Neuropediatrics 2013; 44 - PS23_1202
DOI: 10.1055/s-0033-1337890

Rigorous investigation of opsoclonus-myoclonus-syndrome associated neuroblastoma: three case reports

S Prager-Puntigam 1, M Brunner-Krainz 1, U Gruber-Sedlmayr 1, A Kortschak 1, A Schwerin-Nagel 1, M Müller 1, M Tappauf 1, S Gallistl 1, C Urban 1, M Riccabona 2, T Schwarz 3, A Saxena 4
  • 1Univ.Klinik für Kinder- und Jugendheilkunde, Graz, Austria
  • 2Univ. Klinik für Kinderradiologie, Graz, Austria
  • 3Abteilung für Nuklearmedizin, Graz, Austria
  • 4Univ. Klinik für Kinderchirurgie, Graz, Austria

Introduction: Opsoclonus-myoclonus-syndrome (OMS) is a rare neurological disorder with onset in early childhood, often associated with occult neuroblastoma as a paraneoplastic syndrome. The main symptoms are ataxia, myoclonus, and opsoclonus. Retrospective analyses showed a prevalence of neuroblastoma in OMS of 8% in 1970 and 43% in 2000. The increase in detection rate is most likely attributable to the advance in imaging techniques (MRI and MIBG scintigraphy).

Case 1: A 16-month old girl presented with nystagmus and ataxia. Within a week she was unable to walk, she suffered from insomnia and presented with opsoclonus and myoclonus. MRI of the brain, cerebrospinal fluid (CSF), EEG, chest X-ray, abdominal ultrasound, urine catecholamine metabolites, and neuron specific enolase revealed no abnormalities. The MRI scan revealed a para pelvic lesion with a size of 2 × 0.5 cm, dorsomedial of the left kidney. The MIBG scintigraphy showed tracer uptake in the left adrenal gland.

Case 2: A 13-months old boy presented with torticollis, opsoclonus, and ataxia. The MRI of the brain showed no abnormalities. Urine catecholamines and neuron specific enolase were elevated. Chest X-ray, ultrasound, and MIBG scintigraphy revealed no abnormalities. The MRI scan showed a presacral/retrovesical lesion with a size of 3.1 × 2.4 × 3.3 cm, paramedian in the left.

Case 3: A 12-months old boy present with ataxia. MRI of the brain, CSF and EEG showed no abnormalities. One month later opsoclonus and myoclonus were diagnosed. Urine catecholamine metabolites were borderline elevated. Chest X-ray and abdominal ultrasound revealed no abnormalities. The MIBG scintigraphy showed an abnormal uptake in the left adrenal gland. The MRI revealed a tumor with a size of 3.4 × 1 × 2 cm in the left adrenal gland.

Conclusion: The clinical diagnosis of OMS should be followed by a rigorous investigation of an associated occult neuroblastoma. Both, MRI and MIBG scintigraphy should be performed to reveal the presence of a neuroblastoma. Probably the prevalence of OMS associated neuroblastoma is higher than previously thought.