Exencephaly in Cantrell-Haller-Ravitsch syndrome (original) (raw)
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Neuropathology and Applied Neurobiology, 1988
Pathological findings in four cases of hemimegalencephaly are presented. These cases demonstrated diffuse enlargement of the cortex with disappearance of horizontal layering of the neurons restricted to one hemisphere. In all cases there was marked enlargement of a high percentage of neurons. The nosological situation is discussed and is considered to be heterogeneous; cases 1 3 had cerebral lesions without lesions of the skin or viscera. In these three cases, significant glial abnormalities were found in only one. These cases and others quoted in the literature were considered to be a separate entity completely different from Bourneville's tuberous sclerosis. The aetiology of this developmental malformation remains unknown; genetic factors were not found. Case 4 was associated with a cardiac lesion and with a linear sebaceous naevus characteristic of Solomon's syndrome. Periventricular tumours resembling candlewax drippings were noted. This case, close to Bourneville's disease, could be incorporated into the framework of neuroectodermoses together with tuberous sclerosis.
Medical Ultrasonography, 2013
The pentalogy of Cantrell, a rare syndrome, consists of the defects in the anterior diaphragm, diaphragmatic pericardium, lower sternum and supraumbilical abdominal wall, along with congenital cardiac abnormalities. Till date, only few patients with full spectrum of this syndrome have been reported with only 2 cases showing associated exencephaly and spinal dysraphism. We report extremely rare association of complete pentalogy of Cantrell syndrome with exencephaly and spinal dysraphism on antenatal sonogram and autopsy in a 18 weeks fetus of a 19 year-old primi gravida female.
Seminars in Neurology, 2014
In the past two decades, significant progress in neuroimaging and genetic techniques has allowed for advances in the correct definition/classification of congenital brain abnormalities, which have resulted in a better understanding of their pathogenesis. In addition, new groups of diseases, such as axonal guidance disorders or tubulinopathies, are increasingly reported. Well-defined neuroimaging diagnostic criteria have been suggested for the majority of congenital brain abnormalities. Accurate diagnoses of these complex abnormalities, including distinction between malformations and disruptions, are of paramount significance for management, prognosis, and family counseling. In the next decade, these advances will hopefully be translated into deeper understanding of these disorders and more specific treatments.
Congenital Malformations of the Central Nervous System: Clinical Approach
Bosnian Journal of Basic Medical Sciences, 2008
Central nervous system (CNS) malformations represent important factor of morbidity and mortality in children. Th e aim of the study was to determine the incidence, type and clinical features of CNS malformations in children who were admitted at the Neonatal and Child Neurology Department,
Arquivos de Neuro-Psiquiatria, 2000
We describe the clinical and radiological findings of a pair of siblings with cerebellar vermis hypoplasia and compare them with the literature. Both of them present pregnancies and deliveries uneventful and both presented some grade of hypotonia, ataxia, ocular motor abnormalities and mild motor delay and slurred speech. These siblings meet many of the criteria described in non-progressive congenital ataxia in which can occur familial cases with cerebellar atrophy, including vermis hypoplasia. As differential diagnosis we compare them with related syndromes and with Joubert's syndrome which main radiological finding on MRI is vermis hypoplasia associated with "molar tooth" appearance. The correct answer for these cases will only be possible by molecular genetics.