A Rare Case of Spinal Dysraphism with Partial Agenesis of the Corpus Callosum

Emmanuel S. Sakla, D.O.(1,2), Thiago Queiroz, D.O.(1,2) (1) Department of Physical Medicine and Rehabilitation, Larkin Community Hospital, S. Miami, FL

(2) College of Osteopathic Medicine, Nova Southeastern University, Fort Lauderdale, FL

Case Report ¤  27-year-old male complaining of low back pain

since 2009

¤ Diffuse low back and lower extremity pain with paresthesias, no specific dermatomal distribution

¤ Generalized weakness of lower extremities

¤  Recently began experiencing urinary retention

¤ Developed neurogenic claudication

¤ Decreased balance

MRI of the Lumbar Spine

¤ Conus medullaris tip at L4-5 level

¤ Thickening of the filum terminale

¤ Fibrolipomatous tissue vs. extradural arachnoid cyst

Partial Agenesis of Corpus Callosum

T1-weighted MRI of brain showing normal appearance of the corpus callosum11

Our patient’s MRI brain showing absent splenium

Treatment

¤ Diagnosed with Tethered Cord Syndrome

¤ Laminectomy of L5, S1, S2, and S3 ¤ Untethering of the spinal cord was unsuccessful

¤ Transferred to acute inpatient rehabilitation facility

Post-Operative Rehabilitation

¤ Post-operative back pain, muscle spasms

¤  Improvement in paresthesias and pain

¤ Symptoms of urinary retention improved. Post-void residual volume was minimal

¤ Discharged with modified independence of ADLs, requiring a single point cane to ambulate

http://www.chiarifund.org/tethered-cord-syndrome.html

Adult Tethered Cord Syndrome

¤ Occult Spinal Dysraphism

¤  Primarily a pediatric diagnosis

¤  Rarely, symptoms will not manifest until adulthood

¤  Incidence of closed spinal dysraphism is 0.05-5 in every 1000 births10

¤  Incidence of tethered cord syndrome in adults is unknown, but number of adults being diagnosed grows

¤  If symptomatic, early surgical treatment reduces progressive neurological symptoms

Adult Tethered Cord Syndrome

¤ Symptoms ¤ Pain ¤ Weakness ¤ Paresthesias ¤ Urological dysfunction

¤ Etiology: ¤ Thickened Filum Terminale ¤ Lipoma ¤ Lipomyelomeningocele ¤ Diastematomyelia ¤ Dermoid Cyst

Association with Agenesis of Corpus Callosum ¤  Incidence rate of 2-3% in the developmentally disabled

population7,10

¤ May be asymptomatic, but is known to accompany seizures, cognitive disorders, autism, epilepsy, neuropsychiatric disorders, developmental retardation

¤ Can be observed in association with spinal malformations ¤ Erol et al. (2013) described a 36.4% rate of callosal dysgenetic

patients with closed spinal dysraphism in pediatrics10

¤ The coexistence of dysgenesis of the corpus callosum and tethered cord syndrome in adults is rare and poorly documented

Conclusion

¤  27 year-old male with late onset of symptoms related to Tethered Cord Syndrome due to thickening of filum terminale

¤  Although surgery was unsuccessful in untethering the cord, post-operative results were favorable

¤  Asymptomatic partial agenesis of corpus callosum with no evidence of open neural tube defects

¤  Always ask about badder dysfunction in patients presenting with low back pain

References 1.  Amiri, Amir R., Kavitha Kanesalingam, Venkataramanan Srinivasan, and Rupert F. Price. "Adult Tethered Cord Syndrome Resembling Plantar Fasciitis and

Peripheral Neuropathy." BMJ Case Reports (2013) 2.  Kanda, Shotaro, Toru Akiyama, Hirotaka Chikuda, Takehiko Yamaguchi, and Kazuo Saita. "An Unusual Presentation of Adult Tethered Cord Syndrome

Associated with Severe Chest and Upper Back Pain." Case Reports in Orthopedics (2015) 3.  "Congenital Tethered Spinal Cord Syndrome in Adults." Neurosurgical Focus 10.1 (2001):. Medscape. 4.  Terai, T. "Adult Onset Tethered Cord Syndrome Associated with Intradural Dermoid Cyst. A Case Report." Spinal Cord 44 (2006): 260-62. 5.  Khan, Ali Nawaz. "Imaging in Spinal Dysraphism and Myelomeningocele." Ed. L. Gill Naul. (2014): Medscape. Web. 6.  Garg, Kanwaljeet, Vivek Tandon, Rajinder Kumar, Bhawani S. Sharma, and Ashok K. Mahapatra. "Management of Adult Tethered Cord Syndrome: Our

Experience and Review of Literature." Neurol India 62.2 (2014): 137-43.

7.  Erol, F. S. "Multiple Spinal Anomalies Associated with Dysgenesis of the Corpus Callosum." Ir J Med Sci 181 (2012): 385-88.

8.  Duz, Bulent, Selcuk Gocmen, Halil Ibrahim Secer, Seref Basal, and Engin Gonul. "Tethered Cord Syndrome in Adulthood." The Journal of Spinal Cord Medicine 31.3 (2008): 272-78.

9.  Hertzler II, Dean A., John J. DePowell, Charles B. Stevenson, and Francesco T. Mengano. "Tethered Cord Syndrome: A Reviewed of the Literature from Embryology to Adult Presentation." Neurosurg Focus 29.1 (2010): n. pag. Medscape.

10.  Erol, Fatih Serhat, Sait Ozturk, Bekir Akgun, Hakan Cakin, and Metin Kaplan. "How Innocent Is Corpus Callosum Dysgenesis?" Pediatric Neurosurgery (2013)

11.  Aribandi, Manohar, and James G. Smirniotopoulos. "Imaging in Agenesis of the Corpus Callosum." Ed. Bernard Coombs. (2015) Medscape. http://emedicine.medscape.com/article/407730-overview