ABSTRACT
Odontoid hypoplasia is a developmental abnormality, which is often asymptomatic. However significant sequelae can occur in some individuals, particularly after head or neck trauma. This anomaly is not generally known to be familial. We report on four affected individuals in the same family with odontoid hypoplasia, suggesting autosomal dominant inheritance. This is an important observation in that evaluation of family members is warranted in order to identify those at risk of neurologic compromise.
Subject(s)
Nuclear Family , Odontoid Process/pathology , Atlanto-Axial Joint/physiopathology , Cervical Vertebrae/diagnostic imaging , Cervical Vertebrae/pathology , Cervical Vertebrae/surgery , Female , Humans , Joint Instability/physiopathology , Laminectomy , Odontoid Process/diagnostic imaging , RadiographyABSTRACT
Congenital absence of the portal vein (CAPV) is a rare malformation associated with hepatic encephalopathy and liver function abnormalities. We report a case of a 2-year-old with Turner syndrome, CAPV, and congenital heart malformations.
Subject(s)
Portal Vein/abnormalities , Turner Syndrome/complications , Child, Preschool , Female , Heart Defects, Congenital/complications , Humans , Tomography, X-Ray Computed , Ultrasonography, DopplerABSTRACT
Congenital bronchobiliary fistula (CBBF) is a rare anomaly. Twenty-three cases have been reported since the anomaly was first described in 1952. Most of these cases were diagnosed by bronchoscopy, cholangiography, or hepatobiliary nuclear imaging. Our case of a newborn with bilious emesis with CBBF was depicted by T1-weighted gradient-echo MRI sequences.
Subject(s)
Biliary Fistula/congenital , Biliary Fistula/diagnosis , Bronchial Fistula/congenital , Bronchial Fistula/diagnosis , Magnetic Resonance Imaging , Bile Duct Diseases/congenital , Bile Duct Diseases/diagnosis , Bile Duct Diseases/surgery , Biliary Fistula/surgery , Bronchial Diseases/congenital , Bronchial Diseases/diagnosis , Bronchial Diseases/surgery , Bronchial Fistula/surgery , Combined Modality Therapy , Endoscopy, Digestive System/methods , Follow-Up Studies , Humans , Infant, Newborn , Laparotomy/methods , Male , Risk Assessment , Severity of Illness Index , Thoracotomy/methods , Treatment OutcomeABSTRACT
We report the clinical and MRI findings of symmetric hyperintensity involving the deep and subcortical white matter of the frontal lobes in a neurologically normal child with macrocephaly. In this patient, a serum test for mutations in glial fibrillary acidic protein, used to diagnose Alexander's disease (AD), was positive. This case indicates an extraordinarily mild or early form of juvenile-onset AD.
