Cases reported "Encephalocele"

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1/16. Therapeutic effectiveness of acetazolamide in hindbrain hernia headache.

    A 43-year-old man had been suffering from exertional headache for 10 years. Sagittal sections on magnetic resonance imaging showed a Chiari type 1 malformation and a cerebellar arachnoid cyst. This syndrome, named hindbrain hernia headache, disappeared with oral acetazolamide. This treatment should be tried in patients with hindbrain hernia headache prior to considering surgical decompression of the foramen magnum.
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2/16. The Chiari III malformation: an unusual and asymptomatic variant in an 11-year old child.

    Chiari III malformation is an extremely rare condition, and is characterized by the hindbrain herniation into a low occipital or high cervical encephalocele together with the pathologic and imaging features of the Chiari II malformation. In this report, an unusual variant of the Chiari III malformation was diagnosed in an 11-year-old girl. She had an encephalocele operation when she was a newborn, and has been asymptomatic since then. The clinical and imaging findings of this case were presented.
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3/16. Vanishing cerebellum in myelomeningocoele.

    Reduced hindbrain herniation observed after intrauterine myelomeningocoele repair suggests that posterior fossa changes in myelomeningocoele are secondary results of prolonged prenatal spinal cerebrospinal fluid leak. Exceptionally, this transforaminal herniation results in 'degeneration' of cerebellar tissue, presumably due to mechanically induced ischaemia. This phenomenon was called 'vanishing cerebellum in Chiari II malformation'. We report three similar cases of this apparently rare finding. Pregnancies were normal. Cerebellar hypoplasia was already recognized in one instance by prenatal ultrasound at gestational week 25. Postnatal imaging was similar in all three patients showing small posterior fossa, beaked midbrain tectum, small brainstem without pontine prominence, reduced cerebellar tissue with virtual absence of one hemisphere and supratentorial hydrocephalus. Our series is too small to draw firm conclusions about predisposing risk factors for and consequences of vanishing cerebellum. Cerebellar damage can interfere with cognitive development, as shown in children with cerebellar agenesis/ hypoplasia, congenital ataxia and small cerebellum following prematurity. A final conclusion on the cognitive consequence of vanishing cerebellum cannot be drawn on the available literature and our limited observations, as one of our patients died at 3 months and another is still too young for appropriate testing. However, the third (aged 15 years) is very severely retarded.
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4/16. Rhombencephalosynapsis and a Chiari II malformation.

    Rhombencephalosynapsis is an anomaly of the hindbrain characteristically presenting with cerebellar fusion and absence of cerebellar vermis on magnetic resonance imaging. Its association with spinal anomalies has not been reported previously. We report a unique case, a 22-year-old man with cerebellar fusion associated with a cervicothoracic meningomyelocele, diastematomyelia, tethering of the spinal cord, and dorsal dermal sinuses. In addition, cerebellar tonsillar herniation and tectal beaking similar to that seen in Chiari II malformations were present. These findings suggest that rhombencephalosynapsis can be associated with spinal malformations and, furthermore, that cases with the common features of rhombencephalosynapsis and a Chiari II malformation can exist. Such an association likely represents a new anomaly of the hindbrain and spine.
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5/16. Subtorcular occipital encephaloceles. Anatomical considerations relevant to operative management.

    Three cases of occipital encephalocele, one with associated myelomeningocele, are presented. All received preoperative evaluation with magnetic resonance imaging. Such studies provide optimal demonstration of the cerebral and hindbrain anatomy to guide operative treatment and formulate prognosis. review of available radiographic, operative, and pathological information suggests that most, if not all, occipital encephaloceles are associated with an anomaly of the hindbrain, and the usual anomaly is a rhombic roof encephalocele. In such cases, the site of cranial herniation is caudal to the torcula, regardless of the presence or absence of occipital lobe tissue within the sac. Experimental and clinical analysis suggests that occipital encephaloceles most likely arise from abnormalities in the development of the skull base.
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6/16. Hindbrain hernia headache.

    In six patients with episodic, severe, and disabling headaches with specific characteristics and in whom clinical examination and CT scanning were normal the symptoms were due to hindbrain herniation into the foramen magnum with resulting craniospinal pressure dissociation. This syndrome may be recognised by eliciting the typical history. In all patients myelography showed hindbrain herniation or Arnold-Chiari deformity and surgical decompression of the foramen magnum produced complete resolution of the headaches.
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7/16. Parietal cephaloceles: radiographic and magnetic resonance imaging evaluation.

    Three patients with parietal cephaloceles underwent evaluation and treatment at Duke University Medical Center between 1984 and 1987. All presented within the first 2 years of life with painful swelling near the vertex of the head. All patients had skull films and computed tomography, and two underwent magnetic resonance imaging (MRI). All 3 children had associated hindbrain deformities; two with Dandy-Walker malformation, the third with a Chiari II malformation. Each child eventually developed hydrocephalus. MRI is the procedure of choice to evaluate these patients, providing direct sagittal imaging of the posterior fossa and craniocervical junction, and displaying communication of the cephalocele with intracranial structures as well as associated venous vascular anomalies.
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8/16. klippel-feil syndrome, iniencephalus, anencephalus, hindbrain hernia and mirror movements: overdistention of the neural tube.

    Bony anomalies encountered in the 'no neck' form of klippel-feil syndrome (KFS) are a wide, short, fused, bifid, retroflexed spinal canal; craniolacunia, cranium bifidum, and acrania. The only symptom may be mirror movement (MM). The CNS anomalies are hindbrain hernia, hydrocephalus, hydromyelia, syringomyelia, meningocele, myelocele, encephalocele, and anencephalus. In severe KFS, i.e. iniencephalus (IN) and in anencephalus (AN), the inion is in contact with the back. In both there is hindbrain hernia and the left thorax may contain the stomach tethered to an anterior spina bifida. KFS results from distortion of somites by an overdistended neural tube. A neural tube that fails to close cannot overdistend.
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9/16. syncope as a presenting feature of hindbrain herniation with syringomyelia.

    syncope is rare as a presenting symptom of syringomyelia. Three cases are described in which syncope brought the patient to hospital and in each case syringomyelia was subsequently diagnosed and treated. The suggestion is made that impaction of hindbrain hernia or the Chiari malformation may be a causative mechanism of loss of consciousness in such cases; the three examples presented all did well after posterior fossa surgery to decompress the hindbrain hernia.
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10/16. Chiari I "malformations"--an acquired disorder?

    Caudal herniation of the hindbrain, indistinguishable from the Chiari I deformity, may occur after the establishment of spinal subarachnoid shunts and become symptomatic years after the procedure. Examples are presented and others are cited from the literature. It is proposed that the force responsible for the displacement is the difference in pressure between the cranial and spinal compartments. On the basis of these observations and other considerations as well, a similar process, disproportionate absorption of cerebrospinal fluid from the spinal region, might account for the spontaneous form of the Chiari I deformity.
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