Massive hemobilia and papillomatosis of the gallbladder in metachromatic leukodystrophy: a life-threatening condition.

Polyposis of the gallbladder is rare during childhood. This condition can be associated with three other conditions: metachromatic leukodystrophy, Peutz-Jeghers' syndrome, and pancreaticobiliary maljunction. We report the case of a child with hemobilia in metachromatic leukodystrophy, which rendered cholecystectomy necessary. Macroscopically, the gallbladder measured 4.6 cm in length and showed an opaque serous surface and focal brown petechiae. Moreover, a yellow polypoid lesion of 2 cm in diameter and a diffuse thickening of the fundus wall were observed. Many reports describe the importance of the association of gallbladder papillomatosis with metachromatic leukodystrophy, but only three cases presented with massive intestinal bleeding, such as our young patient had. It is thus imperative that this life-threatening condition should be well known.

MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature.

MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature: We describe the clinical history and magnetic resonance imaging (MRI) findings in 10 children with the Macrocephaly-Cutis Marmorata Telangiectatica Congenita syndrome (M-CMTC--MIM 602501). This syndrome has recently been delineated within the general group of patients with Cutis Marmorata Telangiectatica (CMTC) as a distinct and easily recognisable entity. In contrast to most children with CMTC, patients with M-CMTC syndrome have a high risk of neurological abnormalities, such as hydrocephalus, megalencephaly, developmental delay and mental retardation. An MRI scan showed structural cerebral abnormalities in all of our patients, including megalencephaly, asymmetry of the cerebral hemispheres and abnormally increased signal of white matter. Seven patients also had Chiari type I malformation. Reviewing all reported cases, we propose appropriate surveillance for known complications.

Disorder of cerebellar foliation in Walker's lissencephaly and neu-laxova syndrome.

A diffuse disorder of cerebellar foliation was found in eight infants and one fetus with Walker's lissencephaly. The cerebellar cortex consisted of fused and irregularly distorted folia. In the white matter, trilaminated rings of cortex were concentrically arranged around blood vessels and mesenchymal tissue. The normal relative position of the different classes of cortical nerve cells was preserved. Cells of the external granular layer invaded the meninges and migrated along penetrating blood vessels. We believe that this foliation disorder is caused by a defect in the external basal lamina that allows adjacent folia to be fused and sulci obliterated by intrameningeal ectopias of external granule layer cells. Physical forces applied during development probably contribute to the distortion of the gyral pattern. There was a volumetric reduction of the neocerebellum, which might also be a consequence of the basal lamina defect. The cerebellum of a fetus with the Neu-Laxova syndrome showed the same abnormalities as in Walker's lissencephaly. It is postulated that these two conditions belong to a class of prenatal developmental disorders that involves a defect of the extracellular matrix.

[Perinatal cerebral ischemic injury. Neuropathologic bases and correlations with computerized tomography]. / Il danno ischemico cerebrale perinatale. Basi neuropatologiche e correlazioni con la tomografia computerizzata.

The term "hypoxic-ischemic encephalopathy" covers a large part of neonatal neuropathology including the various forms of intracerebral haemorrhage. In the present work the term is confined to ischemic brain edema and actual infarction, be it diffuse or focal. Eighteen newborns with CT evidence of ischemic brain lesions and infarct necrosis were selected. Emphasis is placed on current data on neuropathology of ischemic brain edema and its CT appearance. Particular entities such as periventricular leukomalacia and multicystic encephalopathy are discussed. Relationship between CT and temporal profile of cerebral damage is emphasized in order to predict the structural sequelae and the longterm prognosis.

[Vertebrobasilar insufficiency of prenatal origin: a case report]. / Insufficienza vertebro-basilare di origine prenatale. Descrizione di un caso.

The case of a newborn presenting from birth with arthrogryposis multiplex congenita resting mainly on the legs, severe hypotonia, consciousness anomalies, clonic fits, recurrent apnea and bradycardia, absent sucking and swallowing is described. At the age 4 months a further episode of apnea and bradycardia was followed by death. The neuropathologic analysis disclosed a number of bilateral, cystic and symmetric infarcts in the thalamus and hypothalamus, spreading caudally to the tegmentum of the mesencephalon and the pons. Such distribution of lesions does suggest a vascular topography, i.e. in the territories supplied by branches of the vertebro-basilar arteries. There was light clinical and neuropathological evidence of prenatal occurrence of the vascular injuries, possibly at the end of the 7th month by a defective arterial perfusion of the fetus due to protracted menaces of premature birth. We would outline the existence and frequency of the thalamic and dorsal brain stem necrotic involvement by acute anoxia-ischemia occurring in the third trimester of gestation or at birth, and the relative peculiarity of their clinical picture.

[20 years (1960-1980) of bacterial meningitis in childhood. II. Therapy and diagnosis]. / 20 anni (1960-1980) di meningite batterica nell'infanzia. II. Terapia e diagnosi.

In this article we review the global therapy for purulent meningitis in childhood and present personal data derived from a twenty year survey study (1960 to 1980). We recommend the prompt use of adequate antibiotics at correct doses largely following the intravenous pathway in order to achieve active antimicrobial levels in the cerebrospinal fluid. On the basis of our experience we favour a more large use of either systemic chloramphenicol or intrathecal even in the neonatal period. Moreover, we think glucose infusions should be employed with great caution due to worsening of metabolism (lactate accumulation) and perfusion in the cerebral tissue.

[20 years (1960-1980) of bacterial meningitis in childhood. I. Epidemiological and clinical data]. / 20 anni (1960-1980) di meningite batterica nell'infanzia. I. Dati epidemiologici e clinici.

One hundred forty six children having suffered bacterial meningitis at any age have been collected and retrospectively studied over a period of a twenty year survey (1960 to 1980). In our series we can confirm the prominent epidemiologic and clinical features emerging from the literature. It is notewborty to outline the great percentage of cases lacking any bacterial identification due to previous antimicrobial treatment for parameningeal foci. This raises some major problems about early diagnosis, validity and signification of lumbar punctures, and usefulness of starting treatment with large spectrum antibiotics.

[Neuropathology of the Turner syndrome]. / Neuropatologia della sindrome di Turner.

We report the neuropathologic examination of a neonatal case of Turner's syndrome (45,XO). We have found some mild irregularities in the cortical organization, notably in frontal and hippocampal regions. In the frontal cortex such anomalies affected particularly the more superficial layers essentially sparing the migrating process which was largely achieved in its fundamental phases. The hippocampal dentate gyrus appeared abnormally infolded. The cerebellum was hypoplasic and contained three types of abnormalities, at least: abundant paradentate matrix cell nests, a large mass of dysplastic cerebellar gyri along the ventral wall of the 4th ventricle and, finally, multiple voluminous heterotopias of macroneurons (possibly, Purkinje cells) in the subcortical white matter. In addition, there were two small olivary heterotopias in the medulla oblongata. The correct identification of all neuropathologic anomalies has been possible for having employed the method of whole brain serial sectioning. We have correlated such cortical, cerebellar and truncal abnormalities to those encountered in similar conditions as lissencephaly, Zellweger's disease and chromosomal trisomies. The pathogenetic mechanisms triggered by the absence of an X chromosome can affect the neuronal migration, but only after the cortical hemispheric one has been almost completely ended. This could explain why cerebellar and olivary neuronal migration are exclusively affected, being there the migration process chronologically slowed down during the normal neurogenesis. There means we might date after the 4th fetal months the neuronal migration trouble. Finally, we would suggest the soft cortical changes in such crucial regions as the frontal and hippocampal cortex to be possibly responsible for the degree of mental retardation seen in these patients.(ABSTRACT TRUNCATED AT 250 WORDS)

[Adaptation of the family and the psycho-affective development of the child with congenital cardiopathy]. / Adattamento della famiglia e sviluppo psico-affettivo del bambino con cardiopatia congenita.

26 children affected by congenital heart disease and their families have been object of a retrospective analysis. The emotional involvement of the family for the event "birth of a child with a cardiac malformation" has been evaluated. The influence of family's attitude on the psychological development of the sick child has been studied.

[Congenital hydrocephalus: clinico-pathological picture]. / L'idrocefalia congenita: quadri clinico-patologici.

The authors review the main pathologic causes of congenital hydrocephalus from ischemic-vascular injuries, embryofoetal infections and dysraphisms to genetic ones. Abundant illustrations of each condition are furnished and particular attention is paid to each situation, discussing the available pathogenetic mechanisms and hypothesis. Genetic "sine causa" hydrocephalus and X-linked hydrocephalus are mainly stressed, presenting some personal data. The clinic aspects of the varying forms of hydrocephalus are continuously kept in mind and a terminal paragraph details the clinical and neuroradiological means determinant in differential diagnosis versus similar conditions such as hydranencephaly, porencephaly, aracnoid cysts, holoprosencephaly and agenesis of corpus callosum.

[Congenital duodenal obstruction, Malrotation of the intestine associated with annular pancreas (author's transl)]. / Occlusione duodenale neonatale. Considerazioni su di un caso di malrotazione intestinale associata a pancreas anulare.

A newborn presenting duodenal stenosis by small bowel malrotation and annular pancreas is reported. Major diagnostic problems in duodenal obstruction of newborn are considered in keeping with literature review and personal experience. In this presentation clinical appearance has been long aspecific (apnea and bradycardia spells) in spite of a rather typical radiological picture. Really, the true diagnostic nature of midgut obstruction is often intraoperative. Face to any duodenal obstruction in a newborn the possibility of many malformations of the gut should be raised and consequently looked for accurately by the surgeon for a good postoperative prognosis. The surgical procedure of choice is frequently a duodeno-jejunostomy or a duodeno-duodenostomy; the annular pancreas should, on the contrary, never be sectioned.

A Golgi study of the brain malformation in Zellweger's cerebro-hepato-renal disease.

Characteristic neuronal heterotopias in two cases of Zellweger's cerebro-hepato-renal disease were studied with the Golgi method. In the corona radiata, heterotopias consist of large fields of small or medium-sized radial pyramids, and of dense clusters containing larger, randomly oriented pyramidal cells and multipolar neurons, some of which resemble granule cells. The latter type of heterotopia could result from a focal destructive process at a relatively early stage of neuronal migration. In the cerebellar white matter, heterotopic masses contain Purkinje cells and possibly Golgi neurons but no granule or basket cells. The mispositioned Purkinje cells resemble the subcortical and intragranular Purkinje cells of the reeler mutant mouse and those of the weaver mutant. The morphology of neurons in the abnormally convoluted olivary nucleus is normal.