Progressive Disordered Movements in an Infant Leads to Rare Diagnosis.

Desmoplastic infantile ganglioglioma (DIG) is a supratentorial superficially-located cystic neuroepithelial tumor. It is an exceedingly rare tumor with an incidence of <0.1% of central nervous tumors; approximately 60 cases have been reported in the literature. We present a case of a three-month-old infant with progressive disordered movements described as intermittent upper body stiffening with associated eye blinking, drooling, and change in level of alertness. A seizure was witnessed in the emergency department, after which the child was sent for imaging studies. Magnetic resonance imaging (MRI) revealed a large solid and cystic mass in the temporal region measuring 8.6cm × 7.9cm × 5.1cm. The infant underwent complete surgical resection, and post-surgical pathology revealed a diagnosis of DIG. The patient had an excellent post-operative course in the months following discharge. At his last well-child visit, no neurological deficits were appreciated and the infant was meeting expected milestones for his age.

Attention deficit disorder and epilepsy.

Countless studies have demonstrated that patients with epilepsy have a significant increase in behavioral disturbances of all kinds, including hyperactivity and inattention. This finding has been demonstrated in studies utilizing observer questionnaires and behavior rating scales, neuropsychological test batteries, and standardized tests of attention such as continuous performance tests. Multiple factors must be considered in the evaluation of a child with epilepsy and hyperactivity or inattention. For instance, inattention could be due to subclinical seizures, undiagnosed learning disabilities, disturbed sleep as a result of a side effect of antiepileptic medication, or due to an attention deficit disorder. Electroencephalographic monitoring is helpful to distinguish between behavioral inattention and partial complex or absence seizures. Electroencephalographic monitoring can also assess subclinical spike frequency, which may affect attention and other aspects of cognitive functioning in various ways, even in the absence of clinical seizures. Most antiepileptic drugs do not adversely affect attention and behavior in therapeutic doses, with the exception of phenobarbital, gabapentin, and topiramate. Some antiepileptic drugs, such as lamotrigine and carbamazepine, may even have beneficial effects. The preponderance of evidence suggests that stimulants other than bupropion are safe and effective in the treatment of attention deficit disorder in children with epilepsy, although controlled studies of dextroamphetamine in this population are lacking. So far, atomoxetine has not been demonstrated to have any adverse effect in children with epilepsy.

Gelastic seizure with tectal tumor, lobar holoprosencephaly, and subependymal nodules: clinical report.

Gelastic seizures are characterized by inappropriate, stereotyped laughter and are often first recognized when other epileptic manifestations occur. They are frequently associated with hypothalamic hamartomas. Central nervous system developmental abnormalities are rarely reported with gelastic seizures. There is only one case report of gelastic seizure caused by holoprosencephaly. We report a 2-year-old girl with multiple brain structural abnormalities including tectal tumor (possibly hamartoma), multiple subependymal nodules, and holoprosencephaly. She developed seizures during the newborn period and presented with gelastic seizure and simple partial seizure at 3 months of age.

Mitochondrial DNA deletion in a child with megaloblastic anemia and recurrent encephalopathy.

A 3 1/2-year-old boy presented with megaloblastic anemia and recurrent episodes of severe lactic acidosis and coma. At age 4 years, he developed sepsis and died; postmortem examination failed to show any gross abnormality in any tissue. Biochemical analysis of muscle showed decreased activities for all respiratory chain enzymes except complex II. Muscle histochemistry revealed diffuse cytochrome c oxidase deficiency. Southern blot analysis of mitochondrial DNA from muscle, liver, and blood showed a heteroplasmic single mitochindrial DNA deletion of 2.4 kb, which removed the genes for cytochrome c oxidase I and II and the transfer ribonucleic acid genes for serine and aspartic acid. Single large-scale deletions in mitochondrial DNA have been associated with Pearson's syndrome, Kearns-Sayre syndrome, and progressive external ophthalmoplegia. This patient's presentation is unusual and suggests an overlap between Pearson's syndrome and Kearns-Sayre syndrome.

Dementia in adults with mental retardation: assessment at a single point in time.

Dementia status of 273 adults with mental retardation was rated based upon two extensive evaluations conducted 18 months apart. Overall, 184 individuals did not have dementia, 33 had possible or definite dementia, and 66 had findings suggesting uncertain or questionable status. These ratings were compared to binary classifications (dementia vs. no dementia) generated from the Dementia Questionnaire for Persons With Mental Retardation (Evenhuis, 1995) and the IBR Mental Status Examination (Wisniewski & Hill, 1985). When performance was referenced to IQs (established earlier in adulthood), quantitative criteria effectively distinguished between individuals with and without dementia based upon assessment at a single point in time. Findings suggest that procedures of this type could soon contribute to more accurate and rapid diagnoses of dementia.

Incidence and prevalence of dementia in elderly adults with mental retardation without down syndrome.

Rates of dementia in adults with mental retardation without Down syndrome were equivalent to or lower than would be expected compared to general population rates, whereas prevalence rates of other chronic health concerns varied as a function of condition. Given that individual differences in vulnerability to Alzheimer's disease have been hypothesized to be due to variation in cognitive reserve, adults with mental retardation, who have long-standing intellectual and cognitive impairments, should be at increased risk. This suggests that factors determining intelligence may have little or no direct relationship to risk for dementia and that dementia risk for individuals with mental retardation will be comparable to that of adults without mental retardation unless predisposing risk factors for dementia are also present.

Chorea and developmental regression associated with human herpes virus-6 encephalitis.

We report a 14-month old child with multiple episodes of febrile status epilepticus, followed by chorea and developmental regression, caused by human herpes virus-6 encephalitis. Chorea has been described as a complication of relapsing herpes simplex virus I infection, but not as a manifestation of human herpes virus-6 infection. It is uncertain whether the chorea was an autoimmune phenomenon or a direct effect of the virus. The child was treated with levetiracetam, intravenous immunoglobulin, and foscarnet. The seizures and chorea resolved with treatment, but developmental regression, with loss of language skills, persisted 6 months after the illness. This child illustrates a new clinical presentation of human herpes virus-6 encephalitis, adds to the spectrum of disorders caused by this virus, and strengthens the case for routine identification of specific viral agents in all cases of childhood viral infections with central nervous system symptoms to determine optimal treatment and prognosis.

A new syndrome of myopathy with muscle spindle excess.

Arthrogryposis may result from various neuromuscular or connective tissue disorders leading to in utero hypokinesia or akinesia and the prenatal development of joint contractures. We report the case of a preterm neonate born with arthrogryposis and flaccid quadriplegia that led to the diagnosis of myopathy with muscle spindle excess. The rare and unusual histopathologic abnormality associated with the myopathy illustrated in this case has been described in only three other cases in the medical literature. The concurrence of hypertrophic cardiomyopathy, arthrogryposis, and myopathy with muscle spindle excess suggests the presence of a newly described syndrome. This case clearly demonstrates that specific prenatal ultrasonographic findings combined with the presenting clinical manifestations should promptly raise the suspicion of a neuromuscular disorder.

Onset of dementia is associated with age at menopause in women with Down's syndrome.

Women with Down's syndrome experience early onset of both menopause and Alzheimer's disease. This timing provides an opportunity to examine the influence of endogenous estrogen deficiency, indicated by age at menopause, on risk of Alzheimer's disease. A community-based sample of 163 postmenopausal women with Down's syndrome, 40 to 60 years of age, was ascertained through the New York State Developmental Disability service system. Information from cognitive assessments, medical record review, neurological evaluation, and caregiver interviews was used to establish ages for onset of menopause and dementia. We used survival and multivariate regression analyses to determine the relation of age at menopause to age at onset of Alzheimer's disease, adjusting for age, level of mental retardation, body mass index, and history of hypothyroidism or depression. Women with early onset of menopause (46 years or younger) had earlier onset and increased risk of Alzheimer's disease (AD) compared with women with onset of menopause after 46 years (rate ratio, 2.7; 95% confidence interval [CI], 1.2-5.9). Demented women had higher mean serum sex hormone binding globulin levels than nondemented women (86.4 vs 56.6 nmol/L, p = 0.02), but similar levels of total estradiol, suggesting that bioavailable estradiol, rather than total estradiol, is associated with dementia. Our findings support the hypothesis that reductions in estrogens after menopause contribute to the cascade of pathological processes leading to AD.