Phenotypic variability of Pai syndrome: report of two patients and review of the literature.

Pai syndrome is a rare form of frontonasal dysplasia, first described in 1987. It is a triad consisting of midline cleft of the upper lip, facial skin polyps and central nervous system lipomas. Only 14 cases have been reported in the literature. The authors describe the clinical features, diagnostic workup and treatment of two patients. A review of all cases reported in literature is presented to show the phenotypic variability of this rare syndrome.

Congenital diaphragmatic hernia in CHARGE syndrome.

Congenital diaphragmatic hernia (CDH) has been rarely described in CHARGE syndrome. We report a patient affected by CHARGE syndrome presenting with a right-sided Bochdalek-type diaphragmatic hernia, and collect the pertinent literature. Furthermore, we review the embryogenesis of the diaphragm and the pathogenesis of CDH to highlight if this malformation could be explained by a developmental anomaly of CHARGE. On the basis of our study, we suggest that patients affected by CDH, facial asymmetry and cardiovascular or urogenital malformations, should be actively screened for CHARGE syndrome findings.

Testis sparing enucleation of a Leydig-cell tumour in a boy.

Testicular tumours are very rare in paediatric age, accounting only for 1% of all paediatric tumours. Testicular tumours can originate either from germ cells (77.4%) or from stromal cells (7.1%) or from other cells. Leydig-cell tumours account for 1% of all testicular tumours and 39% of gonadal stromal tumours and in the prepubertal male are responsible for causing precocious pseudopuberty. In the past, orchiectomy has been considered the treatment of choice, but in consideration of the fact that Leydig Cell tumours in children invariably show a benign behaviour, in recent years some authors have suggested a more conservative approach. In the herein reported case, a decision was made to simply enucleate the tumour leaving the testis. After one year, imaging shows a normal testis with no sign of recurrence.

Acute epididymitis and urinary tract anomalies in children.

OBJECTIVES: To evaluate the incidence of urinary tract infection (UTI) and genitourinary malformations in children presenting with acute epididymitis. PATIENTS AND METHODS: Twenty-five children between 2 months and 14 years of age presenting with acute epididymitis underwent urine culture, abdominal ultrasound, voiding cystourethrography and, in selected cases, intravenous pyelography. Eleven patients were infants and 14 were older than 1 year. UTIs and genitourinary malformations were recorded. Fisher's exact test was used to compare the incidence in two age groups. A p value of less than 0.05 was considered significant. RESULTS: Seven UTIs and eight genitourinary malformations were diagnosed in infants, while in older children three UTIs and three malformations were discovered. Infants had a higher rate of associated UTI (p 0.049) and genitourinary malformations (p 0.017) than did older children. CONCLUSIONS: Our data show a close relationship between acute epididymitis in infants for both UTIs and genitourinary malformations. Every infant presenting with epididymitis would undergo a complete evaluation including abdominal ultrasound and voiding cystourethrography. In older children the need for imaging should be dictated by clinical history and physical findings.

[Acute epididymitis in children]. / Le epididimiti acute in età pediatrica.

Fifteen cases of epididymitis in children are reviewed, six of these occurring in children under twelve months of age, and nine in older children. In five of the six cases occurring in infants a U.T.I. and a malformation of the urinary tract were found, while in children over one year only three infections and two urinary malformations were discovered. Authors recommend that in infants under 1 year presenting with epididymitis a thorough investigation of the urinary tract is performed.

[Simple testicular cysts in children. Presentation of a case]. / Cisti testicolare semplice in età pediatrica. Presentazione di un caso.

A case of simple intraparenchymal testicular cyst in a two and half months old child is reported. Dysplastic cysts of the testicle are exceedingly rare, in children only eight such cases have been described in the Literature, all, except one, treated by orchiectomy. In the herein reported case a conservative approach with cyst enucleation and sparing of the residual testicular parenchyma has been satisfactorily employed.

[Scaphoid megalourethra. Description of a case and review of the literature]. / Megalouretra scafoide. Descrizione di un caso e revisione della letteratura.

Authors describe a case of scaphoid megalourethra in a newborn. The child underwent a successful urethroplasty in neonatal period, as described by Nesbitt. In a careful review of the Literature only 47 such cases were found (included the one herein described). Authors discuss etiology, diagnosis and management of this rare malformation and stress the feasibility of an early reconstructive procedure.

[Conservative treatment of esophageal perforation in the newborn infant. Description of a case]. / Trattamento conservativo delle perforazioni esofagee nel neonato. Descrizione di un caso.

A case of oesophageal perforation in a newborn is reported. Authors describe the different clinical pictures due to the various sites of perforation. Authors believe that conservative treatment is satisfactory when applied to most oesophageal perforations and operative approach should be employed only in selected cases and after failure of a trial of non-operative treatment.

[Fibrous polyp of the posterior urethra]. / Polipo fibroso dell'uretra posteriore.

Authors describe a case of fibrous polyp of the posterior urethra, causing complete urinary retention in a five and a half years old boy. On the basis of their own experience and of the data of the Literature Authors discuss etiology, diagnosis and management of this rare anomaly of the urinary tract.

[A case of ectopic vas deferens opening into the bladder]. / Un caso di sbocco ectopico del dotto deferente in vescica.

A case of epididymitis in a two years old boy owing to an ectopic vas deferens opening into the bladder is reported. Only a very few similar cases have been recorded in the world literature.

[Congenital anterior urethral fistulas (author's transl)]. / Le fistole congenite dell'uretra anteriore.

Authors report a case of congenital urethral diverticulum which, in the first days of life, spontaneously fistulized. On the basis of the data reported in the Literature and of their own experience they discuss the etiopathogenesis of these rare types of urethral fistulas.