Priya Lakshmi,  Illimoottil Mathew,  Errampalli Eric,  Kosaraju Sriya,  Orscheln Emily

Final Pr. ID: Poster #: EDU-085

Metachromatic leukodystrophy is an autosomal recessive lysosomal storage disorder that primarily affects the white matter tracts of the central nervous system. This occurs due to the build up of sulfatides, which leads to demyelinating disease in the brain. On T2 weighted MR imaging, this disorder often exhibits hyperintense periventricular white matter sparing of the subcortical U-fibers. One may also see hypointense stripes and dots within the affected areas. This is commonly referred to as the tigroid or leopard pattern and is a result of peri-vascular sparing. Other features include low signal on T1 weighted images and typically no enhancement on contrast-enhanced T1 weighted images. Metachromatic leukodystrophy can also lead to sulfatide buildup in organs outside the central nervous system, such as the gallbladder, and lead to gallbladder polyposis. This educational exhibit will provide a comprehensive review of the imaging features of metachromatic leukodystrophy, discuss the clinical categorization, and will highlight some of the most common differential diagnoses. Read More

Authors:  Priya Lakshmi , Illimoottil Mathew , Errampalli Eric , Kosaraju Sriya , Orscheln Emily

Keywords:  Metachromatic leukodystrophy

Kaloianova Maria,  Naidoo Jaishree,  Thomson Heather,  Bhengu Louisa

Final Pr. ID: Poster #: CR-002

Krabbe disease is an autosomal recessive leukodystrophy that presents clinically with regression of milestones, excessive irritability and inconsolable crying. The pathologic basis of the disease is due to abnormal myelin metabolism resulting from a deficiency in the galactocerebrosidase enzyme with subsequent white matter destruction.
Although optic atrophy is a classic presentation of Krabbe disease, we report two patients who are biological brothers presenting with optic nerve enlargement in addition to other typical MR imaging features of Krabbe disease, thereby confounding the initial diagnosis.

Krabbe disease, also known as globoid cell leukodystrophy, is a lysosomal function disorder which ultimately results in demyelination and dysmyelination of white matter.
Worldwide incidence of Krabbe disease has been shown to be 1 in 100 000-200 000, with 1 in 150 000 live births reported in Europe (1, 2). The incidence in the South African population has not been well established.

Case Report 1:
Patient 1 presented in February 2012 to the paediatric neurodevelopmental clinic at 7 months of age with excessive inconsolable crying, regression of milestones, numerous café au lait macules and large eyes. Birth history was non-contributory.
MRI of the brain was done, demonstrating hypertrophy of the optic nerves and multiple other cranial nerves bilaterally (see figure 1).
High signal intensities were noted within the white matter of the brachium pontis, cerebellar dentate nuclei and corona radiata with a significant background of cortical and white matter atrophy (see figure 2).

Patient 1 died at one year of age with a provisional diagnosis of Neurofibromatosis I (NFI). No specific tests for Krabbe disease were performed prior to his death.

Case Report 2:
Patient 2 presented in November 2014 at 5 months of age with regression of milestones, excessive crying which was difficult to soothe, numerous café au lait macules, large eyes and a relative macrocephaly. Birth history was non-contributory and the child developed normally up until 3 months of age.
Blood tests for amino acids and organic acids, as well as liver and renal functions were normal. CSF lactate and glycine levels were also normal.

Specific enzyme testing for Krabbe disease was performed for patient 2 in Philadelphia, United States. Results revealed the galactocerebrosidase enzyme value to be very low (0.07). This is in the range of patients affected with Krabbe disease.
Patient 2 died shortly after the diagnosis of Krabbe disease was confirmed.

MRI brain scan of patient 2 demonstrated markedly hypertrophied optic nerves (see figures 3 and 4). Increased T2 and T2 Flair signal intensities of the white matter of the brachium pontis and the cerebellar dentate nuclei (see figure 5). The midbrain, pons and cerebellum also demonstrated increased T2 and T2 Flair signal intensities with a significant background of cortical and white matter atrophy (see figure 6).

PLEASE NOTE: the discussion related to Krabbe disease in this case review has not been included here due to charachter limitations. In addition, 6 images in total will be included should this case report be accepted for presentaton. Read More

Authors:  Kaloianova Maria , Naidoo Jaishree , Thomson Heather , Bhengu Louisa

Keywords:  Krabbe disease, leukodystrophy, globoid cell leukodystrophy, optic nerve enlargement

Vorona Gregory,  Mahdi Eman,  Ritter Ann,  Henry Chrisopher,  Rao Sanjai,  Richard Hope,  Urbine Jacqueline

Final Pr. ID: Poster #: CR-024

The purpose of our case series is to review the imaging, clinical, and pathologic findings of two adolescent patients that presented to our medical center who were ultimately found to have the juvenile/young adult (Prust Type II) form of Alexander Disease.

The first patient was an eleven year old male with presumed conversion disorder who was transferred from a pediatric residental mental health clinic after a suspected aspiration event. The parents reported that the patient had difficulty swallowing for years, that had worsening significantly over the preceding six months. A non-enhanced head CT was performed shortly after the patient was admitted due to a change in mental status, which revealed a focal abnormality at the cervicomedullary junction. Subsequent assessment with MRI confirmed the lesion, which demonstrated corresponding T2/FLAIR signal hyperintensity and enhancement, with the presumptive initial diagnosis of a cervicomedullary tumor. The patient was biopsied at an outside institution, and was diagnosed with Alexander Disease by that institution.

The second patient was a twelve year old male with history of cleidocranial dysplasia, in which extensive signal abnormality and enhancement was first identified throughout the posterior fossa structures on an outpatient MRI of brain obtained for paroxysmal episodes of dizziness. A small amount of signal abnormality in the periventricular white matter was also present. The patient was initially worked up and treated for a neuroinflammatory disorder, and a biopsy was performed when there was further worsening of the patient’s symptoms. A mutation in the patient's GFAP gene was subsequently identified of “uncertain significance”.

Juvenile/young adult (Prust Type II) Alexander Disease is a rare leukodystrophy, which is associated with a different set of imaging characteristics compared with the more classic infantile/juvenile (Prust Type I) form. Radiologists who regularly interpret pediatric neuroimaging studies should be aware of its existence and its spectrum of associated imaging findings, in the interest of both arriving at the correct diagnosis and in avoiding unnecessary brain biopsy. Read More

Authors:  Vorona Gregory , Mahdi Eman , Ritter Ann , Henry Chrisopher , Rao Sanjai , Richard Hope , Urbine Jacqueline

Keywords:  Alexander, leukodystrophy

Richards Morgan,  Riedesel Erica,  Richer Edward

Final Pr. ID: Poster #: CR-009

5 yo male with PMHx significant only for autism presented to ED with acute abdominal pain, hematemesis, and melena. Patient was tachycardic but normotensive with Hgb 5.6 g/dL (normal 11.5 – 13.5 g/dL) requiring transfusion. Patient was also jaundiced with scleral icterus, markedly elevated liver enzymes, and direct hyperbilirubinemia. Abdominal X-ray and Abdominal US did not demonstrate significant bowel pathology. However, gallbladder was abnormal with thickened, hyperemic wall and abundant internal debris. Common bile duct was massively dilated to the level of ampulla and filled with heterogeneous, avascular debris. No cholelithiasis or mass was demonstrated. Based on US, a differential diagnosis of cholecystitis, cholangitis, or choledochal cyst complicated by hemobilia was offered. MRI demonstrated dilated central intrahepatic and extrahepatic bile ducts containing layering T1 bright, T2 dark material. On arterial post-contrast images, the right hepatic artery was immediately adjacent to dilated common hepatic duct and blush of enhancement was seen concerning for active hemorrhage into type 4b choledochal cyst. The patient proceeded to diagnostic angiography, which was unable to demonstrate a site of arterial bleeding. Biliary drain was placed across the choledochal cyst with initial drainage of bloody material followed by drainage of bile. Patient subsequently underwent open cholecystectomy. Pathology demonstrated "mucinous papillary proliferation with increased histiocytes in lamina propria, consistent with gallbladder changes in Metachromatic Leukodystrophy (MDL)." Subsequent brain MRI demonstrated classic findings of MDL. Read More

Authors:  Richards Morgan , Riedesel Erica , Richer Edward

Keywords:  Metachromatic Leukodystrophy, Gallbladder, Hemobilia

Lorentz Liam

Final Pr. ID: Poster #: CR-020

Introduction

Leukodystrophy with vanishing white matter (VWM), previously known as childhood ataxia with central hypomyelination (CACH) is considered one of the most prevalent inherited white matter disorders.<span style="font-size:11px"> </span>The incidence of VWM is not well defined, however, there appears to be a predilection for Caucasians.

Clinical history

We report a 20 month old male with a two week history of right hemiplegia and ataxic gait. Infant is well grown with no previous medical or familial history of note. Normal development and unremarkable birth history.

MRI findings

Brain MRI demonstrates multiple T2 hyperintense periventricular deep white matter cavitating lesions with cortical sparing (fig 2, top arrow). These lesions were of CSF signal intensity on FLAIR and demonstrated differential water content; central hypointensity with peripheral hyperintesity (fig 3). There is no restricted diffusion centrally, however, the peripheral areas that are hyperintense on FLAIR were restricting. The temporal lobes are unaffected. Single, non-enhancing cerebellar white matter hyperintensity (non-cystic) within right hemisphere (fig 2, bottom arrow); no cerebellar or brainstem atrophy. White matter involvement of the corpus callosum with outer rim sparing (fig 1). There is no hydrocephalus and no basal ganglia involvement. Read More

Authors:  Lorentz Liam

Keywords:  Leukodystrophy, Vanishing White Matter