Julie T. Parke

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Smith-Magenis syndrome (SMS) is a multiple congenital anomaly, mental retardation (MCA/MR) syndrome associated with deletion of chromosome 17 band p11.2. As part of a multi-disciplinary clinical, cytogenetic, and molecular approach to SMS, detailed clinical studies including radiographic, neurologic, developmental, ophthalmologic, otolaryngologic, and(More)
BACKGROUND Although many lines of evidence suggest an autoimmune etiology, the pathophysiology of opsoclonus-myoclonus syndrome (OMS) remains poorly understood and no immunologic abnormalities have correlated with neurologic severity. Conventional immunotherapies often do not prevent relapse or permanent sequelae. OBJECTIVE To test the cellular immune(More)
The authors review the cases of 116 infants treated consecutively for birth-related brachial plexus injuries. Twenty-eight infants with upper brachial plexus lesions who showed no neurological improvement by 4 months of age were selected for early surgical reconstruction (at a mean age of 5 months). Neurological improvement of the affected arm was observed(More)
Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common inherited peripheral neuropathy in humans, characterized electrophysiologically by decreased nerve conduction velocities (NCVs). CMT1A is associated with a large submicroscopic DNA duplication in proximal 17p. In this report we demonstrate that a patient with a cytogenetically visible(More)
Miller-Dieker syndrome, which includes lissencephaly and a characteristic phenotypic appearance, has been reported to have an autosomal recessive pattern of inheritance. However, we have found abnormalities of chromosome 17 in two of three unrelated patients with this syndrome, one with a ring chromosome 17 and the other with an unbalanced translocation(More)
We report a case of familial hemiplegic migraine in an 11-year-old girl who presented with coma and left hemiparesis. Magnetic resonance imaging showed reversible vasospasm and evidence of oligemia, bringing new information regarding neurovascular changes in familial hemiplegic migraine.
We present three cases of children with acute neurologic changes while undergoing induction chemotherapy for acute lymphoblastic leukemia (ALL). These cases fall into the spectrum of reversible posterior leukoencephalopathy syndrome (RPLS), including abrupt alterations in mental status, headache, seizures, visual changes, hypertension, and characteristic(More)
The association between Beckwith-Wiedemann syndrome and hepatoblastoma is well established and relatively commonplace. The occurrence of opsoclonus-myoclonus syndrome in individuals with occult neoplasia is also well documented. However, the development of opsoclonus-myoclonus syndrome in an infant with Beckwith-Wiedemann syndrome and hepatoblastoma has not(More)
We describe two brothers with severe microcephaly, unusual retinal pigmentary anomalies, intellectual function in the average or low average range, and a strong family history of hyperreflexia. The brothers have a previously undescribed syndrome, while the hyperreflexia appears to represent a coincidental autosomal dominant Mendelian trait, perhaps linked(More)