ARNOLD-CHIARI MALFORMATION TYPE 1 WITH SYRINGOMYELIA, KYPHOSCOLIOSIS, AND CAFÉ-AU-LAIT SPOTS
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
2. Williams H. A unifying hypothesis for hydrocephalus, Chiari malformation, syringomyelia, anencephaly, and spina bifida. Cerebrospinal Fluid Res., 5,2008, 7.
3. Williams B. Chronic herniation of the hindbrain. Annals of the Royal College of Surgeons of England. 63, 1981, 9-17.
4. Strahle J, Smith BW, Martinez M, Bapuraj JR, Muraszko KM, Garton HJ, Maher CO. The association between Chiari malformation Type I, spinal syrinx, and scoliosis. Neurosurg Pediatr., 15, 2015; 607-611.
5. Reinker KA, Stevenson DA, Tsung A. Orthopaedic conditions in Ras/MAPK related disorders. J Pediatr Orthop. 31, 2011, 599-605.
6. Santoro C, Pacileo G, Limongelli G, Scianguetta S, Giugliano T, Piluso G, Ragione DF, Cirillo M, Mirone G, Perrotta S. LEOPARD syndrome: clinical dilemmas in the differential diagnosis of RASopathies. BMC Med Genet. 15, 2014, 44.
7. Beier AD, Barrett RJ, Burke K, Kole B, Soo TM. Leopard syndrome and Chiari type I malformation: a case report and review of the literature. Neurologist. 15,2009, 37-39.
8. Agha A, Hashimoto K. Multiple lentigines (Leopard) syndromes with Chiari I malformation. J Dermatol. 15, 1995, 520-523.
9. Tubbs RS, Rutledge SL, Kosentka A, Bartolucci AA, Oakes WJ. Chiari I malformation and neurofibromatosis type 1. Pediatr Neurol. 30, 2004, 278- 280.
10. Kamgarpour A, Moradi E, Showraki A, Derakhshan N, Jamali M. Chiari 0 Malformation With Multiple Café Au Lait Spots. Neurosurgery. 26, 2016, 69-70.
11. Greenlee J, Donovan K, Hsan D, Menezes A. Chiari I malformation in the very young child: The spectrum of presentations and experience in 31children under age 6 years. Pediatrics. 110, 2002, 1212-1221.
12. Park J, Gleason P, Madsden J, Goumnerova L, Scott R. Presentation and management of Chiari I malformation in children. Pediatr Neurosurg. 26, 1997, 190-196.
13. Anderson R, Emerson R, Dowling K, Feldstein N. Improvement in brainstem auditory evoked potentials after suboccipital decompression in patients with Chiari I malformation. J Neurosurg. 98, 2003, 459-464.
14. Milhorat TH, Chou M, Trinidad E, Kula RW, Mandell M, Wolpert C, Speer MC. Chiari, I malformation redefined: Clinical and radiographic findings for 364 symptomatic patients. Neurosurgery. 44, 1999, 1005-1017.