A novel double nucleotide substitution in the HMG box of the SRY gene associated with Swyer syndrome.

We describe a novel double nucleotide substitution in the SRY gene of a 46,XY female with gonadal dysgenesis or Swyer syndrome. The SRY sequence was analysed by both the single-strand conformational polymorphism assay and direct DNA sequencing of products from the polymerase chain reaction. A double nucleotide substitution was identified at codon 18 of the conserved HMG box motif, causing an arginine to asparagine amino acid substitution. The altered residue is situated in the high mobility group (HMG)-related box of the SRY protein, a potential DNA-binding domain. Since the mutation abolishes one HhaI recognition site, the results were confirmed by HhaI restriction mapping. No other mutations were found in the remaining regions of the gene. The corresponding DNA region from the patient's brother was analysed and found to be normal. We conclude that the SRY mutation in the reported XY female occurred de novo and is associated with sex reversal.

A case of pediatric systemic lupus erythematosus with early onset and unusual serologic and clinical findings.

The authors report on a case of Pediatric Systemic Lupus Erythematosus (SLE) in a female child aged 3 1/2 with a set of peculiar clinical and serologic characteristics; early onset of the disease, non-specific clinical signs, high serum levels of IgG and a clinical course characterized by the absence of renal neurological and articular involvement.

Down syndrome and coeliac disease: usefulness of antigliadin and antiendomysium antibodies.

The usefulness of antigliadin (AGA) and antiendomysium antibodies (EMA) as a screening test for coeliac disease (CD) in 113 Down syndrome (DS) patients (61 children) was evaluated. AGA IgA were present in 22.1%, AGA IgG in 48.6%, EMA in 6.2%. Four symptomatic patients, AGA- and EMA-positive, were affected by CD (3.5%). In three AGA-positive and EMA-positive subjects, permission for intestinal biopsy was refused, while in two AGA-positive and EMA-negative children, the intestinal mucosa was normal. Our study confirms the association of CD and DS, and suggests the usefulness of EMA determination as a test for selecting DS patients for intestinal biopsy.

[Spondylitis in infancy. A case report]. / Spondilodiscite in età pediatrica. Presentazione di un caso.

The authors report on a case of a spondylodiskitis in three year old child. Diskitis is an inflammatory process of the intervertebral disk space, not often described in pediatric age. The etiology is infective and generally presents with lumbar spine localization. Clinically it is characterized by lumbar pain at times radiating to a lower extremity. Symptoms are aspecific and radiological signs do not appear for several weeks after the onset of symptoms. Interest in this pathology derives from the fact that it may be more common than previously recognized. This case offered us the opportunity to review principal symptoms of diskitis and to describe the main diagnostic technics used.

Exclusion of Treacher Collins Franceschetti syndrome in a subject with tetralogy of Fallot and cryptorchidism.

Genotyping with flanking DNA markers was used to ascertain Treacher Collins Franceschetti syndrome (TCOF1) in a subject affected by tetralogy of Fallot and cryptorchidism. The proband's family consisted of a father and sister who were affected by the disease, and a healthy mother. Since cardiac malformation and cryptorchidism have been associated with the TCOF1 syndrome, the proband was suspected to be a carrier of the mutated gene. Microsatellite markers D5S527, SPARC and D5S519, which previously mapped the TCOF1 gene within a 2.1-cM interval on chromosome 5 (5q32-33.1), were used to follow the transmission of the TCOF1 mutated locus. Flanking markers D5S519 and D5S527 were informative and enabled us to exclude inheritance of a TCOF1 mutation to the proband, while showing that cardiac malformation and crytorchidism were unrelated in this patient.

"Sex passport" obligation for female athletes. Consideration and criticisms on 364 subjects.

In Ancient Greece determination of sex was made by direct observation of the all-male athletes participating in the Olympic Games. In 1966 the International Olympic Committee (I.O.C.) established that female athletes must submit to a complete physical examination before each international competition. In 1968 they further established that each female participant be granted a "Sex Passport" based upon the findings of a medical and gynaecological examination as well as chromosomal sex determination. The authors, whose department has been responsible for granting Sex Passports for more than 20 years, examined 364 female athletes aged 16 to 29 years using I.O.C. criteria. They found three chromatic-negative cases (0.8%). The present work indicates several scientific shortcomings of the current I.O.C. examination criteria, illustrates three chromatin-negative cases, their consequences and proposed a return to original criteria for examination except in doubtful cases.

Down syndrome with unusual chromosome translocation: case report and review.

We report a case of Down syndrome with unusual chromosome translocation. The proband is a 1 year old male with 47, XY, der (5) t(5;21) (q11:q21), + der (5) t(5;21). The mother's karyotype was 46 XX, der (5) t(5,21) (q11:q21). The chromosome imbalance resulted from 3:1 meiotic segregation.

[Trisomy 18 with unusual clinical and chromosome features]. / Trisomia 18 con caratteristiche cliniche e cromosomiche inconsuete.

The Authors describe a newborn with costal hypoplasia and vertebral malformation, tracheoesophageal fistula, congenital heart disease and closed hands with the second and third finger overlapping. Cytogenetic findings indicated trisomy 18 [47, XX, -1, +der(1), +der(18), t(1;18) (q1.2; p11.3)] inherited by mother's carried balanced translocation 1q/18.

Trisomy 9 mosaicism syndrome. A case report and review of the literature.

The authors report on a case of trisomy 9 mosaicism syndrome, a rare chromosome abnormality. The common features of this syndrome are growth and mental retardation, low-set malformed ears, wide sutures and fontanelles, bulbous nose, short palpebral fissures, micrognathia, microphthalmia and enophthalmos, abnormal hands and feet, hip dislocation, joint limitation, cardiovascular defects and urogenital abnormalities. Our patient presented some unusual characteristics, such as 13 pairs of ribs, a vertebral malformation, a hemivertebra and a Dandy-Walker syndrome. They compare their clinical findings with the few cases previously described and they try to contribute to the further clinical definition of the syndrome. It is possible that there is a correlation between the variability of the phenotype and the percentage of trisomic cells in the patient.

[Hypoplasia of the renal artery as a cause of renovascular hypertension. A case report]. / L'ipoplasia dell'arteria renale come causa di ipertensione reno-vascolare. Descrizione di un caso clinico.

The authors report the case of an 8-year-old Libyan boy who presented with hypertension, episodes of vomiting and headaches during the past year. Routine blood tests, including nitrogen and urea clearances, were normal; an ultrasound scan and a urography demonstrated a left kidney smaller than the right. Further tests were carried out to evaluate the morphology and the function of the kidney; a scintigraphy confirmed the hypoplasia of the left kidney with reduction of the glomerular filtration rate. The arteriography of the abdominal aorta was decisive, confirming not only the hypoplasia of the left kidney, but also the presence of a hypoplasic renal artery. The latter appeared to be uniformly hypoplasic, with no signs of segmentary stenosis. This fact suggested the hypothesis of renovascular hypertension caused by a hypoplasia of the renal artery. The medical treatment with enalapril gave good results, with normalization of the pressure levels after 5 days of administration. However, only nephrectomy is able to give excellent long-term results.

The hepatic malignant mesenchymoma: a case report.

We report a case of hepatic mesenchymoma in an 8-year-old girl who presented with abdominal pain and ultrasonographic diagnosis of hepatic echinococcosis. Due to the good general condition of the patient and the diagnostic confirmation of liver hydatid disease by the CT scan, antiparasitic therapy with albendazole was started. After 1 month of therapy the girl's general condition worsened as did the ultrasonographic picture. On laparatomy a large cystic mass was observed within the right hepatic lobe and was removed. Pathological examination of the mass excluded an echinococcal cyst and demonstrated a malignant hepatic mesenchymoma.

[A clinical and cytogenetic study of 50 women with Turner's syndrome. Considerations of the problem of pregnancies in these patients. Part 2]. / Studio clinico e citogenetico di 50 donne con sindrome di Turner. Considerazioni sul problema delle gravidanze in queste pazienti. Seconda comunicazione.

The results of a study on 50 patients with Turner syndrome, all of them older than 14 years and never treated, are reported. In order to correlate karyotypes and clinical manifestations of the syndrome, we performed a complete physical examination and ultra sonographic tests of the heart, kidneys, uterus and ovaries. We found a better spontaneous growth and sexual maturation in mosaic 45.X/46.XX patients than in patients with 45.X and X structural anomalies. No differences were found in heart and kidney congenital anomalies between groups of patients with different karyotypes. We conclude that the presence of an XX-line has an ameliorating effect on height and gonadal function of patients with Turner syndrome.

[Benign recurrent intrahepatic cholestasis. Description of a clinical case]. / Colestasi intraepatica ricorrente benigna. Descrizione di un caso clinico.

We present the clinical case of an 8 years old boy affected by episodes of severe recurrent jaundice, preceded by intense itching with clinical and biochemical signs of cholestasis, diagnosed as benign recurrent intrahepatic cholestasis (B.R.I.C.), or Summerskill's syndrome. This was first described by this author in 1959. The syndrome appears as a rare form of cholestatic jaundice of unknown pathogenesis, which in 80% of cases shows up before the age of 20. Its clinical characteristics are episodes of severe jaundice preceded by intense itching with biochemical signs of cholestasis which rise with no apparent cause and which recover spontaneously and are intervalled by asymptomatic periods which last months or years. During this time there is also a regression of the chemical and histological evidence of cholestasis. The diagnosis of B.R.I.C. can be made after having excluded the other congenital or acquired causes of intrahepatic cholestasis according to the recurrent character of the jaundice and to the hepatic biopsy.

[Vaccination against hepatitis B in childhood as possible means of infection control]. / Vaccinazione contro l'epatite B in età pediatrica come possibile strumento di controllo dell'infezione.

A follow-up of 21 months was conducted in order to evaluate the efficacy of vaccination against Hepatitis B Virus in a group of 54 children (age 2-14) belonging to family cluster characterized by the presence of HBsAg healthy carriers. HB-VAX, plasma-derived, and Engerix B, by a recombinant DNA technique, were both employed and administered with the following schedule: three doses of 0, 1 and 6 months. Out of 54 subjects, 48 completed the follow-up. These children all presented a good immune response as assessed at 1 and 12 months after the last administration. The results obtained show that this vaccination, free from side effects, is the most efficacious and safest tool to control the spread of Hepatitis B Virus infection and its complications at short and long term, especially when carried out on a large scale.

Fibrodysplasia ossificans progressiva. An 11-year-old boy treated with a diphosphonate.

Fibrodysplasia ossificans progressiva (FOP) is a severe, rare, autosomal dominant, ectopic ossifying condition, with primary involvement of the skeletal muscles associated with skeletal abnormalities. This report concerns an 11-year-old boy suffering from FOP, who presented significant modification of the musculoskeletal structure of the thorax and problems with articular movements. The patient showed progress after treatment with ethane-1-hydroxy-1,1-diphosphonate (EHDP). In fact, using a scintiscanner we were able to observe a significant improvement in symptoms and a recovery of some of the active sites of ossification.

[Neurological complications of Mycoplasma pneumoniae infection. Description of a case of meningitis with clear cerebrospinal fluid]. / Complicanze neurologiche dell'infezione da mycoplasma pneumoniae. Descrizione di un caso di meningite a liquor limpido.

Mycoplasma pneumoniae (M.p.) is generally responsible of upper and lower respiratory tract infections in children in school age; in about 2% of cases can be also considered the cause of a NS infection: meningitis, encephalitis, cerebellitis, transverse myelitis and ascending polyradiculitis. The authors describe a case of meningitis following an acute otitis media in a 6 years old child. This patient presented also a fourfold or greater decrease in titer of complement fixing antibodies to M.p. The authors suggest a systematic research of M.p. in patients with clear CSF meningitis.

[Turner syndrome. Cytogenetic analysis of 165 patients with Turner syndrome. 1st report]. / La sindrome di Turner. Analisi citogenetica di 165 pazienti con S. di Turner. Prima comunicazione.

Results are reported of a cytogenetic study on 165 patients with Turner syndrome, based on sex chromatin and karyotype tests. We found that the karyotype 45,X is present only in 54.54% of the cases in homogeneous form and in about 14% of the cases in mosaic form associated with a normal clone 46,XX or, rarely, also with a clone 47,XXX; in the other cases X structural anomalies and different kinds of mosaic forms are present. We also found 5 pregnancies in 2 patients: only 2 daughters were born and alive, the first was normal and the second presented the same karyotype and clinical picture of her mother.

[Description of a case of Meckel's diverticulum and chronic anemia in a 4-year-old boy]. / Descrizione di un caso di diverticolo di Meckel ed anemia cronica in un bambino di 4 anni.

The case of a boy of 4 years 6 months suffering from Meckel's diverticulum (M.D.) and chronic anaemia is reported. The patient presented no evident sign of bleeding of the mucosa or of other sites. Admitted to the Paediatric Clinic for severe anaemia, he underwent numerous clinical and laboratory investigations that revealed the presence of a bleeding M.D. This was removed surgically and in a comparatively short time (about 3 months), the haematic picture normalized, with manifest benefit to the child.