The Clinical neuropsychologist
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Case Reports
Maple syrup urine disease (MSUD): a case with long-term follow-up after liver transplantation.
Maple syrup urine disease (MSUD) is a rare hereditary metabolic condition where the body is unable to breakdown amino acids causing toxic buildup. Acute and long-term management of MSUD involves a restricted diet and regular monitoring of amino acid levels; however, more recently liver transplants have been shown to be successful in treating this condition. Even with successful management of MSUD there is evidence from pediatric cases that shows a distinct pattern of neurocognitive deficits associated with this condition, including impaired nonverbal skills and psychomotor functioning with relatively intact verbal abilities. ⋯ The patient also showed reduced adaptive functioning and mild anxiety. This case demonstrates neurocognitive deficiencies within the context of normal magnetic resonance imaging. The possible underlying mechanism of this neuropsychological profile is discussed in relation to other neurodevelopmental models.
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Current combat veterans are exposed to many incidents that may result in mild traumatic brain injury (mTBI) and/or posttraumatic stress disorder (PTSD). While there is literature on the neuropsychological consequences of PTSD only (PTSD-o) and mTBI alone (mTBI-o), less has been done to explore their combined (mTBI+PTSD) effect. The goal of this study was to determine whether Operation Iraqi Freedom (OIF) and Operation Enduring Freedom (OEF) veterans with mTBI+PTSD have poorer cognitive and psychological outcomes than veterans with PTSD-o, mTBI-o, or combat exposure-only. ⋯ Effect sizes tended to be large in both groups with PTSD. Thus, PTSD seems to be an important variable affecting neuropsychological profiles in the post-deployment time period. Consistent with literature on civilian mTBI, the current study did not find evidence that combat-related mTBI in and of itself contributes to objective cognitive impairment in the late stage of injury.