Cerebral Gigantism in Childhood

Sotos, Juan F.; Dodge, Philip R.; Muirhead, Donald M.; Crawford, John D.; Talbot, Ńathan B.

doi:10.1056/nejm196407162710301

Cited by 373 publications

(107 citation statements)

References 9 publications

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“…Against this are the delays of two and four hours before definite signs of brain damage appeared. These intervals are comparable with those observed in animal experiments after the intraperitoneal injection of hypertonic solutions, and are considerably longer than those found after intravenous injections (Sotos et al, 1960 ;Dodge et al, 1962). Although it is less valuable as evidence, the lack of histological damage to the spinal cord and extradural spinal veins also argues against the possible role of Batson's plexus.…”

Section: Resultssupporting

confidence: 85%

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Association of Brain Damage with Therapeutic Abortion Induced by Amniotic-fluid Replacement: Report of Two Cases

Cameron¹,

Dayan²

1966

BMJ

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Recently amniotic-fluid replacement by the intrauterine injection of strongly hypertonic solutions has been used increasingly often to produce therapeutic abortions or to induce labour when the foetus is already known to be dead (Csapo, 1961;Wood, Booth, and Pinkerton, 1962). Few complications of the method have been reported, though it has been tried and discarded by other workers because of the risk of intrauterine sepsis (Peel, 1935). Two cases are reported in which widespread cerebral infarction occurred after the procedure and in which it was possible that the strongly hypertonic solutions employed were responsible for the brain damage. Case 1A previously healthy 20-year-old secretary was advised, on psychiatric grounds, to have a therapeutic abortion in the 20th week of her first pregnancy. The operation was performed under local anaesthesia by inserting a fine trocar and cannula through the anterior abdominal and uterine walls into the amniotic cavity, removing about 200 ml. of amniotic fluid, which was lightly bloodstained, and injecting manually approximately 400 ml. of sterile 20 ', sodium chloride solution. She appeared well immediately afterwards, but complained of a burning sensation in her finger-tips. After about four hours her condition deteriorated, and she began to have epileptiform fits. About 12 hours after the operation her blood-pressure was said to be normal. Sedatives were given parenterally as symptomatic treatment, but she suddenly stopped breathing and died some 22 hours after the intrauterine injections. A dead foetus had been delivered 12 hours after the intra-amniotic injection. Twelve hours after the amniocentesis serum electrolytes were: chlorides 143 mEq/l., sodium 174 mEq/l., potassium 3.7 mEq/l., urea 26 mg./100 ml.Necropsy showed evidence of the recent pregnancy. In the anterior wall of the fundus of the uterus there were two puncture wounds which appeared to have penetrated through the placental bed. The brain on removal appeared to be slightly oedematous, and no subdural or subarachnoid haemorrhages were seen. The lungs showed patchy collapse. The cardiovascular system seemed to be normal and there was no evidence of air embolism. There was no peritonitis, nor any excess of fluid or blood in the peritoneal cavity. The kidneys appeared normal. The foetus and placenta were not available for examination. Microscopical Examination of VisceraSections of heart, lungs, kidneys, liver, and spleen showed no histological abnormality. Pregnancy changes were seen in the pituitary, the breasts were active, and trophoblastic tissue was seen at the placental site in the uterus. Brain and Spinal CordAfter fixation the brain was cut in coronal slices. These showed symmetrical haemorrhagic softenings of both amygdaloid nuclei, sparing only a thin rim supero-medially, and similar softening of the adjacent parts of both the right and left uncus (Special Plate, Fig. 1). The inferior parts of both claustra and the adjacent insular cortex were haemorrhagic. Other parts of the cerebrum appeared nor...

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Section: Resultssupporting

confidence: 85%

“…records have suggested acute cortical damage (Sotos, Dodge, Meara, and Talbot, 1960). In these experiments it has been shown that, although the systemic blood-pressure may fall, cerebral damage occurs even if it is kept constant (Rush et al, 1961).…”

Section: Brain Damage In Other Clinical Conditionsmentioning

confidence: 99%

Association of Brain Damage with Therapeutic Abortion Induced by Amniotic-fluid Replacement: Report of Two Cases

Cameron¹,

Dayan²

1966

BMJ

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“…In 1964 Sotos et all described five children with (1) large body size and early accelerated growth, (2) acromegaloid features, (3) advanced bone age, and (4) developmental delay and a non-progressive neurological disorder. Since this report over 200 further cases have been described, many with additional observations.…”

Section: T R P Cole H E Hughesmentioning

confidence: 99%

Sotos syndrome.

Cole¹,

Hughes²

1990

Journal of Medical Genetics

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“…Since five children with Sotos syndrome were described by Sotos et al [1964], many patients with the syndrome have been reported. Cardinal clinical manifestations of the syndrome are prenatal-onset excessive somatic growth, advanced bone age, characteristic facial appearance, mild to moderate mental retardation, and seizure and/or EEG abnormality.…”

Section: Introductionmentioning

confidence: 99%

Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1)

et al. 2001

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We describe a de novo balanced reciprocal translocation between the long arms of chromosomes 5 and 8 [46,XX,t(5;8)(q35;q24.1)] in a 15‐month‐old girl with a typical Sotos syndrome phenotype. Involvement of the 5q35 region was previously reported (Maroun et al. [1994: Am J Med Genet 50:291–293]) as one of translocation breakpoints in the present patient. We suggest that the gene responsible for Sotos syndrome is located to a distal long‐arm region of chromosome 5. © 2001 Wiley‐Liss, Inc.

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Cerebral Gigantism in Childhood

Cited by 373 publications

References 9 publications

Association of Brain Damage with Therapeutic Abortion Induced by Amniotic-fluid Replacement: Report of Two Cases

Association of Brain Damage with Therapeutic Abortion Induced by Amniotic-fluid Replacement: Report of Two Cases

Sotos syndrome.

Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1)

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