Biomedical subjects
Publications and source records attributed to L G Tomasi.
This is the third reported case of a neonate with ophthalmoplegia in whom the diagnosis of maple syrup urine disease (MSUD) was delayed into infancy. In this case, the demonstration of significant residual branched-chain ketoacid decarboxylase activities suggests that this atypical presentation may be characteristic of the MSUD variant form.
Although a neuromuscular syndrome has been induced experimentally by vitamin E deficiency, a human syndrome has not yet been documented. This report describes a 7-year-old boy with severe malabsorption since birth who presented with progressive external ophthalmoplegia, proximal muscle weakness, peripheral neuropathy, hyporeflexia, and bilateral Babinski signs. Abnormalities on neurologic examination included elevated creatine phosphokinase and aldolase, slowed distal sensory latencies, type II muscle fiber atrophy, and a plasma vitamin E level of 8 microgram per deciliter (normal, 550-1500 microgram per deciliter). Treatment with oral water-solubilized vitamin E (400 IU daily; greater than 50 times the normal daily intake) was begun, with repeat laboratory studies at 3-month intervals. Over a 16-month period, plasma vitamin E content gradually increased to 350 microgram per deciliter, associated with declining sarcoplasmic enzyme activities and clinical improvement.
Explore the source record for details and available documents.
Purtscher retinopathy is a hemorrhagic angiopathy that occurs after sudden compression of the thorax. Virtually all reported cases have been in adults who have decreased visual acuity, retinal hemorrhages and exudates, and no other neurological signs. By contrast, in infants, hemorrhagic retinopathy is rarely benign, and generally is considered to indicate intracranial hemorrhage, usually an acute subdural hematoma. Two battered infants had seizures and associated chest injury. There were retinal hemorrhages and exudates, unaccompanied by clinically important intracranial hemorrhage. At follow-up, the hemorrhagic retinopathy had resolved without sequelae; development was normal, and seizures had not recurred. Purtscher retinopathy thus should be added both to the differential diagnosis of hemorrhagic retinopathy in infancy and to the list of physical signs suggesting child abuse.