Distinctive pattern of restricted diffusion in a neonate with molybdenum cofactor deficiency
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CASE REPORT
Distinctive pattern of restricted diffusion in a neonate with molybdenum cofactor deficiency Nicholas V. Stence & Curtis R. Coughlin II & Laura Z. Fenton & Janet A. Thomas
Received: 14 June 2012 / Revised: 4 October 2012 / Accepted: 25 October 2012 / Published online: 19 December 2012 # Springer-Verlag Berlin Heidelberg 2012
Abstract We present a neonate with molybdenum cofactor deficiency imaged at presentation during the first month of life and at 5 months with diffusion-weighted brain MRI. While the imaging features of this disease have previously been reported, this case highlights a distinctive initial pattern of widespread restricted diffusion involving cortex at the depths of sulci. Other case series have published diffusionweighted images (DWI) with this pattern but never specifically commented on this finding. This distinct DWI pattern also accounts for the configuration of ulegyria frequently described on later imaging. Early recognition of this unique initial DWI pattern could avoid misdiagnosis and better direct counseling and management. Keywords Molybdenum cofactor deficiency . Diffusion-weighted imaging . Cystic encephalomalacia . Ulegyria
intractable epilepsy. The diagnosis of MoCo deficiency may be initially under-recognized, as the clinical and brain MRI findings may be misdiagnosed as hypoxic-ischemic injury [1, 2]. We present a neonate with a typical clinical course of MoCo deficiency. Initial brain MRI demonstrated a distinctive pattern of widespread restricted diffusion involving cortex at the depths of sulci, with relative sparing of peripheral cortex. While several published case series have reported on MRI findings in MoCo deficiency, we could find no reports specifically describing this particular DWI pattern. Additionally, previously published diffusion-weighted images in case series of this disorder have demonstrated this specific appearance [2, 3]. This early pattern of restricted diffusion also explains the chronic pattern of ulegyria that has been previously described [1–3].
Case report Introduction Molybdenum cofactor (MoCo) deficiency is a rare metabolic disorder that typically presents in the neonatal period with N. V. Stence (*) : L. Z. Fenton Department of Radiology, Children’s Hospital Colorado, University of Colorado Denver, 13123 East 16th Ave., B125, Aurora, CO 80045, USA e-mail: [email protected] C. R. Coughlin II : J. A. Thomas Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Denver, Aurora, CO, USA
An infant female was born to non-consanguineous parents following an unremarkable pregnancy. The infant presented at 26 days of life to an outside hospital with lethargy and was noted to have infantile spasms. Pharmacological management of the seizures was initiated at 26 days of life with little success. Brain MRI was performed on day 27 at an outside institution. A distinctive pattern of cortical restricted diffusion affected the depths of sulci in the majority of the right cerebral hemisphere and
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