Cerebral malformation and degeneration produced in later foetal life by a primary cardiac anomaly

Fowler, Malcolm; Mellor, Geoffrey W.

doi:10.1002/path.1700900220

Cited by 4 publications

(3 citation statements)

References 8 publications

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“…The one joint examined (a knee joint) showed no intrinsic abnormality except for defective separation of the synovium and capsule from the cartilaginous surfaces of the femur and tibia. Arthrogryposis multiplex congenita may result from immobilization in utero, produced by such diverse abnormalities as congenital muscular dystrophy (Banker et al 1957), micropolygyria and spinal cord abnormality (Fowler 1959), tuberous sclerosis (Sandbank and Cohen 1964) or spinal-type muscular atrophy (Besser and Behar 1967).…”

Section: Clinical Commentsmentioning

confidence: 99%

“…Therefore although hydrocephalus has an important association with hydrencephaly, it is more likely that its pathogenesis is secondarily or concur-rently related to the cause of the hydrencephaly. For further details and references to the literature on the morphology of hydrencephaly, the paper by Fowler et al (1971) may be consulted.…”

Section: Clinical Commentsmentioning

confidence: 99%

“…Various other causes have been suggested, including local vascular abnormalities such as intraventricular haemorrhage or internal carotid artery obstruction, abdominal trauma to the mother, and maternal circulatory failure either from severe cardiac disease or traumatic shock (references by Fowler et al 1971). In a large proportion of cases no possible clinical circumstances relating to the cause can be unearthed.…”

Section: Aetiology Of Hydrencephaly: Other Suggested Factorsmentioning

confidence: 99%

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Congenital Hydrocephalus‐Hydrencephaly in Five Siblings, with Autopsy Studies: a New Disease

Fowler

Dow²,

White

et al. 1972

Develop Med Child Neuro

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SUMMARY Following hydramnios, five female arthrorgypotic siblings were born around the 30th week of gestation, labour being further complicated by hydrocephalus. Full autopsy on two babies showed a diffuse destructive process in the brain and spinal cord, resulting in hydren‐cephaly in the forebrain, and gliosis elsewhere, the aqueduct of Sylvius being stenosed to produce hydrocephalus. Striking microscopic changes were the glomeruloid vessels in the brain, spinal cord and retina, and the intracytoplasmic inclusions in pericytes; focal necrosis with calcification was a third important finding. Other systems, apart from the deformed limbs and the small suprarenals, were normal. Investigation yielded no evidence of infection in the parents or babies. Various intra‐uterine infections known to produce malformations, including hydrencephaly, are considered and rejected. The condition, apparently not previously described, is thought to be of genetic origin, possibly a defect in the vascularization of the central nervous parenchyma. RÉSUMÉ Hydrocéphalie‐hydrencéphalie congénitales dans une fratrie de cing A la suite d'un hydramnios, cinq soeurs atteintes d'arthrogrypose sont nCes aux environs de la 30 éme semaine de gestation. Le travail fut compliquépar l'hydrocéphalie. Une autopsie complète de deux bébés révéla un processus destructif diffus du cerveau et de la moelle épiniére avec hydrencéphalie du cerveau antCrieur et gliose ailleurs. L'hydrocCphalie Ctait le résultat d'une stéose de l'aqueduc de Sylvius. Trois importantes découvertes ont CtC des modifications microscopiques frappantes des vaisseaux glomtrulaires du cerveau, de la moelle tpinitre et de la rCtine, des inclusions intracytoplasmiques dans les pkricytes et des ntcroses focales avec calcification. A l'excep‐tion. A l'exception de membres dCformCs et de surrtnales petites, les autres organes étaient normaux. L'anamnèse n'a apporté aucune indication d'infection chez les parents ou les bébés. Des infections intra‐utérines variées connues pour produire des malformations, incluant l'hydrencéphalie ont été envisagées et rejettes. Le tableau, qui ne semble pas avoir été décrit auparavant, parait être d'origine gCnktique, se traduisant peut être par un défaut de vascularisation du parenchyme du système nerveux central. ZUSAMMENFASSUNG Nach bestehendem Hydramnion wurden funf weibliche Geschwister mit Arthrogryposis um die 30 igste Schwangerschaftswoche geboren. Die Geburt wurde weiter durch Hydro‐cephalie kompliziert. Eine vollständige Autopsie an zwei Babies zeigte einen diffusen, destruktiven Prozeß im Gehirn und im Rückenmark, der Hydrencephalie im Vorderhirn und Gliosis an anderer Stelle zur Folge hatte. Der Hydrocephaus war bedingt durch eine Stenose des Aqueductus Sylvii. Drei wichtige Befunde waren besonders auffallend: Mikroskopische Veränderungen der glomeruloiden Gefäße im Gehirn, Rückenmark und in der Retina, Einschlußkörperchen im Cytoplasma der Pericyten und fokale Nekrose mit Verkalkungen. Außer deformierten Extremitäten und kleinen Nebennieren gab ...

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Section: Clinical Commentsmentioning

confidence: 99%

Section: Clinical Commentsmentioning

confidence: 99%

Section: Aetiology Of Hydrencephaly: Other Suggested Factorsmentioning

confidence: 99%

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Congenital Hydrocephalus‐Hydrencephaly in Five Siblings, with Autopsy Studies: a New Disease

Fowler

Dow²,

White

et al. 1972

Develop Med Child Neuro

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Congenital Leigh's disease: Panencephalomyelopathy and peripheral neuropathy

et al. 1984

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A dystrophic newborn girl (38th week of gestation) presented as a floppy infant with relapsing episodes of lactic acidosis and progressive cerebral deterioration. She died after serious apnoea at the age of 8 weeks. Neuropathological examination demonstrated widespread changes of Leigh's subacute polioencephalomyelopathy affecting the cerebral cortex, basal ganglia, mesencephalon and spinal cord. In addition, there was severe leukoencephalopathy of the cerebral hemispheres with sudanophilic tissue degregation, advanced axonal loss and reactive astrocytic gliosis. There was marked demyelination of the sciatic nerves. Electron-microscopical examination of the hypertrophic heart revealed pathological mitochondria with tubular inclusions suggestive of primary mitochondrial cardiomyopathy. Similar mitochondrial changes were not detected in the CNS and PNS. The complex of neuropathological alterations in this case is nevertheless consistent with a congenital variant of Leigh's disease.

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1983

The Developing Human Brain

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Cerebral malformation and degeneration produced in later foetal life by a primary cardiac anomaly

Cited by 4 publications

References 8 publications

Congenital Hydrocephalus‐Hydrencephaly in Five Siblings, with Autopsy Studies: a New Disease

Congenital Hydrocephalus‐Hydrencephaly in Five Siblings, with Autopsy Studies: a New Disease

Congenital Leigh's disease: Panencephalomyelopathy and peripheral neuropathy

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