What is the diagnosis and management of LUMBAR (Lower body, Umbilical, Medial leg, Buttock, and genital area) syndrome in a young adult with a family history of the condition?

LUMBAR Syndrome: Diagnosis and Management

LUMBAR syndrome is a rare neurocutaneous disorder requiring immediate recognition of segmental infantile hemangiomas (IH) in the lumbosacral, sacrococcygeal, or pelvic regions, followed by systematic screening for associated urogenital, spinal, bony, anorectal, arterial, and renal anomalies to prevent life-altering complications including myelopathy and renal failure. 1

Diagnostic Criteria

The diagnosis requires a segmental or patterned infantile hemangioma of the lumbosacral, sacrococcygeal, or pelvic cutaneous regions PLUS at least one additional criterion from the urogenital, spinal, bony, anorectal, arterial, or renal organ systems. 1

Key Clinical Features to Identify

The acronym LUMBAR represents:

• Lower body hemangiomas with segmental distribution (not focal) 2
• Urogenital anomalies and Ulceration (ulceration occurs in up to 16% of IH cases, with higher risk in segmental lesions) 2
• Myelopathy (spinal cord malformations, particularly spinal dysraphism and tethered cord) 2, 3
• Bony deformities of the spine and lower extremities 2
• Anorectal malformations 2
• Arterial anomalies 2
• Renal anomalies (including absent kidney) 2, 3

Physical Examination Findings

Look specifically for:

• Extensive segmental hemangiomas covering the entire leg, perineum, or gluteal region with "minimal growth" morphology 2, 3
• Asymmetric legs with limb atrophy on the affected side 3
• Deviated intergluteal cleft 3
• Asymmetric genitalia (e.g., asymmetrical labia) 3
• Sacrococcygeal dimple or other cutaneous markers in the lumbosacral region 2, 3
• Hypertrichosis overlying the spine (associated with two-thirds of type I split cord malformations) 2

Imaging and Diagnostic Workup

Immediate Imaging Requirements

MRI of the spine is the gold standard and must be obtained to evaluate for myelopathy, spinal dysraphism, tethered cord syndrome, and lipomyelomeningocele. 2, 3

• MRI is preferred over ultrasound for assessing extent of spinal involvement and potential myelopathy 2
• MRA may be warranted for infants with extensive lower limb involvement to assess for arterial anomalies 2

Additional Required Imaging

• Renal and bladder ultrasound to screen for renal anomalies (including absent kidney) and urogenital abnormalities 3, 1
• Ultrasound of the hemangioma can be used as initial imaging if diagnosis is uncertain, showing high-flow parenchymal mass with shunting 2

Management Strategy

Hemangioma Treatment

β-blocker therapy with propranolol (Hemangeol) is the first-line treatment for infantile hemangiomas, replacing systemic corticosteroids as the previous gold standard. 2

The mechanism includes:

• Vasoconstriction 2
• Inhibition of angiogenesis 2
• Downregulation of matrix metalloproteinases and interleukin-6 2

Indications for Urgent Intervention

Treatment is indicated for: 2

• Emergency treatment of life-threatening complications
• Urgent treatment of existing or imminent functional impairment, pain, or bleeding
• Ulceration (most common complication, occurring in 16% of patients, with higher risk in segmental IH and perineal/perianal locations) 2
• Elective treatment to reduce likelihood of permanent disfigurement

Spinal Cord Management

Myelopathies, particularly spinal dysraphism, are the most common extracutaneous anomaly in LUMBAR syndrome. 2

• Surgical decompression is indicated for tethered cord syndrome causing progressive neurological deficits 4
• Continued surveillance throughout life is necessary to monitor for tethered cord syndrome 4

Urological Management

Proactive urological management with regular urodynamic testing is essential to detect bladder dysfunction before upper tract changes develop, as chronic kidney disease represents a serious source of morbidity and mortality. 4

• Urodynamic testing (videourodynamics or cystometrogram with voiding cystourethrogram) should be performed regularly 4
• Clean intermittent catheterization should be initiated before development of upper tract changes 4
• Annual blood pressure monitoring is required, as approximately 26% of patients with spina bifida develop renal failure 4

Arterial Monitoring

Although arterial anomalies occur in a minority of patients, the true incidence and long-term risks remain unknown, warranting specific imaging for extensive lower limb involvement. 2

Critical Pitfalls to Avoid

• Do not dismiss extensive segmental hemangiomas in the lumbosacral region as isolated cutaneous findings without comprehensive screening for associated anomalies 2, 1
• Do not delay MRI of the spine when segmental hemangiomas are identified in the lumbosacral, sacrococcygeal, or pelvic regions 2
• Do not use expectant management for urological issues—proactive management with early urodynamic testing prevents renal damage and reduces need for bladder augmentation surgery 4
• Do not assume normal renal ultrasound excludes all anomalies—comprehensive evaluation of all organ systems is required per diagnostic criteria 1
• Recognize that LUMBAR syndrome is the "lower half of the body" variant of PHACE syndrome, with similar regional correlation between cutaneous findings and underlying anomalies 2

Family History Considerations

In a young adult with family history, personally examine family members for features including segmental hemangiomas, spinal anomalies, and urogenital abnormalities, as these may be clinically silent. 5

• Genetic counseling may be appropriate, though no specific etiology has been identified for LUMBAR syndrome 6
• Neural tube defect prevention with folic acid supplementation (400 μg daily for women without prior NTD history) should be discussed for family planning, as folic acid reduces NTD incidence by 40-80% 4