Diagnostic and therapeutic trajectory of cluster headache patients in Flanders.

OBJECTIVE: A fraction of cluster headache (CH) patients face diagnostic delay, misdiagnosis, undertreatment and mismanagement. Specific data for Flanders are warranted. METHODS: Data on CH characteristics, diagnostic process and treatment history were gathered using a self-administered questionnaire with 90 items in CH patients that presented to 4 neurology outpatient clinics. RESULTS: Data for 85 patients (77 men) with a mean age of 44 years (range 23-69) were analysed. 79% suffered from episodic CH and 21% from chronic CH. A mean diagnostic delay of 44 months was reported. 31% of patients had to wait more than 4 years for the CH diagnosis. 52% of patients consulted at least 3 physicians prior to CH diagnosis. Most common misdiagnoses were migraine (45%), sinusitis (23%), tooth/jaw problems (23%), tension-type headache (16%) and trigeminal neuralgia (16%). A significant percentage of patients had never received access to injectable sumatriptan (26%) or oxygen (31%). Most prescribed preventative drugs after the CH diagnosis were verapamil (82%), lithium (35%), methysergide (31%) and topiramate (22%). Despite the CH diagnosis, ineffective preventatives were still used in some, including propranolol (12%), amitriptyline (9%) and carbamazepine (12%). 31% of patients had undergone invasive therapy prior to CH diagnosis, including dental procedures (21%) and sinus surgery (10%). CONCLUSION: Despite the obvious methodological limitations of this study, the need for better medical education on CH is evident to optimize CH management in Flanders.

Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.

Autosomal recessive progressive external ophthalmoplegia is a mitochondrial disease characterized by accumulation of multiple large-scale deletions of mitochondrial DNA. We previously reported missense mutations in POLG, the gene encoding the mitochondrial DNA polymerase gamma in two nuclear families compatible with autosomal recessive progressive external ophthalmoplegia. Here, we report a novel POLG missense mutation (R627W) in a sporadic patient and we provide genetic support that all these POLG mutations are actually causal and recessive. The novel patient presented with sensory ataxic neuropathy and has the clinical triad of sensory ataxic neuropathy, dysarthria and ophthalmoparesis (SANDO). This is the first finding of a genetic cause of Sensory Ataxic Neuropathy, Dysarthria and Ophthalmoparesis and it implies that this disorder may actually be a variant of autosomal recessive progressive external ophthalmoplegia. Sensory neuropathy is the initial feature in Belgian compound heterozygote autosomal recessive progressive external ophthalmoplegia patients, all carrying the POLG A467T mutation, which occurs at a frequency of 0.6% in the Belgian population.

Magnetic resonance imaging in a case of migraine with ophthalmoplegia.

We present the case of a migrainous girl who suffered an episode of migraine-like headache associated with ophthalmoplegia. MRI showed reversible enhancement and thickening of the cisternal portion of the oculomotor nerve. This finding suggests a mechanism different from diabetic ischaemic neuropathy, as similar MRI abnormalities were rarely reported in diabetic ophthalmoplegia. The MRI findings are most in favour of an inflammatory cause.

Piracetam in the treatment of myoclonus: an overview.

Myoclonus is a rare, but disabling symptom, occurring in a number of diseases of different origin. Aetiological and neurophysiological classifications, as well as the current treatment in myoclonus are discussed. An overview of the treatment of myoclonus with piracetam in 62 case reports, 3 open trials and 2 doubleblind trials, covering 171 patients is reported.

MR imaging of a metastasis in a meningioma.

We describe the MRI findings in a case of metastasis of a parotid adenocarcinoma into an intracranial meningioma. The lateral part of the tumour had atypical signal characteristics, suggesting the presence of another tumour in the meningioma.

Unilateral internuclear ophthalmoplegia and ipsiversive torsional nystagmus.

We report four patients with internuclear ophthalmoplegia and torsional nystagmus, ipsiversive to the side of the medial longitudinal fasciculus (MLF) lesion. The MLF lesion could be responsible for an inactivation of the ipsilateral interstitial nucleus of Cajal inducing a contraversive slow phase. The presence of a corrective ipsiversive quick phase implicates an intact rostral interstitial nucleus of the MLF.

Cervical dystonia (spasmodic torticollis). Some aspects of the natural history.

A literature survey was done to outline the natural history of cervical dystonia (spasmodic torticollis). The disorder starts between 25 and 60 years with head deviation or neck pain. Sometimes, there are personal or familial extrapyramidal antecedents (tremor, dystonia). The role of a preceding neck or head trauma is unsettled. Often, there is a delay in diagnosis of more than one year. The majority of patients show steady progression of their focal dystonia and reach maximal disability after five years; neck pain occurring in 70-80% contributes significantly to disability. In a third of the cases, there is a progression to segmental dystonia. In about 20% of the patients a spontaneous, sustained or unsustained remission of the torticollis can be observed; this occurs particularly in cases with earlier age of onset. Cervical dystonia has important psychosocial consequences: many patients have to withdraw from their job or from social activities.

Involvement of corpus callosum in amyotrophic lateral sclerosis shown by MRI.

Abnormal high signal in the corticospinal tracts on MRI has been described in amyotrophic lateral sclerosis. We report a case with further high signal in fibres of the corpus callosum on proton density and T2-weighted spin-echo images, closely matching findings of earlier pathological reports.

Pure autonomic failure: a new case with clinical, biochemical, and necropsy data.

Postmortem examination of a patient with pure autonomic failure showed loss of intermediolateral column cells and of sympathetic ganglionic neurons; there were Lewy bodies in sympathetic neurons. No neuronal loss or Lewy bodies were seen in pigmented brainstem nuclei. This case indicates that pure autonomic failure can occur in the absence of presymptomatic Parkinson's disease. Furthermore, it supports the view that in pure autonomic failure the lesion is more distal than in autonomic failure associated with multiple system atrophy.

The vanishing pituitary adenoma.

In a female patient, a pituitary tumour was discovered incidentally. Regular follow-up by magnetic resonance imaging first showed no evolution and later an almost complete disappearance of the lesion. The patient was never treated; a silent infarction of the tumour could explain the spontaneous regression.

Dural arteriovenous malformation involving the Galenic system and producing hydrocephalus.

The case of a man with a large arteriovenous malformation, fed by meningeal arteries and draining into the Galenic system is reported. Mental deterioration and gait ataxia were attributed to an associated noncommunicating hydrocephalus. The symptoms recurred two months after successful ventriculoatrial shunting.

Isolated bilateral oculomotor paralysis due to a ruptured aneurysm.

A patient presented with sudden headache and isolated bilateral third nerve palsy. Neuroradiologic examination disclosed a giant aneurysm of the right internal carotid artery. At postmortem examination, the aneurysm compressed and stretched both oculomotor nerves.