Atypical presentation of opsoclonus-myoclonus-ataxia syndrome in a newborn: a case report

Case presentation: This is a newborn patient, male. Vaginal delivery with no complications, preterm birth. The initial physical examination of the newborn (NB) identified a hard and painful mass in the left flank. The patient was transferred to Neonatal Intensive Care Unit (NICU) for extended workup and monitoring. In the first neurological examination, opsoclonus, myoclonus and ataxia of limbs and trunk were identified. During hospitalization, the NB developed systemic arterial hypertension. In Magnetic Resonance (MRI) an expansive formation was identified in upper and middle thirds of the left kidney. The newborn underwent total left nephrectomy and is being followed up by pediatric neonatology, neurology and oncology outpatients clinics.

Discussion: Opsoclonus-Myoclonus-Ataxia Syndrome, or Kinsbourne Syndrome, is a rare neurological pathology, prevalent in children, caused by autoimmune reactions and/or inflammation in the cerebellum or brain. Clinically, there is muscle incoordination of the trunk (ataxia), rapid eye movements (opsoclonus) and irregular spasms (myoclonus). Kinsbourne Syndrome (KS) is a neuroimmune pathology frequently associated with post-infectious or paraneoplastic conditions. Post-infectious KS is associated with infections by Enterovirus, Epstein-Barr, Chikungunya, Flavivirus, among others. Neoplastic KS requires screening for primary tumors, especially neuroblastomas. Often noticed before cancer suspicion, the case described is an early and atypical presentation of KS. After excluding infectious causes, patients with KS should be evaluated with radiologic screening of thorax, abdomen and pelvis. The treatment of neurological symptoms of KS includes immunoglobulin and/or corticosteroids. In paraneoplastics cases, the immunomodulators are complemented with resection of primary tumor.

Final comments: In children with ataxia, opsoclonus and myoclonus symptoms it is mandatory to investigate possible causes for Kinsbourne Syndrome, such as infectious or neoplastic origin. The neurological and oncologic prognosis of patients is affected by time of diagnosis and treatment of primary cause.

 

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No conflict of interest has been declared by the author(s).

Publication History

Article published online:
18 September 2023