11 MO MALE W/ HEPATOSPLENOMEGALY AND COARSE FACIAL FEATURES

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11 MO MALE W/ HEPATOSPLENOMEGALY AND COARSE FACIAL FEATURES

Random Case

Authored By: Alexi Phinney, Radiologist, Virginia Mason Medical Center, Washington, USA.

Patient: 11 month old male

Images:


Fig. 1: Axial T1 shows dilated perivascular spaces.


Fig. 2: Axial T2 shows the signal of these lesions following that of CSF


Fig. 3: Sagittal T1 -- interesting how it clearly affects the corpus callosum


Fig. 4: Coronal T2


Fig. 5: Axial T1. This process can clearly be regional; note the posterior distribution in this example from Osborn's Diagnostic Neuroradiology (1994)


Fig. 6: T2, from Osborn's Diagnostic Neuroradiology (1994)


Fig. 7: Ohmigosh, this can be diagnosed on US! Note the striking stripe-like basal ganglia echogenicities. From Osborn's Diagnostic Neuroradiology (1994)


Fig. 8


Fig. 9: Not all periventricular cysts are Hurler's! Here's a case of periventricular leukomalacia from Kirks, Practical Pediatric Imaging p. 157 (1998)


Fig. 10: Here's an example in an adult of non-enhancing basal ganglia perivascular gelatinous pseudocysts of cryptococcosis. These are dilated Virchow-Robin spaces filled with cryptococcus organisms. (The enhancing lesions are toxoplasmosis.) (from Brant and Helms, Fundamentals of Diagnostic Radiology, 1994 ed.)

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Discussion:

This now 11 mo male presented at about four months of age, there was concern about skull abnormalities. The child had a CT scan which showed findings consistent with a coronal synostosis. Then he was noted to have hepatosplenomegaly which was confirmed by abdominal ultrasound and later kyphosis. Soon thereafter, coarse facial features were noted and this lead to a genetics evaluation. Urinary mucopolysaccharides were elevated, leukocyte enzyme assays confirmed a deficiency of alpha-L-iduronidase.

Multiple MR sequences demonstrate periventricular and deep white matter perivascular cystic changes consistent with the diagnosis. Thickened dura and communicating hydrocephalus (often seen) are not appreciated in this case.

DDx(based on imaging alone:
toxoplasmosis
cytomegalovirus infection
trisomy 13
lysosomal storage disease
cryptococcosis [would be worse case I've ever seen - usually just enlarged Virchow-Robin spaces]

Comments:

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