El llamado síndrome de alienación parental y sus derivaciones / The so-called parental alienation syndrome and its derivations

La denigración de un progenitor por el otro es uno de los efectos más dañinos para el menor en situaciones de ruptura familiar, si bien el llamado síndrome de alienación parental (Gardner) como supuesto trastorno mental infantil, no ha obtenido la aceptación en las clasificaciones psiquiátricas internacionales, ni la necesaria validez y soporte científico, por lo que profesionales de la salud mental, peritos y juristas deberían evitar su empleo. En su lugar, cabe valerse de los criterios diagnósticos contemplados por las clasificaciones psiquiátricas diagnósticas internacionales que describimos. Es esencial establecer el diagnóstico diferencial a partir del síntoma del rechazo hacia un progenitor, cuestión que entraña dificultad y que puede requerir el concurso de un equipo multidisciplinar para valorar adecuadamente todos los aspectos evaluables. Los profesionales han de obrar con conocimiento de los límites de su ciencia, aportando aquellos datos y conclusiones que sean legítimos y válidos según tal premisa. (AU)

The denigration of one parent by the other would be one of the most damaging effects for the child in situations of family breakdown, although the so-called parental alienation syndrome (Gardner) as a supposed childhood mental disorder, has not obtained acceptance in psychiatric classifications nor the necessary validity and scientific support, so its use by mental health professionals, experts and lawyers should be avoided. Instead, one can use the diagnostic criteria contemplated by the international diagnostic psychiatric classifications that we describe. It is essential to establish the differential diagnosis based on the symptom of rejection of a parent, an issue that involves difficulty and may require the assistance of a multidisciplinary team to adequately evaluate all the evaluable aspects. Professionals must act with knowledge of the limits of their science, providing those data and conclusions that are legitimate and valid according to this premise. (AU)

Torpedo-like lesions in the ocular fundi of Gardner syndrome: hiding in plain view.

Background: The coexistence of fundus torpedoes and Gardner syndrome was initially reported in 1989 and 1992 by Gass and Roseman. Gardner syndrome is a dominantly inherited disease characterized by a multitude of potentially lethal gastrointestinal polyps. Over the ensuing quarter century, several publications demonstrated uncommon, but easily recognized, fundus lesions called Torpedo Maculopathy in apparently normal individuals. These fundus abnormalities were thought to be single and isolated without systemic associations. During the same period of time, a variety of nonspecific fundus abnormalities were described in Gardner syndrome, which, in retrospect, included highly specific lesions that closely resembled macular torpedoes and sometimes were indistinguishable from them.Patient and methods: We now report a confirmed case of Gardner syndrome with numerous fundus torpedoes, and carefully analyze the voluminous literature of both Gardner syndrome and Torpedo Maculopathy.Results: We demonstrate shared features of the fundus lesions in both diseases, and hypothesize that they may have genetic as well as ophthalmoscopic similarities in common.Conclusions: We therefore recommend that individuals with classic isolated torpedoes undergo evaluations for mutations in the Gardner gene (Adenomatous polyposis coli) and for the presence of gastrointestinal polyps and other systemic features of Gardner syndrome. We also suggest that apparently normal individuals, who are genetically related to patients with known classic torpedoes, undergo inspection of their fundi for the possible presence of characteristic lesions.

Gardner-associated fibroma of the neck: role of a multidisciplinary evaluation for familial adenomatous polyposis diagnosis.

INTRODUCTION: Familial adenomatous polyposis (FAP) is a hereditary autosomal dominant disorder characterized by the development of multiple adenomas in the colon and rectum with a lifetime risk of 80%-100% to develop colorectal cancer if undetected or untreated. Gardner-associated fibroma (GAF) is a rare, benign soft tissue lesion with uncertain pathogenesis. GAF is generally associated with FAP in its clinical variant, called Gardner syndrome (GS). CASE DESCRIPTION: A 16-year-old boy with no comorbidities and no significant medical history was referred to the Unit of Hereditary Digestive Tract Tumours, Department of Surgery, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy, for genetic counselling after surgical removal of a right anterior cervical paramedian fibroma. The histopathology on the specimen led to the diagnosis of GAF. He had no family history for colorectal cancer or gastrointestinal polyposis and denied any gastrointestinal symptoms. Physical examination showed a small frontal osteoma and colonoscopy showed the presence of multiple small sessile polyps (>100 polyps, diameter <5 mm) diffusely present on the large bowel. Genetic testing revealed a pathogenic germline variant in the APC gene. The predictive genetic test on the patient's parents and sister was negative for the identified APC mutation; therefore, the patient carried an apparent de novo germline mutation. CONCLUSIONS: GAF may represent a sentinel sign of FAP, preceding gastrointestinal symptoms and endoscopic findings. A careful multidisciplinary approach is determinant for correct and early diagnosis of FAP.

Gardner syndrome with giant abdominal desmoid tumor during pregnancy: a case report.

BACKGROUND: Gardner syndrome is a subtype of familial adenomatous polyposis (FAP), characterized by a combination of adenomatous intestinal polyps and extracolonic lesions such as multiple osteomas, dental abnormalities, and soft tissue tumors. Although 12% of patients with intestinal polyposis of FAP may occur intra-abdominal desmoid tumors, pregnancy complicating with giant abdominal desmoid tumors is a relatively rare case. CASE PRESENTATION: A 28-year-old pregnant woman was diagnosed with Gardner syndrome in whom an intra-abdominal tumor was found a year after undergoing a laparoscopic total colectomy due to family adenomatous polyposis. At 32 weeks' gestation, she presented to our department for the third time complaining upper abdominal pain caused by the giant abdominal mass about 21 × 12 cm2 in size. After multidisciplinary consultation and discussion, the decision of fetal preservation treatment was made. After the delivery of a baby girl, abdominal mass resection was performed, and pathological examination revealed a fibrous adenoma. The patient was discharged after a week and was uneventful in the follow-up for half a year. CONCLUSIONS: Gardner syndrome is characterized by typical syndrome including family adenomatous polyposis and extra-intestinal tissue tumor. Were desmoid tumors rarely as large as fetus and local aggressively. In our case, we selected surgery to remove the intra-abdominal desmoid tumor after the natural delivery of the fetus and no abnormalities were observed during the 6 months follow-up. Women during pregnancy have an increased risk for the development of desmoid tumors, likely with the sex hormone to be one of the triggers. Therefore, we suggested that when a patient with Gardner syndrome desire to conceive again, they should go to the hospital for a regular review at least once every 3 months.

[Familial adenomatous polyposis, desmoid tumors and Gardner syndrome]. / Polypose adénomateuse familiale, tumeurs desmoïdes et syndrome de Gardner.

About 15 % of patients with familial adenomatous polyposis "PAF" develop one or more desmoid tumors in their lifetime. These are benign mesenchymal tumors with local aggressivity but with no potential for metastases. Most of the desmoids tumors result from a sporadic genetic anomaly in the ß catenin gene. When related to familial adenomatous polyposis or "PAF", this mutation is not present, and the patients must be sent in genetic counselling. The PAF is a dominant autosomic illness related to a germinal mutation in the APC gene. Sometimes, these tumors can be the first manifestation of the illness. The diagnosis in a context of PAF can be easily done by imaging, but a pathological confirmation is needed. These tumors raise a therapeutic problem because of their heterogeneity and the absence of predictive biomarkers along illness evolution. The identification of prognostic biological and clinical factors would make easier the selection of patients requiring first-line treatment, as spontaneous remissions have also been observed in patients with FAP whom which an active surveillance could also be a valid therapeutic option. The particularity of desmoids tumors associated to PAF lies in their predominantly intra-abdominal location and the risk of complication. In the last ten years, surgery has largely given way to conservative treatments such as chemotherapy and more recently to tyrosine kinase inhibitors that have shown their efficacy with a significant improvement in progression-free survival of patients.

[Gardner's syndrome, a rare disease]. / Gardner-syndroma, avagy amikor a raritások "kopogtatnak az ajtón".

Introduction: Gardner's syndrome is a clinical subgroup of Familial Adenomatosus Polyposis, arare, autosomal disease. It is characterized by gastrointestinal polyps and extra-intestinal manifestations including multiple osteomas, skin and tissue tumours. The authors describe a case of a male patient, and discuss the diagnosis, treatment and follow-up of patients with Gardner's syndrome. We conclude that the knowledge of rare syndromes is very important for the correct treatment.

Quiste epidermoide cutáneo con células sombra: a la búsqueda de un síndrome polipósico / Shadow cells in a cutaneous epidermoid cyst: searching for a polyposis syndrome

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[Turcot syndrome and Gardner's syndrome in a female patient with familial colon adenomatosis. A case report and literature review]. / Sindrom Tiurko, sindrom Gardnera u patsientki s semeinym adenomatozom tolstoi kishki. Klinicheskoe nabliudenie i obzor literatury.

Turcot syndrome is a rare hereditary syndrome characterized by a combination of brain tumors and colorectal cancer. According to the literature, about 150 such cases have been reported. This article presents a rare clinical case and a literature review.

Gardner syndrome with maxillofacial manifestation: A case report.

Gardner syndrome is a hereditary disease in which patients develop gastrointestinal polyps, osteomas, desmoid tumors, epidermoid cysts, fibromas, lipomas, and retinal lesions. Dental abnormalities such as supernumerary or impacted teeth, odontomas and dentigerous cysts are also reported. The most serious concern in this syndrome is the extremely high risk of gastrointestinal polyps undergoing malignant transformation. Since the maxillofacial findings usually precede gastrointestinal polyps, the dentist plays a crucial role in the diagnosis of Gardner syndrome, and panoramic radiography is an important tool in the diagnosis of the disease. We report here a case of Gardner syndrome in a patient showing mandibular osteomas and impacted teeth. Also, cases of Gardner syndrome with maxillofacial manifestations reported in the literature were reviewed and compared with ours. According to the findings, osteomas are important manifestations of this syndrome, and regardless of the absence of family history of intestinal polyposis, their occurrence should prompt diagnostic evaluation for this disease.

Bone and dental abnormalities as first signs of familial Gardner's syndrome in a Chinese family: a literature review and a case report.

Gardner's syndrome (GS) is an autosomal dominant disease characterized by the presence of familial adenomatous polyposis (FAP) as well as extraintestinal manifestations such as osteomas, dental anomalies, epidermoid cysts and ocular abnormalities. These intestinal polyps carry a 100% risk of malignant change, so early diagnosis is crucial. As craniofacial osteomas and dental anomalies of GS usually precede gastrointestinal symptoms, otolaryngologists, oral surgeons and dentists play an important role in the diagnosis of GS. GS is extensively reported in literature in the Caucasian race but not in the Mongoloid race. We report a case of a 22-year-old patient with a manifestation of three features of GS - multiple osteomas, soft tissue tumors and dental anomalies in the craniofacial region, with no intestinal polyps at the time of reporting. A family pedigree with our patient as the proband was constructed and revealed 3 consecutive generations in his lineage with GS.

[Familiar adenomatous polyposis: report of 2 cases]. / Poliposis adenomatosa familiar: a propósito de 2 casos.

Familial Adenomatous polyposis (FAP) it is based on an autosomal dominant mutation which results in loss of function of theAPC tumor suppressor gene. On the other hand, Gardner syndrome is a type of FAP and is characterized for multiple colonic adenomatous polyps and extracolonic abnormalities as desmoid tumors, osteomas, lipomas, dental abnormalities, dermoid cysts and duodenal adenomas. This report aims to present two patients with FAP: The first one is a patient who presented with osteomas and hematochezia, being diagnosed with Gardner Syndrome after the colonoscopy. The second patient has a family history of colon cancer, who is diagnosed with FAP with tubular adenocarcinoma. We decide to report both cases due to the absence of previous reports in Peru.

Poliposis adenomatosa familiar: a propósito de 2 casos / Familiar Adenomatous Polyposis: Report of 2 Cases

La poliposis adenomatosa familiar (PAF) se basa en una mutación autosómica dominante de pérdida de la función en el gen supresor tumoral APC. El síndrome de Gardner es un tipo de PAF y está caracterizado por múltiples pólipos adenomatosos colónicos además de anormalidades extracolónicas como tumores desmoides, osteomas, lipomas, anormalidades dentales, quistes dermoides y adenomas duodenales. Este reporte tiene como propósito presentar dos casos referentes a PAF. El primer caso, trata de un paciente con osteomas e historia de hematoquezia, con diagnóstico de sindrome de Gardner posterior a la colonoscopia. El segundo caso es un paciente con historia familiar de cáncer de colon, que al examen colonoscópico se le diagnostica PAF con adenocarcinoma tubular bien diferenciado. Se decide reportar los casos debido a que son los primeros reportes en el Perú sobre esta entidad

Familial Adenomatous polyposis (FAP) it is based on an autosomal dominant mutation which results in loss of function of the APC tumor suppressor gene. On the other hand, Gardner syndrome is a type of FAP and is characterized for multiple colonic adenomatous polyps and extracolonic abnormalities as desmoid tumors, osteomas, lipomas, dental abnormalities, dermoid cysts and duodenal adenomas. This report aims to present two patients with FAP: The first one is a patient who presented with osteomas and hematochezia, being diagnosed with Gardner Syndrome after the colonoscopy. The second patient has a family history of colon cancer, who is diagnosed with FAP with tubular adenocarcinoma. We decide to report both cases due to the absence of previous reports in Peru

The importance of early diagnosis of gardner's syndrome in dental examination.

Gardner syndrome (GS) is a rare genetic disorder. Dentists play an important role in diagnosis considering that craniomaxillofacial osteomas are a major criteria for GS. We report a 26-year-old male patient who referred to our department with toothache. On routine panoramic radiographic examination, multiple radiopaque masses were detected incidentally. In addition, on extraoral examination, a soft tissue tumor was detected on his shoulder. The patient was referred to the gastroenterology department and intestinal polyps were detected in the colon. Histopathology report revealed malignant changes in the intestinal polyps. Early colectomy, which is a life-saving operation, was possible because of our early diagnosis.

Solitary Peripheral Osteoma of the Hard Palate Case report and literature review.

Osteomas are benign slow-growing osteogenic lesions of unknown aetiology which can be central, peripheral or extraskeletal. Peripheral osteomas of the maxilla are very uncommon. We report a 72-year-old female patient who presented to the Department of Oral & Maxillofacial Surgery, Dental School of Athens, Athens, Greece, in 2015 with swelling of the palate following a tooth extraction. Clinical and radiographical features were indicative of a solitary peripheral osteoma of the hard palate. An excisional biopsy and histological examination of the lesion confirmed the diagnosis. No complications occurred during the postoperative period and there was no evidence of recurrence at a one-year follow-up.

[Ectopic craniopharyngioma and Gardner's syndrome: Case report and literature review]. / Craneofaringioma ectópico y síndrome de Gardner: a propósito de un caso y revisión de la literatura.

INTRODUCTION: Craniopharyngioma accounts for around 3% of all primary tumours of the central nervous system. It is usually located in the suprasellar region, although it may also have an ectopic location. CASE REPORT: The case is presented on 29 year-old male who underwent surgery for a jaw osteoma when he was 19 years old and was subsequently diagnosed with Gardner's syndrome. He was admitted in our Hospital with right facial paresis and diplopia of one day onset. The examination showed mild right VII and VI cranial nerves paresis. Magnetic resonance imaging of the brain demonstrated a rounded solid and cystic lesion with well-defined contours of about 2cm in diameter filling the fourth ventricle. The patient underwent a posterior fossa craniotomy using a telovelar approach with complete removal of the tumour implanted at roof level of the fourth ventricle. The final histology of the tumour was reported as adamantinomatous craniopharyngioma. CONCLUSION: Craniopharyngioma may appear in another location other than the suprasellar region. Its atypical location may be related to Gardner syndrome by still unknown pathogenic mechanisms.