Clinical and imaging features of cortical malformations in childhood.

OBJECTIVE: To determine the types, relative frequencies, clinical features, and MRI characteristics of malformations of cortical development (MCD) occurring in a cohort of children referred to a tertiary pediatric center. METHODS: Original MR images were reviewed by two investigators, who were blinded to clinical details, to determine the elemental imaging features of each malformation and to label these malformations according to an existing system of classification. Clinical information was collected by a review of hospital records. RESULTS: A total of 109 children with MCD were identified. There were 58 boys and 51 girls, age 8 days to 18 years at initial imaging (mean age, 5 years). Seizures were present in 75%, developmental delay or intellectual disability in 68%, abnormal neurologic findings in 48%, and congenital anomalies apart from the CNS malformation in 18%. The main malformations identified were heterotopic gray matter (19%), cortical tubers (17%), focal cortical dysplasia (16%), polymicrogyria (16%), agyria/pachygyria (15%), schizencephaly/cleft (5%), transmantle dysplasia (5%), and hemimegalencephaly (4%). Eight patients had features of more than one malformation. Most lesions were multilobar (47%), with the frontal lobe being the most common lobe involved (78%). A total of 68% of patients had other cerebral malformations including ventricular dilatation or dysmorphism (46%) and abnormalities of the corpus callosum (29%). CONCLUSIONS: This study illustrates the spectrum of MCD in a pediatric cohort and highlights some of the differences between pediatric and adult patients. Patients with MCD presenting in childhood have a wider spectrum of malformations and more varied, often more severe, clinical manifestations. The lesions are frequently multifocal or generalized and many are associated with noncortical developmental brain anomalies.

Stroke and fibromuscular dysplasia: confirmation by renal magnetic resonance angiography.

Childhood stroke is uncommon and may require extensive evaluation to elucidate an underlying cause. A 9-year-old boy had clinical and magnetic resonance imaging (MRI) features of an ischemic event in the left middle cerebral artery territory. Magnetic resonance angiography (MRA) revealed beading of the left middle cerebral artery, consistent with irregular blood flow secondary to turbulence or luminal narrowing. Conventional angiography of the cerebral vessels confirmed the findings of cerebral MRA and raised further the suspicion of fibromuscular dysplasia (FMD). MRA of the renal vessels was subsequently performed, revealing beading of the left renal artery and confirming the diagnosis of FMD. MRA, a rapid and less invasive technique associated with far less morbidity and mortality as compared with conventional angiography, may prove to be as sensitive as conventional angiography in detecting the changes of FMD. MRA of the renal arteries should be performed with initial cranial MRI and MRA in children who present with cerebral infarction of possible vascular origin. This may obviate the need to perform further investigations and may make early diagnosis possible at the first MRI scan and under a single general anesthetic.

Lower airway inflammation in infants and young children with cystic fibrosis.

Airway inflammation is an important component of cystic fibrosis (CF) lung disease. To determine whether this begins early in the illness, before the onset of infection, we examined bronchoalveolar lavage (BAL) fluid from 46 newly diagnosed infants with CF under the age of 6 mo identified by a neonatal screening program. These infants were divided into three groups: 10 had not experienced respiratory symptoms or received antibiotics and pathogens were absent in their BAL fluid; 18 had clear evidence of lower respiratory viral or bacterial (> or = 10(5) CFU/ml) infection; and the remaining 18 had either respiratory symptoms, taken antibiotics, or had < 10(5) CFU/ml of respiratory pathogens. Their BAL cytology, interleukin-8, and elastolytic activity were compared with those from 13 control subjects. In a longitudinal study to assess if inflammation develops or persists in the absence of infection, the results of 56 paired annual BAL specimens from 44 CF infants were grouped according to whether they showed absence, development, clearance, or persistence of infection. In newly diagnosed infants with CF, those without infection had BAL profiles comparable with control subjects while those with a lower respiratory infection had evidence of airway inflammation. In older children, the development and persistence of infection was accompanied by increased inflammatory markers, whereas these were decreased in the absence, or with the clearance, of infection. We conclude that airway inflammation follows respiratory infection and, in young children, improves when pathogens are eradicated from the airways.

Paediatric tracheobronchomalacia and its assessment by tracheobronchography.

Tracheobronchomalacia (TBM) is a rare condition that results in abnormal compliance of the airways with airway collapse being most marked in expiration. In a series of 28 patients, it was observed that a majority of cases presented with malacia involving the trachea (64%) and the left main bronchus (64%) alone. The right main bronchus was involved in combination with the trachea in 32%, but rarely was involved by itself. Most patients demonstrated associated congenital abnormalities, such as tracheo-oesophageal fistulae, vascular rings or congenital heart disease (78%). A small proportion were premature infants with no obvious associated abnormality (11%). Evaluation of the dynamic process, tracheobronchomalacia; requires 'real-time' investigation. While computed tomography (CT) and magnetic resonance imaging (MRI) have their role in the management of chronic airway obstruction in the child, only cine-CT, bronchoscopy, fluoroscopy and tracheobronchography provide real-time assessment for the evaluation of a dynamic process such as TBM. In our experience, tracheobronchography provides excellent anatomic, physiologic and therapeutic information in the assessment of those infants with primary or secondary TBM. By using continuous positive airway pressure in incremental doses, the amount of positive pressure required to maintain an open airway in expiration is a valuable adjunct to the clinical management of the patient. When careful attention is paid to technique, tracheobronchography is a safe investigation in experienced hands.

Intracranial arteriovenous malformations in childhood: presentation, management and outcome.

Cases of true intracranial arteriovenous malformations (AVMs) presenting over a 25 year period were reviewed in order to achieve a better understanding of the behaviour and management of AVMs in children. There were 69 cases, presenting with haemorrhage (78%), seizures (13%) cardiac failure (3%) and focal signs with or without headache (6%). It was less common to present under six years of age. CT scanning, where performed, always demonstrated an abnormality, but this was suggestive of an AVM in less than one third. By contrast, angiography defined the lesion in 82% of initial studies. 59 patients underwent a surgical procedure directed at their AVM or an associated haematoma. Total AVM excision was obtained in 65%, with none of these later rebleeding. Three patients presenting solely with seizures were not operated upon initially, but underwent successful resections of their lesions after later haemorrhages. There were 6 (9%) deaths in the series, with focal deficits in 52% of survivors at last follow up. In the operative group these figures were 3% and 51%, respectively. None of the eight patients operated upon prior to a clinical bleed suffered a new neurological deficit. The role of stereotactic radiosurgery, although not used in any of our cases, is discussed. We believe that our results support an aggressive surgical approach to childhood AVMs, regardless of presentation, given the significant risk of morbidity from a later bleed, and the lack of a clearly better outcome with expectant management or irradiation.

Autosomal recessive hydrocephalus with third ventricle obstruction.

Here we report a brother and sister who presented in the neonatal period with hydrocephalus. Ultrasonography showed marked dilatation of the lateral ventricles but not the third ventricle. One child with postnatal onset was shunted and had normal development at 3 years. The other child had severe hydrocephalus at birth and was not treated. Neuropathologic studies demonstrated dilatation of the lateral ventricles and marked narrowing of the posterior part of the third ventricle but no other malformations other than those that result directly from hydrocephalus. The potential for a good prognosis is emphasized.