Our study, which is one of the largest to date on the topic, shows that FHD lesions are a common complication after radiotherapy for childhood PCNST. The young brain is probably more susceptible to radiation-induced late cerebrovascular injury. Diffuse small vessel disease and ceiling effect may account for the low topographic concordance we found. The clinical implications of FHD lesions in this specific population are yet to be clarified.

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Short lasting unilateral neuralgiform headache with conjunctival injection and tearing (SUNCT) syndrome is a rare trigemino-autonomic cephalalgia characterized by unilateral, periorbital, neuralgiform attacks of short duration accompanied by prominent autonomic dysfunction. Treatment of SUNCT can be challenging and is often ineffective.A 57-year-old man had a 3-month history of intense left periorbital pain, ipsilateral conjunctival injection, and tearing, occurring 5-10/hour and lasting 30 -120 seconds (video), refractory to several medications. Attacks could occur spontaneously or be provoked by mouth movements during talking or chewing. Brain MRI revealed left trigeminal nerve compression (figure, A). Microvascular decompression separated an aberrant loop of the superior cerebellar artery from first division of the trigeminal nerve root (figure, B). The patient has remained asymptomatic off medication since.SUNCT bears several similarities with first division trigeminal neuralgia, but unlike trigeminal neuralgia, symptomatic cases usually appear with posterior fossa and diencephalic lesions.1 In our patient, typical attacks were found in relation to first division trigeminal nerve compression. In such cases, surgical decompression may provide complete resolution of symptoms.

Discussion: In our case-control study two subsets of cancer patients were delineated. In a subgroup, cancer and stroke co-exist, sharing traditional vascular risk factors. In another subset of patients, stroke appears to be directly related to the presence of a malignancy, where hypercoagulopathy turns out to be a decisive mechanism. Conclusion:In clinical grounds, hypercoagulopathy as stroke etiology should prompt the physician to screen the patient for occult cancer.

Results: Sixty-seven patients fulfilled the inclusion criteria. They were mainly Caucasian, 55 female. Median age at onset was 32.0 years and mean follow-up 7.4 ± 6.0 years. Twenty-one patients were definite NMO and optic neuritis (ON) the most frequent initial presentation. Forty-six were classified as NMO spectrum disorders. The main subtypes were recurrent ON and single longitudinally extensive transverse myelitis. Twenty-four patients had positive AQP4-IgG. Twenty-three had other circulating autoantibodies. Fifteen out of 67 patients had concomitant autoimmune disease. There was a significant correlation between the presence of autoimmune disease and the positivity for AQP4-IgG. Five patients died, all definite NMO. Conclusion: This is the first study about this rare disease in Portugal. Demographic features were similar to other studies. The existence of concomitant autoimmune disease was significantly associated with seropositivity for AQP4-IgG.

Background. The mutation 9185T>C in ATP6 gene, associated with Leigh syndrome, was reported in only few families. Motor neuron disease (MND), both clinically and electrophysiologically, was not previously described in association with this mutation. Case Report. 33-year-old male, with family history of mitochondrial disease, presented with cognitive impairment, exercise intolerance, and progressive muscle weakness. Examination revealed global hypotonia, and proximal tetraparesis, without atrophy or fasciculation, pyramidal signs, or sensory symptoms. The laboratory findings revealed an increase of lactate and lactate/pyruvate ratio; electromyogram showed chronic neurogenic compromise; muscle biopsy was suggestive of spinal muscular atrophy and mitochondriopathy; genetic study of SMN1 was negative but detected a homoplasmic mutation 9185T>C in ATP6 gene. His younger sister, with the same mutation, had cognitive impairment, ataxia, and muscle weakness. EMG showed axonal peripheral neuropathy. Conclusion. This case is unique because of the benignity and the coexistence of clinical, neurophysiological, and pathological findings suggestive of MND that, although described in mitochondrial disease, have not yet been reported in association with 9185T>C mutation. The present case contributes to the expansion of the phenotypic expressions of this particular mutation.

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