1/28. Complete familial Currarino triad. Report of three cases in one family.The Currarino triad is a unique complex of congenital caudal anomalies including anorectal malformation, sacral bone abnormality, and presacral mass. In this report, the authors describe three cases with the complete Currarino triad in a family. The authors treated a 30-year-old mother with an anterior sacral meningocele, her 1-year-old son with a combination of anterior sacral meningocele and dermoid cyst, and her 4-year-old daughter with an epidermoid cyst. These three patients had associated sacral agenesis and anorectal malformations. To the authors' knowledge, this is the first report describing radiological and operative findings of complete familial Currarino triad in which a mother and her two children were affected.- - - - - - - - - - ranking = 1keywords = family (Clic here for more details about this article) |
2/28. Familial presacral masses: Screening pitfalls.BACKGROUND/PURPOSE: Anterior sacral meningocele (ASM) and presacral teratoma (PT) are related malformations. Both can have familial occurrence. Surgical treatment of occult cases is essential. Hence, it is important to screen the asymptomatic relatives. Plain radiograph of the sacrum to look for any bony abnormalities is the usual accepted screening modality. The authors report ASM and PT in siblings (with positive family history) with no sacrococcygeal bony abnormality on imaging. Both the siblings had presacral mass on imaging. methods: The medical records of 2 siblings with ASM and PT were reviewed for the clinical presentation, diagnostic workup, and family history. RESULTS: One sibling was symptomatic, whereas the other was completely asymptomatic. A family history of sacral bony abnormalities and anterior meningoceles was present in father, 2 paternal cousins, paternal uncle, paternal aunt, paternal grandmother, and paternal grand uncle. CONCLUSIONS: These case reports suggest that imaging for screening for ASM and PT should be directed at identifying the presacral mass rather than sacral bony defect. Hence, computed tomography or magnetic resonance imaging looking for presacral mass rather than plain radiograph should be the screening modality. J Pediatr Surg 36:1841-1844.- - - - - - - - - - ranking = 0.6keywords = family (Clic here for more details about this article) |
3/28. Is it more than just constipation?We report an infant presenting with constipation, whose history and physical examination initiated the investigation that led to the diagnosis of the Currarino triad in the proband and 2 other family members.- - - - - - - - - - ranking = 0.21174371194433keywords = family, member (Clic here for more details about this article) |
4/28. Bacterial meningitis secondary to a transethmoidal encephalocele presenting to the emergency department.We present the case of a patient seen in the Emergency Department (ED) at the height of enteroviral meningitis season with the chief complaint of the worst headache of his life. He was subsequently found to have pneumococcal meningitis as the result of an encephalocele located within the left ethmoid sinus. The key features of the patient's past medical history, the steps to diagnosis, and a discussion of this exceedingly rare entity are detailed.- - - - - - - - - - ranking = 0.0014869150882887keywords = life (Clic here for more details about this article) |
5/28. Currarino triad with dual pathology in the presacral mass: report of a case.PURPOSE: Currarino triad, which comprises anorectal stenosis, anterior sacral defect, and a presacral mass, is an uncommon cause of constipation in children and adults. The presacral mass in this triad is most often caused by an anterior sacral meningocele, a teratoma, or an enterogenous cyst, but rarely may be caused by dual pathology. A neonate with Currarino triad and dual pathology in the presacral mass is described in this report. METHOD: A male Chinese neonate, who presented with abdominal distention and constipation on the second day of life, was found to have features of Currarino triad. colostomy was done in the neonatal period, and the presacral mass was excised by posterior sagittal perineal approach at the age of six months. RESULTS: The excised presacral mass consisted of an anterior meningocele and a teratoma. The patient continued to have constipation during follow-up and required anorectoplasty to correct residual anorectal stenosis. At the time of this report the patient was three years old and growing normally with normal anorectal function. DISCUSSION: Of a total of about 200 cases of complete Currarino triad found in the literature, in only 22 patients did the presacral mass contain both meningocele and teratoma. The features of these 22 patients and the current views on the surgical management of Currarino triad are discussed.- - - - - - - - - - ranking = 0.0014869150882887keywords = life (Clic here for more details about this article) |
6/28. Currarino syndrome: proposal of a diagnostic and therapeutic protocol.BACKGROUND/PURPOSE: The Currarino syndrome (CS) is a peculiar form of caudal regression syndrome (CRS) characterized by the association of hemisacrum, anorectal malformation (arm), and presacral mass. The authors analyzed retrospectively their series, and they propose a multidisciplinary diagnostic and therapuetic protocol that until now has not been introduced. methods: A series of 6 patients with CS is presented. Five of them were treated initially in other centers. None of them had an early diagnosis. All presented associated anomalies; in 50%, Hirschsprung's disease (HD) and other dysganglionoses were present. One patient died of a presacral ectopic nephroblastoma. RESULTS: Depending on the expressivity, 3 types of CS can be identified, complete, mild, and minimal. Dysganglionoses and HD can be considered part of CS. A multidisciplinary diagnostic and therapeutic protocol is presented. Main points are sacrum x-Ray, molecular genetic diagnosis, radiologic evaluation of every member of CS families, magnetic resonance (MR) evaluation of patient spine and pelvis, suction rectal biopsies, and search for associated anomalies. CONCLUSIONS: This protocol could give a valid contribution to the treatment of CS, allowing an early diagnosis and proposing a rational timing of multidisciplinary surgical procedures. early diagnosis and treatment are essential to avoid morbidity and mortality from an undiagnosed presacral mass.- - - - - - - - - - ranking = 0.011743711944334keywords = member (Clic here for more details about this article) |
7/28. Rhabdomyomatous mesenchymal hamartoma associated with nasofrontal meningocele and dermoid cyst.A 1-year-6-month-old girl presented with a subcutaneous tumor of the forehead, which had developed since birth. The preoperative examinations showed nasofrontal bone defect with meningocele and subcutaneous tumor with cyst. The patient underwent excision of the tumor and reconstruction of the bone defect. Histologically, the skin tumor exhibited disordered arrangement of striated muscle fibers among normal dermal components, and the cyst was lined by cornified epithelium with a few hair adnexa and contained lamellated keratin. These findings were consistent with rhabdomyomatous mesenchymal hamartoma (RMH) and dermoid cyst. This is an interesting case of RMH co-existing with nasofrontal meningocele and dermoid cyst in the same area. We suggest embryologic errors as a possible etiology, which is incomplete dysjunction of the neural ectoderm from the cutaneous ectoderm. Failure of insertion of mesoderm between the ectoderms caused the bone defect and the disordered proliferation and differentiation of mesoderm-derived tissue, leading to formation of hamartoma.- - - - - - - - - - ranking = 0.0014869150882887keywords = life (Clic here for more details about this article) |
8/28. Presacral meningocele associated with hereditary sacral agenesis and treated surgically: evaluation in three members of the same family.OBJECTIVE AND IMPORTANCE: Presacral meningocele in hereditary sacral agenesis is a complex and unusual spinal dysgenetic syndrome. Recognition of the syndromic triad, its natural history, and familial presentation has important practical applications for the management of this disease as well as its complications. CLINICAL PRESENTATION: This report concerns three patients in one family with Currarino syndrome. We detail its clinical presentation, operative management, and outcome and suggest management procedures based on reports in the literature and the results of our surgical techniques, which focus on cases with an "incomplete" triad. INTERVENTION: Three members of the same family, one adult and two children, underwent surgery through the posterior sacral approach tying off the communication between dural sac and anterior meningocele. The adult underwent a second surgical procedure in which a custom-designed surgical technique was used to resolve postoperative cerebrospinal fluid leakage. One of the children underwent an additional posterior sagittal anorectoplasty to remove a presacral teratoma. CONCLUSION: We report a rare occurrence of three familial cases of sacral agenesis accompanied by a presacral mass with various degrees of phenotypic expression and with male dominant transmission. Because of its rarity, the best surgical technique and timing remain an open question especially in cases with incomplete triad syndrome.- - - - - - - - - - ranking = 1.2587185597217keywords = family, member (Clic here for more details about this article) |
9/28. "Like mother, like son:" hereditary anterior sacral meningocele. Case report and review of the literature.Anterior sacral meningocele (ASM) is a relatively rare, congenital disorder. Usually it presents sporadically, but there are case reports of hereditary ASMs and evidence of a dominant mode of inheritance. In this article the authors describe a case illustrating the hereditary nature of ASM and present available literature on the disease. The authors present the case of a 19-month-old boy in whom an ASM was diagnosed during a workup for constipation. The child's 31-year-old mother had been treated for the same condition 20 years earlier, when she had presented with back pain. These cases are discussed in the context of previous reports of similar cases. There are several case reports in the literature in which an ASM occurred as a familial, isolated disorder (in the absence of other caudal abnormalities or syndromes). The condition is reported more commonly in women, but it is unclear whether this is a true difference in prevalence or a diagnosis or reporting bias. A review of the literature indicates an autosomal-dominant inheritance with variable penetrance and presentation. Anterior sacral meningoceles can be hereditary. Given the potential complications of the disease if left untreated and the simplicity of screening--obtaining an abdominal radiograph and the patient's clinical history--we recommend screening of immediate family members of affected individuals. Surgical treatment is recommended if an ASM is discovered.- - - - - - - - - - ranking = 0.21174371194433keywords = family, member (Clic here for more details about this article) |
10/28. Autosomal dominant atretic cephalocele with phenotype variability: report of a Brazilian family with six affected in four generations.Atretic cephalocele is a clinicopathological entity, which is different from the common form of cephalocele. Its etiopathogenesis has not been completely explained and there are only two previous reports of familial recurrence. We report a Brazilian family with autosomal dominant inheritance with variable expressivity.- - - - - - - - - - ranking = 1keywords = family (Clic here for more details about this article) |
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