Objective: To expand the clinical phenotype of autosomal dominant congenital spinal muscular atrophy with lower extremity predominance (SMA-LED) due to mutations in the dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) gene.
Methods:Patients with a phenotype suggestive of a motor, non-length-dependent neuronopathy predominantly affecting the lower limbs were identified at participating neuromuscular centers and referred for targeted sequencing of DYNC1H1.Results: We report a cohort of 30 cases of SMA-LED from 16 families, carrying mutations in the tail and motor domains of DYNC1H1, including 10 novel mutations. These patients are characterized by congenital or childhood-onset lower limb wasting and weakness frequently associated with cognitive impairment. The clinical severity is variable, ranging from generalized arthrogryposis and inability to ambulate to exclusive and mild lower limb weakness. In many individuals with cognitive impairment (9/30 had cognitive impairment) who underwent brain MRI, there was an underlying structural malformation resulting in polymicrogyric appearance. The lower limb muscle MRI shows a distinctive pattern suggestive of denervation characterized by sparing and relative hypertrophy of the adductor longus and semitendinosus muscles at the thigh level, and diffuse involvement with relative sparing of the anteriormedial muscles at the calf level. Proximal muscle histopathology did not always show classic neurogenic features.
Conclusion:Our report expands the clinical spectrum of DYNC1H1-related SMA-LED to include generalized arthrogryposis. In addition, we report that the neurogenic peripheral pathology and the CNS neuronal migration defects are often associated, reinforcing the importance of DYNC1H1 in both central and peripheral neuronal functions. Neurology ® 2015;84:668-679 GLOSSARY ADHD 5 attention deficit hyperactivity disorder; BICD2 5 bicaudal D homolog 2 (Drosophila); CBCL 5 Child Behavior Checklist; DYNC1H1 5 dynein, cytoplasmic 1, heavy chain 1; LED 5 lower extremity predominance; Loa 5 legs at odd angles; MCD 5 malformation of cortical development; SMA 5 spinal muscular atrophy.
BACKGROUND AND PURPOSE:Although most infants with brachial plexus palsy recover function spontaneously, approximately 10 -30% benefit from surgical treatment. Pre-operative screening for nerve root avulsions is helpful in planning reconstruction. Our aim was to compare the diagnostic value of CT myelography, MR myelography, and both against a surgical criterion standard for detection of complete nerve root avulsions in birth brachial plexus palsy.
The cavum septum pellucidum (CSP) is an important fetal midline forebrain landmark, and its absence often signifies additional underlying malformations. Frequently detected by prenatal sonography, absence of the CSP requires further imaging with pre- or postnatal MRI to characterize the accompanying abnormalities. This article reviews the developmental anatomy of the CSP and the pivotal role of commissurization in normal development. An understanding of the patterns of commissural abnormalities associated with absence of the CSP can lead to improved characterization of the underlying spectrum of pathology.
Renal transplantation is the treatment of choice for end-stage renal disease in children. As a technically demanding surgery with complex medical management, it is associated with a number of complications. Anatomic imaging including ultrasonography with color and spectral Doppler and functional assessment with renal perfusion scintigraphy are complementary for the detection and characterization of posttransplant complications. Complications can be characterized by the time of appearance after transplantation (immediate, early, or late) or the anatomic site of origin (perinephric, vascular, urologic, or renal parenchymal). Perinephric fluid collections include hematomas and seromas, abscesses, lymphoceles, and urinomas. Noninfected collections frequently resolve spontaneously but should be monitored to exclude progression. Vascular complications are more prevalent in pediatric patients because of the small vessel caliber and include vascular thrombosis and stenosis. Arteriovenous fistulas and pseudoaneurysms can complicate biopsy and are typically transient. Common urologic complications include urine leak and urinary tract obstruction. Renal perfusion scintigraphy can be invaluable in elucidating the nature of such complications. Renal parenchymal abnormalities include acute tubular necrosis, rejection, and toxic effects of medication. Imaging features of renal parenchymal abnormalities can overlap, and the primary role of imaging is to exclude alternative causes of renal dysfunction. Renal and nonrenal mass lesions are more common in immunosuppressed patients after transplantation. Familiarity with the normal imaging appearance of the renal allograft and the appearances of common complications facilitates accurate diagnosis and timely treatment, with the ultimate goal of increasing graft survival. This goal is particularly crucial in children, given their greater number of projected life years.
Patients with PTCD have highly characteristic temporal bone and cranial nerve findings on both CT and MR. Recognition of these findings is important for improved diagnosis of this rare disorder, particularly by CT.
OBJECTIVE. The purpose of this article is to provide a comprehensive overview of the imaging of brachial plexus palsy, including both pathologic conditions of the spine and shoulder and clinical background and management. CONCLUSION. Brachial plexus birth palsy can result in permanent disability and limb deformity. Identifying the lesion type and associated sequelae is important in clinical management aimed at optimizing outcome. The imaging algorithms used are guided by clinical presentation and are designed to assess the extent of injury to guide possible surgical intervention.
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