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Primary small cell carcinoma of the breast (SCCB) is a rare tumor subtype comprising

Methicillin-resistant Staphylococcus aureus (MRSA) has been now recognized as major pathogen in adults and children, causing a variety of infections including osteomyelitis. Deep venous thrombosis in children with S. aureus osteomyelitis occurs rarely. Two siblings of a Saudi family who acquired MRSA bacteremia and osteomyelitis concurrently are described in this report. The second patient had an invasive infection characterized by bacteremia, multifocal osteomyelitis and septic arthritis complicated by deep venous thrombosis of the left popliteal vein, necessitating anticoagulant treatment with heparin. To my best knowledge, such simultaneous occurrence of MRSA bacteremia and osteomyelitis affecting two family members has not been reported. Also, deep venous thrombosis complicating osteomyelitis is rare and has not been reported from this region of the world.

Background. We report a rare case of synchro- nous occurrence of thyroglossal duct cyst carcinoma and thy- roid carcinoma and discuss its management in detail. Methods. A 59-year-old woman was clinically diagnosed to have a thyroglossal duct cyst and a solitary nodule. Fine-nee- dle aspiration cytology revealed a papillary carcinoma in the thyroglossal duct cyst and a colloid in the thyroid nodule. Sis- trunk's procedure along with a total thyroidectomy was per- formed followed by postoperative radioiodine ablation. Results. Histopathologic examination revealed thyroglossal duct cyst carcinoma and bilateral foci of papillary carcinoma in the thyroid gland. She has remained free of disease on fol- low-up. Conclusion. Most cancers arising in thyroglossal duct cysts are of low risk, and Sistrunk's procedure is an adequate treat- ment for such cancers. However, for synchronously occurring cancers of the thyroglossal duct cyst and thyroid gland, or high-risk thyroglossal duct cyst cancers, more aggressive treatment comprising total thyroidectomy, Sistrunk's procedure, and radioiodine therapy is indicated. V C 2009 Wiley Periodicals, Inc. Head Neck 31: 1387-1391, 2009

The presence of hydrometrocolpos and postaxial polydactyly in a neonate can be caused by two genetic conditions; namely, McKusick-Kaufman syndrome and Bardet-Biedl syndrome. There are no distinct clinical features that allow discrimination between the two syndromes, as the cardinal features of rod-cone dystrophy, obesity, learning disability and renal dysfunction in Bardet-Biedl syndrome are age dependent. McKusick-Kaufman syndrome is characterized by vaginal atresia with hydrometrocolpos, postaxial polydactyly and congenital heart defect. Here we report an unusual presentation of Bardet-Biedl syndrome: a neonate born in a consanguineous family having an older sibling diagnosed with Bardet-Biedl syndrome presenting with postaxial polydactyly and vaginal atresia; the latter causing hydrometrocolpos, hydronephrosis and renal failure. Relief of urinary obstruction by exploratory laparotomy and aspiration of fluid, and vaginal reconstruction gradually reversed the hydronephrosis and renal failure. The patient developed end-stage renal failure towards the end of her first decade, possibly due to underlying renal pathology associated with Bardet-Biedl syndrome.

O 6-alkylguanine-DNA alkyltransferase (AGT) protects from the mutagenic and toxic lesions induced by 1,3-bis(2-chloroethyl)-1-nitrosourea (BCNU), and in many tumors, AGT overexpression provides a means of resistance. To circumvent this, O 6-benzylguanine, an inactivator of AGT, has been developed and is currently in clinical development with BCNU; however, the potential long-term toxicities associated with this treatment are unknown. With the inactivation of AGT by O 6-benzylguanine, a higher number of toxic and mutagenic O 6-alkylguanine lesions introduced by methylating or chloroethylating agents would be expected. In this study, cohorts of mice were treated with vehicle, O 6-benzylguanine (30 mg/kg), BCNU alone (low dose of 15 mg/kg or high dose of 50 mg/kg), or O 6-benzylguanine (30 mg/kg) plus BCNU (15 mg/kg) and followed for 12 months post-treatment. Mice treated with O 6-benzylguanine plus BCNU or high-dose BCNU died significantly earlier ( p < 0.0001) than mice in the other three cohorts with a median survival of 8.3 ( O 6-benzylguanine plus BCNU) and 7.9 months (high-dose BCNU). Histopathologic sections of tissues revealed that the most common morphological diagnosis in animals treated with O 6-benzylguanine plus BCNU (15 mg/kg) or BCNU (50 mg/kg) was cytomegaly in the lung with greater severity observed in mice receiving the combination O 6-benzylguanine plus BCNU. Four of five mice analyzed in this cohort had alveolar histiocytosis, with one also having alveolar edema. In contrast, liver and kidney toxicity was only observed in mice treated with BCNU (50 mg/kg). These results suggest that O 6-benzylguanine enhances long-term pulmonary toxicity associated with BCNU in mice.

This is an unusual case of isolated bilateral zygomatic complex and arch fracture, which is extremely rare. The literature has no such report of a case.

SummarySevere neonatal hypoglycaemia in five Saudi Arab infants of both sexes belonging to two families of consanguineous parents is reported. All of these infants needed sub-total pancreatectomy to maintain normoglycaemia. Histopathological studies with immunohistochemistry proved diffuse nesidioblastosis of the pancreas in all five infants. Data obtained from these families and other families reported in the literature strongly suggest that familial nesidioblastosis is an autosomal recessive disorder. Knowledge of the inheritance pattern is important both for genetic counselling and for making a prompt diagnosis in subsequently affected siblings, as delay in appropriate treatment may have serious consequences.

Background: The incidence of type 1 diabetes has been increasing all over the world including Saudi Arabia and environmental factors have been suggested to play an important role in its etiology. Objective: The aim of this study was to evaluate if there are any contributory roles of various environmental factors in the rising incidence of type 1 diabetes in children in the Eastern Province of Saudi Arabia. Methods: We conducted a retrospective study of Saudi Arab subjects (n = 119) diagnosed between 1980 and 2009 with type 1 diabetes and these subjects were classified to six groups on the basis of the onset of diabetes. Results: 119 subjects (61 boys and 58 girls) with confirmed diagnosis of type 1 diabetes met the study eligibility criteria. 89 children (74%) presented with ketoacidosis. The mean age of onset was 4 3/4 years for Group II and age of onset increased to above 8 years on subsequent years. Excessive weight gain was noted in all study groups. No etiological influences of maternal age at birth, birth order, birth weight, early introduction of cow's milk and cereals, infections and vaccines as well as nitrate levels in drinking water were noted in any of the groups. The predicted doubling of diabetes in young children below 5 years as in previous studies was not found in our study. Conclusions: The rising incidence of type 1 diabetes over the last 30 years is not proved to have been influenced by various environmental factors.

Hirschsprung's disease (HSCR) is a developmental disorder characterized by the absence of enteric neurons in distal segments of the gut. Though HSCR is isolated (nonsyndromic) in most cases, its association with chromosomal aberrations, some congenital anomalies, and a few syndromes has been documented. We report the association of HSCR with Bardet-Biedl syndrome in 2 siblings born to consanguineous Saudi Arabian parents. Both cases were diagnosed during the neonatal period. The first patient had the severe variety of the disease with aganglionosis involving the entire colon and terminal ileum. He died of postoperative complications. The second child had a limited short segment variety of HSCR. For social reasons, the surgical intervention was done only at 5 years of age with no documented complications.

Objective: To evaluate the outcome of neonates and infants with persistent hyperinsulinemic hypoglycemia of infancy (PHHI) who had undergone 95% pancreatectomy, with special emphasis on development of diabetes mellitus (DM). Methods: Ten infants diagnosed according to the established criteria of PHHI, and who had undergone 95% pancreatectomy, were followed for a period ranging from 1-20 years (mean 13 4 / 1 2 years). A retrospective analysis of their data was carried out with special emphasis on growth and development, glycemic control, neurological status and school performance. The data on weight, glycemic control and daily insulin requirement were compared with a control group of ten children with type 1 DM (DM1), matched for age and sex. Results: All ten children ultimately developed DM; three of them immediately following pancreatectomy and the remainder after a variable period ranging from 7 1 / 4 -11½ years (mean: 8 1 1 / 1 2 years). Data on their weight, HbA 1 c levels and daily insulin requirements when compared to ten children with DM1 showed no statistically significant difference in these biological variables. All the children, with the exception of one who sustained subarachnoid hemorrhage, cerebral edema and seizures in the neonatal period, were neurologically and developmentally normal. None exhibited clinical manifestations of pancreatic exocrine deficiency. Conclusion: 95% pancreatectomy is an effective treatment modality in PHHI not responding to medical treatment. In our experience; recurrence of hypoglycemia following surgery is uncommon and responds well to medical treatment. There is a high risk of secondary DM in these children; however, the serious risk of brain damage and neurological abnormalities could be avoided by early surgical intervention. Children in this study did not show any signs or symptoms of malabsorption.