ABSTRACT
We report on 6 patients with short stature and progressive enchondromatous-like changes of the vertebral bodies and the metaphyses of the long bones. Parental consanguinity was observed in 5 of 6 cases, supporting autosomal recessive inheritance. In spite of the similarity in radiographic changes and body proportions, genetic heterogeneity is suggested by the presence of CNS calcifications in 3 patients. Two of the latter had progressive quadriparesis. We tentatively classified these patients into 2 provisional types. An iliac crest biopsy in one of the patients with "type I" disease did not demonstrate enchondromatosis. Light and transmission electron microscopic studies demonstrated large cisterns and small inclusion bodies containing a flocculent material within the rough endoplasmic reticulum of the chondrocytes. Based on the histological and radiographic findings, we propose to classify these conditions among the spondylometaphyseal skeletal dysplasias.
Subject(s)
Osteochondrodysplasias/genetics , Adolescent , Basal Ganglia Diseases/genetics , Basal Ganglia Diseases/pathology , Calcinosis/genetics , Calcinosis/pathology , Child , Consanguinity , Female , Genes, Recessive , Humans , Male , Osteochondrodysplasias/pathologyABSTRACT
Suppurative thyroiditis due to branchial pouch sinus is a rare disease, affecting children and young adults. It presents as an abscess in the lower lateral neck, usually on the left side. Suppurative thyroiditis can be suggested by ultrasound, radionuclide scintigraphy or CT scan, but the diagnosis can only be established by barium swallow showing the sinus from the apex of the pyriform sinus to the perithyroid region. Complete surgical excision of the sinus is essential. Two patients are presented and the role of the various imaging modalities in the diagnosis is discussed.
