No abstract

The clinical data of our cases enlarge the wide spectrum of patients with HNF1B anomaly. The underlying molecular defect in all cases was a 1.3- to 1.7-Mb deletion, and paired, segmental duplications along with breakpoints were most likely involved in this recurrent chromosomal microdeletion.

Ultrasonography is a very helpful tool for establishing the correct diagnosis in osteomyelitis and reducing the frequency of additional imaging studies.

Cerebral ultrasound (US) imaging was performed as a screening procedure in approximately 3,600 neonates and infants over a period of 18 months. Hyperechoic lesions in the basal ganglia and thalamic region were detected incidentally in 15 of these patients. Clinical diagnoses included cytomegalovirus infection, asphyxia, rotavirus infection, prematurity, amniotic infection, dysmorphic stigmata, hyperbilirubinemia, congenital heart disease, and diabetic fetopathia. Lesions showed a single punctate (n = 5), multiple punctate (n = 8), or stripe-like pattern (n = 2), with no disease-specific distribution. Computed tomography performed in two of the 15 patients was normal. Lesions resolved within four to seven months in four of eleven cases who had follow-up studies, whereas echogenicities persisted in the remaining seven patients over a period of observation ranging between one to 15 months. Our results indicate that hyperechoic lesions in the basal ganglia and thalamic region may be associated with congenital infections and asphyxia, but could indicate some other unknown pathology. No correlation was found between the morphology of foci and both clinical diagnosis and results of follow-up studies.