Lipid storage myopathies (LSMs) are characterized pathologically by the accumulation of lipid droplets in muscle fibers due to impaired cellular lipid metabolism. The purpose of this study was to determine etiologies and genetic mutations associated with LSMs in ethnic Han Taiwanese. The usefulness of the blood acylcarnitine (AC) profile for diagnosing LSMs in adult patients was also investigated. Nine patients were diagnosed with late-onset LSMs following a review of muscle biopsies and medical records and were recruited retrospectively. Genetic studies were performed to detect mutations in the SLC22A5 for primary carnitine deficiency, PNPLA2 for neutral lipid storage disease with myopathy, ABHD5 for neutral lipid storage disease with ichthyosis, ETFDH for multiple acyl-CoA dehydrogenation deficiency (MADD), and CPT2 for carnitine palmitoyltransferase II deficiency. Blood AC levels were measured by tandem mass spectrometry. The mutation c.250G>A in ETFDH was detected in seven (78%) patients, six of whom were homozygous for the variant. Patients with ETFDH mutations had elevated blood levels of ACs ranging from C8 to C16 species, a pattern consistent with MADD. ETFDH c.250G>A mutation is common in Taiwanese patients with late-onset LSMs. The blood AC profile is a sensitive biochemical marker for diagnosing MADD arising from ETFDH mutations in adults.

Spontaneous intracranial hypotension (IH) may indicate cerebrospinal fluid (CSF) leakage, in the absence of a known dural puncture or tear. Intracranial vascular complications of spontaneous IH include subdural haematoma (SDH), subdural effusion (SDE) and, rarely, cerebral venous thrombosis (CVT) (1-3) and dural arteriovenous fistula (AVF) (3). In this report, we describe a patient with spontaneous IH who unusually developed all of these intracranial vascular complications. It is noteworthy that CVT occurred as late as 4 months after onset of IH.

Cluster headache (CH) -a severe, painful, and always unilateral syndrome -is characterized by periodicity and symptoms of both cranial parasympathetic activation (i.e. rhinorrhoea, lacrimation) and sympathetic deficit (i.e. meiosis, ptosis, and impaired sweating) (1). Dodick et al.(2) have suggested hypothalamus dysfunction as the primary CH mechanism.In a previous report on angiographic changes during a CH attack, Ekbom and Greitz (3) described dilation of the ophthalmic artery and spasms in the extradural segment of the internal carotid artery on the same side as the headache.In this report we will describe two case studies of patients with cluster-like headache resulting from vertebral artery dissections and lateral medullary infarctions. We present angiographic evidence of vascular activation during these headaches as well as evidence of cyclical attacks during cluster-like headache. Case reports Case 1A 45-year-old female suffering from acute onset pain over the right side of her neck, accompanied by dizziness, numbness, and unsteadiness was admitted to our neurological ward on 10 January 2001. She was not involved in a traffic accident, nor did she receive massage or chiropractic treatment prior to her attack. Her history revealed 17 years of controlled hypertension, but she denied having a history of headaches.At admission, a neurological examination revealed right-sided ptosis with a smaller pupil compared with her left side. Soft palate elevation and gag reflex were normal, but mild dysphagia was evident. Muscle power and deep tendon reflexes were normal. Pin-prick, light touch, and temperature sensations were decreased on the right side of her face and left limbs. Vibration sensation was not involved. Right-sided limb ataxia was noted during finger-nose-finger and heel-knee-shin tests. Rightsided lateral medullary syndrome was suspected. Laboratory tests (including blood cell count, biochemistry, coagulation factor, antinuclear antibodies, C3, C4, homocysteine, protein C, protein S, and VDRL) were all normal. Magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) studies showed a right-sided medullary infarction and possible right-sided vertebral artery dissection (Fig. 1).On the second day following admission, the patient reported another kind of headache -a severe throbbing sensation over her right frontal area with marked sweating, rhinorrhoea, and tearing on the right side. Her conjunctiva was red and swollen. She suffered two or three headaches, each one lasting for approximately 2 h. Based on the assumption of cluster-like headaches, the patient was treated with a non-steroidal anti-inflammatory drug upon each onset. Neither ergotamine nor sumatriptan was given due to the patient's stroke status. An angiographic examination was performed on day 3 of her admission when the headaches were still prominent. The test results showed a tapered narrowing and non-opacification of the mid-and distal portions of the vertebral artery, compatible with a dissection. We also noted a clear vaso...