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BACKGROUND: Multinodular and Vacuolating Neuronal Tumor (MVNT) of the cerebrum is a benign lesion described recently in the WHO CNS tumours in 2016. Although this tumour is uncommon, clinicians should be acquainted with the possible presentation and imaging findings. CASE REPORT: We present a case of a young gentleman whose only symptom was absence seizures. Brain imaging showed lesions, compatible with this rare diagnosis. CONCLUSION: Our description of imaging findings on MRI highlights the characteristic cystic appearances of note in the right occipital lobe, in contrast to the temporal lobe as the predominant location found in previous cases.
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BACKGROUND: Orbital myositis is an idiopathic, inflammatory, non-infectious condition, typically confined to more than one extraocular muscle and usually targeting young females in their third decade. CASE REPORT: We describe a case of orbital myositis uncommonly afflicting an adult male. He initially presented with a sensation of dizziness when turning his head and mobilising, together with right-sided orbital pain that failed to respond to the vestibular sedative cinnarizine. Failure to resolve and development of diplopia initially prompted a working diagnosis of ocular myasthenia gravis. On further investigation using HESS charting, paresis in the inferior and medial rectus and superior oblique ocular muscles of the right eye were elicited correlating with clinical examination. However, the lack of response to low dose steroids and acetylcholinesterase inhibitors, together with a negative screen for myasthenia antibodies, precluded a diagnosis of ocular myaesthenia gravis from being made. Other investigations included a high creatinine kinase and lactate dehydrogenase which indicated pathology in the extraocular muscles themselves. An MRI scan showed normal extraocular muscle thickness while excluding other orbital pathology. Exclusion of a variety of other conditions subsequently led to a diagnosis of orbital myositis. CONCLUSION: Response to high dose steroids consolidated this diagnosis with a rapid response ascertained clinically by resolution of pseudo-vertigo and pain, as well as the ophthalmoplegia with follow-up on HESS charting. We aim to raise awareness of this rare condition that carries a good response to steroids.
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BACKGROUND: Mutations in Leucine-rich repeat kinase 2 NM_198578 (LRRK2 c.6055G > A (p.G2019S), LRRK2 c.4321C > G (p.R1441G)) and alpha-synuclein NM_000345 (SNCA c.209G > A (p.A53T)) genes causing Parkinson's disease (PD) are common in Mediterranean populations. Variants in the Quinoid Dihydropteridine Reductase NM_000320 (QDPR c.68G > A (p.G23D)), Sepiapterin Reductase NM_003124 (SPR c.596-2A > G) and Methylenetetrahydrofolate Reductase NM_005957 (MTHFR c.677C > T and c.1298A > C) genes are frequent in Malta and potential candidates for PD. METHODS: 178 cases and 402 control samples from Malta collected as part of the Geoparkinson project were genotyped for MTHFR polymorphisms, QDPR and SPR mutations. Only PD and parkinsonism cases were tested for SNCA and LRRK2 mutations. RESULTS: LRRK2 c.4321C > G and SNCA c.209G > A were not detected. The LRRK2 c.6055G > A mutation was found in 3.1 % of Maltese PD cases. The QDPR mutation was found in both cases and controls and did not increase risk for PD. The SPR mutation was found in controls only. The odds ratios for MTHFR polymorphisms were not elevated. CONCLUSIONS: The LRRK2 c.6055G > A is a cause of PD in the Maltese, whilst QDPR c.68G > A, SPR c.596-2A > G and MTHFR c.677C > T and c.1298A > C are not important determinants of PD.
