[Hypophosphatasia: a family study]. / Ipofosfatasia: studio di una famiglia.

Diagnostic pathway and 5-years follow-up of a case of childhood-form hypophosphatasia (a severe form of vitamin D resistant rickets) are described. Family study led to the identification of five affected relatives (father, sister, paternal uncle, first-cousins), two with severe clinical evidence. Inheritance pattern in this family is compatible with autosomal dominant transmission.

[Resumption of breast feeding in low-birth-weight newborn infants]. / Recupero dell'allattamento al seno nei nati di basso peso.

It has been inquired into the possibility of the resumption of breast feeding in low birth weight babies, in the 101 survivors of the 128 infants weighing less than 2000 g at birth, who were born at St. Andrea Hospital in Vercelli between 1974-82. 86% of the mothers accepted to attempt breast feeding after the separation period for intensive care and the attempt the successful in 85% of the cases (73 infants). The resumption was successful with more than 90% of the infants weighting more than 1250 g at birth and 68.6% of these infants were exclusively breast-fed. 57% of those infants weighting less than 1250 g at birth resumed breast feeding. No infant developed an infectious disease nor necrotizing enterocolitis. Almost all of the mothers succeeded in maintaining breast feeding for a mean period of 5 months and all of them considered the experience extremely positive. The study demonstrated that it is possible to resume breast feeding in low birth weight babies with suitable encouragement and care on the part of the family, the doctors and the nurses.

[Mannosidosis. Study of two families and prenatal diagnosis]. / La mannosidosi. Studio di due famiglie e diagnosi prenatale.

Mannosidosis is a human lysosomal storage disease caused by and acid alpha-mannosidase deficiency. We have studied two affected Italian families and in this paper discuss the problems concerning the clinical and radiological findings, and laboratory assay as an access to diagnosis. Reference is made to our personal experience, as concerns the difficulties of carrier detection and of prenatal diagnosis.

[Malformations of the midline. A case-control study]. / Malformazioni della linea mediana. Uno studio caso-controllo.

Defects of the middle line are an heterogeneous group of congenital malformations due to commune pathogenetic mechanisms. We have made a case-control study about 150 newborns, who have at least 1 defect of the middle line. Results prove an excess of males between the cases, due mostly to hypospadias. We haven't found families with defects of the middle line with x-linked manner of hereditary transmission. We haven't found any particular risk present in cases and not in controls. We haven't found any case with 2 or more middle line defects.

[The Cri du Chat syndrome: a study on the quality of care]. / Sindrome del Cri du Chat: indagine sulla qualità dell' assistenza.

AIM: The Cri du Chat syndrome (SCdC / [OMIM #123450]) is a rare disease characterized by the deletion of the short arm of chromosome 5. The typical clinical features are the cat-like cry, microcephaly, a distinct facial phenotype and a severe psychomotor and mental retardation. The aim of this study was to provide an analysis on the data concerning the life quality and families assistance to whom have a child affected by Cri du Chat syndrome such as: the life's change of parents after the child's birth, the frequency of treatments, the collaboration between family and center of reference. METHODS: We have also analyzed the improvement obtained, the type of school attended, the aide and the time spent at home in postprimary education. Through a questionnaire sent to 100 families, we have been picked up information on 76 patients. RESULTS: These families have to adapt to the reality of a child with a rare genetic disorder for which there are no pharmacological or surgical therapies. CONCLUSION: Therefore, it seems important to give information and tips for dealing with the disease and the early start of rehabilitation and educational therapy.

Genitourinary anomalies in Mowat-Wilson syndrome with deletion/mutation in the zinc finger homeo box 1B gene (ZFHX1B). Report of three Italian cases with hypospadias and review.

Hypospadias, when the urethra opens on the ventral side of the penis, is a common malformation seen in about 3 per 1,000 male births. It is a complex disorder associated with genetic and environmental factors and can be part of genetic syndromes. Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, Hirschsprung disease, microcephaly and mental retardation. It is caused by mutations in the zinc finger homeo box 1B gene, ZFHX1B (SIP1). To date, 68 deletion/mutation-positive cases have been reported. Genitourinary anomalies are common in MWS. Here we report that hypospadias is common in males with this syndrome. In 39 patients where this information was available, hypospadias was present in 46% of patients (18/39). In the 3 Italian male cases reported here, hypospadias was always present. MWS should be considered by endocrinologists in patients with hypospadias associated with developmental delays/mental retardation, in particular in the presence of a distinct facial phenotype.

[Implementation of the pediatric services in the region of Piedmont. A Piedmont pediatric team]. / Attuazione dell'area pediatrica nella regione Piemonte. Gruppo Collaborativo Pediatrico Piemontese.

A survey was carried out within the framework of the Association of Hospital Pediatricians (APO) on the implementation of the pediatric structure in Pediatric hospitals wards in Piedmont during 1990. There was a 100% adhesion rate. It was found that only in 7 out of 36 hospitals were children always admitted to the Pediatric Division irrespective of symptoms. In all remaining cases, hospitalisation was based on the pathology and therefore children were spread between pediatric and adult wards with a percentage of over 30% (it was only possible to verify this figure in a small number of hospitals). Children with surgical symptoms were admitted to adult wards for the entire duration of their hospital stay in 17 hospitals. Only in 7 hospitals were children with surgical problems given pre- and postoperative treatment in pediatric wards. In 18 out of 36 hospitals children undergoing surgery were not even examined before the operation by a pediatrician. The implementation of the pediatric structure mainly depended on the behaviour of the PS DEA and therefore the fact that when a child entered hospital he immediately came into contact with the pediatrician. It was also found that average hospital stay in pediatric wards was 4.4 days (range 2.1-7.4); the mean index of bed occupation was 50% (range 27.5-83.4). A pediatric doctor was on duty round the clock only in 10 out of 36 centres. In the majority of hospitals the number of beds destined for day-hospital activities was not specified. It is also worth pointing out that the number of neonatal cradles is never specified by the Regional Health Plan and there is no legal recognition of neonates admitted to the Nursery and, as a result, the number of neonatal medical staff is not quantified. A greater incisiveness of the current statutory requirements for the implementation of the pediatric structure might improve the level of assistance for children admitted to hospital.

[Severe sideropenic anemia in a young middle-distance runner]. / Grave anemia sideropenica in una giovane atleta mezzofondista.

In recent years several cases of anemia (iron deficiency) have been reported in adults who participate in long-distance running although its etiology has not been entirely explained. We report the case of a 16-year-old girl who had participated in middle-distance running at a competitive level for about three years and who had been admitted to hospital because of a progressive weakness and a reduction in her sporting performance. Evaluation revealed that the patient had a balanced diet, normal menstrual cycles and slight abdominal pain. The objective examination were negative except for the presence of a pronounced pallor of the skin and the mucous membranes. The blood count revealed Hb 7.5 g%, Ht 26%, GV 63 mu 3, the reticulocyte count was 10%, serum iron 9 micrograms/dl, serum transferrin 450 micrograms/dl and serum ferritin 4 ng/ml. All tests for constitutional anemia proved negative. Stool Hemoccult tests proved negative (these tests were carried out some weeks after the patient had stopped running). Her symptoms resolved after the beginning of iron treatment and her blood test results returned to normal. This case has been reported to draw attention to the existence of this problem in adolescents who practice sport. The knowledge of the problem night lead to a preventive scanning of young athletes and the presence of clinical manifestations would reduce the need for invasive tests.

[Spasmus nutans. A re-emergent pathology?]. / Spasmus nutans. Una patologia riemergente?

The authors report two cases of spasmus nutans (a clinical syndrome peculiar to infancy the complete form of which is characterised by nystagmus, rhythmic head movements and wryneck) in two extra-EEC infants. The following elements were present in both patients: scarce exposure to light, early introduction of whole cow's milk, rachitic stigmata, dark skin, poor socio-economic conditions and rapid and complete remission of symptoms following daily exposure to sunlight. It is important to distinguish spasmus nutans, a completely benign and self-restricting disease, from potentially severe conditions which may appear with similar symptoms. It should be expected that this clinical condition will become more frequent in view of the considerable increase in the size of the non-EEC population.