Rare case of Neuroblastoma presenting with torticollis- A report

Neuroblastoma is a common childhood cancer, typically presenting with various symptoms related to its primary location. Recently a rare case report was published in the Italian Journal Of Pediatrics by Carraro C. and colleagues. This case report highlights a rare presentation of neuroblastoma in a pediatric patient who initially showed signs of torticollis, an unusual clinical feature of the disease.

Neuroblastoma is a pediatric malignancy primarily originating from neural crest cells, typically presenting as an abdominal mass. However, its clinical presentation can vary widely, posing diagnostic challenges. This case underscores the importance of considering neuroblastoma in the differential diagnosis of unusual symptoms.

A 3-year-old girl was admitted to the Emergency Department with a fever and neck stiffness of two days' duration. She had a history of recurrent right hip pain and limping for three weeks, which persisted after anti-inflammatory treatment. On examination, she displayed neck stiffness and restricted right hip movement. Blood tests revealed mild anaemia and elevated inflammatory markers.

A hip ultrasound detected joint effusion and synovial thickening, while an abdominal ultrasound was unremarkable. Subsequent cervical spine X-ray was negative, but a pelvic X-ray uncovered an osteolytic lesion near the right acetabulum and cortical rarefaction of the left femoral neck. No spinal lesions were identified.

Given the presence of multiple bone pains, solid tumour metastasis and chronic recurrent multifocal osteomyelitis (CRMO) were suspected. Intravenous antibiotics were initiated. However, rising Neuron-Specific Enolase (NSE) levels and a slight increase in LDH prompted a neck and abdominal CT-scan.

Findings:

The CT-scan unveiled a predominantly hypodense surrenal mass with eccentric calcification. Images of the spine showed extensive involvement of vertebral metamers. These findings strongly suggested neuroblastoma. Elevated vanillylmandelic acid (VMA) and homovanillic acid (HVA) levels in a 24-hour urine collection confirmed the suspicion. MIBG scintigraphy revealed adrenal uptake and widespread skeletal involvement.

Subsequent bone marrow aspiration confirmed neoplastic infiltration. N-MYC oncogene amplification was detected, confirming stage 4 neuroblastoma. The patient began high-risk neuroblastoma treatment and achieved complete remission after chemotherapy.

This case report underscores the need for clinicians to consider neuroblastoma as a potential underlying cause of unexplained torticollis in pediatric patients. Neuroblastoma's diverse clinical manifestations can lead to diagnostic challenges. Timely diagnosis and treatment are crucial, as this malignancy can range from spontaneous regression to aggressive disease. Paediatricians play a vital role in recognizing the diverse clinical presentations of neuroblastoma.

Reference:

Carraro, C., Rabusin, M., Murru, F. M., Ammar, L., Barbi, E., Amaddeo, A., & Cozzi, G. Neck stiffness and bone osteolytic lesion in a 3-years old child: a case report. Italian Journal of Pediatrics,2023;49(1). https://doi.org/10.1186/s13052-023-01534-4