scholarly journals MR Imaging Characteristics and Neuropathology of the Spinal Cord in Adult-Onset Autosomal Dominant Leukodystrophy with Autonomic Symptoms

2008 ◽  
Vol 30 (2) ◽  
pp. 328-335 ◽  
Author(s):  
J. Sundblom ◽  
A. Melberg ◽  
H. Kalimo ◽  
A. Smits ◽  
R. Raininko
Keyword(s):  
Spinal Cord ◽  
Mr Imaging ◽  
Autosomal Dominant ◽  
Adult Onset ◽  
Autonomic Symptoms ◽  
Imaging Characteristics

Neurocognitive deficits and diffusion MR imaging abnormalities in a case of adult-onset autosomal dominant leukodystrophy

2013 ◽  
Vol 4 (4) ◽  
Author(s):  
Robert Laforce ◽  
Martin Roy ◽  
Maxime Descoteaux ◽  
Christian Berthelot ◽  
Jean-Pierre Bouchard
Keyword(s):  
White Matter ◽  
Mr Imaging ◽  
Autosomal Dominant ◽  
Hereditary Disease ◽  
Adult Onset ◽  
Neurocognitive Deficits ◽  
Cognitive Changes ◽  
Diffusion Mr ◽  
Lamin B1 ◽  
Diffusion Mr Imaging

AbstractAutosomal dominant adult-onset leukodystrophy (ADLD) is a progressive hereditary disease caused by duplication of Lamin B1 on chromosome 5q23.2. It is characterized by autonomic dysregulation, pyramidal signs, and cerebellar dysfunction. Since the first description in 1984, no authors have reported on its neurocognitive sequelae or attempted to quantify the severity of white matter changes. Herein we report a case of ADLD presenting with progressive cognitive changes leading to dementia and its associated white matter damage using diffusion MR imaging.

Lhermitte-Duclos disease mimicking adult-onset aqueductal stenosis

1994 ◽  
Vol 80 (6) ◽  
pp. 1095-1098 ◽  
Author(s):  
Shah N. Siddiqi ◽  
Michael G. Fehlings
Keyword(s):  
Mr Imaging ◽  
Benign Lesion ◽  
Aqueductal Stenosis ◽  
Cerebellar Hemisphere ◽  
Imaging Features ◽  
Adult Onset ◽  
Full Spectrum ◽  
Content Type ◽  
Weighted Image ◽  
Imaging Characteristics

✓ Lhermitte-Duclos disease is a rare lesion characterized by enlarged cerebellar folia containing abnormal ganglion cells. This case report describes a 51-year-old woman who was initially misdiagnosed as having adult-onset aqueductal stenosis. There were no abnormal findings on computerized tomography (CT), but subsequent magnetic resonance (MR) imaging showed a midline cerebellar lesion extending to the brain stem. This is a unique case of Lhermitte-Duclos disease arising within the cerebellar vermis. The characteristic feature of an enlarged cerebellar hemisphere is absent on CT scans; thus MR imaging is needed to confirm the diagnosis. If diagnosed late, this generally benign lesion becomes difficult to resect totally and has a poorer prognosis. Only two reports have mentioned the MR imaging characteristics of Lhermitte-Duclos disease; both described only T2-weighted images. This case illustrates the full spectrum of MR imaging features of this disease. Both T1- and T2-weighted studies showed enlarged cerebellar folia within the lesion. The T1-weighted image showed a mixed iso- and hypodense signal and the T2-weighted image a homogeneously increased signal; with gadolinium administration the lesion did not enhance. The latter feature supports the theory that this disease is a hamartoma rather than a tumor.

Hereditary Cerebral Small Vessel Diseases and Stroke: A Guide for Diagnosis and Management

Stroke ◽  
2021 ◽  
Author(s):  
Stéphanie Guey ◽  
Saskia A.J. Lesnik Oberstein ◽  
Elisabeth Tournier-Lasserve ◽  
Hugues Chabriat
Keyword(s):  
Differential Diagnosis ◽  
Hemorrhagic Stroke ◽  
Autosomal Dominant ◽  
Small Vessel ◽  
Adult Onset ◽  
Stroke Patients ◽  
Motor Disability ◽  
Imaging Characteristics ◽  
Key Features ◽  
Cerebral Small Vessel Diseases

Cerebral small vessel diseases represent a frequent cause of stroke and cognitive or motor disability in adults. A small proportion of cerebral small vessel diseases is attributable to monogenic conditions. Since the characterization in the late 1990s of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, several other monogenic conditions leading to adult-onset ischemic or hemorrhagic stroke have been described. In this practical guide, we summarize the key features that should elicit the differential diagnosis of a hereditary cerebral small vessel diseases in adult stroke patients, describe the main clinical and imaging characteristics of the major hereditary cerebral small vessel diseases that can manifest as stroke, and provide general recommendations for the clinical management of affected patients and their relatives.

Adult-onset autosomal dominant leukodystrophy with autonomic symptoms restricted to 1.5 Mbp on chromosome 5q23

2006 ◽  
Vol 141B (6) ◽  
pp. 608-614 ◽  
Author(s):  
Lena Marklund ◽  
Malin Melin ◽  
Atle Melberg ◽  
Vilmantas Giedraitis ◽  
Niklas Dahl
Keyword(s):  
Autosomal Dominant ◽  
Adult Onset ◽  
Autonomic Symptoms

scholarly journals Metachronous Multiplicity of Spinal Cord Arteriovenous Fistula and Spinal Dural AVF in a Patient with Hereditary Haemorrhagic Telangiectasia

2005 ◽  
Vol 11 (1) ◽  
pp. 79-82 ◽  
Author(s):  
J.C.M. Ling ◽  
R. Agid ◽  
S. Nakano ◽  
M.P.S. Souza ◽  
G. Reintamm ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Mr Imaging ◽  
Arteriovenous Fistula ◽  
Autosomal Dominant ◽  
Clinical Presentation ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
Spinal Angiography ◽  
Spinal Dural Avf ◽  
Spinal Avm

HHT (Hereditary Haemorrhagic Telangiectasia or Rendu Osler Weber disease) is a known autosomal dominant dysplasia. The first clinical presentation of HHT in a child may be a cerebral or spinal AVM. We present the case of a young boy with HHT who had a previous spinal cord AVF treated by surgical obliteration and then presented with a spinal dural AVF nine months later. This patient had surgical obliteration of a spinal cord perimedullary AVF and subsequently developed a new spinal dural AVF at a different level. The diagnosis was made by spinal MR imaging and spinal angiography

Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms

Neurogenetics ◽  
2011 ◽  
Vol 12 (1) ◽  
pp. 65-72 ◽  
Author(s):  
Jens Schuster ◽  
Jimmy Sundblom ◽  
Ann-Charlotte Thuresson ◽  
Sharon Hassin-Baer ◽  
Thomas Klopstock ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Adult Onset ◽  
Autonomic Symptoms ◽  
Lamin B1

Magnetic resonance imaging findings in treated spinal dural arteriovenous fistulas: lack of correlation with clinical outcomes

2011 ◽  
Vol 14 (4) ◽  
pp. 548-554 ◽  
Author(s):  
Timothy J. Kaufmann ◽  
Jonathan M. Morris ◽  
Andrea Saladino ◽  
Jay N. Mandrekar ◽  
Giuseppe Lanzino
Keyword(s):  
Spinal Cord ◽  
Mr Imaging ◽  
Clinical Outcomes ◽  
Imaging Findings ◽  
Urinary Function ◽  
Arteriovenous Fistulas ◽  
Imaging Characteristics ◽  
Dural Arteriovenous Fistulas ◽  
Spinal Dural Arteriovenous Fistulas

Object Little information is available on follow-up MR imaging after treatment of spinal dural arteriovenous fistulas (DAVFs). The authors studied MR imaging findings in treated spinal DAVFs in relation to clinical outcomes. Methods A retrospective review of patients with spinal DAVFs who had undergone both pre- and postoperative spinal MR imaging was conducted. Postoperative MR images were obtained as routine follow-up studies or because of subjective or objective clinical deterioration. Several pre- and posttreatment MR imaging characteristics were evaluated by 2 neuroradiologists blinded to the clinical outcome. Clinical outcomes of motor, sensory, and urinary function (in relation to the patient's preoperative status) at the time of the postoperative MR imaging were obtained from the clinical record. The chi-square, Fisher exact, and rank-sum tests were performed to correlate imaging findings and changes with clinical outcomes. Results Thirty-four patients met inclusion criteria. Treatment was surgical in 33 patients and endovascular in 1 patient. Follow-up MR imaging was performed at a mean 168 ± 107 days after treatment. Twenty-seven patients (79.4%) were either clinically stable or improved, and 7 (20.6%) experienced worsening in one or more clinical outcomes. Most patients were found to have improvement of MR imaging changes. However, some degree of persistent spinal cord signal abnormality, enhancement, and swelling was observed in 31 (91.2%), 29 (85.3%), and 18 (52.3%) patients, respectively. Changes in these MR imaging characteristics compared with preoperative MR imaging did not correlate with clinical outcomes (p > 0.05), with the one exception of a significant correlation between change in urinary function and extent of spinal cord contrast enhancement (p = 0.026), a correlation of uncertain importance. Ten of the 34 patients underwent posttreatment digital subtraction angiography, and 3 of these patients had recurrent/residual DAVFs. Worsening of motor function significantly correlated with recurrent/residual DAVF (p = 0.053). Conclusions Spinal cord abnormalities persist on postoperative MR imaging studies in patients with treated spinal DAVFs, and although they tend to mildly improve with time, these changes may not correlate with clinical outcomes. However, regardless of imaging findings, worsening motor function may correlate with a recurrent or residual DAVF.

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