Two male patients with nevoid basal cell carcinoma syndrome from Turkey.

Nevoid basal cell carcinoma syndrome, also known as Gorlin's syndrome, is a familial autosomal dominant syndrome characterized by multiple basal cell carcinomas, multiple odontogenic keratocysts of the jaws, and skeletal anomalies. Both tumors and malformations of the central nervous system occur with nevoid basal cell carcinoma. Medulloblastoma is the primary brain tumor most frequently associated with this syndrome. The authors report in this article two male patients with nevoid basal cell carcinoma syndrome: a 22-year-old male patient with multiple odontogenic keratocysts, who had medulloblastoma at two years and multiple basal cell carcinoma at 10 years of age, and a 15-year-old male patient with skeletal abnormalities and multiple odontogenic keratocysts in the jaws.     

Evaluating infants and young children with multiple fractures

Infants and toddlers with multiple unexplained fractures are often victims of inflicted injury. However, several medical conditions can also cause multiple fractures in children in this age group. In this report, the differential diagnosis of multiple fractures is presented, and diagnostic testing available to the clinician is discussed. The hypothetical entity "temporary brittle-bone disease" is examined also. Although frequently offered in court cases as a cause of multiple infant fractures, there is no evidence that this condition actually exists.     

Sirenomelia with radial dysplasia

Sirenomelia is a rare anomaly usually associated with other multiple malformations. In this communication the authors report a case of sirenomelia associated with multiple malformations, which include radial hypoplasia also. Though several theories have been proposed regarding the etiology of multiple malformation syndromes in the past, the recent theory of primary developmental defect during blastogenesis holds good in this case.     

Multiple exostotic hypochondroplasia: syndrome of combined hypochondroplasia and multiple exostoses

This is a report of a family with major focus on the daughter who was of short stature. The mother had hypochondroplasia and the father had multiple exostoses. The daughter's skeletal roentgenograms show features of both hypochondroplasia and multiple exostoses. The roentgenographic, clinical and genetic aspects of these skeletal dysplasias are reviewed and hypochondroplasia is contrasted with achondroplasia. The genetic and counseling implications of the association of hypochondroplasia and multiple exostoses are discussed.     

Multiple intracranial aneurysms in a child with congenital cyanotic heart disease

A 10-year-old child with transposition of the great arteries had multiple intracranial aneurysms. The child presented with pyogenic meningitis, and the investigations incidentally revealed numerous aneurysms involving both anterior and posterior circulation arteries. Angiography also revealed multiple fistulae between the internal and external carotid arteries. The child is under observation. The pathogenesis and management strategy of multiple intracranial aneurysms are discussed and the relevant literature is briefly reviewed.     

Childhood multiple sclerosis mimicking acute disseminated encephalomyelitis

Multiple sclerosis is a demyelinating disease affecting people in early to middle adulthood and is uncommon in childhood. Here we report a patient of multiple sclerosis who presented much before 10 years of age with features suggestive of acute disseminated encephalomyelitis and altered sensorium which is quite different from the features of multiple sclerosis in adults. Diagnosis in this patient was made on the basis of predominant white matter involvement with clinically remitting and relapsing course of the disease on follow up over 31/2 years, substantiated by finding multiple areas of demyelinating plaques in magnetic resonance imaging, while visual evoked potential and cerebrospinal fluid study supported demyelination. Hence, children with initial diagnosis of acute disseminated encephalomyelitis need long term follow up as they may develop multiple sclerosis.     

川崎病合并多发体循环动脉病变1例报告并文献复习

目的报告1例川崎病(Kawasaki disease,KD)合并多发体循环动脉病变并复习文献,以提高对该病的认识和临床诊疗水平。方法根据患儿的症状、体征、心脏超声及体动脉B超等检查结果进行诊断,并结合文献资料进行分析。结果女孩,5个月,诊断川崎病合并双侧冠状动脉瘤,符合静脉注射丙种球蛋白(intra-venous immunoglobulin,IVIG)无反应性川崎病诊断标准,体循环动脉B超提示存在多发体动脉病变。结论川崎病合并多发体循环动脉病变较罕见,应提高认识,及时诊断并长期随诊监测病情变化。     

Orthotopic liver transplantation in glucose-6-phosphatase deficiency--Von Gierke disease--with multiple hepatic adenomas and concomitant focal nodular hyperplasia

Von Gierke disease is occasionally complicated by hepatic adenomas (HAs) causing great concern owing to the current difficulties in monitoring them regarding malignant transformation. Orthotopic liver transplantation (OLT) is proposed as a therapeutic tool when multiple HAs and poor metabolic control are present, owing to the lack of a clear-cut criterion to detect early malignant transformation, whether or not associated with growth retardation. Focal nodular hyperplasia (FNH) has never been described together with multiple adenomas in von Gierke disease. We report a 26-year-old woman with von Gierke disease complicated by multiple HAs concomitant with FNH who underwent OLT and is now free from disease symptoms with good long-term outcome. In conclusion, although FNH could have been managed clinically, when multiple adenomas are present, OLT should be planned for some patients, mainly for those with poor metabolic control.     

Image-guided drainage of multiple intraabdominal abscesses in children with perforated appendicitis: an alternative to laparotomy

Background Appendicitis is the most common cause of an acute abdomen in children. With perforation, multiple intraperitoneal collections can be seen at presentation. In this situation, surgical treatment alone is rarely effective. Objective To determine the role of image-guided drainage in treating patients with acute appendicitis complicated by multiple intraabdominal collections. Materials and methods A retrospective review of patient charts and interventional radiology records was performed to identify all patients with acute complicated appendicitis treated by multiple image-guided drainage procedures. Data reviewed included the number of drainages and aspirations performed, drain dwell time, the clinical course and temperature profile, and the length of inpatient hospital stay and any complications experienced. Results The study population comprised 42 children with a mean age of 107.6 months. A total of 100 drainage catheters were inserted and 56 aspirations were performed. Of the 42 children, 24 were successfully treated at a single sitting, while 18 returned for further intervention. The mean drain dwell time was 8.18 days. The mean inpatient stay was 15.02 days. Treatment of the acute presentation with image-guided intervention was successful in 92.3% of children. Conclusion Successful management of acute perforated appendicitis with multiple intraabdominal abscesses can be achieved with multiple minimally invasive image-guided drainage procedures.     

Toward the definition of acute disseminated encephalitis of childhood

PURPOSE OF REVIEW: Acute disseminated encephalomyelitis (ADEM) is a demyelinating disorder most common in childhood and adolescence and thought to have an immune pathogenesis. Some children with ADEM develop additional temporally remote episodes of demyelination with localizations that differ from those of the initial episode and multiple sclerosis is diagnosed. Others have only a single episode. Still others have recurrent episodes in temporal proximity to or with the same localizations as the initial presentation. This review is aimed at delineating what will be required to arrive at a definition of ADEM so as to distinguish it from childhood multiple sclerosis on first presentation. RECENT FINDINGS: All studies to date aimed at differential characterization of ADEM and childhood multiple sclerosis have been retrospective case reviews. Each has examined a different array of historical, physical examination, laboratory, and radiologic characteristics of a differently defined patient population. SUMMARY: Defining ADEM and distinguishing it from multiple sclerosis early in the course of the latter disease depends critically on standardization of prospective, multicenter study design, execution, and data analysis. This has become of paramount importance, as preventive therapies have evolved for recurrent attacks of multiple sclerosis.     

Discrepancies in cytogenetic results between amniocytes and postnatally obtained blood: trisomy 9 mosaicism

When amniocentesis reveals a mosaic karyotype and the baby presents with multiple malformations, an analysis of the baby's peripheral blood typically reveals a mosaic karyotype. We present a boy who was prenatally diagnosed by amniocentesis as having trisomy 9 mosaicisim but who had normal G-banding results on postnatal blood karyotyping; the patient also exhibited multiple malformations, including a diaphragmatic hernia, arthrogryposis, undescended testes, and characteristic facies. Because of the discrepancy between the phenotype and karyotype, we repeated the chromosomal studies on multiple occasions. Interphase FISH performed on abdominal wall muscle tissue revealed a mosaic trisomy 9 karyotype: 47,XY, + 9(159)/46,XY (19). Based on these findings, we finally diagnosed the patient as having trisomy 9 mosaicism and counseled the parents that the risk of recurrence was low. We conclude that it is important to be aware of the possibility that the patient can have a normal postnatal blood karyotype and an abnormal phenotype with multiple malformations when trisomy 9 mosaicism is detected prenatally. When the baby's phenotype is abnormal, karyotyping on multiple tissues is useful for confirming clinical impression as well as determining the prognosis and providing accurate genetic counseling.     

Crossed fused renal ectopia with segmental fusion of bilateral ureters and abdominal aortic anomalies in a patient with caudal regression syndrome.

Caudal regression syndrome consists of multiple congenital anomalies, mainly caudal segment defects. We describe a preterm baby born to a healthy mother with typical caudal regression picture, including imperforated anus with rectovesical fistula, sacral agenesis, multiple rib and vertebral anomalies, and club feet. Crossed fused renal ectopia with fused ureters resulting in urinary obstruction was managed with transureteroureterostomy and cutaneous vesicostomy. We also found a single large umbilical artery with high abdominal aortic insertion which usually presents in sirenomelia. Because of the anatomical diversity of the urinary and cardiovascular systems associated with multiple congenital anomalies, careful evaluation is mandatory.     

Prenatal MRI diagnosis of fetal cerebral tuberous sclerosis

Tuberous sclerosis (TS) is an autosomal dominant phakomatosis. A high percentage of spontaneous mutations leads to the diagnosis of new cases in normal families. This diagnosis is suspected at antenatal ultrasound on the discovery of multiple cardiac tumors. Antenatal cerebral ultrasound shows a normal appearance in affected fetuses. Eight fetuses with multiple cardiac tumors were studied with antenatal MRI with, in five cases, an abnormal appearance showing hyperintense subependymal and cortical nodules on TI-weighted images. Among the three remaining patients MRI was non-contributive in one due to movement artefact, one had abnormal postnatal MRI consistent with TS and one had a normal postnatal and clinical examination. We conclude that MRI is a valuable tool in making the diagnosis of TS in fetuses with multiple cardiac tumors.     

Multiple,symmetrical non-ossifying fibromata without extraskeletal anomalies: Report of two related cases

Two patients, mother and daughter, with multiple, symmetrical, non-ossifying fibromata without extraosseous anomalies are reported. We believe that this is a separate syndrome different from multiple non-ossifying fibromata with extraskeletal anomalies (Jaffe-Campanacci syndrome).     

Multiple synostosis syndrome

A 2-year-old deeply mentally handicapped girl is reported with a multiple synostosis syndrome, as delineated by Maroteaux et al. (1972). Besides the multiple synostoses the peculiar facial dysmorphism and the hearing deficit allow, the clinical diagnosis of this apparently rare syndrome.     

COARCTATION OF THE AORTA WITH MULTIPLE ARTERY ANOMALIES IN IDIOPATHIC HYPERCALCEMIA OF INFANCY

A case of idiopathic hypercalcemia of infancy with multiple anomalies of the arteries is described. This patient demonstrated a combination of supravalvular pulmonary artery stenosis, supravalvular aortic stenosis, hypoplasia of the aortic arch, coarctation of the aorta and multiple stenoses of the branches of the abdominal aorta. The pathogenesis of arterial hypertension in this syndrome is discussed.     

Bilateral spigelian hernia concomitant with multiple skeletal anomalies and fibular aplasia in a child

A child with Spigelian hernia, concomitant multiple skeletal anomalies and whole body hemihypoplasia and fibular aplasia is presented here. Irrespective of the patient's age at presentation, Spigelian hernias associated with anomalies are congenital in origin. This case emphasizes the fact that a bilateral Spigelian hernia can occur in children together with multiple skeletal anomalies.     

Diffuse neonatal hemangiomatosis associated with Simpson-Golabi-Behmel syndrome: a case report.

Diffuse neonatal hemangiomatosis (DNH) is a rare disorder characterized by multiple cutaneous and visceral hemangiomas that usually presents in newborns and has a high mortality rate.While previously reported cases of DNH describe multiple cutaneous hemangiomas, we present a patient with a single hemangioma of the ear, who also had DNH of the central nervous system and visceral organs. Furthermore, in this report we present a new constellation of findings, namely, a Simpson-Golabi-Behmel syndrome (SGBS). The practical implication on the basis of the experience with our patient is the need to ensure adequate diagnostics for patients with large hemangiomas as well as for patients with multiple cutaneous hemangiomas, because DNH also can occur in single hemangiomas in rare cases.     

The rise of multiple births in Brazil

AIM: The aim of this study was to assess the rise in multiple births and its influence on trends of low birth weight (LBW) rates in Porto Alegre, Brazil. METHODS: This is a registry-based study of live births from 1994 to 2005 obtained from the national live birth information system. Chi-square tests for trends were assessed for LBW and multiple birth rates. The impact of multiple births on LBW trends was assessed by sequential modelling, including year and further adjustment for multiple births. Risk factors for multiple births were assessed using the Poisson regression. RESULTS: A total of 263 252 live births were studied. The LBW rate increased from 9.70% to 9.88% (p < 0.001) and the multiple birth rate rose from 1.95% to 2.53% (p < 0.001). LBW rate increased among twins, from 57.14% to 63.46% (p = 0.001). The twin birth rate rose by 24.7%, while the rate of triplets or higher-order increased by 150%. Multiple births may be responsible for 23.9% of the increase in the LBW rate over the period. Mothers with higher levels of schooling, older mothers and mothers delivering in private hospitals were more likely to deliver multiple births. CONCLUSIONS: It seems that both the increase in multiple births and in the LBW among multiple births contributed to this rise in overall LBW rate.     

Multiple Congenital Septal Atresias of the Intestine: Histomorphologic and Pathogenetic Implications

Congenital atresias of the gastrointestinal tract are usually single and divided into three forms on a morphologic basis. The septal or diaphragmatic type (type I) is the least common. We report an infant with multiple type I atresias involving both the small and large intestine and describe the unique histologic features of the septa: (1) fragmentation of muscularis mucosa, (2) multiple septal cysts lined by columnar epithelium, (3) circular and longitudinal muscular layers, and (4) absence of inflammation. This infant had a sibling who died with multiple intestinal atresias of the septal type.