Primary Diffuse Large B-Cell Lymphoma in a Patient with Rubinstein-Taybi Syndrome: Case Report and Review of the Literature.

BACKGROUND: Rubinstein-Taybi syndrome (RSTS) is a rare, congenital syndrome that is known to be associated with neoplasms of various organ systems. Evaluation and treatment of such patients is challenging, given the cognitive delay and heterogeneity of pathologic presentations that define this syndrome. CASE DESCRIPTION: Presented here is a case of a patient with RSTS, diagnosed at birth, who presented with subtle symptoms of lethargy and a change in behavior. He was found to have a large (7.0-cm × 4.7-cm), right-sided brain mass that was eventually diagnosed as a primary central nervous system lymphoma. CONCLUSIONS: To the best of our knowledge, this is the first reported case of a primary central nervous system lymphoma presenting in a patient with RSTS. This was confirmed through microscopic and histologic studies. The large size attained by this mass in our patient highlights the increased scrutiny and surveillance needed to provide the best care for these patients. A multidisciplinary team approach is ideal as successful treatment of our patient using surgical debulking, appropriate chemotherapy, and close postoperative follow-up has resulted in an excellent clinical outcome.

Anesthetic management for thoracic surgery in Rubinstein-Taybi syndrome / Manejo anestésico en cirugía torácica en el síndrome de Rubinstein-Taybi

Rubinstein-Taybi syndrome (RTS) is a chromosomopathy associated to molecular mutations or microdeletions of chromosome 16. It has an incidence of 1:125,000-700,000 live births. RTS patients present craniofacial and thoracic anomalies that lead to a probable difficult-to-manage airway and ventilation. They also present mental retardation and comorbidity, such as congenital cardiac defects, pulmonary structural anomalies and recurrent respiratory infections, which increase the risk of aspiration pneumonia. Cardiac arrhythmias have been reported after the use of certain drugs such as succinylcholine and atropine, in a higher incidence than in general population. There is an increased risk of postoperative apnea-hypopnea in these patients. We report the anesthetic management in a RTS patient undergoing emergent thoracic surgery due to oesophageal perforation and mediastinitis. Lung isolation was achieved with a bronchial blocker guided with a fiberoptic bronchoscope and one-lung ventilation was performed successfully (AU)

El síndrome de Rubinstein-Taybi es una enfermedad de baja incidencia (1:125.000-700.000 RN vivos) asociada a mutaciones o microdeleciones del cromosoma 16. Los pacientes afectos presentan frecuentemente anomalías craneofaciales y torácicas que condicionan una vía aérea y ventilación dificultosas. Asimismo, asocian retraso mental y comorbilidades, entre las que cabe destacar cardiopatías congénitas, infecciones respiratorias de repetición y enfermedad por reflujo gastroesofágico, que aumenta el riesgo de broncoaspiración. En estos pacientes se ha descrito una mayor incidencia de arritmias tras la administración de fármacos, como la succinilcolina y atropina, así como una mayor incidencia de apnea e hipopnea en el postoperatorio. Presentamos el manejo anestésico de un paciente afecto de síndrome de Rubinstein–Taybi sometido a cirugía torácica urgente por perforación esofágica y mediastinitis, con exclusión pulmonar llevada a cabo con bloqueador bronquial (AU)

Intestinal malrotation in Rubinstein-Taybi syndrome.

Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomaly syndrome which may include malformations of the central nervous system, heart, genitourinary tract, and other organs. However, intestinal malrotation has not been previously known to be associated with RSTS. This report documents six persons with RSTS who also had malrotation of the intestine requiring surgical repair. This suggests a possible increased frequency of malrotation in RSTS. Diagnostic studies for malrotation should be considered if recurrent vomiting, abdominal pain, and other symptoms of possible malrotation are present.

Pancreatectomía distal como opción quirúrgica en Páncreas divisum asociado a síndrome de Rubinstein-Taybi / Distal pancreatectomy as surgical option in Pancreas divisum associated with Rubinstein-Taybi syndrome

Introducción. El síndrome de Rubinstein-Taybi (SRT) y Páncreas Divisum (PD) son patologías poco frecuentes en la población infantil. El diagnóstico del síndrome Rubinstein-Taybi es clínico, principalmente presenta discapacidad intelectual y rasgos dismórficos. El páncreas divisum se relaciona con pancreatitis idiopática en el 7,5% de pacientes con esta alteración. No se ha encontrado bibliografía que asocie ambas patologías y continúa siendo un reto el manejo de pancreatitis asociado a páncreas divisum. Caso clínico. Paciente con diagnóstico de síndrome RubinsteinTaybi presenta dolor abdominal recurrente de 6 meses de evolución y enzimas pancreáticas elevadas; se realizó una resonancia magnética donde se sospecha de páncreas divisum. El drenaje endoscópico fue frustro, por lo que se realizó una pancreatografía retrógrada intraoperatoria donde se confirma páncreas aberrante y se opta por pancreactectomía distal y anastomosis yeyunopancreática. Comentario. La pancreatectomía con anastomosis pancreatoyeyunal es una excelente opción terapéutica en pacientes con abordaje endoscópico complicado y pancreatitis crónica

Introduction. The Rubinstein-Taybi syndrome and pancreas divisum are uncommon diseases in children. The Rubinstein-Taybi syndrome diagnosis is only clinical, and mental retardation and dysmorphic features mainly characterize it. The PD relates to idiopathic pancreatitis in 7.5% of patients suffering from this disorder. It has not been found any cases reported where these diseases are associated and the management of patients with pancreatitis associated with PD is still a challenge. Clinical case. A patient diagnosed with Rubinstein-Taybi syndrome has recurrent abdominal pain of six months and elevated pancreatic enzymes, he underwent a magnetic resonance imaging where pancreas divisum is suspected. Endoscopic drainage was foiled so he underwent intraoperative retrograde pancreatography where aberrant pancreas is confirmed and a distal pancreactectomy and yeyunopancreatic anastomosis is the chosen option. Comments. The pancreatectomy with pancreato-jejunal anastomosis is an excellent therapeutic option surgical is proposed for a patient with difficulty endoscopic approach and chronic pancreatitis

Surgical treatment of scoliosis in Rubinstein-Taybi syndrome type 2: a case report.

INTRODUCTION: Rubinstein-Taybi syndrome is an autosomal dominant disorder resulting in congenital craniofacial deformities, and divided into types 1 and 2. Scoliosis has not been reported as one of the extra-cranial manifestations of Rubinstein-Taybi syndrome type 2. CASE PRESENTATION: We present a 14-year-old British Caucasian girl with Rubinstein-Taybi type 2 syndrome who developed a severe double thoracic scoliosis measuring 39° and 68° respectively. Her scoliosis was associated with thoracic hypokyphosis, causing a marked reduction in the anteroposterior diameter of her chest and consequent severe restrictive lung disease. The deformity was noted by her local pediatrician as part of a chest infection assessment when she was aged 13 years, and gradually progressed as the result of spinal growth. Our patient underwent a posterior spinal arthrodesis using a single concave pedicle hook and screw rod construct and locally harvested autologous graft supplemented by allograft bone. This spinal fixation technique was selected because of our patient's low body weight to avoid prominence of the instrumentation causing skin healing problems and pain. Her scoliosis was corrected to 18° and 30° and we achieved a balanced spine in the coronal and sagittal planes. An underarm spinal jacket was provided for six months after surgery. During her latest follow-up at skeletal maturity, our patient had an excellent cosmetic outcome with no loss of deformity correction or detected pseudoarthrosis and a normal level of activities. CONCLUSION: Scoliosis can develop in young children with Rubinstein-Taybi syndrome type 2, with the deformity deteriorating around the pubertal growth spurt. Surgical treatment can correct the deformity, balance the spine and prevent mechanical back pain. It can also stabilize the chest area and avoid respiratory complications developing as the scoliosis progresses, which can result in severe restrictive pulmonary disease. The use of single concave instrumentation is indicated in very slim patients with poor muscle bulk; in our patient, this produced satisfactory deformity correction and a favorable outcome at completion of growth. Peri-operative care in this group of patients can be very challenging because of associated co-morbidities as well as the presence of severe behavioral issues that result in poor patient compliance.

Válvula Aortica bicúspide en un paciente con síndorme de Rubinstein-Taybi / Bicuspid aortic valve in a patient with Rubinstein-Taybi syndrome

El síndrome de Rubinstein-Taybi es una enfermedad infrecuente que puede acompañarse de malformaciones cardiovasculares. Se presenta el caso de un paciente adulto con síndrome de Rubinstein-Taybi intervenido bajo circulación extracorpórea por presentar una válvula aórtica bicúspide

Rubinstein-Taybi syndrome is a rare disease that may be associated with cardiovascular malformations. We report the case of an adult patient with Rubinstein-Taybi syndrome who underwent an open heart procedure due to a bicuspid aortic valve

Patellofemoral ligament reconstruction in a patient with Rubinstein-Taybi syndrome.

Recurrent dislocation of patella may occur in patients with ligament laxity. Method of treatment in this condition is controversial but patellofemoral ligament reconstruction is the most accepted method. We present a patient with Rubinstein-Taybi syndrome and recurrent patellar dislocation who managed successfully by patellofemoral ligament reconstruction.

Dislocation of the patella in a patient with Rubinstein-Taybi syndrome--a case study.

The Rubinstein-Taybi syndrome is a rare syndrome of congenital disorders whose etiology is still unknown. Most RTS patients have musculoskeletal abnormalities which, if untreated, may significantly affect independent mobility. This paper presents the results of a surgical treatment of a 13-year-old patient with RTS and instability of the patellofemoral joint. The patient was followed up for 3 years. Surgery resulted in complete pain relief, increased knee range of motion and marked improvement in the patient's gait. An extensive plasty of the extensor apparatus of the knee joint increases the likelihood of a good and lasting treatment result in patients with RTS and instability of the patellofemoral joint.

Identical twin sisters with Rubinstein-Taybi syndrome associated with Chiari malformations and syrinx.

Chiari malformations are multifactorial and heterogeneous entities, characterized by abnormalities in the posterior fossa. They have been identified in association with various genetic syndromes in recent years. Two previous studies have noted an association of Chiari malformations with Rubinstein-Taybi syndrome (RTS). In this clinical report, we highlight identical twins with RTS caused by a mutation in CREBBP that presented with slightly different Chiari malformations in association with an extensive multiloculated syrinx and scoliosis. RTS has been found to be associated with craniocervical abnormalities in literature review, and this clinical report demonstrates the prudent consideration of the physician who cares for patients impacted by RTS to effectively screen via symptomatology and physical examination for Chiari pathology or other craniocervical abnormalities.

Long-term results following osteotomy of the thumb delta phalanx in Rubinstein-Taybi Syndrome.

Rubinstein-Taybi Syndrome is a rare condition affecting 1:125,000 children. It is associated with short broad radially deviated thumbs, secondary to a delta proximal phalanx of the thumb. We undertook a retrospective review of seven children (13 thumbs) with Rubinstein-Taybi syndrome whose thumbs were treated using a corrective osteotomy to the delta phalanx over a 13 year period. The types of osteotomy used in the series were reverse wedge osteotomy, opening wedge osteotomy and dome shaped osteotomy. The mean preoperative radial deviation of thumbs was 68 degrees (range 45-85 degrees ). At follow up five of the 13 thumbs demonstrated some residual radial deviation. All recurrences occurred in the dome shaped osteotomy group. Our data suggest that surgery is effective in correcting the deformity, but there is a risk of incomplete correction or recurrence. Despite the recurrence the mean postoperative deformity was significantly better than preoperatively and the majority of patients families subjectively reported good function. No patient in our series has yet undergone further corrective surgery.

Anestesia em paciente com síndrome de Rubinstein-Taybi: relato de caso / Anesthesia in patient with Rubinstein-Taybi syndrome: case report

JUSTIFICATIVA E OBJETIVOS: A síndrome de Rubinstein-Taybi (SRT) é uma doença genética causada por uma mutação ou apagamento do cromossomo 16, caracterizada por retardo físico e mental, anormalidades craniofaciais e hálux e polegares largos. Há pouca informação sobre esta síndrome na literatura anestésica. O objetivo deste relato foi apresentar a conduta anestésica em paciente submetido à cirurgia odontológica e discutir as características de interesse para a anestesia nesses pacientes. RELATO DO CASO: Paciente do sexo masculino, 9 anos, 28 kg, submetido à anestesia geral para extrações de dentes anormalmente posicionados. Apresentava as características típicas da SRT, retardo físico e mental, anormalidades craniofaciais e hálux e polegares largos. A anestesia foi induzida e mantida com sevoflurano, inicialmente sob máscara facial e após intubação nasotraqueal em ventilação assistida manual com sistema de Bain. Não houve intercorrências e a cirurgia foi realizada em regime ambulatorial. CONCLUSÕES: A importância da avaliação pré-anestésica é enfatizada, devido às malformações, inclusive cardíacas, associadas a esta síndrome. Este paciente, em particular, não apresentava comprometimento cardíaco, presente em um terço dos casos. É recomendável preparação para possível dificuldade de manutenção das vias aéreas.

Rubinstein-Taybi syndrome (RTS) with postaxial polydactyly of the foot: 4-year follow-up until improvement of dysbasia.

Rubinstein-Taybi syndrome (RTS), also known as 'broad thumbs syndrome' or 'broad thumb-hallux syndrome', is a malformation syndrome characterized by the triad of broad thumbs or first toes, a peculiar facial expression called 'comical face' and mental retardation. Although various malformations are combined with the triad, polydactyly is rare. We treated a male patient with RTS complicated by postaxial polydactyly of the foot. His clinical course was different from typical patients with polydactyly, especially in the aspect of walking development. Osteoplasty-combined surgery, which was ideal for anatomical reconstruction, was performed on the patient at 2 years and 11 months of age. A 4-year follow-up period was required until there was an improvement of dysbasia.

Bilateral congenital corneal keloids and anterior segment mesenchymal dysgenesis in a case of Rubinstein-Taybi syndrome.

PURPOSE: To report the unusual association of bilateral corneal keloids and anterior segment mesenchymal dysgenesis in a child with Rubinstein-Taybi syndrome. METHODS: Case report of a 2-year-old boy. RESULTS: Excision of the epicorneal mass in the right eye was followed by recurrence of the lesion. Multiple penetrating keratoplasties were unsuccessful in reconstructing the anterior segment because of recurrent corneal epithelial breakdown, suggesting limbal stem cell insufficiency. Histopathology and electron microscopy of the excised mass lesion showed features typical of a corneal keloid: thickened keratinized epithelium, absent Bowman's layer, and fibrovascular hyperplasia, with haphazard orientation of the collagen lamellae. Ultrasound biomicroscopy and intraoperative findings suggested a diagnosis of Peter anomaly, but genetic analysis did not show a PAX6 mutation. CONCLUSION: The findings in our patient add to the spectrum of ocular changes described in Rubinstein-Taybi syndrome and confirm earlier reports of poor ocular prognosis in corneal keloids and Rubinstein-Taybi syndrome.

[Chronic dacryocystitis fistulization in a Rubinstein-Taybi syndrome]. / Dacriocistita cronica fistulizata într-un caz de sindrom Rubinstein-Taybi.

The article presents the treatment difficulties of the chronic dacryocystitis at an eight month old patient, diagnosed with Rubinstein-Taybi syndrome. The difficulties occurred as a result of numerous antibiotic treatments and surgical procedures suffered by the patient since his second week of life.

Duplicated longitudinal bracketed epiphysis "kissing delta phalanx" in Rubinstein-Taybi syndrome.

A duplicated longitudinal bracketed epiphysis or the "kissing delta" phalanx is not well recognized in the world literature. This represents complex double-delta bones with a longitudinal epiphyseal bracket. This complex is composed of a back-to-back fusion of adjacent delta bones enclosed in a bracket. The convex side of each delta phalanx faces the other; hence the term kissing-delta bone. These delta bones have a very bizarre appearance and are associated with the Rubinstein-Taybi syndrome. We have seen a total of 36 kissing-delta phalanges in the foot. We discuss the natural history and treatment options of this very rare congenital anomaly. This is not a surgical-outcome study, but surgical treatment is observed.

[General anesthesia for an infant with Rubinstein-Taybi syndrome].

A 5-year-old girl with Rubinstein-Taybi syndrome (RTS) was scheduled for ophthalmic surgery under general anesthesia. RTS is a well-defined syndrome with facial abnormalities including a high palate and micrognathia, broad thumbs and big toes, and mental retardation as main clinical features, which may be complicated with repeated respiratory infections, cardiac anomalies, and so on. Anesthesia was uneventfully induced and maintained with the inhalation of oxygen, nitrous oxide and sevoflurane. Special attention was paid to the possibilities of the difficult airway, aspiration pneumonia and cardiovascular dysfunction during anesthesia. No complications were observed throughout the perioperative procedures.