(Kiosk 3) A Case of Spina Bifida, Chiari Malformation, and Agenesis of Corpus Callosum

Case Diagnosis: Spina Bifida, Chiari Malformation, and Agenesis of Corpus Callosum.

Case Description or Program Description: A 27-year-old female with a history of severe dextroscoliosis, cerebral palsy, neurogenic bladder, agenesis of corpus collosum with Chiari malformation status post ventroperitoneal shunt presented to neuromuscular clinic to evaluate chronic back pain.

Setting: Tertiary-care setting

Assessment/Results: She had recently been admitted to the hospital for cellulitis and chronic sacral wound discharge that was treated with oral antibiotics. Patient was wheelchair-bound at baseline and had recently undergone wheelchair adjustment to offload her spinal deformity. Patient was referred to orthopedics for potential surgical intervention, with recommendations of no acute intervention at the time, images of the thoracic spine to assess for soft-tissue coverage of spinal deformity and rule out impending wound, and discussed the need for possible debulking and corpectomy in the future with neurosurgery and plastic surgery.

Discussion (relevance): Neural tube defects are common congenital anomalies and cause chronic disability for thousands of people in the US. Myelomeningocele (spina bifida) is the most common neural tube defect, characterized by a cleft in the vertebral column that exposes the meninges and spinal cord, leading to difficulty ambulating, bladder and bowel dysfunction, and cognitive impairments. Chiari malformations are a diverse set of conditions in which the cerebellum and sometimes the lower medulla extends into the spinal canal, causing pressure and blockages. This can lead to a range of symptoms, including headaches, dizziness, muscle weakness, and numbness or tingling in the extremities. Agenesis of the corpus callosum is a congenital disorder in which the corpus callosum, the major commissural pathway connecting the two cerebral hemispheres, fails to develop fully or at all. This can lead to a wide range of neurodevelopmental and behavioral impairments, including deficits in cognitive, motor, and social functioning. Treatment options include surgery, physical therapy, medications, and assistive devices, depending on the specific symptoms and severity of the condition.

Conclusions: This case study emphasizes the importance of a multidisciplinary team of surgeons, physiatrists, and orthopedics when treating patients with multiple congenital disorders such as spina bifida, Chiari malformation, and corpus callosum agenesis. Timely coordination of specialists can help improve quality of life.