1- Department of Neurology, Hospital Professor Doutor Fernando Fonseca, E.P.E. Amadora, Portugal;
2- Department of PaediatricNeurology, Hospital Dona Estefânia, Centro Hospitalar Lisboa Central, E.P.E.;
3- Department of Neuroradiology, Hospital Dona Estefânia, Centro Hospitalar Lisboa Central, E.P.E.;
4- Department of Paediatric Rheumatology, Hospital Dona Estefânia, Centro Hospitalar Lisboa Central, E.P.E.;
5- Paediatric Intensive Care Unit, Hospital Dona Estefânia, Centro Hospitalar Lisboa Central, E.P.E.
- Neuropenews – News blog of the European Federation of Neurological Societies. 1 Dec 2012.
Introduction: Neuromyelitisoptica (NMO) affects preferentially the optic nerve and spinal cord; and its serum marker, the antibody against AQP4, has improved the diagnosis. AQP4 is heavily expressed in area postrema, which explains clinical presentations such as incoercible vomiting. Nonetheless, it is also expressed in other organs such as kidneys and stomach and the reason why they are spared is not understood. With this clinical report we intend to highlight the potential pitfalls in the diagnosis of NMO, namely with atypical presentations such as vomiting.
Clinical Report: A previously healthy 14-year-old child presented to the A&E due to a subacute onset of vomiting and hiccups. A couple of days later she experienced weakness in the lower limbs with further progression to the upper limbs and urinary retention. On examination, the cranial nerves were spared (without RAPD), there was no Lhermitte's sign; but a tetraparesis with a pyramidal pattern was found. Also, there was a sensory thoracic level, hyperreflexia and bilateral Babinski's sign. The aetiological investigation disclosed: CSF with pleocytosis (240/uL) with predominance of polymorphonucleated cells, hyperproteinorraquia (113mg/dl) and oligoclonal bands in a mirror pattern. All the other CSF evaluations were unremarkable, including cultures and immune tests. All other CSF evaluations were unremarkable, including cultures and immune tests. Extensive lesion from the area postrema up to the conusmedullaris, with preferential involvement of the grey matter (figures 1 and 2), positive anti-AQP4-IgG antibodies and also both haematuria and proteinuria was found. Methylprednisolone was promptly started but due to clinical deterioration, with necessity of invasive ventilation, cycles of IVIg, Plasma Exchange, cyclophosphamide, and rituximab were initiated. After approximately 6 months at the ICU, in spite of the aggressive treatment strategy, she deteriorated with bilateral optic neuritis, tetraplegia and finally fatal dysautonomia.
Key-words: hiccups, vomiting, neuromyelitis optica.