Sex-linked Hydrocephalus: Report of a Family with 15 Affected Members

Edwards, J. H.; Norman, R. M.; Roberts, J. M.

doi:10.1136/adc.36.189.481

Cited by 82 publications

(20 citation statements)

References 6 publications

(4 reference statements)

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“…Only a small number of entities have been clearly defined in which hydrocephalus is a predominant manifestation. The most common is the X- linked recessive form [14]. Considerably less common are autosomal recessive cases [8].…”

Section: Discussionmentioning

confidence: 99%

Congenital Fusion of the Thalami (Atresia of the Third Ventricle) Associated with Parietooccipital Meningocele

et al. 2010

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In this article we present a case of a male newborn with a CNS malformation that is characterized mainly by complete fusion of the thalami resulting in atresia of the 3rd ventricle accompanied by fusion of the anterior peduncles of the fornix, the presence of a single occult interventricular foramen lying at the midline, absence of the septum pellucidum, hypoplasia of the corpus callosum, disorganization of the head of the left caudate nucleus, and greatly dilated lateral ventricles (hydrocephalus). The patient underwent surgical correction of the meningocele on his 4th postnatal day. On his 13th postnatal day he had projectile vomiting due to a left parietooccipital hygroma that was drained via a shunt. On his 31st postnatal day he developed seizures and marked dilatation of the lateral ventricles, for which he underwent a ventriculoperitoneal shunt (Brown). On the 14th postoperative day the patient developed aspiration pneumonia and died.

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Section: Discussionmentioning

confidence: 99%

Congenital Fusion of the Thalami (Atresia of the Third Ventricle) Associated with Parietooccipital Meningocele

et al. 2010

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“…In 1949, Bickers and A dams [1,2] reported the first neuropathological examination in a newborn, showing a pure stenosis of the aqueduct, and in 1961, E dwards [5] and E dwards et al [6] added the adduction-flexion deformity of the thumbs to the description. This syndrome is now rather well documented, but fortunately remains very uncommon; we have been able to record 26 families in the world literature and only three, from the French pediatri cians [7,11,15], The aqueductal stenosis seems constant.…”

Section: Discussionmentioning

confidence: 99%

“…Congenital hydrocephalus is usually a sporadic disorder, but some cases are genetically determined, as in the syndrome of sex-linked hydro cephalus -a syndrome described by Bickers and Adams [1, 2| in 1949, and completed by Edwards in 1961 [5,6], It is due to a defective, re-Sex-urvueq h yd ro c e p h a lu s gressive gene on an X-chromosome. Hydrocephalus seems to be caused by an aqueductal stenosis.…”

Section: Introductionmentioning

confidence: 99%

X-Linked Hydrocephalus, with Aqueductal Stenosis, Mental Retardation, and Adduction-Flexion Deformity of the Thumbs

Faivre¹,

B²,

Bretagne³

et al. 1976

Pediatr Neurosurg

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A new family is reported of a Bickers-Adams-Edwards syndrome. This family has been studied up to three generations. Two female carriers are known. Among the six male children who are affected, four are severely mentally retarded, have spasticity of the legs, and survived with a mild macrocephaly, and two show a more severe and rapid progression of head enlargement. A partial aqueductal stenosis, with remarkable ventricular dilatation, has been demonstrated by pneumoencephalography in three boys. A deformity of the thumbs links these six children together. One of them has been treated by a ventriculoperitoneal shunt, when 18 months old, without any improvement in the neurological condition. The mental deficiency is much more severe than could be expected from the degree of hydrocephalus, at least as estimated clinically by the macrocephaly. Hydrocephalus is precocious, and the ventricular dilatation very advanced when seen by PEG studies. Recognition of the female carriers is not possible.

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“…Recent reports suggest that aqueductal stenosis is not a primary occlusion but occurs secondary to communicating hydrocephalus [2,48,58,73]. At present, primary aqueductal stenosis is mainly limited to genetic disease such as Xlinked hydrocephalus [14] and malformation.…”

Section: Pathophysiology Of Hydrocephalusmentioning

confidence: 99%

Hydrocephalus — revision of its definition and classification with special reference to “intractable infantile hydrocephalus”

Mori

1990

Child's Nerv Syst

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With the advent of computed tomography (CT) scan, much information has been obtained about the pathophysiology of hydrocephalus. It is now clear that hydrocephalus is not a disease entity but rather a syndrome or sign resulting from disturbances in the dynamics of cerebralspinal fluid (CSF) caused by various diseases. Consequently, it has become necessary to revise its definition and classification. In this paper, a contemporary definition and classification of hydrocephalus are presented. Also, a classification of "intractable hydrocephalus"--with its diagnostic criteria--which is a clinically unsolved problem, is attempted, bearing in mind its place in the clinical management and future investigation of the pathophysiology of hydrocephalus.

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Sex-linked Hydrocephalus: Report of a Family with 15 Affected Members

Cited by 82 publications

References 6 publications

Congenital Fusion of the Thalami (Atresia of the Third Ventricle) Associated with Parietooccipital Meningocele

Congenital Fusion of the Thalami (Atresia of the Third Ventricle) Associated with Parietooccipital Meningocele

X-Linked Hydrocephalus, with Aqueductal Stenosis, Mental Retardation, and Adduction-Flexion Deformity of the Thumbs

Hydrocephalus — revision of its definition and classification with special reference to “intractable infantile hydrocephalus”

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