0000000000586007

AUTHOR

Harold Klein

showing 3 related works from this author

Ultrastructural Pathology of Eccrine Sweat Gland Epithelial Cells in Globoid Cell Leukodystrophy

1993

Three of four children were recognized by deficient β-galactocerebrosidase activities as having globoid cell leukodystrophy inclusions in sweat gland epithelial cells, similar in ultrastructure to those seen in Schwann cells. This observation in globoid cell leukodystrophy emphasizes the need to include sweat gland epithelial cells in examinations of skin in globoid cell leukodystrophy, as well as in any neurometabolic disorder. ( J Child Neurol 1993;8:171-174).

MalePathologymedicine.medical_specialtyBiopsyCellEccrine GlandsBiologyEpitheliumInclusion bodiesUltrastructural Pathology03 medical and health sciences0302 clinical medicine030225 pediatricsSweat glandmedicineHumansEccrine sweat glandChildSkinInclusion Bodiesintegumentary systemLeukodystrophyInfantLipid Metabolismmedicine.diseaseEpitheliumLeukodystrophy Globoid CellMicroscopy Electronmedicine.anatomical_structureChild PreschoolVacuolesPediatrics Perinatology and Child HealthUltrastructureFemaleNeurology (clinical)030217 neurology & neurosurgeryJournal of Child Neurology
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Ultrastructural studies of the retina in infantile neuronal ceroid-lipofuscinosis.

1988

A 9-year-old boy who had died of infantile neuronal ceroid-lipofuscinosis had experienced retina-derived visual failure. Ophthalmologically and morphologically, his retina was severely atrophic and scarred by a dense fibrillary gliosis while photoreceptor cells had completely disappeared, cells of the bipolar layer had decreased in number and had become atrophic beyond cytologic recognition. Retinal pigment epithelial cells had undergone either atrophy or proliferation. Disease-specific granular lipopigments had accumulated in perikarya and processes of remaining cells and were infrequently associated with melanin within huge melanolipofuscin bodies and RPE cells of sessile and migrating na…

MalePathologymedicine.medical_specialtygenetic structuresInfantile neuronal ceroid lipofuscinosisCytoplasmic GranulesRetinaLipofuscinMelaninchemistry.chemical_compoundAtrophyNeuronal Ceroid-LipofuscinosesCytologymedicineHumansChildMelaninsRetinaMembranesbusiness.industryRetinalGeneral MedicinePigments Biologicalmedicine.diseaseLipidseye diseasesOphthalmologymedicine.anatomical_structurechemistryUltrastructuresense organsbusinessRetinopathyRetina (Philadelphia, Pa.)
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Late-Onset Globoid Cell Leukodystrophy: Unusual Ultrastructural Pathology and Subtotal β-Galactocerebrosidase Deficiency

1990

An 11-year-old girl was found to have severely reduced β-galactocerebrosidase activity as evidence of late-onset globoid cell leukodystrophy, while her mother had almost normal enzyme activity in circulating white blood cells. Clinically, the patient showed a remitting course marked by seizures, ataxia, white-matter disease on computed tomographic scan, and reduced conduction velocities of peripheral nerves. Symptoms improved somewhat around the age of 10 years. Two sural nerve biopsies, performed 6 years apart, disclosed a demyelinating neuropathy. By electron microscopy, membrane-bound vacuolar lysosomes in Schwann cells of myelinated axons, unlike the typical needlelike inclusions seen …

Pathologymedicine.medical_specialtyAtaxiaAdolescentBiopsyCellSural nerveBiologyUltrastructural Pathology03 medical and health sciences0302 clinical medicineSural Nerve030225 pediatricsBiopsymedicineHumansChildMyelin SheathInclusion Bodiesmedicine.diagnostic_testLeukodystrophymedicine.diseaseAxonsLeukodystrophy Globoid CellMicroscopy Electronmedicine.anatomical_structureLate-Onset Globoid Cell LeukodystrophyChild PreschoolPediatrics Perinatology and Child HealthFemaleSchwann CellsNeurology (clinical)medicine.symptom030217 neurology & neurosurgeryβ galactocerebrosidaseFollow-Up StudiesGalactosylceramidaseJournal of Child Neurology
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