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previously visited 2 YEAR OLD MALE WITH HISTORY OF MACROCRANIA AND DEVELOPMENTAL DELAY Random Case
Authored By: Faculty and residents Children's Hospital, Radiologist, Children's Health System, Birmingham, Alabama., USA.
Patient: 2 year old male
History: 2 year old male with history of macrocrania and developmental delay.
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Fig. 1: Axial T2 image demonstrate periventricular enlarged Virchow Robin space.

Fig. 2: Axial T2 image demonstrate periventricular enlarged Virchow Robin space.

Fig. 3: Coronal T2 image demonstrate periventricular enlarged Virchow Robin space.

Fig. 4: Sagittal Flair image demonstrate periventricular enlarged Virchow Robin space.

Fig. 5: Sagittal Flair image demonstrate periventricular enlarged Virchow Robin space.
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Findings: MR of the brain demonstrate multiple enlarged Virchow Robin spaces mostly in the periventricular location.
DDx: 1. Mucopolysacchridosis
2. Cryptococcal infection
3. Leukodystrophy
Diagnosis: Probable mucopolysacchridosis.
Discussion:

Mucopolysacchridosis

            Lysosomal storage disorder resulting from deficient enzyme

                        GAGs deposits in lysosomes and interfere with degradation

                        GAGs accumulate in cells and excreted in urine

            Clinical features - varies with type

                        most patients have macrocephaly

                        developmental retardation - prominent in type I, II, III, and VII

                        skeletal involvement prominent in types IV and VI

            Imaging features

                        general - delayed myelination, atrophy, varying degrees of hydrocephalus

                        white matter changes

                                    CT - diffuse low attenuation w/i cerebral white matter

                                    MR - diffuse areas of T1 & T2 prolongation

                        sharply defined foci in corpus callosum, basal ganglia, and cerebral white matter

                                    iso to CSF on all sequence

                                    enlarged perivascular (Virchow-Robin) spaces

                                    progress to become larger and more diffuse like leukodystrophy

                        atrophy & white matter changes earliest in type I, II, III, and VII

                                    later in life in type IV and VI

                        spinal abnormality - may lead to cord compression

                                    frequently occurs in type IV and VI

                                    C1-2 atlantoaxial subluxation

                                                from laxity of transverse ligament or hypoplasia/absence of odontoid

                                                chronic subluxation may lead to ligamentous hypertrophy

                                                            MR - shortened odontoid w/ soft tissue mass

                                    C1 and C2 dural thickening

                                    thoracic vertebral body gibbus deformity (Morquio most common)

References: Barkovich et al. Pediatric Neuroimaging. pg 134-137; 4th ed. Lippincott Williams & Wilkins 2005.
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Additional Details:

Case Number: 11543327Last Updated: 05-06-2008
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Anatomy: Cranium and Contents   Pathology: Congenital
Modality: MRAccess Level: Readable by all users
Contained in: CNELLAIAPPAN
Case has been viewed 902 times.

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