ARNOLD-CHIARI MALFORMATION TYPE 1 WITH SYRINGOMYELIA, KYPHOSCOLIOSIS, AND CAFÉ-AU-LAIT SPOTS
Abstract
We present a case report of a 39-year old woman with Arnold-Chiari malformation type 1 with syringomyelia, kyphoscoliosis, and café-au-lait spots. The first complaints started 2 years ago and included paresthesias/numbness and diminished temperature sensation of the right arm, followed by muscle weakness. There has also been a remitting-relapsing pain in the right arm recently. The neurologic examination revealed a syndrome of cervical intumescence impairment with C8 dermatome hypesthesia, temperature anesthesia for the right arm, a lower motor neuron paresis in the distal part of the upper extremities (predominantly for the right arm), spastic muscle tone of the lower extremities, mild right leg weakness, positive Babinski sign bilaterally. Several café-au-lait spots in the trunk were found. MRI visualized kyphoscoliotic deformation of the cervicothoracic spine, a homogenous intraspinal lesion from C2 to Th9 level, hypointense on T1 and hyperintense on T2 (syrinx), and a prolapsed left cerebellar tonsil through the foramen magnum. The patient was unsuccessfully treated with medications. The case is of interest with the extremely rare combination of the abovementioned clinical and neuroimaging manifestations, the late onset of sensory complaints, lack of family history, headache, and other congenital abnormalities, as well as the late diagnosis confirmation. We consider this combination to be more than coincidental and a rare variant of Chiari type 1 malformation. The relevant literature has been reviewed
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References
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