Differential Diagnosis for Lower Back and Buttock Pain in a 14-Year-Old Boy
- Single Most Likely Diagnosis
- Muscular dystrophy (specifically, Becker muscular dystrophy or limb-girdle muscular dystrophy): This diagnosis is considered most likely due to the progressive nature of the symptoms (weakness and thinning of the lower extremities, weak ankle dorsiflexion), the presence of mild scoliosis, and the pattern of pain that worsens with activity and improves with rest. The absence of a clear traumatic event and the diffuse nature of the pain also support this diagnosis.
- Other Likely Diagnoses
- Spondylolisthesis or spondylolysis: These conditions could explain the lower back pain that radiates down the legs, especially with activity. The presence of mild scoliosis might also be related to or exacerbated by these spinal abnormalities.
- Peripheral neuropathy: Given the weak ankle dorsiflexion and reduced deep tendon reflexes in the lower extremities, a peripheral neuropathy could be a contributing factor to the patient's symptoms.
- Do Not Miss Diagnoses
- Spinal cord tumor or cauda equina syndrome: Although less likely, these conditions are critical to rule out due to their potential for severe and irreversible neurological damage if not promptly treated. The presence of radiating pain, weakness, and altered reflexes necessitates consideration of these diagnoses.
- Infection (e.g., osteomyelitis, discitis) or inflammation (e.g., juvenile idiopathic arthritis): These conditions can cause back pain, fever, and other systemic symptoms. While the patient's vital signs are normal, the chronic nature of the pain and the absence of trauma warrant consideration of infectious or inflammatory causes.
- Rare Diagnoses
- Neurofibromatosis type 1 (NF1): The presence of a subcutaneous lipoma and mild scoliosis might suggest NF1, especially if other diagnostic criteria are met (e.g., café-au-lait spots, axillary or inguinal freckling). However, the primary symptoms do not strongly point towards NF1.
- Ehlers-Danlos syndrome: This condition could be considered due to the presence of a subcutaneous lipoma and mild scoliosis, along with potential joint hypermobility. However, the primary complaint of lower back and buttock pain does not typically align with the common presentations of Ehlers-Danlos syndrome.