[Angiomatous meningioma and epilepsy in a 2.6-years-old girl]. / Meningioangiomatosi ed epilessia in una bambina di 2 anni e sei mesi.

A case of meningo-angiomatosis (MA), in a 2.6 -years-old girl with refractory focal and secondary generalized seizures, starting at the age of 2 years, is presented. MRI evaluation revealed a lesion located at the left temporal lobe; the patient underwent surgical intervention. Histology revealed the lesion to have the features of MA.

A family with the Saethre-Chotzen syndrome.

Acrocephalosyndactyly (ACS) is an inherited syndrome of premature synostosis of the cranial sutures and abnormalities in the distal segments of the limbs. Several forms of ACS have been described. ACS type III (or Saethre-Chotzen syndrome) is characterized by microcephaly, skull asymmetry, mild syndactyly, and facial abnormalities. We describe an Italian family with ACS III in which two sibs are clearly affected; the mother and the maternal grandmother show some features of the syndrome.

[Clinical course of brain tumors in childhood]. / Clinica dei tumori cerebrali dell'infanzia.

Brain tumors are, after leukemias, the most frequent fatal neoplasms of infancy. The clinical features and symptoms are often markedly different from those observed in the adult forms, according to the peculiar anatomy and behaviour of the child. Persistent headache, vomiting, astenia , behavioral alterations may be the precocious findings. Later, some more specific and suggestive signs such as strabismus, dyplopia , fast head size increase, funduscopic alterations, ataxia, paresis and nystagmus may be observed. On their appearance a prompt diagnostic work-up should be performed. The tumors of the posterior fossa (cerebellar astrocytoma and medulloblastoma, brainstem glyoma , hependimoma in decreasing order of frequency) generally cause precocious symptoms because of the small dimension of the subtentorial space; the presence in this region of several fundamental nuclei and pathways may explain how also small tumors may cause severe deficits. Supratentorial tumors (astrocytoma, malignant glyoma , hependimoma , craniofaringioma ) often show a more prolonged latency and may begin with signs of endocranial hypertension, seizures, or sometimes with hormonal troubles according to the involved anatomic structures. Hypothalamic astrocytoma is responsible of an extreme weight loss as far as to a cachetic status, due to the hyperincretion of GH. Finally, plexus papilloma, dermoid, optic nerve glyoma , oligodendroglyoma , germinoma, teratoma are responsible of a small number of child brain tumors, with different localization and symptomatology.

[Supportive therapy in brain tumors in children]. / Terapia di supporto nei tumori cerebrali infantili.

Recent advances in brain tumors therapy in infancy may be attributed not only to surgical, chemical and physical therapies improvement, but also to a more complete and accurated assistance to the neoplastic child. The constant support of an up-to-date and specialized laboratory and nursing staff may reduce the most common compliances of the neoplastic disease course and therapy. Neoplastic child with his family is facing a terrible stress, often with incumbent death risks. So a psychologic help is advisable for the whole family, and the best feeling is requested for the physicians. Supportive therapy must provide prevention and correction of the most common compliances of tumoral conditions, i.e. infections and hemorrhages . A correct and specific antibiotic therapy is absolutely necessary, but sometime is not sufficient. The introduction of hemoderivatives let us to spare the side effects of excessive whole blood transfusions, while the defective component may be selectively provided. Granulocyte transfusion recently introduced, may be the clue to the resolution of an overcoming infection.

[Sudden infant death syndrome (SIDS)]. / La sindrome della morte improvvisa del lattante (SIDS).

Sudden Infant Death Syndrome (SIDS) is the term first proposed in 1969 for a distinctive subgroup of unexpected infant deaths occurring during the first months of life, with relatively consistent clinical, epidemiological and pathological features, which remain unexplained after a thorough case investigation, including a complete autopsy, examination of death scene and review of clinical history. Sudden infant death unnecessary means SIDS. According to definition, SIDS remains a diagnosis of exclusion, distinguished from others only by subjective and permissive variables. Despite the vague and permissive nature of the definition, epidemiological studies identified some risk factors as prematurity and social disadvantage. Nevertheless, the most interesting findings are those related to environmental and care features, as drug addiction and/or smoke exposition during pregnancy, sleep position of the infant, environmental temperature, parental bed sharing and breast feeding. Those factors play a variable role, but their correction reduced SIDS incidence. Sudden infant death is a diagnosis made by expert pathologists with pediatrician's and investigator's advice, based primarily on autopsy findings and death scene investigation performed through the severe application of investigative protocols.

[Hepatitis B: is the current vaccination policy the correct one everywhere?]. / Epatite B: è ovunque corretta l'attuale strategia vaccinale?

In this study we have tried to examine retrospectively all the babies born to HBsAg + mothers in the past nine years, in order to evaluate which is the real incidence of perinatal transmission of HBsAg, and then if the actual politic to vaccinate only these babies is right and sufficient. The results demonstrate that the perinatal transmission is not a major problem in our country, so we suggest that for improvement of public health is more advised the vaccination of all infants: those born to HBsAg + mothers at the birth, the others in the third month of life.

Ruvalcaba syndrome: a case report.

An 11-year-old child with mental retardation and short stature was examined and found to be affected with some skeletal malformations. The clinical and radiological pattern of limb alterations was particularly suggestive of the features of Ruvalcaba syndrome. A complete examination confirmed the diagnosis and showed ocular involvement. To the best of our knowledge this is first published confirmation of Ruvalcaba syndrome.

Infantile hepatic hemangioendothelioma treated by radiotherapy.

Infantile hepatic hemangioendothelioma is a rare tumor of infancy, sometimes associated with cutaneous hemangiomatosis. It is clinically evident within the first six months after birth and can be life threatening because of heart failure, intraperitoneal hemorrhage or thrombocytopenia. In less severe forms spontaneous regression has been described. Current treatment may be surgical ligation of the hepatic artery, or pharmacological therapy with corticosteroids or radiotherapy. A 4-month infant is described, admitted with acute heart failure and huge hepatomegaly. Since a surgical approach was not possible and corticosteroid therapy failed to achieve the expected effect, radiotherapy was given with excellent results.

Non-progressive psychomotor retardation in a child with severe deficiency of arylsulphatase A activity.

Severe deficiency of arylsulphatase A (ARSA) activity was detected in a boy with delayed psychomotor development, coarse face and liver enlargement when he was aged 2. The case does not fit into the description of the Metachromatic leukodystrophy (MLD) proposed by Hagberg (1963) mainly because he did not deteriorate. Twelve years of follow up did not show any signs of decerebration or further intellectual decline; only speech was, and still is, absent. The reduced ARSA activity in leukocytes and fibroblasts of the father of the propositus suggests that he is heterozygote and that the ARSA deficiency of the propositus is inherited. The ARSA activity of the mother overlaps with the lowest control. The assumption that the mother is a carrier of different mutations could explain the discrepancy between the clinical and biochemical findings of the patient. This is a further family in which mutations other than the typical one can be postulated to explain variable clinical or biochemical pictures of MLD.

Rectal extrusion of the catheter and air ventriculography following bowel perforation in ventriculo-peritoneal shunt.

Ventriculo-peritoneal shunt is frequently carried out in infantile hydrocephalus. The peritoneal shunt has a lower morbidity than ventriculo-atrial shunts and severe complications are uncommon. Abdominal complications include intestinal perforation, shunt migration, inguinal hernia, cerebrospinal fluid pseudocysts and hollow viscus perforation. A few cases of catheter extrusion from the rectum, vagina, umbilicus and urethra have been described. We report a new case of intestinal perforation with rectal extrusion of the catheter associated with a ventriculogram.