T. E. Herman

Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease)

SummarySinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease) is a unique disease of unknown etiology with a childhood predilection. Reports have established the worldwide distribution of the disorder. Although peripheral lymphadenopathy is the most common mode of presentation, numerous studies and individual case reports have established the fact that 30–40% of affected individuals have extranodal manifestations particularly in the head and neck region where the adenopathy tends to be concentrated. As yet, the pathogenesis of SHML has not been established but speculation relates the disorder to an aberrant response to an unspecified antigen, possibly an infectious organism.Because of the clinical manifestations, the radiographic features of SHML are not pathognomonic but rather engender a differential diagnosis which includes lymphomatous, pseudolymphomatous and infectious conditions. Appropriate imaging of patients with SHML depends upon presenting symptoms and signs. Radionuclide bone scanning may be helpful in the evaluation of suspected skeletal lesions or joint symptoms. Gallium scanning is often positive in nodal disease and CT, MRI and sonography are helpful in the evaluation of extranodal sites of involvement such as the orbit, eyelid, upper aero-digestive tract and retroperitoneum.

Cavitary pulmonary lesions in type IV Ehlers-Danlos syndrome

Type IV Ehlers-Danlos syndrome (EDS) is characterized by large vessel bleeding, visceral rupture and early death. Pulmonary complications are uncommon. We report an 18-year-old patient with EDS type IV who developed recurrent large, thick-walled lung cavitary lesions, probably a manifestation of focal lung rupture. Such hemorrhagic cavities are probably the basis of the bullous disase and recurrent pneumothoraces occasionally observed in type IV EDS.

Branchial fistula: CT manifestations.

A patient with a recurrent left neck abscess was found to have a branchial fistula from the pyriform sinus. This uncommon anomaly was demonstrated by CT and barium swallow. The embryology, pathology and clinical features of this lesion are discussed and contrasted with those of the branchial cyst.

Cardiac tumor in Gorlin syndrome. Nevoid basal cell carcinoma syndrome.

A cardiac fibroma in a newborn is reported. The infant had skeletal stigmata of Gorlins syndrome and the mother had known Gorlins syndrome.

Schinzel-Giedion syndrome and congenital megacalyces

The Schinzel-Giedion syndrome is a rare autosomal recessive condition with typical facies, skeletal manifestations and congenital hydronephrosis. We report an infant with characteristic findings who had bilateral congenital megacalyces. Congenital megacalyces is believed to be a developmental abnormality, occurs in other malformation syndromes and has not previously been described in the Schinzel-Giedion syndrome.

Surfactant protein B deficiency: radiographic manifestations

Surfactant is a complex structure primarily composed of phospholipids, but containing essential proteins as well. Congenital deficiency of Surfactant Protein-B (SPB) has recently been documented for the first time in two siblings. The pathologic findings in these infants was that of congenital pulmonary alveolar proteinosis and the radiographic manifestations were strikingly similar to hyaline membrane disease.

Intergluteal Dorsal Dermal Sinuses The Role of Neonatal Spinal Sonography

are frequently associated with bacterial meningitis, aseptic meningitis, low tethered cord, spinal dermoids, teratomas, epidermoids, and intraspinal abscesses.2Intergluteal dorsal dermal sinuses are the most common type of dorsal dermal sinus and are frequently referred to as sacral sinuses, sacral dimples, or pilonidal sinuses.’ Although the risk of tethered cord and intraspinal extension in patients with intergluteal dorsal dermal sinuses is considered small infants with intergluteal lesions are often referred for spinal sonography. We reviewed our experience with neonatal spinal ultrasound to assess its role in the

Pyramidal hyperechogenicity in autosomal recessive polycystic kidney disease resembling medullary nephrocalcinosis

Striking pyramidal hyperechogenicity resembling the sonographic appearance of medullary nephrocalcinosis was found in autosomal recessive polycystic kidney disease (ARPKD). This sonographic pattern is distinctly different from those described previously in ARPKD.

Inflammatory myofibroblastic tumor of the spleen: Report of a case in an adolescent

Inflammatory myofibroblastic tumor (IMT) is an uncommon quasineoplastic process occurring in young patients. Splenic involvement is uncommon and occurs predominantly in older, adult patients. We present the youngest patient reported to date with splenic inflammatory myofibroblastic tumor and discuss the clinical, pathological and imaging features of this lesion.

Occipital horn syndrome

Occipital horn syndrome, a rare genetic disorder of copper metabolism, was recognized in 2 unrelated patients. Radiographs of these patients at various ages allowed confirmation of previously described radiographic findings. In addition, new radiographic manifestations were encountered. These pathognomonic radiographic findings are presented and the clinical and biochemical features of occipital horn syndrome are reviewed.