Non-CF bronchiectasis: clinical and HRCT evaluation.

Childhood bronchiectasis not related to underlying disease is still common in some populations in affluent countries. The aims of the study were to: 1) describe demographics, 2) evaluate the effectiveness of routine investigations, and 3) determine the relationship between spirometry and radiology scoring systems, in children with chronic suppurative lung disease (CSLD) living in Central Australia. Data of children living in Central Australia aged 70%) and early hospitalisation for pneumonia were common (median age, 0.5 years). Previous admissions for pneumonia were almost universally present and significantly more common than bronchiolitis (95% CI for proportional difference, 0.4-0.51). Although the majority did not have a treatable underlying cause, investigations had significant impact on management in 12.3% of children. None of the chest HRCT scores related to any spirometry data. In conclusion, CSLD is unacceptably common in indigenous children of this region, commences early in life, and is associated with significant comorbidities. Spirometry data do not reflect the severity of lung disease in HRCT scans. While improvement in the living standards is of utmost importance, the medical management that includes thorough investigations of these children should not be neglected.

Bronchoscopic findings in children with non-cystic fibrosis chronic suppurative lung disease.

BACKGROUND: Published data on the frequency and types of flexible bronchoscopic airway appearances in children with non-cystic fibrosis bronchiectasis and chronic suppurative lung disease are unavailable. The aims of this study were to describe airway appearances and frequency of airway abnormalities and to relate these airway abnormalities to chest high resolution computed tomography (cHRCT) findings in a cohort of children with non-cystic fibrosis chronic suppurative lung disease (CSLD). METHODS: Indigenous children with non-cystic fibrosis CSLD (>4 months moist and/or productive cough) were prospectively identified and collected over a 2.5 year period at two paediatric centres. Their medical charts and bronchoscopic notes were retrospectively reviewed. RESULTS: In all but one child the aetiology of the bronchiectasis was presumed to be following a respiratory infection. Thirty three of the 65 children with CSLD underwent bronchoscopy and five major types of airway findings were identified (mucosal abnormality/inflammation only, bronchomalacia, obliterative-like lesion, malacia/obliterative-like combination, and no macroscopic abnormality). The obliterative-like lesion, previously undescribed, was present in 16.7% of bronchiectatic lobes. Structural airway lesions (bronchomalacia and/or obliterative-like lesion) were present in 39.7% of children. These lesions, when present, corresponded to the site of abnormality on the cHRCT scan. CONCLUSIONS: Structural airway abnormality is commonly found in children with post-infectious bronchiectasis and a new bronchoscopic finding has been described. Airway abnormalities, when present, related to the same lobe abnormality on the cHRCT scan. How these airway abnormalities relate to aetiology, management strategy, and prognosis is unknown.

Application of chest high-resolution computer tomography in young children with cystic fibrosis.

SUMMARY. High-resolution computed tomography (HRCT) of the chest permits early detection of lung disease; two relevant scoring systems (Bhalla and Nathanson) have been developed to describe CF lung disease. Comparisons between the two scoring systems have not been made, and it is not known which system is more appropriate for young children, i.e., the age group where other objective markers are scarce. We reviewed the clinical findings, pulmonary function data, and HRCT of 16 children aged less than 12 years. The Bhalla scoring system had a better correlation with FEV(1) (r = -0.65, P = 0.012) than the Nathanson score (r = 0.53, P = 0.05). All children had bronchiectasis, including 5 with normal pulmonary function tests. The lower lobes were universally involved, and 5 children did not have any upper lobe disease. Four of these 5 children were aged less than 7 years. We conclude that the Bhalla scoring system is more applicable to young children than is the Nathanson system. Also, in this group of young children with CF, lower lobes are more commonly involved than upper lobes, which is in contrast to the classical teaching that CF lung disease begins in the upper lobes.

Autosomal recessive omodysplasia: report of three additional cases.

Three new cases of autosomal recessive omodysplasia (ARO) are reported. One shows a new finding of craniosynostosis. One is related to a patient previously reported in 1991. Another is the first report of a patient living in Australia. The clinical and radiological findings further consolidate the condition as a distinct and readily diagnosable autosomal recessive bone dysplasia with marked limb shortening and facial abnormalities. These cases bring the total reported to 17. Names used in earlier publications include rhizomelic bone dysplasia with club-like femora, familial generalised micromelia with dislocated radius and congenital micromelic dysplasia (Borochowitz type).

Orbitocranial penetration by a fern: case report.

OBJECTIVE AND IMPORTANCE: Cranial and orbitocranial penetration by organic foreign material is not infrequent. It is important to identify whether penetration has occurred and to localize and remove the organic foreign material. CLINICAL PRESENTATION: We report a 15-month-old patient who suffered orbitocranial penetration with the stem of a fern. The stem passed through the orbit, exiting via the superior orbital fissure. It continued through the middle cranial fossa to end in the posterior cranial fossa. INTERVENTION: The patient underwent surgery, and a modified Dolenc procedure was performed. The foreign body was identified in the prepontine cistern and was removed. An extradural approach was performed to the cavernous sinus and superior orbital fissure, and the remaining foreign body was removed. CONCLUSION: Retained intracranial wood should be removed. The radiological diagnosis can be difficult, and magnetic resonance imaging is the investigation of choice. Magnetic resonance imaging may not detect some cases of organic foreign material penetration.

Post-infectious bronchiolitis obliterans: clinical, radiological and pulmonary function sequelae.

Background. There are few data on clinical, chest radiograph (CXR) or pulmonary function sequelae in children with post-infectious bronchiolitis obliterans (BO) (pulmonary crepitations, abnormalities on CXR, CT, nuclear medicine scans, or bronchography, with a history of past pulmonary infection and in the absence of other underlying pathology). Objective. To analyse the methodology of diagnosis, long-term clinical imaging and pulmonary function sequelae of post-infectious BO in children. Materials and methods. Imaging (CXRs, CT and nuclear lung scans) and clinical histories of 19 children were analysed. Results. Clinical follow-up (mean 6.8 years), revealed a high incidence of continuing problems (asthma and bronchiectasis). Fixed airway obstruction was the most common pulmonary function sequela. The sequelae on follow-up (mean 5.8 years) CXR were classified into five patterns which are illustrated: unilateral hyperlucency of an enlarged lung/part of lung; complete collapse of the affected lobe; unilateral hyperlucency of a small or normal-sized lung; bilateral hyperlucent lungs and a mixed pattern of persistent collapse, hyperlucency and peribronchial thickening. Conclusion. Long-term observations in children with post-infectious BO should be undertaken to detect bronchiectasis and obstructive airway disease. Sequelae evident on CXR, other than those previously described, can be found. Bronchography and/or lung biopsy are not usually required for the diagnosis of post-infectious BO.

A new multiple malformation syndrome of Müllerian dysgenesis and conductive hearing loss with facial hypoplasia, bilateral forearm deformity, brachydactyly, spinal stenosis and scoliosis.

Multiple congenital malformations in a young girl with bilateral conductive hearing loss are described. Facial dysmorphic features include prominent supraorbital ridges, facial hypoplasia, facial asymmetry, downward-slanting palpebral fissures, high prominent nasal bridge with bifid nasal tip and a small lower jaw, and hypoplastic ear lobules with bilaterally narrow and oblique external auditory canals. Recognisable skeletal abnormalities include hypoplastic facial bones, hypoplastic clavicles, narrow and anteriorly sloping shoulders, bowing of both forearm bones, brachydactyly due to short metacarpals and hypoplastic terminal phalanges, thoracolumbar kyphoscoliosis, narrow transverse measurements of most vertebrae with prominent coccyx, spinal canal narrowing, hypoplasia of lower ilia, medially bowed femora, tibiae and fibulae and brachysyndactyly of the second, third and fourth toes bilaterally. Gynaecological evaluation revealed abnormalities of the Mullerian duct structures: urogenital sinus, a vestigial uterus, a posteriorly placed small but patent vagina and a septum at the vaginal introitus. The pattern of MCA probably refers to a new syndrome within the "community of syndromes" involving anomalies of the Mullerian duct structures, limbs, spine and external ears.

Infantile hepatic haemangioendothelioma.

Three cases of infantile hepatic haemangioendotheliomas are described. Two demonstrate the natural history of regression of this benign tumour with no associated complication. The last case demonstrates life-threatening complications, which included cardiac failure, thrombocytopenia, disseminated intravascular coagulation and bleeding. Imaging modalities with plain films, ultrasound, computed tomography and angiograms are presented. Pathological findings in two of the cases are also described.

Perinatal hypoxic-ischaemic brain injury: prediction of outcome.

Twenty-six term babies with hypoxic-ischaemic brain injury were studied during the neonatal period to evaluate the prediction of outcome to at least one year of age by means of ultrasonography, CT scanning and Doppler ultrasound assessment of cerebral palsy blood flow velocity (CBFV). Adverse outcome was defined as the occurrence of cerebral palsy, developmental delay or death. At follow-up, 17 infants had an adverse outcome (seven died, 10 had disability); the remainder had no detectable impairment. Abnormalities on cranial ultrasound were not, but generalised decreased tissue density on CT scan was, associated with adverse outcome. Abnormal mean CBFV in the middle cerebral artery had no association with outcome, but abnormal mean CBFV in the anterior cerebral artery and a low resistance index in both arteries were significantly associated with adverse outcome. Such information may be used for appropriate counselling of parents of asphyxiated infants.

Mineral deficiency in the pathogenesis of enamel hypoplasia in prematurely born, very low birthweight children.

Although it is well known that enamel hypoplasia commonly is observed in prematurely born, very low birthweight (VLBW) children, its pathogenesis is not understood clearly. One likely mechanism may be related to mineral deficiency, which may be diagnosed as radiological demineralization of the long bones. In this study, we compared the cortical area of the humerus as measured from neonatal radiographs in 31 VLBW children with enamel hypoplasia and 14 VLBW children without enamel hypoplasia. The results showed that children with enamel hypoplasia had a lower mean cortical area of 10.1 +/- 1.9 mm2 compared with 13.9 +/- 1.4 mm2 in children without enamel hypoplasia (P less than 0.001). It was also found that intubated children with a lower cortical mass may be more predisposed to develop localized enamel hypoplasia caused by the laryngoscope (P less than 0.001).

Lethal multiple pterygium syndrome: three consecutive cases in one family.

We report on three sib fetuses with the lethal multiple pterygium syndrome (LMPS), one case occurring in a twin pregnancy. All three fetuses had a cystic hygroma and hydrops was detected by ultrasound. The classification scheme for LMPS proposed by Hall [1984] is examined. With our present state of knowledge of this syndrome, subdivision on bone-fusion types does not appear to be justified. Antenatal detection by ultrasound is possible in most pregnancies with a second affected fetus because of cystic hygroma and hydrops. In the term or near-term infant in which ultrasound has not shown cystic hygroma or hydrops, a diagnosis of Pena-Shokeir type I syndrome should be considered because pterygia are a component of that syndrome but cystic hygroma and hydrops are not.

Accuracy of radiological diagnosis in the Casualty Department of a children's hospital.

The radiographs of 1363 patients referred from a hospital Casualty Department were reviewed in order to study possible discrepancies between the interpretations of the films by the casualty medical staff and the radiologist. Interpretations by casualty staff were substantially correct in 96.3% of patients. Discrepancies were noted in 41 patients (3.0%)--pneumonia was overlooked on chest films in 7 cases, while 19 fractures were not noted by Casualty staff. These were almost all minor, with no problems resulting from delay in treatment. This study has implications for the training of Casualty medical staff, the cross-checking of their reports, and the possible need for Casualty department staffing by radiologists.

The lumbar spinal canal in hypophosphataemic vitamin D-resistant rickets.

Lumbar spine radiographs of 17 adult patients with hypophosphataemic vitamin D-resistant rickets have been examined and measured in their anteroposterior and transverse dimensions. Comparison of these measurements with those of a group of normal individuals showed the HPR patient group to have narrower spinal canals in both diameters. No differences were found between males and females in either group. The lumbar spinal canal stenosis in adult HPR patients may make them more susceptible to spinal cord compromise from space occupying lesions within the canal, causing back pain and lower limb weakness for which surgical intervention may be indicated.

Spinal canal stenosis in adult with hypophosphataemic vitamin D-resistant rickets.

A case is described of a 55-year-old male with hypophosphataemic vitamin D-resistant rickets, who presented with long-standing back pain and paraesthesiae in both legs considered to be due to osteoid encroachment on an already narrow spinal canal. Marked symptomatic improvement has followed extensive lumbar laminectomy.