ABSTRACT
Twelve neonates presenting with nasal obstruction after birth were evaluated by imaging studies for diagnostic reasons. Four groups were recognized: Group I: choanal atresia (n = 5) and choanal stenosis (n = 1); Group II: congenital nasal pyriform aperture stenosis (CNPAS) (n = 3) and holoprosencephaly (n = 1); Group III: nasolacrimal duct mucocele (n = 1); Group IV: nasal hypoplasia (n = 1). Associated anomalies were found in eight patients. Four patients with choanal atresia showed manifestations of the CHARGE (coloboma, congenital heart defect, atretic choanae, retarded physical and neuromotor development associated with central nervous system anomalies, genital hypoplasia, and ear anomaly and/or deafness) association. In the fifth patient with choanal atresia, the diagnosis of amnion disruption sequence was made. One patient with CNPAS had a solitary maxillary central incisor (SMCI), a mild form of holoprosencephaly. Besides proboscis and synophthalmos, SMCI was also present in the holoprosencephaly case. The patient with severe nasal hypoplasia had warfarin embryopathy. This review emphasizes the need for performing imaging studies in the diagnostic workup of neonates born with nasal obstruction.
Subject(s)
Choanal Atresia/pathology , Holoprosencephaly/pathology , Nasal Cavity/abnormalities , Nasal Obstruction/pathology , Abnormalities, Multiple , Constriction, Pathologic , Diagnosis, Differential , Female , Humans , Infant, Newborn , Magnetic Resonance Imaging , Male , Nasal Cavity/pathology , Nasal Obstruction/etiology , Tomography, X-Ray ComputedABSTRACT
Rhombencephalosynapsis is a rare condition in which most cases are found in newborns and infants. Morphological findings are predominantly characterized by fusion of the cerebellar hemispheres and absence of the vermis with often associated supratentorial anomalies. We review the literature with emphasis on diagnostic imaging of this condition and present a case of a 2-year-old girl.
Subject(s)
Cerebellum/abnormalities , Cerebral Ventricles/abnormalities , Echoencephalography , Hydrocephalus/diagnosis , Septum Pellucidum/abnormalities , Tomography, X-Ray Computed , Cerebellum/pathology , Cerebral Ventricles/pathology , Child, Preschool , Developmental Disabilities/diagnosis , Female , Follow-Up Studies , Fornix, Brain/abnormalities , Fornix, Brain/pathology , Humans , Infant , Infant, Newborn , Neurologic Examination , Pregnancy , Septum Pellucidum/pathologyABSTRACT
A patient with Goldenhar's syndrome (oculoauriculovertebral dysplasia) and unilateral aplasia of all semicircular canals is presented. This is the first report of such a finding and may support the hypothesis that Goldenhar's syndrome and the CHARGE association have a common pathogenetic mechanism.
Subject(s)
Goldenhar Syndrome/diagnosis , Magnetic Resonance Imaging , Semicircular Canals/abnormalities , Tomography, X-Ray Computed , Fourier Analysis , Humans , Image Processing, Computer-Assisted , Imaging, Three-Dimensional , Infant , Male , Semicircular Canals/pathologyABSTRACT
We describe a method for diagnosing dural ectasia (DE) and spinal canal widening (SCW) using CT. We examined 23 patients with Marfan's syndrome (MFS), 17 with Ehlers-Danlos syndrome (EDS) and 29 normal subjects, using six axial slices at the level of the L1-S1 pedicles. Transverse diameters of the vertebral bodies, spinal canal and dural sac were measured and indices were defined to differentiate patients with DE and SCW from normal. Statistical significance was assessed using Student's t -test, chi (2)-test and Pearson's correlation coefficient. DE and SCW occurred in 69.6 % and 60.9 % of cases of MFS and in 23.5 % and 35.3 % of EDS respectively. In MFS, prevalence was significantly higher than in the control group. DE was significantly more frequent in MFS than in EDS. A strong correlation existed between DE and SCW in MFS and the control group, but not in EDS. Our system enables quantitative assessment of SCW and DE. The latter is particularly important in subjects suspected of having MFS, in whom it is a common and characteristic sign.
Subject(s)
Dura Mater/diagnostic imaging , Marfan Syndrome/diagnostic imaging , Spinal Canal/diagnostic imaging , Spinal Diseases/diagnostic imaging , Tomography, X-Ray Computed , Adolescent , Adult , Chi-Square Distribution , Confidence Intervals , Dilatation, Pathologic/diagnostic imaging , Ehlers-Danlos Syndrome/diagnostic imaging , Female , Humans , Lumbar Vertebrae/diagnostic imaging , Male , Middle Aged , Prevalence , Sacrum/diagnostic imaging , Sensitivity and SpecificityABSTRACT
The temporal bone CT examination of a 16-year-old female patient with the LADD syndrome or Levy-Hollister syndrome showed multiple bilateral middle as well as inner ear malformations. Ossicular chain anomalies were seen, especially of the incus and stapes. The oval window was very narrow to absent. Both cochleas were hypoplastic and showed modiolar deficiency. A common cavity between the vestibule and lateral semicircular canal was bilaterally present.
Subject(s)
Abnormalities, Multiple/diagnostic imaging , Cochlea/abnormalities , Ear, Middle/abnormalities , Temporal Bone/abnormalities , Adolescent , Cochlea/diagnostic imaging , Ear, Middle/diagnostic imaging , Female , Hand Deformities, Congenital/pathology , Humans , Lacrimal Duct Obstruction/pathology , Syndrome , Temporal Bone/diagnostic imaging , Tomography, X-Ray ComputedABSTRACT
Angiosarcoma of the heart is a rare and highly malignant tumour. Most of the reported cases have been diagnosed post mortem. In a one year period two cases were diagnosed during life and surgically treated. The only possible hope for survival is early diagnosis and surgical removal. Our cases illustrate the contribution of cardiac imaging techniques to early diagnosis and the feasibility of radical excision of this tumour.
