Mary Jane Aguilar

Kinky hair disease. I. Clinical and pathological features.

A family of 9 siblings included 6 boys, by 2 different fathers, all of whom demonstrated early in life profound and progressive neurological defects, together with retardation of growth and mentation and abnormal hair. Two autopsied cases showed identical pathological features, including pili torti with monilethrix and severe degenerative changes in the central nervous system. Detailed studies of these abnormal tissues, including the results of biochemical analysis (reported in part 2), has suggested that a specific genetically determined metabolic defect, leading to an aberration in fatty acid composition of the gray matter of the brain, has manifested itself as a distinct syndrome, which we have called kinky hair disease.

Kinky Hair Disease

A family of 9 siblings included 6 boys, by 2 different fathers, all of whom demonstrated early in life profound and progressive neurological defects, together with retardation of growth and mentation and abnormal hair. Two autopsied cases showed identical pathological features, including pili torti with monilethrix and severe degenerative changes in the central nervous system. Detailed studies of these abnormal tissues, including the results of biochemical analysis (reported in part 2), has suggested that a specific genetically determined metabolic defect, leading to an aberration in fatty acid composition of the gray matter of the brain, has manifested itself as a distinct syndrome, which we have called kinky hair disease.

Axonal dystrophy in a case of Canavan's spongy degeneration

SPONGY DEGENERAT~ON of the central nervous system, or Canavan’s disease, is a rare genetic neurological disorder of early childhood. It is characterized clinically by progressive mental deterioration with megalocephaly and pathologically by widespread spongy change in the cerebral white matter, often considered to b e associated with demyelination, and nuclear ballooning of astrocytes. Despite the recent increase in case reports,l-7 the pathogenetic mechanism is still unknown.

Tubular Particles in a Case of Recurrent Lymphocytic Meningitis Followed by Amyotrophic Lateral Sclerosis

A patient suffered recurrent episodes of aseptic lymphocytic meningitis for many years and then developed amyotrophic lateral sclerosis (ALS). Immune-complexes were deposited in the renal glomerular basement membrane and mesangia. The necropsy study revealed both lymphocytic meningitis and ALS. Study of the motor neurons with the electron microscope revealed proliferation of endoplasmic reticulum, small cytoplasmolytic areas and focal neurofibrillar accumulations in axons. Interwoven, serpentine 10–15 nm. tubules first appeared with ER proliferation and, presumably at a later stage, were sometimes present in large masses. These tubules might be virus material but virus cultures, including tissue culture, and animal inoculations have thus far been negative.

Kinky Hair DiseaseI. Clinical and Pathological Features

A family of 9 siblings included 6 boys, by 2 different fathers, all of whom demonstrated early in life profound and progressive neurological defects, together with retardation of growth and mentation and abnormal hair. Two autopsied cases showed identical pathological features, including pili torti with monilethrix and severe degenerative changes in the central nervous system. Detailed studies of these abnormal tissues, including the results of biochemical analysis (reported in part 2), has suggested that a specific genetically determined metabolic defect, leading to an aberration in fatty acid composition of the gray matter of the brain, has manifested itself as a distinct syndrome, which we have called kinky hair disease.