I put together these medical challenges. The cases are hypothetical and do not necessarily represent actual or typical presentations of medical diseases. Disclaimer is at the bottom of this page.
Monday, April 16, 2012
Luckily with screening, this autosomal recessive disease is caught early. Initially, neonates are asymptomatic, but as they start taking in breast milk or standard infant formula, they begin to have developmental delay. Ultimately, they can have moderate-severe mental retardation. Brain imaging shows white matter lesions. A quarter of patients may have epilepsy. Other findings include abnormalities of gait, sitting posture, and stance as well as hyperactivity. Skin findings include light pigmentation and eczema. The body and urine can sometimes have a "mousy" odor.
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