Niemann‐Pick disease in a fœtus

Burne, J. C.

doi:10.1002/path.1700660217

Cited by 20 publications

(5 citation statements)

References 2 publications

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“…Although vessels were abnormal throughout brain and spinal cord, neuronal and axonal changes were found only in basal ganglia and more caudal levels of the neuraxis. This earlier involvement of the more mature central nervous system areas is similar to that observed in a full term stillborn infant [11] and in an 8-month-old infant [16] with NPD, as well as in a 21-wk fetus with Tay-Sachs disease [1] and a 20-wk fetus with Krabbe's disease [30].…”

Section: Enzyme Histochemistrysupporting

confidence: 75%

Prenatal Niemann-Pick Disease: Biochemical and Histologic Examination of a 19-Gestational Week Fetus

et al. 1972

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Prenatal diagnosis of Niemann-Pick disease was confirmed by deficiency of sphingomyelinase activity and increase in sphingomyelin content in the liver of an affected fetus. Morphologic findings included cellular enlargement with cytoplasmic vacuolization and eccentric nuclei on light microscopy, increased deposition of phospholipids demonstrated by lipid histochemistry, and increased acid phosphatase activity by enzyme histochemistry. When visualized under electron microscopy, lipid cytosomes characteristic of the sphingolipid storage diseases were seen in hepatocytes, splenic cells, the endothelium and pericytes of cerebral vessels as well as in occasional neurons. Sphingolipid accumulation and morphologic findings indicate that biochemical and pathologic manifestations are well advanced in organs destined to produce the earliest clinical signs. Speculation Early pathologic manifestations observed in a 19-gestational week fetus suggest that any peri-or postnatal therapy devised for Niemann-Pick disease, Type A is likely to be ineffective unless it can reverse the already existing central nervous system damage.

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Section: Enzyme Histochemistrysupporting

confidence: 75%

Prenatal Niemann-Pick Disease: Biochemical and Histologic Examination of a 19-Gestational Week Fetus

et al. 1972

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Section: Fig 1 Liver Of Fetus With Niemann-pick Disease Survey Elesupporting

confidence: 81%

“…The spleen, lymphoid tissue, and adrenal cortex of a full term stillborn infant described by Burne [11] were heavily infiltrated by typical NPD foam cells. Unlike the present case, hepatocyte cytoplasm was distended with glycogen rather than phospholipid.…”

Section: Fig 1 Liver Of Fetus With Niemann-pick Disease Survey Elementioning

confidence: 99%

Prenatal Niemann-Pick Disease: Biochemical and Histologic Examination of a 19-Gestational Week Fetus

et al. 1972

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“…It is now known that congenital forms of amaurotic family idiocy may also occur (Norman and Wood. 1941) and a case of congenital Niemann-Pick disease has, likewise, been described by Burne (1953).…”

Section: Discussionmentioning

confidence: 95%

A Case of Lipoidosis Following Rh Factor Incompatibility

Crome¹

1956

Journal of Clinical Pathology

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The present knowledge of the morphological changes in cases of residual kernicterus is based on the descriptions of 17 cases, to which I was able to add another two (Crome, 1955). The changes were characterized by focal lesions in the globus pallidus, corpus Luysii, and diffuse loss of nerve cells in the cerebral cortex. The two cases mentioned above were in a series of 140 consecutive necropsies of low-grade mental defectives at the Fountain Hospital. A third case of the same series with established factor incompatibility, neonatal jaundice, and erythroblastosis foetalis presented, however, a different clinical picture, and the morphological changes at necropsy were those of a lipoidosis. It seemed useful, therefore, to record this case. Case ReportThe patient's mother had three normal children by two different men before she entered upon an incestuous relationship with her brother, the issue of which was another normal child followed by a miscarriage and then by the patient. The patient's father had had malaria and was reported to be very nervous and a heavy drinker. His blood group is not known.The mother, who is of normal intelligence, was assaulted and beaten during the patient's gestation and had unspecified kidney trouble. She is rhesus negative, cde/cde, and had had a transfusion of rhesus-positive blood a year before her confinement. Her blood serum contained rhesus antibodies of anti-D type, and she was warned that the child would be jaundiced.She was 40 years old at the time of the confinement.Labour was induced by injection at eight months, and the child, a male weighing 7 lb., was delivered by forceps. Deep jaundice developed within a few hours, the Coombs test was positive, the blood group was R2r, 0, and the infant's haemoglobin (Haldane 100% = 148 g.%) fell to 70%. He was transfused with 70 ml. of rhesus negative blood. At 12 days .the haemoglobin was 92% and the jaundice had cleared.He was taken later to an out-patient department of another hospital at the age of 3 weeks. At that time he was pale, haemoglobin being 80%, gradually dropping to 68% at 6 weeks, when he was admitted to hospital for possible transfusions. His weight was at that time 9 lb., and there was slight splenomegaly and hepatomegaly. Blood transfusion was not repeated, however, and when last seen at that hospital aged 21 months the haemoglobin was 84% with 5,000,000 R.B.C.s. He was regarded as a case of haemolytic disease of the newborn.The retardation of the patient's mental and physical development was noticed early. His mother considered that he was deaf and blind, and thinks that he may have had epileptic fits.He was admitted to the Fountain Hospital at 1 year and 5 months. His mental state was that of an idiot. He could crawl about aimlessly in his cot, did not react to speech, but it is possible that he heard loud noises. He did not grasp objects placed in his hand. Spasms, twitching, and irregular movements were noticed at various times during his stay in hospital, their nature remaining uncertain. Some observers regarde...

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Niemann‐Pick disease in a fœtus

Cited by 20 publications

References 2 publications

Prenatal Niemann-Pick Disease: Biochemical and Histologic Examination of a 19-Gestational Week Fetus

Prenatal Niemann-Pick Disease: Biochemical and Histologic Examination of a 19-Gestational Week Fetus

Prenatal Niemann-Pick Disease: Biochemical and Histologic Examination of a 19-Gestational Week Fetus

A Case of Lipoidosis Following Rh Factor Incompatibility

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