[Rare occurence of dural sinus cavernous fistula as the cause of oculomotor palsy].

In this case report we describe the presence of a dural sinus cavernosus fistula presenting with unilateral oculomotor palsy. Dural arterio-venous fistula is a rare abnormal connection between dural arteries and the venous system. Venous stasis, infarctions and intracranial haemorrhage might arise. Hence, timely diagnosis and intervention is crucial. Symptoms involve focal neurological deficits, cognitive impairment, movement disorders, seizures, symptoms of elevated intracranial or intraocular pressure and bruits or pulsatile tinnitus, which may be heard by auscultation of the skull. Invasive angiography is diagnostic.

Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling.

Isolated complex II deficiency is a rare cause of mitochondrial disease and bi-allelic mutations in SDHB have been identified in only a few patients with complex II deficiency and a progressive neurological phenotype with onset in infancy. On the other hand, heterozygous SDHB mutations are a well-known cause of familial paraganglioma/pheochromocytoma and renal cell cancer. Here, we describe two additional patients with respiratory chain deficiency due to bi-allelic SDHB mutations. The patients' clinical, neuroradiological, and biochemical phenotype is discussed according to current knowledge on complex II and SDHB deficiency and is well in line with previously described cases, thus confirming the specific neuroradiological presentation of complex II deficiency that recently has emerged. The patients' genotype revealed one novel SDHB mutation, and one SDHB mutation, which previously has been described in heterozygous form in patients with familial paraganglioma/pheochromocytoma and/or renal cell cancer. This is only the second example in the literature where one specific SDHx mutation is associated with both recessive mitochondrial disease in one patient and familial paraganglioma/pheochromocytoma in others. Due to uncertainties regarding penetrance of different heterozygous SDHB mutations, we argue that all heterozygous SDHB mutation carriers identified in relation to SDHB-related leukoencephalopathy should be referred to relevant surveillance programs for paraganglioma/pheochromocytoma and renal cell cancer. The diagnosis of complex II deficiency due to SDHB mutations therefore raises implications for genetic counselling that go beyond the recurrence risk in the family according to an autosomal recessive inheritance.

Hypomyelinating Leukodystrophy due to HSPD1 Mutations: A New Patient.

The hypomyelinating leukodystrophies (HMLs) encompass the X-linked Pelizaeus-Merzbacher disease (PMD) caused by PLP1 mutations and known as the classical form of HML as well as Pelizaeus-Merzbacher-like disease (PMLD) (Online Mendelian Inheritance in Man [OMIM] 608804 and OMIM 260600) due to GJC2 mutations. In addition, mutations in at least 10 other genes are known to cause HMLs. In 2008, an Israeli family with clinical and neuroimaging findings similar to those found in PMD was reported. The patients were found to have a homozygous missense mutation in HSPD1, encoding the mitochondrial heat-shock protein 60 (Hsp60), and the disorder was defined as the autosomal recessive mitochondrial Hsp60 chaperonopathy (MitCHAP-60) disease. We here report the first case of this severe neurodegenerative disease since it was first described. Given the fact that the families carried the same mutation our patient probably belongs to the same extended family as the Israeli family. In conclusion, the MitCHAP-60 disease should be considered as a rare differential diagnosis in HML.

Modafinil May Alleviate Poststroke Fatigue: A Randomized, Placebo-Controlled, Double-Blinded Trial.

BACKGROUND AND PURPOSE: Poststroke fatigue is common and reduces quality of life. Current evidence for intervention is limited, and this is the first placebo-controlled trial to investigate treatment of poststroke fatigue with the wakefulness promoting drug modafinil. METHODS: The trial was randomized, double-blinded, and placebo-controlled. Patients were treated with 400-mg modafinil or placebo for 90 days. Assessments were done at inclusion, 30, 90, and 180 days. The primary end point was fatigue at 90 days measured by the Multidimensional Fatigue Inventory-20 general fatigue domain. Secondary end points included the Fatigue Severity Scale, the Montreal Cognitive Assessment, the modified Rankin Scale and the Stroke-specific quality of Life questionnaire. Adult patients with a recent stroke achieving a score of ≥12 on the Multidimensional Fatigue Inventory-20 general fatigue domain were consecutively included. Exclusion criteria were severe cognitive disabilities and contraindications for modafinil treatment. RESULTS: One thousand one hundred twenty-one patients with stroke were screened and 41 patients included, 21 received modafinil. The primary end point, the Multidimensional Fatigue Inventory-20 general fatigue score, did not differ between groups. Patients in the modafinil group obtained better scores on the Fatigue Severity Scale (P=0.02) and in some subscales of the stroke-specific quality of life questionnaire (0.001

[Inflammation as part of cerebral amyloid angiopathy disguised as a tumour].

A male with probable cerebral amyloid angiopathy (CAA)-related inflammation presented with headache and subacute hemi-paresis. After admission he developed a disturbance of consciousness and a CT brain scan showed oedema with significant midline shift. He was treated with corticosteroids with prompt clinical improvement. A MR brain scan after treatment showed confluent T2-weighted lesions, microbleeds and regression of oedema. The patient was discharged in habitual status. During withdrawal of corticosteroids he showed clinical and radiological signs of relapsing CAA-related inflammation.

[Neck pain in children can be caused by a retropharyngeal abscess]. / Smerter i nakken hos børn kan skyldes retrofaryngeal absces.

A six-year-old boy presented with fever, neck pain, and ear pain. Within days, the motility of his neck limited, his temperature rose, and blood samples showed signs of infection. On suspicion of cervical spondylodiscitis, a bone scintigraphy was performed, but gave negative results. A magnetic resonance imaging of the neck area showed results, which led to the diagnosis of a retropharyngeal abscess. This case is a reminder that retropharyngeal abscess poses a diagnostic challenge for the physician, and that the prognosis is potentially serious.

Pseudoaneurysm of the posterior circumflex humeral artery diagnosed by sonography.

We report a rare case of a pseudoaneurysm of the posterior circumflex humeral artery, probably related to a steroid injection in the shoulder 3 months earlier. The clinical presentation was atypical and the location not previously described in the literature. The patient was referred with a painless, nonpulsatile mass in the posterior shoulder region and was suspected of a malignant soft-tissue tumor. Sonography, including power Doppler imaging, demonstrated a pseudoaneurysm, with the intralesional blood-filled cavity developed from the posterior circumflex humeral artery. The diagnosis was confirmed by pathologic examination of the surgical specimen.