MULTIPLE MALFORMATIONS STUDIED WITH A NATIONAL REGISTER OF MALFORMATIONS

PEDIATRICS ◽  
1969 ◽  
Vol 44 (3) ◽  
pp. 410-417
Author(s):  
Bengt Källén ◽  
Jan Winberg
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Congenital Malformations ◽  
Cleft Lip ◽  
Simultaneous Occurrence ◽  
National Register ◽  
Drug Induced ◽  
Malformation Syndrome ◽  
Specific Syndrome ◽  
The Central Nervous System

An analysis was performed of 120 children, born with multiple malformations and reported to the Swedish national register of congenital malformations. The simultaneous occurrence of two or more specific malformations may be random or due to the presence of a specific syndrome. A statistical analysis demonstrates that specific associations do occur between certain malformations, and one "new" syndrome was found, consisting of closure defects of the central nervous system, an- or microphthalmia, cleft lip and/or cleft palate, and reduction malformations of the limbs, not related to the amelia-phocomelia group. Children with this constellation of malformations were especially common during the first half of 1965. Its cause is unknown. The method of analysis presented may be useful for an early detection of a new, drug-induced malformation syndrome.

scholarly journals Embryology of Spinal Dysraphism and its Relationship to Surgical Treatment

2020 ◽  
Vol 47 (6) ◽  
pp. 736-746
Author(s):  
Matthew E. Eagles ◽  
Nalin Gupta
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Surgical Treatment ◽  
Gestational Age ◽  
Congenital Malformations ◽  
Spinal Dysraphism ◽  
Embryological Development ◽  
Correct Treatment ◽  
Pathological Correlation ◽  
The Central Nervous System

ABSTRACT:Spinal dysraphism is an umbrella term that encompasses a number of congenital malformations that affect the central nervous system. The etiology of these conditions can be traced back to a specific defect in embryological development, with the more disabling malformations occurring at an earlier gestational age. A thorough understanding of the relevant neuroembryology is imperative for clinicians to select the correct treatment and prevent complications associated with spinal dysraphism. This paper will review the neuroembryology associated with the various forms of spinal dysraphism and provide a clinical-pathological correlation for these congenital malformations.

Glioblastoma Multiforme with Hypodipsic Hypernatremia in a Seven-Month-Old Golden Retriever

2016 ◽  
Vol 52 (5) ◽  
pp. 319-324 ◽  
Author(s):  
Stephanie Engel ◽  
Karen Marie Hilling ◽  
Travis Kuder Meuten ◽  
Chad Brendan Frank ◽  
Angela J. Marolf
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Glioblastoma Multiforme ◽  
Glial Cell ◽  
Congenital Malformations ◽  
Cell Tumor ◽  
Golden Retriever ◽  
Neoplastic Process ◽  
Underlying Causes ◽  
The Central Nervous System

ABSTRACT Primary hypodipsic hypernatremia is a rarely reported disease in dogs. Reported underlying causes associated with this disease in dogs include congenital malformations, encephalitis, intracranial neoplasia, and pressure atrophy of the hypothalamus secondary to hydrocephalus. The dog in this report had an infiltrative neoplastic disorder, likely causing damage to the hypothalamic osmoreceptors responsible for the thirst generation. The neoplastic process was identified histopathologically as glioblastoma multiforme, an unusual tumor to occur in a dog this young. A tumor of the central nervous system causing physical destruction of the osmoreceptors has rarely been reported in dogs and none of the previously reported cases involved a glial cell tumor.

scholarly journals Acute Graft-Versus-Host Disease, Infections, Vascular Events and Drug Toxicities Affecting the Central Nervous System

2021 ◽  
Vol 12 ◽  
Author(s):  
Janaki Manoja Vinnakota ◽  
Robert Zeiser
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Acute Gvhd ◽  
Hematopoietic Cell Transplantation ◽  
Neurological Deficits ◽  
Vascular Events ◽  
Drug Induced ◽  
Curative Therapy ◽  
The Central Nervous System ◽  
Acute Graft

Allogeneic hematopoietic cell transplantation (allo-HCT) is a curative therapy for patients with hematological malignancies. Acute Graft versus host diseases (GVHD) is a major immune mediated side effect of allo-HCT that can affect the central nervous system (CNS) in addition to post-allo-HCT vascular events, drug toxicity or infections. Here we summarize and discuss recent preclinical data on the CNS as a target of acute GVHD and the known mechanisms contributing to neurotoxicity with a focus on microglia and T cells. We also discuss open questions in the field and place the findings made in mouse models in a clinical context. While in mice the neurological deficits can be assessed in a controlled fashion, in patients the etiology of the CNS damage is difficult to attribute to acute GVHD versus infections, vascular events, and drug-induced toxicity. Ultimately, we discuss novel therapies for GVHD of the CNS. Our understanding of the biological mechanisms that lead to neurotoxicity after allo-HCT increased over the last decade. This review provides insights into CNS manifestations of GVHD versus other etiologies of CNS damage in mice and patients.

scholarly journals Multiple Cephalic Malformations in a Calf

Animals ◽  
2020 ◽  
Vol 10 (9) ◽  
pp. 1532
Author(s):  
Di Muro G. ◽  
Cagnotti G. ◽  
Bellino C. ◽  
Capucchio M.T. ◽  
Colombino E. ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Congenital Malformations ◽  
Cleft Lip ◽  
Congenital Abnormalities ◽  
Presumptive Diagnosis ◽  
Intracranial Lesion ◽  
Median Cleft ◽  
The Central Nervous System ◽  
Similar Combination ◽  
Neurologic Findings

Congenital malformations of the central nervous system (CNS) can affect the CNS alone or the CNS and craniofacial structures. Here, we report an unusual and complex congenital cephalic malformation observed in a 3-day-old male crossbreed calf. Clinical examination disclosed a dome-shaped cranial vault, a flat face with a short snout, a median cleft lip, and increased intraorbital distance. The frontal region of the head was remarkable for a fluctuant, sac-like protrusion covered with haired skin. Neurologic findings suggested a multifocal intracranial lesion affecting the prosencephalon and the central vestibular system. While pathological and histopathological findings posited for a presumptive diagnosis of either hydranencephaly or holoprosencephaly associated with multiple congenital facial abnormalities, not all the findings could be definitely attributed to either of the two encephalic malformations alone. To our knowledge, a similar combination of severe congenital abnormalities affecting both the CNS and the craniofacial structures has not been reported in calves to date.

scholarly journals The central nervous system lesion in amniotic rupture sequence

2018 ◽  
Vol 45 (S1) ◽  
pp. S4-S4
Author(s):  
P. Shannon
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Aqueductal Stenosis ◽  
Cranial Vault ◽  
Central Nervous System Lesion ◽  
Secondary Pathology ◽  
The Central Nervous System ◽  
Near Occlusion

We review the central nervous system anatomy in nine cases of amniotic rupture sequence, all of which had neuropathological examinations. Of these, four had normal brains, and in none of these was the cranial vault involved, and one had cleft lip and palate. Of the remaining five, all had portions of the scalp, calvarium and dura replaced by amnionic membrane directly overlying arachnoid. In one, the membrane covered a narrow necked large encephalocele, and the contained brain demonstrated extensive disruption and degeneration. In the remaining four, one demonstrated cranioplacental adhesion, and in three there was a broad based encephalocele covered in large part by amnion. Two of these four cases demonstrated holoprosencephaly. One case with holoprosencephaly and one without demonstrated marked aqueductal stenosis, and two of the four demonstrated aqueductal occlusion or near occlusion by neuroglial excrescences. None demonstrated ventriculomegaly. Three of these four cases demonstrate varying degrees of mechanical distortion and secondary pathology. We conclude that brains with amnionic rupture sequence demonstrate both malformation and deformation, which likely points to the embryonic stage origin of the lesion.

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