Approach in an adolescent Proteus male patient with megafoot

Proteus syndrome is a rare overgrowth syndrome characterized by hemihypertrophy, lower limb asymmetry, hyperpigmentations, lipomas, and vascular malformation. In this paper, we present a new adolescent Proteus syndrome patient with bilateral megafoot. He was very successful in playing football and was very popular among his friends. We present this case for the psychological and surgical aspects of this very interesting entity. We also review the recent literature related with Proteus syndrome

An anencephalic monocephalus diprosopus "headed twin": postmortem and CT findings with emphasis on the cranial bones

Monocephalus diprosopus is a form of conjoined twinning characterized by a single body, one unusual head and two faces or a spectrum of duplication of the craniofacial structures. Such cases have been mainly described according to postmortem pathologic examination. This presented case is a 26-week-stillborn female fetus, with unusual facial appearance with four eyes, two mouths, two noses, two ears and a defective cranial vault. To our knowledge, a detailed computerized tomography (CT) examination of the aberrant facial and cranial bones of such a case has not been reported to date. In this reported case, we present an anencephalic monocephalus diprosopus "headed twin", and describe the CT findings with emphasis on the cranial bones

Variable expressivity of congenital longitudinal radial deficiency and spinal dysraphism in monozygotic twins

We report monozygotic twins with longitudinal radial hypoplasia and low (L5) spina bifida occulta, but with differing severity. There is only one previous report of similar twins. We report these identical twins with the expression of longitudinal radial hypoplasia with mirror image pattern on contralateral sides, and the association of low spina bifida occulta

Early prenatal diagnosis of conjoined twins at 7 weeks and 6 days' gestation with two-dimensional Doppler ultrasound: a case report

This case report presents the prenatal diagnosis of conjoined twins at 7 weeks and 6 days’ gestation according to the last menstrual period and 6 weeks and 4 days’ gestation according to crown-rump length in a 32-year-old Turkish woman, using two-dimensional Doppler ultrasound. The twins were fused to each other at the thoracic region (thoracopagus). In the light of previous reports of conjoined twins this appears to be one of the earliest prenatally diagnosed cases in the medical literature

A 34-week-old male fetus with short rib polydactyly syndrome (SRPS) type I (Saldino-Noonan) with pancreatic cysts

A 34-week-old male fetus (first diagnosed at 28 weeks of gestation) with short rib polydactyly type I Saldino-Noonan syndrome is presented in this study. In the postmortem examination of the fetus, pancreatic dysplasia, multiple cysts and multicystic dysplastic kidneys, omphalomesenteric cyst, ascites, malrotation, micropenis, undescended testes, bilateral inguinal hernia and hydrops were observed. The parents were first-degree cousins. One male and one female sibling had similar findings and both had died after birth. Only a four-year-old healthy daughter was alive. We believe these findings will be helpful in the differential diagnosis of further lethal skeletal dysplasia cases

Effective treatment of multifocal aggressive fibromatosis with low-dose chemotherapy

Desmoid tumor (aggressive fibromatosis), as a member of a group of borderline neoplasms, is a rare tumor of fibroblastic origin that remains difficult to treat. Treatments with surgery, radiotherapy and different medical protocols including interferon (IFN)-alpha, hormonal agents such as tamoxifen (anti-estrogen) as well as non-steroidal anti-inflammatory drugs and low-dose antineoplastic agents have been reported. In this report we describe a new patient with multifocal aggressive fibromatosis who was successfully treated with low-dose chemotherapy consisting of methotrexate and vinblastine

Prenatally diagnosed case of 22q11.2 deletion syndrome associated with pulmonary artery aneurysm

Here, we report a new case with chromosome 22q11 deletion and cardiac anomaly diagnosed prenatally by echocardiography. Fluorescence in situ hybridization (FISH) analysis demonstrated a heterozygous deletion at 22q11.2. Echocardiography revealed ventricular septal defect, pulmonary atresia, and aneurysm of the main pulmonary artery and its branches. Pulmonary artery aneurysm (PAA) is rarely seen in patients with 22q11.2 deletion syndrome (22qDS). In this case, PAA was found by prenatal echocardiographic examination at the 25th week of gestation. To date, no prenatally diagnosed case of 22qDS with PAA has been reported. This is the first 22qDS case with PAA that was detected prenatally by FISH analysis

Rubinstein-Taybi syndrome with normal FISH result and CREBBP gene analysis: a case report

We report on a six-year-old boy with typical Rubinstein-Taybi syndrome (RSTS) phenotype. Clinical findings included mental and motor retardation, patent ductus arteriosus (PDA), undescended testes, hirsutism, broad thumbs with radial angulation and broad toes, and inguinal hernia. His karyotype was normal (46, XY) and fluorescence in situ hybridization (FISH) showed no deletion of the CREBBP [cAMP response element-binding (CREB) binding protein] gene on chromosome 16p13.3. CREBBP gene sequencing also revealed normal results. We wish to present this case because this patient had typical RSTS phenotype, but normal FISH and CREBBP gene sequencing results. It could be possible that genetic heterogeneity is related with novel mutations in other genes. With the publication of such cases, their significance will be brought to the attention of researchers in this field

TRAIL and DcR1 Expressions Are Differentially Regulated in the Pancreatic Islets of STZ- versus CY-Applied NOD Mice

TNF-related apoptosis-inducing ligand (TRAIL) is an important component of the immune system. Although it is well acknowledged that it also has an important role in Type 1 Diabetes (T1D) development, this presumed role has not yet been clearly revealed. Streptozotocin (STZ) and Cyclophosphamide (CY) are frequently used agents for establishment or acceleration of T1D disease in experimental models, including the non-obese diabetic (NOD) mice. Although such disease models are very suitable for diabetes research, different expression patterns for various T1D-related molecules may be expected, depending on the action mechanism of the applied agent. We accelerated diabetes in female NOD mice using STZ or CY and analyzed the expression profiles of TRAIL ligand and receptors throughout disease development. TRAIL ligand expression followed a completely different pattern in STZ- versus CY-accelerated disease, displaying a prominent increase in the former, while appearing at reduced levels in the latter. Decoy receptor 1 (DcR1) expression also increased significantly in the pancreatic islets in STZ-induced disease. Specific increases observed in TRAIL ligand and DcR1 expressions may be part of a defensive strategy of the beta islets against the infiltrating leukocytes, while the immune-suppressive agent CY may partly hold down this defense, contributing further to diabetes development

A 13-year-old female with Turner syndrome and achalasia

The most common gastrointestinal problems associated with Turner syndrome are intestinal telangiectasia, colon carcinomas, inflammatory bowel, and liver diseases. In this paper we present for the first time a 13-year-old female with 45,X karyotype associated with achalasia. As far as we know, achalasia associated with Turner syndrome has not been reported previously. The aim of this report was to point out the association of Turner syndrome and achalasia. It could be a coincidental or Turner syndrome-associated finding