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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease hydrocephalus
Symptom C0009814|stenosis
Sentences 16
PubMedID- 22381825 Background: idiopathic aqueductal stenosis is a cause of noncommunicating hydrocephalus, which actual treatment with endoscopic third ventriculostomy (etv) could assess without any interference with the etiology.
PubMedID- 24082949 Magnetic resonance imaging of the brain revealed obstructive hydrocephalus with aqueductal stenosis figure 1.
PubMedID- 21743484 After birth, the features were confirmed by brain us and mr imaging, which showed lateral ventricular enlargement and obstructive hydrocephalus with aqueductal stenosis (figure 3a, b).
PubMedID- 22639718 A 46-year-old woman (159 cm, 59 kg) suffered from several years of headache and memory disturbance was scheduled for the endoscopic third ventriculostomy for aqueductal stenosis with hydrocephalus (fig.
PubMedID- 20157714 Factors influencing spinal canal stenosis in patients with long-term controlled hydrocephalus treated with cerebrospinal fluid shunt.
PubMedID- 20301657 The phenotypic spectrum of l1 syndrome includes: x-linked hydrocephalus with stenosis of the aqueduct of sylvius (hsas); masa syndrome (mental retardation, aphasia delayed speech, spastic paraplegia shuffling gait, adducted thumbs); spg1 (x-linked complicated hereditary spastic paraplegia type 1); and x-linked complicated corpus callosum agenesis.
PubMedID- 21827687 Midsagittal t1-weighted mri of his head showing hydrocephalus with stenosis of aqueduct (arrow).
PubMedID- 25982686 To the best of our knowledge, this may only be the second reported case of hydrocephalus attributable to aqueductal stenosis caused by aspergillosis.
PubMedID- 26078893 Bickers and adams 1 first termed it hereditary familial hydrocephaly when they described the condition in 1949 and identified aqueductal stenosis as the cause of hydrocephalus through postmortem studies.
PubMedID- 24236178 To clarify the role of afadin in the development of the cns, we generated the nestin-cre-mediated cko mice of the afadin gene and showed here that the genetic deletion of afadin in the brain caused hydrocephalus with stenosis of the cerebral aqueduct and obliteration of the ventral part of the third ventricle.
PubMedID- 22530174 In cases of non-communicating hydrocephalus, such as in patients with aqueduct stenosis, this hypothetical shunt would be inserted into the ventricular cavity, whereas in cases of communicating hydrocephalus such as chronic arachnoiditis or fibrosis, the shunt could be inserted anywhere in the ventriculosubarachnoid axis; for instance, it could be placed in the lumbar area eluding the introduction of a ventricular catheter through the brain tissue.
PubMedID- 23630292 Genetic deletion of rnd3 results in aqueductal stenosis leading to hydrocephalus through up-regulation of notch signaling.
PubMedID- 24813870 To date, no case of cervicomedullary spinal canal stenosis with hydrocephalus has been reported with 16p12.1 microdeletion syndrome.
PubMedID- 21569638 X-linked hydrocephalus with aqueductal stenosis (mim 30700) is the most common form of hereditary hydrocephalus with an incidence of 1/30,000 in male neonates.
PubMedID- 22236945 In this study, we review the literature and report the first case of congenital hydrocephalus associated with aqueductal stenosis from a developmental venous anomaly.
PubMedID- 20514325 Barkovich and norman reviewed the magnetic resonance images of 35 brains that lacked the septum pellucidum and reported the presence of one or more additional malformations, including septo-optic dysplasia, schizencephaly, chiari ll malformation, holoprosencephaly, encephalocele, agenesis of the corpus callosum, porencephaly, hydranencephaly and hydrocephalus with aqueductal stenosis, in every case.

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