The role of delayed bone age in the evaluation of stature and bone health in glucocorticoid treated patients with Duchenne muscular dystrophy.

BACKGROUND: Low bone mineral density and an increased risk of appendicular and vertebral fractures are well-established consequences of Duchenne muscular dystrophy (DMD) and the risk of fractures is exacerbated by long-term glucocorticoid treatment. Monitoring of endocrine and skeletal health and timely intervention in at-risk patients is important in the management of children with DMD. METHODS: As part of the Norwegian Duchenne muscular dystrophy cohort study, we examined the skeletal maturation of 62 boys less than 18 years old, both currently glucocorticoid treated (n = 44), previously treated (n = 6) and naïve (n = 12). The relationship between bone age, height and bone mineral density (BMD) Z-scores was explored. RESULTS: The participants in the glucocorticoid treated group were short in stature and puberty was delayed. Bone age was significantly delayed, and the delay increased with age and duration of treatment. The difference in height between glucocorticoid treated and naïve boys was no longer significant when height was corrected for delayed skeletal maturation. Mean BMD Z-scores fell below - 2 before 12 years of age in the glucocorticoid treated group, with scores significantly correlated with age, duration of treatment and pubertal development. When BMD Z-scores were corrected for by retarded bone age, the increase in BMD Z-scores was significant for all age groups. CONCLUSION: Our results suggest that skeletal maturation should be assessed in the evaluation of short stature and bone health in GC treated boys with DMD, as failing to consider delayed bone age leads to underestimation of BMD Z-scores and potentially overestimation of fracture risk.

Aplasia cutis congenita associated with limb, eye, and brain anomalies in sibs: a variant of the Adams-Oliver syndrome?

Aplasia cutis congenita (ACC) may occur in isolation or with other congenital malformations. Peripheral limb anomalies and ACC are major elements of the Adams-Oliver syndrome, which is usually inherited as an autosomal dominant disorder. We report on a sister and brother with ACC and brain, eyes, and transverse limb anomalies. The phalanges of the hands and feet were either short or absent. The girl also had absence of right patella, was severely mentally retarded and blind with retinal nonattachment. The boy had a falciform fold in the left eye. He died at age one week and autopsy showed partial agenesis of corpus callosum. The findings in the sibs may represent a severe variant of the Adams-Oliver syndrome, or a previously unrecognized syndrome involving vascular disruption.

Radiological features in generalized lipodystrophy.

Seven patients with congenital generalized lipodystrophy and one patient with acquired generalized lipodystrophy have been followed up for 38 years. Various radiological techniques have been used, and the major findings are summarized. All patients had an advanced skeletal age. A sclerotic skeleton was a major feature in childhood in the congenital form, later turning into osteolytic lesions or more distinct sclerotic patches in adolescence or early adulthood. In the acquired form the skeleton was slightly osteoporotic without cystic changes. Ultrasonography and computerized tomography examinations revealed hepatosplenomegaly with fatty infiltration in both types. Lack of subcutaneous and intraabdominal fat was easily confirmed with computerized tomography. Five patients with the congenital for underwent pneumoencephalography, which revealed dilated brain ventricles and basal cisterns. Cardiomegaly and large kidneys were also a major feature.

Cleft lip and palate, scoliosis, skeletal and cardiac malformations and other dysmorphic features in a child. Case report.

A girl aged 3 1/2 years presented with cleft lip and palate, facial asymmetry, brachycephaly, persistent ductus arteriosus, vertebral defects, and progressive scoliosis. There was, however, no significant mental and growth retardation.

Iohexol for contrast enhancement of bowel in pediatric abdominal CT.

Abdominal CT scans from 160 examinations performed on pediatric patients using iohexol 2 percent as contrast medium for bowel enhancement were evaluated retrospectively. When diluted with a beverage of the child's choice, iohexol has a neutral taste and cannot be detected, and 139 out of 142 patients drank the full amount of dilute contrast offered to them. The enhancement of bowel in the area of interest was graded as good (58%), reasonable (23%), or poor (19%). The contrast medium was prepared from leftovers from our angiocardiography studies. We conclude that the use of water-soluble contrast medium in a low concentration is a safe and cost-effective way of facilitating ingestion of sufficient amounts of the medium in oncologic pediatric patients undergoing cytotoxic and/or radiation treatment.

Coronal and sagittal clefts in skeletal dysplasias.

Objective. To assess the role of coronal and sagittal vertebral clefts in diagnosing skeletal dysplasias. Material and Methods. A search in the database at the International Skeletal Dysplasia Registry revealed 40 different diagnoses in which coronal or sagittal clefts were present, the major groups being: atelosteogenesis, chondrodysplasia punctata, dyssegmental dysplasia, Kniest dysplasia and short rib polydactyly syndrome. We reviewed all firm cases with both AP and lateral films of the spine in these major groups (n = 143), with patients' ages ranging from 20 weeks of gestation up to 26 years of age. Results. Ninety-four percent of all clefts were found in children less than 1 year of age, mainly located in the thoracolumbar region. Fifty-six percent of the clefts were observed in boys. Coronal clefts were more common than sagittal clefts. Clefts were most frequently observed in atelosteogenesis (88%), followed by chondrodysplasia punctata (79%), dyssegmental dysplasia (73%), Kniest dysplasia (63%) and short rib polydactyly syndrome (53%). Conclusion. Vertebral clefts are of major diagnostic value in the groups mentioned above, especially before 1 year of age. The search did not come up with new entities in which vertebral clefts are of major diagnostic value.

[Fibrodysplasia (myositis) ossificans progressiva]. / Fibrodysplasia (myositis) ossificans progressiva.

A seven-year-old boy with mental retardation and congenital skeletal malformations in the thumbs and big toes developed recurrent lumps in the shoulder and interscapular region. The lumps subsided slowly but left severe stiffness in the affected areas. The first biopsy revealed oedema and a chronic inflammatory response with fibromyxoid proliferation of the soft tissue. A second biopsy revealed ossification of muscle and fascia. The patient is a typical case of fibrodysplasia ossificans progressiva, an autosomal dominant inherited disorder characterized by congenital skeletal malformations in toes and fingers and progressive ectopic ossification, often combined with alopecia, deafness and in rare cases mental retardation. The disorder leads to severe physical disability in young age and respiratory and nutritional problems. No effective treatment is known, but it is important to avoid exacerbating factors such as biopsy, operations and intramuscular injections.

Renal cysts in the carbohydrate-deficient glycoprotein syndrome.

The carbohydrate-deficient glycoprotein (CDG) syndrome is a newly described genetic disorder with autosomal recessive inheritance and multiple organ involvement. We describe five patients with the CDG syndrome who all had abnormal renal structure. In two patients autopsy disclosed multiple microcysts. A hyperechogenic pattern strongly suggesting microcysts was demonstrated in all patients that were available for ultrasound examination, while a large single cyst was also seen in one patient. Based on these findings and the reports of others, renal cysts appear to be common in the CDG syndrome.

Radiological findings in children with respiratory syncytial virus infection: relationship to clinical and bacteriological findings.

Respiratory syncytial virus (RSV) is a frequent cause of bronchiolitis leading to acute admission to hospital in the winter months. A wide range of findings accompanies this disease and the appearances are seldom completely diagnostic. Associated bacterial co-infections are common and we have shown an association with atelectasis among patients with pathogenic bacteria in the nasopharynx.

[Catheter closure of open ductus arteriosus--the first 100 patients]. / Kateterbasert lukking av åpen ductus arteriosus--de første 100 pasienter.

BACKGROUND: Patent ductus arteriosus is increasingly treated with catheter based techniques. We present our results as by the end of 1998 of the first 100 patients given such treatment. MATERIAL AND METHODS: The 100 patients between 0.6 and 31.4 years were initially treated with one of these devices: The Rashkind umbrella (60 patients), Cook PDA coils (31 patients) or Amplatzer ductal occluders (ten patients). Seven umbrella patients were treated twice, one with an additional umbrella, six with coils; two coil patients twice, one with another coil and one--after embolisation--with a peg. RESULTS: The overall complete closure rate for all groups was 90% after nine patients had been treated a second time. The primary complete closure rate in pegs was 100%, after reintervention 85% in umbrella and 97% in coil patients. Neither umbrellas nor pegs have embolised. One coil embolised in the course of implantation of 40 coils (2.5%). No other complication has occurred. INTERPRETATION: The closure of the arterial duct with catheter techniques compares favorably with surgery and is now established as the method of choice. Following the investigational introduction of pegs there is no longer an upper limit in the size of ducts suitable for such treatment.