Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review.

Genetic skeletal disorders (GSDs) are a heterogeneous group characterized by an intrinsic abnormality in growth and (re-)modeling of cartilage and bone. A large subgroup of GSDs has additional involvement of other structures/organs beside the skeleton, such as the central nervous system (CNS). CNS abnormalities have an important role in long-term prognosis of children with GSDs and should consequently not be missed. Sensitive and specific identification of CNS lesions while evaluating a child with a GSD requires a detailed knowledge of the possible associated CNS abnormalities. Here, we provide a pattern-recognition approach for neuroimaging findings in GSDs guided by the obvious skeletal manifestations of GSD. In particular, we summarize which CNS findings should be ruled out with each GSD. The diseases (n = 180) are classified based on the skeletal involvement (1. abnormal metaphysis or epiphysis, 2. abnormal size/number of bones, 3. abnormal shape of bones and joints, and 4. abnormal dynamic or structural changes). For each disease, skeletal involvement was defined in accordance with Online Mendelian Inheritance in Man. Morphological CNS involvement has been described based on extensive literature search. Selected examples will be shown based on prevalence of the diseases and significance of the CNS involvement. CNS involvement is common in GSDs. A wide spectrum of morphological abnormalities is associated with GSDs. Early diagnosis of CNS involvement is important in the management of children with GSDs. This pattern-recognition approach aims to assist and guide physicians in the diagnostic work-up of CNS involvement in children with GSDs and their management.

Extensively drug-resistant tuberculosis in a young child after travel to India.

Extensively drug-resistant (XDR) tuberculosis is becoming increasingly prevalent worldwide, but little is known about XDR tuberculosis in young children. In this Grand Round we describe a 2-year-old child from the USA who developed pneumonia after a 3 month visit to India. Symptoms resolved with empirical first-line tuberculosis treatment; however, a XDR strain of Mycobacterium tuberculosis grew in culture. In the absence of clinical or microbiological markers, low-radiation exposure pulmonary CT imaging was used to monitor treatment response, and guide an individualised drug regimen. Management was complicated by delays in diagnosis, uncertainties about drug selection, and a scarcity of child-friendly formulations. Treatment has been successful so far, and the child is in remission. This report of XDR tuberculosis in a young child in the USA highlights the risks of acquiring drug-resistant tuberculosis overseas, and the unique challenges in management of tuberculosis in this susceptible population.

Neonatal head ultrasonography today: a powerful imaging tool!

Head ultrasonography (HUS) remains an important tool in the initial evaluation of intracranial abnormalities in infants. In experienced hands, HUS is an outstanding tool to detect brain abnormalities in preterm and full-term infants, to follow the progression of these lesions, and to describe the maturation of the infant brain. We believe it is a safe and cost-efficient alternative to magnetic resonance imaging and computerized tomography in many cases. In this article we discuss the HUS techniques that are currently available and are now the standard of care, how to perform them, and what to look for. We describe a variety of findings that may be encountered including hemorrhagic complications of prematurity, hypoxic ischemic brain injury, neonatal stroke, infections, malformations, neoplasms, and a few more rare neonatal pathologies.

Diagnosis of rare association of orthotopic multicystic dysplasia with crossed fused renal ectopia.

Orthotopic multicystic dysplastic kidney with crossed fused ectopia is a rare congenital anomaly. This congenital anomaly may give an appearance of a solitary kidney morphology during the initial imaging evaluation. A solitary kidney should be carefully evaluated for the presence of duplication, horseshoe configuration, or crossed renal ectopy. Vesicoureteral reflux is a common finding associated with a multicystic dysplastic kidney. We present an infant with an orthotopic multicystic dysplastic kidney and an inferiorly placed crossed fused ectopic kidney. The presence of a complex congenital anomaly may warrant further evaluation with cross-sectional imaging to depict the anatomy and structure.

Clinicoradiological correlation of scoliosis in children with Jarcho-Levin and Escobar syndromes: associated "flat bone or wing-like" imaging findings.

UNLABELLED: Congenital or early onset scoliosis may be the lead clinical feature in several rare syndromes. In this paper, we present the imaging findings in two children with early onset scoliosis related to the Jarcho-Levin and Escobar syndromes and an osseous plate or wing-like bar extending along the posterior elements of the spine on computed tomography. The clinical phenotypes in these syndromes are variable. A thorough clinical evaluation with imaging correlation is essential. The recognition of underlying spinal anomalies is essential in planning treatment and estimating prognosis. In young children with progressive scoliosis, cross-sectional imaging plays a major role in the diagnostic work-up. CONCLUSION: Congenital scoliosis requires a comprehensive clinical evaluation and imaging work-up. The presence of an osseous plate or wing-like fusion of posterior elements of the spine may suggest the diagnosis of Jarcho-Levin and Escobar syndromes.

Acute ataxia in children: approach to clinical presentation and role of additional investigations.

Acute ataxia is a fairly common emergency that confronts the pediatric neurologist in daily life. The differential diagnosis of acute pediatric ataxia is wide, but informed history and careful clinical examination can narrow it and help target investigations. This review discusses various etiologies of acute pediatric ataxia, focusing on clinical presentation, diagnostic considerations, and approach to investigation. Aspects of treatment and prognosis are also mentioned. Diseases with potentially high morbidity and mortality, such as acute cerebellitis, opsoclonus-myoclonus syndrome, and cerebellar stroke, receive particular attention.

Spontaneous resolution of diffuse persistent pulmonary interstitial emphysema.

Persistent pulmonary interstitial emphysema (PPIE) is a rare condition that occurs in both preterm and term infants. It is thought to arise from a disruption of the basement membrane of the alveolar wall allowing air entry into the interstitial space. The characteristic CT scan appearance of PPIE can be used to differentiate it from other congenital cystic lesions that may present similarly. Although conservative management is accepted as the initial form of management in most cases, a review of the published literature found that a significant proportion of localized PPIE cases eventually require surgical resection. This case illustrates that extensive bilateral PPIE associated with a persistent pneumomediastinum can resolve spontaneously thus demonstrating that conservative management without surgical intervention may be appropriate for some children.

Unusual migration of the distal catheter of a ventriculoperitoneal shunt into the heart: case report.

OBJECTIVE AND IMPORTANCE: Placement of a ventriculoperitoneal (VP) shunt is the most common form of treatment for hydrocephalus. Thoracic complications with VP shunts are rare, but we present the second documented case of the distal migration of the distal catheter of a VP shunt into the heart. CLINICAL PRESENTATION: A 14-year-old boy, who underwent placement of a right occipital VP shunt at another institution after closed-head injury, presented with hypertension. Plain chest x-rays and computed tomography revealed the distal catheter to be in the right ventricle of the heart. INTERVENTION: A joint surgical procedure was performed with the cardiac surgery team. The cardiac surgeons created a pericardial window through a subxyphoid incision. Simultaneously, a right occipital incision was made to access the distal catheter, which was then slowly pulled out with the pericardium under direct visualization. No hemorrhage or change in the pericardium was observed, and, therefore, the need for a thoracotomy was eliminated. A new distal catheter was placed into the peritoneal cavity. CONCLUSION: The migration of the distal catheter probably occurred during the initial VP shunt placement. The internal jugular vein probably was perforated by the tunneler during the creation of the distal catheter tract. Slow venous flow and negative inspiratory pressure may have gradually pulled the catheter up into the right atria and ventricle. As demonstrated by our case report, the catheter can be extracted safely in a joint procedure with cardiac surgeons, and a thoracotomy is not always necessary. The patient did not experience postoperative complications, and his hypertension was alleviated.