ABSTRACT
Four individuals from one consanguineous family affected with macrocephaly, multiple epiphyseal dysplasia and distinctive facies were presented by Al Gazali and Bakalinova in 1998 (1) as a distinct clinical entity. To the best of our knowledge, no other similarly affected family has been presented in the literature. Here, we present an affected macrocephalic male, from a consanguineous family, with facial anomalies, cranial MRI findings and multiple epiphyseal dysplasia findings. We believe this is the second family with a similar clinical spectrum and the same inheritance pattern as those of the family presented by Al Gazali and Bakalinova. Pectus carinatum, hip dislocation and a history of prenatal polyhydramnios have been noted as additional findings in our patient.
Subject(s)
Abnormalities, Multiple/diagnosis , Consanguinity , Megalencephaly/diagnosis , Osteochondrodysplasias/diagnosis , Abnormalities, Multiple/genetics , Anterior Eye Segment/abnormalities , Bone and Bones/abnormalities , Brain/pathology , Child, Preschool , Facies , Genetic Predisposition to Disease/genetics , Hip Dislocation, Congenital/complications , Hip Dislocation, Congenital/diagnosis , Hip Dislocation, Congenital/genetics , Humans , Magnetic Resonance Imaging/methods , Male , Megalencephaly/genetics , Osteochondrodysplasias/geneticsABSTRACT
A sporadic, adult male patient with generalized platyspondyly, large mandible, hypoplastic teeth, strabismus, and low serum cholesterol levels is presented. Some of the patient's features resemble brachyolmia, Spondylo-epiphyseal dysplasia tarda, Kenny-Caffey and Stickler syndromes. Based on literature review, possible diagnoses are discussed. In conclusion, this patient can have a variant of brachyolmia or Spondylo-epiphyseal dysplasia tarda. However, we cannot exclude that this constellation of clinical features may represent a new syndrome.
Subject(s)
Cholesterol/blood , Hyperopia/diagnosis , Mandible/pathology , Osteochondrodysplasias/diagnosis , Strabismus/diagnosis , Tooth/pathology , Adult , Diagnosis, Differential , Humans , Hyperopia/pathology , Male , Osteochondrodysplasias/pathology , Phenotype , Strabismus/pathology , SyndromeABSTRACT
Replacement lipomatosis of the kidney (RLK) is an advanced form of renal sinus lipomatosis, in which infection, renal calculi and long-standing hydronephrosis are accompanied by renal parenchymal atrophy. The kidneys are usually poor or non-functioning. We present CT and MRI findings of an unusual focal RLK of a 52-year-old male, who was examined with the suspicion of renal malignancy.
Subject(s)
Kidney Diseases/diagnosis , Lipomatosis/diagnosis , Contrast Media , Humans , Magnetic Resonance Imaging/methods , Male , Middle Aged , Tomography, X-Ray Computed/methods , Urography/methodsSubject(s)
Bile Duct Diseases/diagnosis , Bile Duct Diseases/etiology , Cholangiopancreatography, Magnetic Resonance , Cholelithiasis/complications , Hepatic Duct, Common , Adult , Bile Duct Diseases/surgery , Cholelithiasis/surgery , Constriction, Pathologic , Diagnosis, Differential , Humans , Laparoscopy , Male , SyndromeABSTRACT
Spinal cord involvement, either isolated or together with brain, in Behçet's disease (BD) has been reported. In these cases the existence of the disease was previously known or the classical triad of disease such as oral and genital ulcers with uveitis/iritis was present. Here we describe a 22-year-old man in whom acute transverse myelitis diagnosed with MRI was the first finding of BD.
ABSTRACT
The aim of this study was to evaluate the efficacy of (31)P magnetic resonance spectroscopy ((31)P-MRS) in the differentiation and staging of brain tumors. Fifteen volunteers and 44 patients with brain tumors (14 meningiomas, 13 low- and 17 high-grade gliomas) were prospectively evaluated by (31)P-MRS. The pH (r=0.493, p<0.001), [Mg(+2)] (r=0.850, p<0.001) PME/α-ATP (r=0.776, p<0.001), PDE/α-ATP (r=-0.569, p<0.001) and (PCr+ß-ATP)/Pi ratios were well correlated with tumor differentiation. High-grade gliomas had significantly higher pH (r=0.912, p<0.001) and [Mg(+2)] (r=0.855, p<0.001) and PME/α-ATP (r=0.894, p<0.001) ratio, and lower PCr/α-ATP (r=-0.959, p<0.001), Pi/α-ATP (r=-0.788, p<0.001) and PDE/α-ATP ratios (r=-0.968, p<0.001) than those of low-grade gliomas. Changes in (31)P-MRS parameters by the degree of malignancy are good indicators of increased anaerobic metabolism and hypoxia of tumoral tissue to compensate intratumoral energy deficiency. (31)P-MRS parameters are very useful for grading and differentiation of brain tumors.
ABSTRACT
Psoas abscess secondary to tuberculous spondylodiskitis is usually a complication of thoracolumbar vertebrae disease. The psoas abscess may be difficult clinically to diagnose because of its rarity, insidious onset of the disease, and nonspecific clinical presentation. We report multidetector CT and MR imaging findings of a psoas abscess secondary to primary tuberculous spondylodiskitis of the spine from the T3 to L2 vertebrae, which presented as a flank mass.
