Raymond W. M. Chun

Juvenile huntington’s chorea

The hereditary chorea, as I shall call it, is confined to certain and fortunately a few families, and has been transmitted to them, an heirloom from generations away back in the dim past. It is s oken of b those in whose veins the seeBs of the Asease are known to exist, with a kind of horror, and not at all alluded to accept through dire necessity, when it is mentioned as ‘that disorder.’ It is attended enerally by all the

Benign subdural collections of infancy.

During the past two years we studied six infants with subdural collections of fluid. All patients had macrocrania and excessive transillumination of the head. Rapid head growth was common but five patients were otherwise asymptomatic. Subdural taps performed on five children confirmed the presence of abnormal fluid over the cerebral convexities. Subdural fluid in four patients was compatible with effusion and in another with a hematoma. Computerized tomographic evaluation of all infants showed ventricular enlargement, wide cerebral sulci, decreased density in the anterior temporal regions, large sylvian cisterns, prominent interhemispheric fissures, and decreased density over the cerebral convexities. The CT findings resembled cerebral atrophy but psychomotor development and neurologic examinations have been norma.

Topical Review: La Crosse and Other Forms of California Encephalitis:

The California serogroup viruses are mosquito viruses that cause human infections on five continents. They are maintained and amplified in nature by a wide variety of mosquito vectors and mammalian hosts; they thrive in a remarkably wide variety of microclimates (eg, tropical, coastal temperate marshland, lowland river valleys, alpine valleys and highlands, high boreal deserts, and arctic steppes). In 1993, California serogroup viruses caused 71% of all cases of arboviral illness in the United States, principally La Crosse encephalitis.1 The 30 to 180 annual cases of La Crosse encephalitis represent 8% to 30% of all cases of encephalitis, rendering this illness the most common and important endemic mosquito-borne illness in the USA. Subclinical or mild infections are much more common. Methods and results acquired from intense study of California serogroup viruses have been applied, with benefit, to the study of the ecology and pathogenesis of many more serious human arboviral illnesses. The evolutionary potential of viruses, with particular reference to the development of more virulent strains, has been studied more closely in the California serogroup viruses than in almost any other agent of human disease. (J Child Neurol 1999;14:1-14).

Hypomelanosis of Ito(incontinentia pigmenti achromians)-A clinicopathologic study:macrocephaly and gray matter heterotopias

We studied a boy with macrocephaly, hypotonia, pigmentary retinopathy, unilateral whorled hypopigmented skin lesions, and seizures. Skin biopsy confirmed the clinical diagnosis of hypomelanosis of Ito. Postmortem examination at age 22 months revealed a severe neuronal migrational defect that altered the cerebral cortex architecture of white matter. There were many gray matter heterotopias characterized by altered neurons and giant cells. Electronmicroscopy revealed the astrocytic nature of the giant cells. Embryologic migration of both melanoblasts from neural crest and cortical neurons occurs in the second trimester, suggesting a common mechanism for the developmental pathology of skin and brain.

California arbovirus encephalitis in children.

UNTIL RECENT YEARS three principal arboviruses, Eastern, Western, and St. Louis, have been associated with human encephalitis in the United States. Since 1964, a considerable number of symptomatic cases of encephalitis associated with California encephalitis virus (C.E.V.) infections have been reported from this country, primarily from Wisconsin and other Midwestern states. It has been the most common arthropod-borne viral infection found in Wisconsin residents. This paper reports clinical and follow-up studies of 35 children with central nervous system disease associated with California encephalitis group virus infection.

Osmiophilic deposits in cytosomes in Hallervorden-Spatz syndrome

A young child with Hallervorden-Spatz syndrome is presented. She was well until 8 years of age when she lost interest in activities and her school performance declined. At age 11 years, she began having episodes of blepharospasm, accompanied by bilateral ptosis and occasional episodes of oculogyric crisis. By age 12 years, her motor coordination had declined and she began to exhibit evidence of dementia, dystonia, dysarthria, and tremor. Motor incoordination, dystonia, and tremor progressed until the patient was wheel-chair-bound. Multiple tests were performed, including metabolic studies, magnetic resonance imaging, bone marrow biopsy, and electron microscopy of the buffy coat. Both bone marrow and buffy coat revealed inclusions in the cytosomes which were granular and osmiophilic. To our knowledge, this is the third case report of inclusion bodies found in patients with manifestations of Hallervorden-Spatz syndrome. These findings suggest that obtaining a buffy coat and bone marrow biopsy may aid in the diagnosis of Hallervorden-Spatz syndrome and ultimately provide information regarding etiology.

Clinical and extraneural histologic diagnosis of neuronal ceroid‐lipofuscinosis

Neuronal ceroid-lipofuscinosis is manifested by visual and intellectual deterioration and seizures. Autofluorescent lipopigments are found in neural and many nonneural tissues, with characteristic staining and ultrastructural properties. Presumptive diagnosis can usually be made on the basis of history, physical examination, and electrodiagnostic tests, but in the absence of a specific biochemical defect, histologic confirmation is essential. A 6-year-old boy with the clinical appearance of the juvenile form of the disease had sea-blue histiocytes in the bone marrow. And curvilinear profiles in ultrastructural inclusions in skin biopsy tissue, cultures skin fibroblasts, and bone marrow cells.

Antineuronal antibodies in patients having myasthenia gravis

SUMMARYThe gamma globulin fraction from the sera of normal individuals and from patients with myasthenia gravis, autoimmune thyroiditis, amyotrophic lateral sclerosis, and multiple sclerosis were labeled with fluorescein isothiocyanate. When sections of various organs, including nervous tissue, testis, kidney, liver, spleen, ovary, and muscle, were reacted with the fluorescein-labeled globulin obtained from patients with myasthenia gravis, an intense fluorescence was observed only in the nuclei of neurons and spermatogonia. This reaction was seen when tissue from various species, including man, was used. The labeled globulins obtained from normal individuals or from patients with the other disorders did not react in this manner with nervous tissue or testicular sections. When spinal ganglia from young animals were reacted with the fluorescein-labeled globulins from myasthenic patients, the resultant pattern of fluorescence was markedly different from that seen with tissue from mature animals. Thymectomy of two of the patients resulted in loss of the neuronal and spermatogonial reactivity of the labeled globulins. The relationship of these observations to the etiology of this disease is discussed.

Reenactment of the triggering situation for the diagnosis of epilepsy.

When a fixed set of ambient circumstances is associated with convulsive or nonconvulsive paroxysmal attacks, reenactment of the situation should be considered as a possible shortcut for reaching a diagnosis. Reenactment determined the diagnosis in 30 of 32 patients with paroxysmal disorders. The referral diagnosis was correct in only 13 of the 32 patients. To be appropriately executed, the reenactment should entail polygraphic recording of at least EEG, ECG, and respiration. Vertex electrodes should be included to avoid overlooking of cortical electrodecremental event. If unsuccessful at the first attempt, reenactment should be repeated.

Acquired Paroxysmal Movement Disorders

Acquired paroxysmal movement disorders are reported less frequently than the familial forms of paroxysmal dyskinesias. Three children, with the acquired form of the disorder which followed an early childhood encephalopathic event, are described. Three similarly affected children have been reported previously. Movement disorders developing after perinatal encephalopathy appear to be a distinct entity. Patients with this condition demonstrated clinical improvement following the initiation of antiepileptic medications.