What is the appropriate management and treatment for a pediatric or young adult patient with a complex medical history, including potential spinal abnormalities such as spina bifida, diagnosed with Diastomyelia?

Diastematomyelia Management

Immediate Diagnostic Approach

All pediatric and young adult patients with suspected or confirmed diastematomyelia require complete spine MRI as the primary diagnostic modality to evaluate the split cord malformation, assess for tethered cord, and identify associated intraspinal anomalies. 1

Initial Imaging Strategy

• Obtain complete spine MRI with and without contrast to visualize the longitudinal splitting of the spinal cord, characterize the bony/cartilaginous/fibrous septum, identify the type (I vs II), and detect associated anomalies including tethered cord, syringohydromyelia, and filar lipoma 1

• Plain radiographs (PA and lateral) of the complete spine should be obtained to identify characteristic findings including widening of interpedicle distance, kyphoscoliosis, vertebral anomalies (hemivertebrae), and bony spurs 1, 2

• CT spine with multiplanar reconstruction is indicated for presurgical planning to precisely visualize the osseous septum in type I malformations and characterize bony anatomy for instrumentation planning 1

Critical Clinical Assessment Points

• Perform detailed neurological examination focusing on lower extremity motor strength (proximal and distal), sensory deficits in dermatomal distribution, deep tendon reflexes (hyperreflexia suggests upper motor neuron involvement), and pathological reflexes (Babinski sign) 1, 3

• Assess for bowel and bladder dysfunction including urinary incontinence, retention, constipation, and fecal incontinence, as these indicate significant spinal cord involvement requiring urgent intervention 1, 4

• Examine the overlying skin carefully for cutaneous markers including midline hairy patches, dimples (especially if >2.5 cm from anus), vascular malformations (hemangiomas), congenital pigmented nevi, or subcutaneous masses 1, 2

• Document any progressive symptoms including worsening weakness, new-onset pain, gait deterioration, or development of scoliosis, as progression mandates surgical intervention 2, 5

Treatment Algorithm Based on Type and Symptoms

Type I Diastematomyelia (Double Dural Tubes with Bony/Cartilaginous Septum)

Surgical intervention is mandatory for all symptomatic type I diastematomyelia patients and strongly recommended for asymptomatic patients to prevent neurological deterioration. 2, 5

Surgical Indications (Type I):

• Progressive neurological deterioration (worsening weakness, sensory loss, or pain) 2, 5
• Presence of tethered cord on MRI with or without symptoms 5
• Bowel or bladder dysfunction of any degree 1
• Characteristic cutaneous changes with radiographic confirmation 1, 2
• Even asymptomatic type I cases should undergo prophylactic surgery, as 96 of 123 surgical patients showed clinical improvement and none worsened during long-term follow-up 5

Surgical Procedure:

• Complete excision of the bony/cartilaginous septum with intradural exploration 5
• Release of tethered filum terminale if present during the same procedure 5
• Duraplasty to reconstruct the single dural tube after septum removal 5

Type II Diastematomyelia (Single Dural Tube with Fibrous Septum)

Conservative management with close observation is recommended for type II diastematomyelia, as surgical intervention rarely provides functional improvement. 5

Conservative Management Strategy:

• Serial neurological examinations every 3-6 months to detect any progression 5
• Repeat MRI annually for the first 2-3 years, then every 2 years until skeletal maturity 1
• Physical therapy to maintain strength and prevent contractures 1
• Surgical intervention only if progressive neurological deterioration develops despite conservative measures 5

Associated Condition Management

Congenital Scoliosis Screening

All diastematomyelia patients require evaluation for congenital scoliosis, as the incidence of intraspinal anomalies reaches 43% in patients with vertebral anomalies. 1

• Obtain standing PA and lateral spine radiographs to measure Cobb angle and identify vertebral anomalies (hemivertebrae, unilateral bars) 1
• MRI is mandatory before any scoliosis surgery because physical examination has only 62% accuracy for detecting intraspinal anomalies, and a negative neurological exam does not predict normal MRI 1
• Serial radiographs every 6 months if scoliosis is present to monitor progression 1

Spina Bifida Co-Management

Patients with diastematomyelia and concurrent spina bifida require proactive urological management starting in the neonatal period. 4

• Initiate clean intermittent catheterization (CIC) every 6 hours immediately after back closure or upon diagnosis 4
• Obtain renal and bladder ultrasound within the first week of life 4
• Perform videourodynamics or cystometrogram at 3 months, then annually at ages 1,2, and 3 years 4
• Monitor blood pressure at every visit as renal complications are common 4, 6

Tethered Cord Syndrome

Surgical untethering is indicated for any patient with bowel/bladder dysfunction, lower limb upper motor neuron signs, or progressive neurological symptoms, especially when sacral dimple is present. 1

• Lumbar spine MRI is diagnostic and shows low-lying conus (below L2-L3), thickened filum terminale (>2mm), or posterior tethering 1
• Surgical release should be performed before irreversible neurological damage occurs 1

Surgical Outcomes and Complications

Expected Outcomes

• Type I diastematomyelia: 96 of 123 surgical patients (78%) showed clinical improvement with no worsening during 2-20 year follow-up 5
• Type II diastematomyelia: 9 surgical patients remained stable without improvement; 24 nonsurgical patients neither improved nor worsened 5
• Mortality rate: One death reported in 156 patients (0.6%) 5

Potential Complications

• Cerebrospinal fluid leakage (2/156 patients, 1.3%) managed with bed rest, oversewing, or lumbar drain 5
• Temporary neurological deterioration (4/156 patients, 2.6%) typically resolves within weeks 5
• Epidural hematoma (1/156 patients, 0.6%) requiring evacuation 5
• Worsening after inadvertent intramedullary injection during epidural procedures—avoid lumbar procedures without imaging confirmation of anatomy 7

Critical Pitfalls to Avoid

• Never perform epidural injections or spinal anesthesia without prior imaging in patients with known or suspected spinal dysraphism, as intramedullary injection can cause catastrophic neurological deterioration 7
• Do not rely on normal neurological examination to exclude intraspinal anomalies in congenital scoliosis patients—MRI is mandatory regardless of exam findings 1
• Avoid delaying surgery in symptomatic type I diastematomyelia, as progressive neurological deficits may become irreversible 2, 5
• Do not assume adult presentation is benign—diastematomyelia can remain asymptomatic until adulthood then rapidly deteriorate 3, 7
• Never operate on type II diastematomyelia unless clear progression is documented, as surgery provides minimal benefit 5

Long-Term Surveillance

• Lifelong neurological follow-up every 6-12 months for all patients, surgical and nonsurgical 5
• Annual spine radiographs if scoliosis is present until skeletal maturity 1
• Repeat MRI if new symptoms develop or existing symptoms worsen 5
• Urological surveillance per spina bifida guidelines if applicable, with annual renal ultrasound and urodynamics 4