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Francis J DiMario

Publications and source records attributed to Francis J DiMario.

14 recordsLinked to original sources
PubMed2006

Paroxysmal nonepileptic events of childhood.

The paroxysmal nonepileptic events of childhood are a group of disorders, syndromes, and phenomena that mimic true epileptic seizures. Clinical experience and a clear description of the event in question will usually lead to a correct categorization. They span in age from neonate to young adult and are apt to be the most common diagnostic challenges clinicians face regularly. The key to diagnosis is a detailed history and careful observation. Despite the large number of discrete entities enumerated herein, common principles in clinical approach are successful and described. Each entity can pose a significant clinical challenge in identification, etiologic pathophysiology, genetics, and management. A simple division is offered here separating those episodes that are associated with an altered mental status or occurring during sleep and those without an altered mental status or occurring while awake.

Consciousness↗
PubMed2006

MR imaging and prognosis of hypoxic-ischemic leukoencephalopathy.

OBJECTIVE: To correlate prognosis of hypoxic-ischemic white-matter injury with magnetic resonance imaging (MRI). METHODS: In a retrospective review at an urban medical center, three adult and three pediatric patients with predominant white-matter involvement caused by hypoxic- ischemic injury were evaluated over a 15-month period. RESULTS: Five patients with MRI-defined hypoxic-ischemic leukoencephalopathy had a favorable outcome, and one with associated diffusion-weighted abnormality of deep gray structures died. CONCLUSION: The prognosis of hypoxic-ischemic leukoencephalopathy is more favorable than previously reported, and diffusion-weighted imaging abnormality of deep gray structures was associated with a poor outcome.

Adolescent↗
PubMed2005

Postinfectious myasthenia gravis: report of two children.

We report two children with transient myasthenia gravis preceded by viral illnesses. The first is a 5-year-old boy who developed oculobulbar weakness 2 weeks following a varicella-zoster infection. The second is a 4-year-old boy who developed facial diplegia and dysarthria several weeks following a viral pharyngitis. Myasthenia gravis was diagnosed based on the substantial decremental changes on 3 Hz repetitive motor nerve stimulation studies for the first child and on the positive edrophonium test and complete improvement in symptoms during pyridostigmine therapy for both children. In both cases, the symptoms gradually resolved and have not recurred following discontinuation of pyridostigmine. Molecular mimicry between the acetylcholine receptor and viral proteins might provide the nidus for the immune response in this variant of myasthenia gravis.

Chickenpox↗
PubMed2004

Hemorrhagic infarction in white matter following acute carbon monoxide poisoning.

Hemorrhage complicating acute carbon monoxide poisoning is usually confined to the basal ganglia. The authors report three people with acute carbon monoxide poisoning manifesting selective or prominent white matter involvement complicated by hemorrhagic infarction on CT and MRI in one and by subcortical T2*-weighted MRI abnormality in all three.

Acute Disease↗
PubMed2004

Brain abnormalities in tuberous sclerosis complex.

Tuberous sclerosis complex is an autosomal dominant multisystem disorder. Spontaneous mutations occur in up to 60% of patients with gene loci located on chromosomes 9q34 (TSC1) and 16p13 (TSC2). Diagnosis is established with the identification of various neurocutaneous markers and multiple organ system hamartomas. The variable expression of severity, the potential for cognitive dysfunction, and epilepsy compound the clinical picture. The intracranial abnormalities include the identification of migration and hamartomatous brain lesions, such as tubers, subependymal nodules, and subependymal giant cell astrocytomas. A number of other neuroimaging and morphometric abnormalities coexist, which can be identified with current neuroimaging techniques. This review examines the spectrum of brain abnormalities encountered in tuberous sclerosis complex and presents them as not merely a collection of lesions but more cohesively in the context of a global neuronal migration disorder.

Brain↗
PubMed2003

Diagnostic approach in patients with symmetric imaging lesions of the deep gray nuclei.

BACKGROUND: Selective insult to brain deep gray matter nuclei is uncommon, may be congenital or acquired, acute or chronic, and varied in etiology. Determining the etiology relies on history, clinical presentation, laboratory investigations, and lesion pattern on Neuroimaging. REVIEW SUMMARY: We review the differential diagnosis and clinical, laboratory and neuroimaging pattern of conditions that manifest with lesions of deep gray matter nuclei in the context of representative case studies. CONCLUSION: While presentations may vary in individual patients, the essentials of history, clinical examination, laboratory evaluation,and neuroimaging lesion pattern can be efficiently directed to differentiate the various etiologies of deep gray matter nuclei lesions. In this review we focus on the etiologic classification and diagnostic approach to acute and chronic conditions that manifest on neuroimaging with bilateral symmetric lesions of deep gray matter nuclei.

Adolescent↗
PubMed2003

Dissociation of motor maturation.

We prospectively acquired clinical data regarding the presentation, evaluation, and developmental progress of all patients identified with dissociated motor maturation to define their clinical outcomes. Children (N = 8) referred for evaluation of suspected cerebral palsy because of delayed sitting or walking and identified to have dissociated motor maturation were followed with serial clinical examination. All displayed the characteristic "sitting on air" posture while held in vertical suspension and had otherwise normal developmental assessments. This posture is composed of the hips held in flexion and abduction with the knees extended and feet plantar or dorsiflexed. Three children were initially evaluated at 10 months of age owing to absence of sitting and five other children were evaluated at a mean of 14 months (range 12-19 months) owing to inability to stand. Follow-up evaluations were conducted over a mean of 10.5 months (range 5-34 months). Five children were born prematurely at 34 to 36 weeks gestation. Denver Developmental Screening Test and general and neurologic examinations were normal except to note hypotonia in six children and the "sitting on air" posture in all of the children. Four children have older siblings or parents who "walked late" (after 15 months). On average, the children attained sitting by 8 months (range 7-10 months). One child did not crawl prior to independent walking, two children scooted rather than crawled, and five children crawled at an average of 13.5 months (range 10-16 months). All children cruised by a mean of 18 months (range 16-21.5 months) and attained independent walking by 20.1 months (range 18-25 months). Neuroimaging and serum creatine kinase enzyme testing were normal in two children who were tested. These eight children conform to the syndrome of dissociated motor maturation. The "sitting on air" posture serves as a diagnostic sign and anticipated excellent prognosis, but follow-up is required to ensure a normal outcome.

Age Factors↗
PubMed2002

Cutaneous blood flow and thermoregulation in Prader-Willi syndrome patients.

We examined adrenergic controlled cutaneous blood flow and temperature regulation in Prader-Willi syndrome. A body mass index was calculated for each participant. Thermal and laser Doppler finger probes were applied for continuous simultaneous surface temperature and capillary blood flow recording. Analysis with respect to group, age, body mass index, and genetic cause were performed. There were 32 patients (mean = 17.5 years of age) and five control subjects (mean = 15.6 years of age). There were no significant differences in mean ages or sex between groups. There was no significant difference in averaged blood flow measures with respect to group (P = 0.81), age (P = 0.16), body mass index (P = 0.54), or genetic identification (P = 0.81). There was no significant difference in average temperature measures as a function of group (P = 0.95), body mass index (P = 0.82), or genetic identification (P = 0.95). There was a significant difference in average temperature (P = 0.008) and trend in temperature change over time (P = 0.07) with respect to age for both patients and control subjects. Younger participants had higher average temperatures (30.6 degrees C vs 28.4 degrees C) in both study groups. We conclude that the central regulation and adrenergic control of cutaneous temperature and blood flow regulation in Prader-Willi syndrome at rest is not different from control subjects. These observations strengthen prior observations that a primary disturbance in parasympathetic autonomic regulation exists in Prader-Willi syndrome.

Adolescent↗
PubMed2002

The ketogenic diet: a review of the experience at Connecticut Children's Medical Center.

We undertook a retrospective analysis of epilepsy patients referred and treated for more than 6 months with the ketogenic diet during 1994-1999 at Connecticut Children's Medical Center. Outcome measures included antiepileptic drug number, seizure frequency, electroencephalogram background/paroxysmal activity, and adverse effects at 6 months and 1 year on the ketogenic diet. The final cohort included 24 of 48 referred patients (mean age, 6.5 years; range = 1-15 years of age). The etiology of epilepsy was equally divided between idiopathic and cryptogenic epilepsy and symptomatic epilepsy. Intention to treat analysis revealed that 35% (17 of 48) achieved more than 50% reduction in seizure frequency, and 8.5% (four of 48) were seizure-free by 6 months. A sustained 50% or greater reduction at 1 year was observed in 23% (11 of 48), and the same 8.5% (four of 48) remained seizure-free. None of these improvements were statistically related to age (P = 0.97), sex (P = 0.78), or epilepsy etiology (P = 0.80). The number of antiepileptic drugs used per patient decreased. Electroencephalogram at 1 year demonstrated an improvement in background in 31% (five of 16 patients) and a reduction in paroxysmal features in 37.5% (6 of 16 patients). Most adverse effects were mild, self-limited, and occurred early. Hyperuricemia (more than 6 mg/dL) was more persistent in three patients.

Academic Medical Centers↗
PubMed2002

Prediction of outcome based on clinical seizure type in newborn infants.

OBJECTIVE: To determine whether the clinical features of neonatal seizures are of value in predicting outcome. STUDY DESIGN: Demographic features, clinical seizure types, etiologic factors, and laboratory findings of all 77 patients with seizures admitted to our neonatal intensive care unit over a consecutive 7-year period were extracted from the medical records. RESULTS: Twenty-three (30%) died; 59% of the survivors had abnormal neurologic examinations, 40% were mentally retarded, 43% had cerebral palsy, and 21% were epileptic at mean follow-up of 3.5 years. Compared with patients with other seizure types, those with subtle and generalized tonic seizures had a significantly higher prevalence of epilepsy (P =.04 and P =.01 respectively); mental retardation (P =.02; P =.007), and cerebral palsy (P =.03; P =.002). Subtle seizures were, in addition, more likely to be associated with abnormalities on the neurologic examination at follow-up (P =.03). Similar outcome comparisons for those with focal and multifocal clonic, focal tonic, and multifocal myoclonic seizures revealed no significant differences. However, patients with >or=2 seizure types were significantly more likely to have epilepsy (P =.02), mental retardation (P =.001), cerebral palsy (P =.001), and abnormal examinations (P =.05). CONCLUSIONS: Clinical semiology is predictive of outcome in neonates with seizures and suggests the presence of unique pathophysiologic processes for different seizure types.

Cerebral Palsy↗