Marc P DiFazio

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Rotavirus infection is a frequent cause of gastroenteritis in children and accounts for significant morbidity and mortality, especially in the developing world. Less well recognized is the association of rotavirus-induced central nervous system dysfunction, which has been associated with seizure, encephalopathy, and death. Symptoms may vary widely, however,(More)
Gelastic epilepsy, or laughing seizures, is a rare seizure manifestation often associated with hypothalamic hamartoma. This seizure type is well described in older children and adults, but has only rarely been reported in neonates, oftentimes recognized in retrospect when the children are older. We report a child diagnosed at 3 months of age with a large(More)
Cerebellar mutism is an uncommon complication of posterior fossa surgery. Manifestations include disturbances of articulation, prosody, and pitch, and, if severe, complete mutism. Symptoms are independent of recognizable cortical or brainstem injury, and recovery is variable, with permanent deficits frequently observed. Cerebellar dysfunction is commonly(More)
STUDY OBJECTIVE We report the effective use of injected BTX-A to treat refractory restless legs syndrome (RLS). METHODS This is an observational case series of 3 patients meeting the essential diagnostic criteria for RLS whose symptoms were refractory to or who refused oral medication. Areas of maximal discomfort were injected as described below. (More)
Nonconvulsive Status Epilepticus (NCSE) is not uncommon in children, and can be challenging to diagnose and treat. Etiologies vary widely and include infection, trauma and acute withdrawal from medications such as anticonvulsants. We report a child who experienced orofacial dyskinesias concerning for NCSE after withdrawal from high dose benzodiazepines(More)
Paroxysmal tonic upgaze of childhood is an eye movement abnormality characterized by periodic episodes of conjugate upward eye deviation. Although the spectrum of paroxysmal tonic upgaze has broadened considerably, a specific pathophysiology has not been elucidated. We report an infant with paroxysmal tonic upgaze who presented to his pediatrician with(More)
Ectodermal dysplasia is a rare congenital disorder characterized by dry, brittle hair, dental malformations, and skin abnormalities. It is thought to be the result of embryonic ectodermal dysgenesis, affecting tissues and structures that are widely separated but with common developmental origins. Recently, this disorder has been associated with a unique(More)
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