Biomedical subjects

M Kornfeld

Publications and source records attributed to M Kornfeld.

At least 73 records · Page 4Linked to original sources

PubMed1979

Adrenoleukodystrophy and adrenomyeloneuropathy associated with partial adrenal insufficiency in three generations of a kindred.

Four cases of adrenoleukodystrophy (ALD) and one case of adrenomyeloneuropathy (AMN) have developed in a kindred over three generations demonstrating that AMN is a clinical variant of ALD. Pituitary-adrenal function studies were performed in 10 family members, including two affected males and four females identified as carriers of ALD/AMN. No pituitary-adrenal abnormality was found in the carriers. However, basal morning plasma adrenocorticotropic hormone (ACTH) levels were markedly elevated in the two males with ALD and AMN, despite the fact that they had no clinical signs of adrenal insufficiency and that morning plasma cortisol levels and their response to maximal exogenous ACTH stimulation appeared to be normal. In addition, the integrated 24-hour response to the administration were also subnormal in these two cases. Thus, people with ALD and AMN may have subclinical partial adrenocrotical insufficiency. No other endocrinologic dysfunction was identified.

Adolescent↗

PubMed1979

Subcortical arteriosclerotic encephalopathy (Binswanger): computerized tomography.

The subcortical arteriosclerotic encephalopathy of Binswanger is characterized clinically by hypertension, dementia, spasticity, syncope, and seizures. It is usually diagnosed pathologically by the finding in white matter of diffuse demyelination or foci of necrosis plus arteriosclerotic and hypertensive vasculopathy. We present a case in which the diagnosis was made on the basis of the clinical course and a computerized tomogram which demonstrated extensive white matter degeneration. Postmortem examination confirmed both the diagnosis and the extent of the degeneration as shown by CT scan.

Brain Diseases↗

PubMed1978

Familial cavernous angiomas.

Cavernous angiomas are rare, surgically remediable vascular malformations of the CNS that may be characterized by hemorrhage, seizures, or focal neurologic deficits. Three families with cavernous angiomas have been described, and we report two more. In the first, the mother died suddenly with headache. A pontine cavernous angioma was found at autopsy in one son. His brother has similar pontine signs and a radiographically proved pontine mass. The brother's son has seizures and a calcified cerebral lesion. In the second family, the father had a cavernous angioma excised from the caudale. One of the daughters had a hemorrhagic mass removed from the spinal cord. Another daughter has seizures and a temporal lobe vascular lesion proved angiographically. Awareness of the possibility of familial involvement may aid in diagnosis of cavernous angioma.

Adult↗

PubMed1977

Fucosidosis with angiokeratoma. Electron microscopic changes in the skin.

An electron microscopic investigation was performed on the skin from three patients suffering from fucosidosis accompanied by diffuse angiokeratoma. Storage of fucose containing substances was represented by the following two kinds of cytosomes: lamellated bodies, found in Schwann cells and myoepithelial cells of sweat glands and membrane-bound vacuoles, located in various other cellular elements of the skin. Storage in endothelial cells caused narrowing or occlusion of some dermal blood vessels; in the papillary plexus, angiectasis was the result. Extensive vacuolation of the secretory cells of sweat glands could account for hypohydrosis. The characteristic distribution of cytosomes in various kinds of cells is helpful in differentiating fucosidosis from some other storage diseases on the basis of skin biopsy.

Adolescent↗

PubMed1976

Acromutilating, paralyzing neuropathy with corneal ulceration in Navajo children.

Four Navajo children had a mutilating neuropathy with severe motor involvement. The disorder appears to be recessively inherited and is present from the earliest observable age. Manifestations include severe anesthesia, corneal ulceration, painless fractures, acral mutilation, and weakness. Mental function is normal. Sural nerves are practically devoid of myelinated fibers that show no evidence of regeneration. Unmyelinated axons show degenerative and regenerative morphologic and histometric features. Onion bulb formation is absent. We believe this neuropathy is a distinct clinical entity.

Axons↗

PubMed1975

The oculo-cerebral-renal syndrome of Lowe.

Clinical, light microscopical, ultrastructural, and biochemical studies were done on nerve and muscle biopsy specimens from five patients with the oculo-cerebral-renal syndrome of Lowe. Four patients were American Indians, a racial group in whom this disease has not previously been recognized. The hypotonia, areflexia, and diffuse atrophy of muscles are associated with slowed motor nerve conduction velocities, and the morphologic changes in sensory nerves are attributed to a "dying-back" phenomenon probably resulting from an unknown metabolic derangement.

Abnormalities, Multiple↗

PubMed1975

Sea-blue histiocytes and sural nerve in neurovisceral storage disorder with vertical ophthalmoplegia.

Ultrastructural investigation of bone marrow histiocytes in neurovisceral storage disorder associated with vertical ophthalmoplegia revealed 3 types of cytosomes: (1) lamellar cytosomes; (2) larger cytosomes composed of lamellar fragments and a granular component; and (3) large irregular cytosomes with amorphous and granular portions, often including fingerprint profiles--in some of these, lysosome-like bodies were numerous. The lamellar cytosomes corresponded to vacuoles seen by light microscopy. The Type 2 and 3 cytosomes were the ultrastructural substract of Wright-Giemsa stained blue granules. Histiocytes having a predominance of Type 2 cytosomes in a cytoplasm rich in free ribosomes had the appearance of sea-blue histiocytes at the light-microscopic level. Transformed Type 1 cytostomes served as building blocks for Type 2 and 3 cytosomes. In the sural nerve, Schwann cells and endoneurial fibroblasts accumulated autofluorescent lipopigment but no lamellar cytosomes or their fragments were found on electron-microscopic examination. Ultrastructure of sea-blue histiocytes in this disease differed from that observed in some other diseases.

Adult↗

PubMed1974