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Biomedical subjects

E C Dooling

Publications and source records attributed to E C Dooling.

12 recordsLinked to original sources
PubMed1992

Desmoplastic cerebral astrocytomas of infancy: a histopathologic, immunohistochemical, ultrastructural, and molecular genetic study.

The desmoplastic cerebral astrocytoma of infancy (DCAI) is a rare tumor that presents as a large hemispheric mass in infants. Despite an ominous histologic picture that may resemble a sarcoma, the tumor is astrocytic and has a good prognosis. We present two cases of DCAI, with histopathologic, immunohistochemical, ultrastructural, and molecular genetic data, and draw the following conclusions: (1) the diagnosis of DCAI requires a high index of suspicion and immunohistochemical or ultrastructural proof of astrocytic differentiation; (2) the data argue against nosologically equating these tumors with the desmoplastic infantile ganglioglioma, pleomorphic xanthoastrocytoma, or gliofibroma; (3) the components of the extensive tumor basal lamina may be elaborated by the tumor cells themselves and may contribute in an autocrine fashion to the slow growth of these lesions; and (4) if the lack of allelic loss on chromosomes 17p (including the p53 tumor suppressor gene locus) and 10 seen in our cases is found in other cases of DCAI, this may further distinguish the DCAI from other astrocytomas.

Alleles↗
PubMed1985

The late appearance of hypopigmented maculae in tuberous sclerosis.

Tuberous sclerosis (TS) is a dominantly inherited disorder characterized by seizures, developmental delay, and specific skin lesions. Hypopigmented maculae that occur in 80% of patients with TS have become important for the clinical diagnosis of TS in young children. These lesions are claimed to be present from birth, in contrast with other dermatologic manifestations of TS that usually appear much later. We studied seven children in whom hypopigmented maculae appeared months to years after repeated negative skin examinations. Our findings emphasized that the absence of hypopigmented maculae in young children does not preclude their later appearance nor rule out the diagnosis of TS. The need for repeated skin examinations in infants and children with suspected TS or with seizures and/or mental retardation of unknown cause is apparent.

Child↗
PubMed1977

Left-right asymmetries of the temporal speech areas of the human fetus.

Left-right asymmetries of the transverse temporal (Heschl) gyri and the temporal plane become recognizable by 31 weeks' gestation. The transverse temporal gyri are larger in number and extent on the right side in 54% of 207 serially sectioned fetal brains ranging in gestational age from 10 to 44 weeks, and the temporal plane is larger on the left side in those brains. There are two transverse temporal gyri on the left and a single right transverse temporal gyrus on the right in 18% of the brains. No asymmetry of number of transverse temporal gyri or extent of the temporal plane is apparent in 28%. These findings, which confirm those in adult brains, suggest that anatomical asymmetries for left hemispheral speech and language dominance may be established during the last trimester of fetal life.

Female↗
PubMed1977

Ophthalmoplegia and Ondine's curse.

Ocular abnormalities and psychomotor difficulties were prominent in two unrelated children; in addition, the older child had respiratory irregularity during sleep. The pathologic findings included lesions of the optic nerve in the case with available material and established the diagnosis of Leigh's subacute necrotizing encephalopathy. This disorder is thought to result from inhibition of a thiamine-dependent enzymatic process and may be modified by greatly increased thiamine intake. Suspicion of the diagnosis in a child with ophthalmoplegia or other ocular abnormalities may lead to earlier recognition and more successful treatment of the disease.

Ataxia↗
PubMed1977

Melanotic neuroectodermal tumor of infancy: its histological similarities to fetal pineal gland.

Striking similarities between the pineals of 107 fetuses and infants and a pigmented neuroectodermal tumor occurring in the right orbital and right frontal regions in a 6-month-old Puerto Rican boy were found. Both the human fetal pineal and melanotic neuroectodermal tumors of infancy are characterized by pigmented (melanin) epithelial cells, small undifferentiated cells, and a fibrovascular stroma. Our findings suggest the fetal pineal may be a normally occurring precursor of the melanotic neuroectodermal tumor of infancy, or that melanin production may be a normal capability of differentiating neuroepithelial cells.

Child, Preschool↗
PubMed1976

Delayed encephalopathy after strangling.

An 11-year-old boy who had been the victim of a strangling attempt was asymptomatic for one week whereupon involuntary movements involving the trunk and limbs developed, along with repetitive episodes of opisthotonos and autonomic dysfunction. Meanwhile, he remained alert and appeared to be mentally intact. An electroencephalogram was normal. He died 13 weeks after the onset of the neurological disorder. The neuropathological examination showed cavitating lesions in the caudate nucleus, putamen, and globus pallidus bilaterally, with sparing of the white matter. The delayed onset of a progressively evolving neurological disorder has been noted in various forms of hypoxicischemic insult, including previously reported cases of strangling, but its occurrence cannot be predicted from the preceding clinical state or course. In the cases in which abnormal movements have been predominant, the pathological findings have been similar despite diversity in the preceding circumstances. We suggest the underlying metabolic disorder common to these cases may be lactic acidosis, and that they should be studied for evidence of a biochemical defect.

Brain Diseases↗
PubMed1975

The pathological anatomy of posthemiplegic athetosis.

Disorders of movement after hemiplegia have been described for more than a century, but their pathological anatomy and physiology have remained poorly understood because of ambiguous terminology and incomplete studies. We examined the brains of 5 patients which had been serially sectioned where there had been well documented pure motor hemiplegia acquired in childhood. In 4 patients handicapped by hemiathetosis the main lesion was partial destruction of the caudate nucleus and putamen. In the fifth case, where non-disabling involuntary movements only appeared in later life, there was gliosis of the caudate nucleus and thalamus. Striatal lesions produce involuntary movement disorders if the corticospinal and other major motor tracts are partly intact. We propose that degeneration of the thalamic nuclei receiving striatal efferents (ventralis anterior, ventralis lateralis and centrum medianum), wheter primary or secondary, appears to remove an essential modulating influence on the corticospinal system which can only become manifest if this system is relatively preserved.

Adult↗