Severe onset of inflammatory myositis in a child: think to paraneoplastic myositis.

Abstract

BACKGROUND:

Juvenile idiopathic inflammatory myopathies (JIIMs) are a group of heterogenous, acquired, autoimmune disorders that affect the muscle. While the association between IIMs and malignancy has been widely reported in adults, cancer-associated myositis (CAM) is rare in children, so that routine malignancy screening is not generally performed. This report shows a case of severe CAM in a child.

CASE PRESENTATION:

An 11-years-old girl presented with worsening dyspnea after a 3-weeks history of progressive proximal weakness, myalgia, dysphagia, and weight loss. Her past history was remarkable for a type I Arnold-Chiari malformation associated with an anterior sacral meningocele. Physical examination showed severe hypotony and hypotrophy. Pulse oximetry and blood test showed a type II respiratory failure (SpO2 88%, pCO2 68 mmHg) and increased muscle enzyme levels (CPK 8479 U/L, AST 715 U/L, ALT 383 U/L, LDH 1795 U/L). The patient needed invasive mechanical ventilation. Inflammatory myositis was considered and treatment with intravenous methylprednisolone (30 mg/Kg/day for 3 days followed by 2 mg/Kg/day) and IVIG (1 g/kg/day for 2 days) was started. Muscle biopsy showed endomysial and perimysial necrosis and inflammation. The presence of serum anti-TIF1-γ antibody positivity led to a malignancy screening. Whole-body MRI showed a mature teratoma underneath sacral meningocele and both lesions were surgically removed. Given the histological and clinical severity of the myopathy, mycophenolate (500 mg twice a day) and rituximab (360 mg/m2, 4 weekly infusions) were added. Due to extreme muscular wasting, severe malnutrition and intolerance to enteral feeding the patient needed a transient tracheostomy and parenteral nutrition, followed by physiotherapy, speech therapy and nocturnal non-invasive ventilation. A complete remission was achieved 3 months after.

CONCLUSIONS:

Among cancer-associated autoantibodies (CAAs) in adult patients, anti-TIF1-γ carries the highest risk of CAM, which recognizes with a high likelihood a paraneoplastic pathogenesis. In children, anti-TIF1-γ antibody has been associated with severe cutaneous disease, lipodystrophy, and chronic disease course, but not with CAM, which is overall rare in younger patients. Severe onset of a JIIM, especially if anti-TIF1-γ antibody positive, should prompt suspect of a CAM and lead to a screening for malignancy.

• Authors: Simone Benvenuto, Giulia Gortani, Rossana Bussani, Federico Poropat, Flora Maria Murru, Marco Carrozzi, Alberto Tommasini, Andrea Taddio
• Journal: Italian journal of pediatrics (Ital J Pediatr) Vol. 47 Issue 1 Pg. 146 (Jul 01 2021) ISSN: 1824-7288 [Electronic] England
• PMID: 34210321 (Publication Type: Case Reports, Journal Article)

Chemical References

• Biomarkers, Tumor

Topics

• Biomarkers, Tumor (blood)
• Child
• Combined Modality Therapy
• Diagnosis, Differential
• Drug Therapy, Combination
• Female
• Humans
• Magnetic Resonance Imaging
• Meningocele (diagnostic imaging, surgery)
• Myositis (diagnosis, therapy)
• Noninvasive Ventilation
• Parenteral Nutrition
• Physical Therapy Modalities
• Teratoma (diagnostic imaging, surgery)
• Tracheostomy