Richard I. Markowitz

Sedation for pediatric patients undergoing CT and MRI

Adequate sedation remains one of the most important parts of performing high quality cross-sectional imaging in children. This is a noncomparative retrospective analysis of existing sedation protocols used in 1,158 children between the ages of 1 day and 18 years, checking for safety and efficacy. The most commonly used drugs were chloral hydrate (60-120 mg/kg) by mouth for infants less than 18 months and intravenous Nembutal (2-6 mg/kg) for older children. Sedation was successful in 97% of patients.

Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation : Pfeiffer syndrome type III

We present a patient with pansynostosis, hydrocephalus, seizures, extreme proptosis with luxation of the eyes out of the lids, apnea and airway obstruction, intestinal non-rotation, and severe developmental delay. His skeletal abnormalities include bilateral elbow ankylosis, radial head dislocation, and unilateral broad and deviated first toe. The phenotype of this patient is consistent with that previously reported in Pfeiffer syndrome type III, but is unusual for the lack of broad thumbs. Our patient most closely resembles the case described by Kerr et al. [1996: Am J Med Genet 66:138-143] as Pfeiffer syndrome type III with normal thumbs. Mutations in the genes for fibroblast growth factor receptors (FGFR) 1 and 2 have previously been seen in patients with Pfeiffer syndrome type I. The mutation identified in our patient, Ser351Cys in FGFR2, represents the first reported cause of Pfeiffer syndrome type III. An identical mutation was described once previously by Pulleyn et al., in a patient whose brief clinical description included cloverleaf skull, significant developmental delay, and normal hands and feet [Eur. J. Hum. Genet. 4: 283-291, 1996]. In our patient, previously performed single-strand conformation polymorphism analysis failed to detect a band shift; the mutation was identified only after independent sequence analysis.

Ovarian torsion: Clinical and imaging presentation in children

Ovarian torsion is uncommon and has a nonspecific clinical presentation. To determine the impact of imaging on clinical management, the authors reviewed their recent experience with 12 children who had a total of 13 episodes of ovarian torsion. Three children presented as neonates, six were premenarchal, and three were postmenarchal. Ultrasound was the imaging study of choice. In all three neonates, ultrasonography showed complex abdominopelvic cysts indicating the need for surgery. In five of 10 episodes in older patients, ultrasonography showed a solid mass with an appearance strongly suggestive of torsion. Same-day surgery was performed in three patients, and the involved ovary was salvaged in one. Another patient had a small piece of normal-appearing ovary left in situ. This low rate of ovarian salvage is attributable to the combination of delay in patient presentation and surgical delay owing to the often nonspecific clinical and imaging presentation of ovarian torsion. A high level of clinical suspicion, expeditious imaging, and familiarity with the varied clinical and imaging presentations of ovarian torsion should decrease the surgical delay and improve the likelihood of ovarian salvage.

Immune deficiency syndromes.

S INCE 1952, following Bruton’s report of a patient with agammaglobulinemia,’ efforts have been made to gain insight into the complexities of the immune system. The growing list of recognizable immunodeficiency states is a testimonial to the achievements reached that established the importance of the immune system in protecting the individual against infections and the development of certain neoplasms.6 The lymphocytes, the phagocytic cells of the blood, and reticuloendothelial system, comprise the major components of an active and complete immune system. Because the thymus is now known to play a major role in the ultimate activation of the lymphocyte, a consideration of its role in normal function must precede the discussion of the various abnormal states.

Back Pain in Children Who Present to the Emergency Department

The purpose of this study was to identify the causes and epidemiology of back pain in children who present to the emergency department. All children who presented to an urban pediatric emergency department (ED) during a 1-year period with the chief complaint of back pain were examined and evaluated with a uniform questionnaire. This was completed at the time of the ED visit in 48%, and within 48 hours in 52%. During a 1-year period, 225 children with a complaint of back pain were evaluated. The mean age was 11.9 ±4 years and 60% were female. Onset was acute (≤2 days) in 59%, and chronic (≥4 weeks) in only 11.6%. Pain awakened children from sleep in 47%, and caused 52% to miss school or work. The most common diagnoses were direct trauma (25%), muscle strain (24%), sickle cell crises (13%), idiopathic (13%), urinary tract infection (5%), and viral syndrome (4%). Radiographs of the back were rarely helpful. About 5% required hospital admission; one half of these were attributed to sickle cell crises. We conclude that back pain is an uncommon reason for children to present to an emergency department. When present, pediatric back pain is most often musculoskeletal, associated with an acute infectious illness or a traumatic event. Although the etiology is rarely serious, back pain often affects the daily activities of symptomatic children. Clin Pediatr. 1999;38:401-406

Bronchiectasis in Children

Bronchiectasis (BR) is a descriptive term for abnormal, irreversibly dilated, and often thick walled bronchi, usually associated with inflammation. Causes are varied but include cystic fibrosis, aspiration, post infectious airway obstruction, immune abnormalities, immotile cilia, posttransplantation states, and congenital bronchial lesions. Although BR is uncommon in children, it causes significant mortality when present. Following a period of presumed decline due to antibiotics and vaccines, BR may increase in prevalence because of AIDS, organ transplantation complications, and changing patterns of childhood immunization. As with adults, high resolution CT (HRCT) is the most useful imaging tool for diagnosis and evaluation of bronchiectasis in children.

Osteoid osteomas: a pain in the night diagnosis

Osteoid osteoma is a common benign bone-forming lesion that is composed of a nidus of vascular osteoid tissue and woven bone lined by osteoblasts. It is frequently associated with considerable surrounding inflammation. The diagnosis is usually straightforward when imaging reveals a radiolucent nidus surrounded by variable degrees of reactive sclerosis. However, the diagnosis can be elusive when osteoid osteomas occur in atypical locations, as they may have a nonspecific and misleading appearance on different imaging modalities, particularly on MRI. The purpose of this pictorial essay is to review the typical and atypical features of osteoid osteomas on different imaging modalities, and the appearance of osteoid osteomas in different locations. We also review growth disturbances caused by osteoid osteomas and potential mimickers, with imaging characteristics that can aid in diagnosis.

Further clinical delineation and increased morbidity in males with osteopathia striata with cranial sclerosis: An X-linked disorder?

Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by hypertelorism, macrocephaly, frontal bossing, broad nasal bridge, palate anomalies, hearing deficits, and mental retardation. The radiographic findings include cranial sclerosis, linear striations in the long bones and iliac wings, small poorly aerated sinuses, scoliosis, and increased bone density. The sensory deficits are disabling, but the condition generally is not life threatening. We describe 4 brothers with the characteristics of OS-CS, 3 of whom have died from more serious complications of the disorder. The mother of these children, and her only daughter, have the mildest phenotype with the typical linear striations in the long bones and macrocephaly. OS-CS is thought to be autosomal dominant with complete penetrance and variable expressivity. Our observations could be consistent with X-linkage, since there is milder expression in the female relatives. In addition, we recognize absent fibulae, malrotation, and omphalocele as new manifestations as well as congenital heart disease.

Congenital Lobar Emphysema The Roles of CT and V/Q Scan

An infant with congenital lobar emphysema of the left upper lobe presented with unusually severe mediastinal shift and underwent computed tomography (CT) and radionuclide V/Q scans. The V/Q scan confirmed the non-functioning nature of the hyperinflated lobe while the CT scan depicted the abnormal anatomy as well as the normal morphologic characteristics of the remaining lung thus allowing for safe and appropriate surgical management.

Sonography of the knee in normal and abused infants

Sonography of an infants knee is relatively easy and can show the non-ossified cartilage and adjacent soft tissues with great clarity. The normal anatomic features are characteristic and easy to learn and recognize. In abused infants, sonograms can confirm subtle or questionable radiographic abnormalities. In infants with metabolic bone disease, detection of occult fractures of the epiphyses is clinically important. Metaphyseal abnormalities due to neonatal ricktes should not be mistaken as signs of child abuse.