Arnold-Chiari malformation with syringomyelia in an elderly woman. (1/185)

PRESENTATION: A 76-year-old woman, complaining of leg pain and unsteady gait for 3 years, presented with a spastic paraparetic gait, severe spasticity and touch, thermal and pain sensory loss limited to arms, lower thorax and upper abdomen. Brain and spinal cord magnetic resonance imaging showed a large loculated syrinx. Cerebellar tonsillar herniation into the foramen magnum was also seen (Arnold-Chiari malformation, type I). OUTCOME: The patient had successful cervico-spinal surgical decompression which resulted in marked reduction in hypertonia and weakness, normal gait and normal joint movement at 6 months. CONCLUSION: This unusual, late clinical presentation of a congenital disease underlines the importance of a comprehensive diagnostic work-up in the elderly patients with complex neurological signs.  (+info)

Coexistent holoprosencephaly and Chiari II malformation. (2/185)

Chiari II malformations and holoprosencephaly have been considered to be brain malformations that differ with respect to teratogenic insult, embryologic mechanism, and morphology. We herein describe coexistent Chiari II malformation and holoprosencephaly that occurred in a viable infant. A review of the literature regarding Chiari II malformations and holoprosencephaly suggests that a disturbance to the mesenchyme in early embryologic life may be the cause of both malformations.  (+info)

Phase-contrast MR imaging of the cervical CSF and spinal cord: volumetric motion analysis in patients with Chiari I malformation. (3/185)

BACKGROUND AND PURPOSE: Most previous MR studies of the dynamics of Chiari I malformation have been confined to sagittal images and operator-dependent measurement points in the midline. To obtain a deeper insight into the pathophysiology of the Chiari I malformation, we performed a prospective study using axial slices at the level of C2 to analyze volumetric motion data of the spinal cord and CSF over the whole cross-sectional area. METHODS: Eighteen patients with Chiari I malformation and 18 healthy control subjects underwent cardiac-gated phase-contrast imaging. Cross-sectional area measurements and volumetric flow/motion data calculations were made for the following compartments: the entire intradural space, the spinal cord, and the anterior and posterior subarachnoid space. RESULTS: The most striking feature was an increased early systolic caudal and diastolic cranial motion of the spinal cord in the patients. CSF pulsations in the anterior subarachnoid space were unchanged at systole but showed an impaired diastolic upward flow. In the posterior compartment, the CSF systole was slightly shortened, with an impairment of diastolic upward flow. Fourteen of the 18 patients had associated syringeal cavities. This subgroup showed an increased systolic downward displacement of the cord as compared with patients without a syrinx. CONCLUSION: Obstruction of the foramen magnum in patients with Chiari I malformation causes an abrupt systolic downward displacement of the spinal cord and impairs the recoil of CSF during diastole.  (+info)

Congenital malformations after intracytoplasmic injection of spermatids. (4/185)

Spermatid microinjection into oocytes was applied in cases of intracytoplasmic sperm injection (ICSI)/testicular sperm extraction (TESE) where no spermatozoa could be found in numerous testicular samples. Although several pregnancies were obtained with this procedure, serious concerns remain regarding its safety. Although the relevance of the injection of spermatids is by no means certain, we wish to report that from four pregnancies obtained after injection of elongated spermatids, two cases of major malformation resulted.  (+info)

Chiari malformation and syringomyelia in monozygotic twins: birth injury as a possible cause of syringomyelia--case report. (5/185)

A 26-year-old female, the elder of monozygotic twins, presented with slow progressive numbness and pain in her left arm. Magnetic resonance (MR) imaging showed syringomyelia with Chiari malformation. The patient's birth had been difficult with prolonged delivery time, breech delivery, and neonatal asphyxia. MR imaging of the patient's twin sister showed mild tonsillar ectopia, but absence of syringomyelia. This younger sister was born without problems. The patient underwent syringosubarachnoid shunt at the C5-6 level. The syrinx was collapsed promptly, and her symptoms disappeared. This case of syringomyelia with Chiari malformation in one of twins suggests that birth injury is likely to be a cause of the pathogenesis of syringomyelia.  (+info)

Arnold-Chiari malformation and nystagmus of skew. (6/185)

The Arnold-Chiari malfomation is typically associated with downbeat nystagmus. Eye movement recordings in two patients with Arnold-Chiari malfomation type 1 showed, in addition to downbeat and gaze evoked nystagmus, intermittent nystagmus of skew. To date this finding has not been reported in association with Arnold-Chiari malfomation. Nystagmus of skew should raise the suspicion of Arnold-Chiari malfomation and prompt sagittal head MRI examination.  (+info)

Isolated Horner's syndrome and syringomyelia. (7/185)

Although syringomyelia has been associated with Horner's syndrome, it is typically associated with other neurological findings such as upper limb weakness or numbness. A patient is described who had an isolated Horner's syndrome as the only manifestation of syringomyelia. A 76 year old woman was discovered to have right upper lid ptosis and right pupillary miosis. Neurological examination was unremarkable, and pharmacological testing was consistent with localisation of the lesion to a first or second order sympathetic neuron. Neuroimaging disclosed a Chiari I malformation with a syrinx extending to the C2 to C4 level. An isolated Horner's syndrome may be the presenting manifestation of syringomyelia.  (+info)

Can hindbrain decompression for syringomyelia lead to regression of scoliosis? (8/185)

Scoliosis in childhood develops secondary to syringomyelia in some children. The existing literature does not provide a clear answer as to whether surgical treatment of the syrinx can allow subsequent improvement of the spinal deformity, thus preventing the need for scoliosis surgery. This series comprised 16 patients with syringomyelia who presented with significant scoliosis in the absence of major neurological deficit. All underwent a hindbrain decompression, and follow-up ranged from 1 to 6 years (mean 2.5 years). Subsequent deformity surgery was necessary in eight cases, but the scoliosis was seen to improve or arrest its progression in six (37.5%). Improvement was found to be statistically more likely in children of younger age at the time of syrinx surgery and in those with left thoracic curves. Improvement occurred in 71.4% of those under the age of 10 at the time of hindbrain decompression.  (+info)