Complete androgen insensitivity syndrome associated with bilateral Sertoli cell adenomas and paratesticular leiomyomas: case report and review of the literature.

BACKGROUND: Complete androgen insensitivity syndrome (CAIS) is a rare and usually unexpected cause of primary amenorrhoea that results from receptor resistance to androgens, producing a female phenotype in genetically male patients. CASE: A 16-year-old girl was diagnosed with CAIS after investigations for primary amenorrhoea. Her left inguinal gonad and the right intra-abdominal gonad were resected and histopathology revealed the presence of dysgenetic multinodular testes with absence of germ cells, significant hyperplasia of Sertoli cells (Sertoli cell adenoma) and presence of paratesticular leiomyomas. CONCLUSION: Although the risk of gonadal tumour development is considered to be low, a variety of tumours have been described in association with CAIS, but this is the first report of development of bilateral paratesticular leiomyomas developing concurrently with Sertoli cell adenomas.

Infantile myofibromatosis of the craniovertebral junction.

Infantile myofibromatosis (IM) is a rare pathological entity characterized by solitary or multiple nodular skin, soft tissues or bony lesions. Craniovertebral (CV) junction lesions are rare. We report the successful management of a solitary IM involving the posterior elements of the CV junction in a 6-month-old child.

Porokeratotic eccrine ostial and dermal duct nevus.

Porokeratotic eccrine ostial and dermal duct nevus is a rare disorder characterized by distinctive histopathology. We describe a 6-year-old boy who had the typical palmar involvement and small discrete areas involving the midline of his back.

Morphological and molecular assessment of apoptotic mechanisms in peripheral neuroblastic tumours.

Multiple defects in apoptotic pathways have been described in peripheral neuroblastic tumours (NTs). Mitosis-karyorrhexis index (MKI) is a reliable morphological marker identifying favourable and unfavourable NTs. The extent to which apoptotic processes contribute to determine the clinical significance of MKI is still undefined. Apoptosis was investigated in a series of 110 peripheral NTs by comparing MKI to immunohistochemical and molecular apoptotic features. High MKI was found in 55 out of 110 NTs (50%) and was associated with advanced stage (P = 0.007), neuroblastoma (NB) histological category (P = 0.024), MYCN amplification (P < 0.001), and poor outcome (P = 0.011). Overall survival probability was 45% in patients with high MKI compared to 73% in patients with low MKI. In the same 110 NTs, the expression of Bcl-2, Bcl-XL, Bax and Mcl-1 was studied by immunohistochemistry, but no significant associations were found with clinicohistological features. Microarray analysis of apoptotic genes was performed in 40 out of 110 representative tumours. No significant association was found between the expression of apoptotic genes and MKI or clinicohistological features. Proliferative activity was assessed in 60 out of 110 representative tumours using Ki67 immunostaining, but no significant correlations with MKI or clinicobiological features were found. In NTs, the combination of apoptosis and proliferation as expressed by MKI is a significant prognostic parameter, although neither of them is per se indicative of the clinicobiological behaviour and outcome.

Hairy polyp of the oropharynx in a newborn: a case report.

An unusual case of an oropharyngeal mass in a neonate causing intermittent airway obstruction during the first 24 hours following delivery is presented. This mass was confirmed to be a hairy polyp. We discuss the incidence, histology and peri-operative management of this unusual lesion.

Ovarian adenocarcinoma in premenarchal girls.

Ovarian neoplasms are unusual in the paediatric age group; the majority of them are of germ cell origin. Malignant epithelial tumours of the ovary occur infrequently in adolescent girls. Ovarian carcinoma in particular is extremely rare before puberty. The authors describe 3 cases of adenocarcinoma of the ovary in premenarchal girls and highlight the unique characteristics of this tumour in this age group.

Partial left ventriculectomy in a two-year-old girl with dilated cardiomyopathy.

We report the case of a two-year-old girl with end-stage dilated cardiomyopathy who was a status I heart transplant candidate. Partial left ventriculectomy and novel mitral valve repair were performed. Early hemodynamic and functional improvements were maintained at the 18-month follow-up.

Endometroid adenocarcinoma of the cervix in a 9-year-old girl.

We present the first reported case of endometroid adenocarcinoma of the uterine cervix in a young girl. The differential diagnosis of a vaginal mass in this age group is usually rhabdomyosarcoma, although other, rarer tumours also occur.

Interphase cytogenetics on paraffin-embedded sections of ovary for detection of genomic constitution in a patient with Turner's syndrome and chromosomal mosaicism.

The difficulty of detecting sex chromosome mosaicism cytogenetically hinders the finding of an acceptable explanation for phenotypic-genotypic discrepancy amongst those patients. Fluorescence in situ hybridization (FISH) permits the genomic identification of patients with mosaic karyotypes in interphase nuclei by utilising an X chromosome-specific DNA probe (interphase cytogenetics). We evaluated the efficiency of interphase cytogenetics in the detection of the genomic constitution of the ovary from a patient with Turner's syndrome having mosaicism (46,XX/45,X0) previously established by blood lymphocyte karyotyping. We used a biotin-labelled alphoid repetitive sequence, pBAMX5, specific for the centromeric region of the human X chromosome. Although examination of ovarian sections and blood lymphocytes by FISH showed the presence of both 46,XX and 45,X0 cell lines, the genomic constitution of the germ cells/oocytes in ovarian primordial follicles was shown to be normal (46,XX). Our results (1) show the high applicability of interphase cytogenetics on paraffin sections, (2) indicate the possibility of genomic screening of different tissues that are otherwise not amenable to routine cytogenetic investigation and (3) offer a reliable methodological approach to defining accurate by the percentage of abnormal karyotypes in mosaicism of different organs and non-dividing tissues.

Coeliac disease and collagenous colitis.

A thirteen and a half year old girl and her father were both investigated because of chronic watery diarrhoea and growth failure or weight loss. Both were diagnosed as having coeliac disease. In the daughter, collagenous colitis was also diagnosed. The father had colonic collagen deposition with inflammatory changes as well. Both improved on gluten-free diets, but colonic collagen deposition persisted.

Coeliac disease and lymphangiectasia.

Two out of 74 children with coeliac disease demonstrated severe intestinal protein loss. In both children a serial small bowel biopsy specimen showed intestinal lymphangiectasia to be also present. Intestinal lymphangiectasia is another disorder that may be associated with coeliac disease.

Bleeding from duodenal lymphangiectasia.

An 8 year old girl with recurrent upper gastrointestinal bleeding was found to have localised duodenal lymphangiectasia by fibreoptic endoscopy. She did not show physical signs or laboratory evidence of significant enteric protein loss. A low fat diet seemed to prevent further bleeding. Duodenal lymphangiectasia may be associated with gastrointestinal bleeding in children.

Diarrhoea caused by collagenous colitis.

The first case of collagenous colitis in a child with protracted watery diarrhoea and abdominal pain is reported. Small bowel investigations and the macroscopic appearances were normal, but histological examination of the colon showed collagenous colitis. Steroids temporarily relieved the diarrhoea and induced transient dissolution of the subepithelial collagen band.