The former can be corrected and the latter prevented by early and appropriate surgery. A new surgical procedure for correcting uncomplicated trigonocephaly permits normal development of the skull and orbits and normal psychomotor development.