Neurological involvement in X-linked hypophosphataemic rickets.

X-linked hypophosphataemic rickets is a familial form of Vitamin D resistant rickets in which gross bony and ligamentous changes may occur. Two patients showing severe spinal disease with evidence of spinal cord compression requiring neurosurgical intervention are reported. The management of such lesions may be problematic as cord compression may be found at several levels at presentation, and further difficulties develop after neurosurgical treatment.

Transient uniocular visual loss on deviation of the eye in association with intraorbital tumours.

Five patients with unilateral orbital tumours are described in whom transient loss of vision occurred on deviation of the affected eye from the primary position. Other presenting features were diplopia, proptosis, poor visual acuity, visual field defects, pupillary abnormalities, fundal changes and altered colour vision. Abnormalities on fluorescein angiography suggest that the visual loss is due to transient ischaemia. Temporary uniocular loss of vision on eye movement may be an early sign of an intra-orbital mass.

Continuous wave Doppler ultrasonography in the detection of carotid stenosis and occlusion.

Directional continuous wave Doppler ultrasonography has been used to assess the extracranial carotid arteries of over 500 patients, 90 of whom have had angiography performed. The angiographic and Doppler findings are compared, showing that this simple ultrasound technique is able to detect carotid stenosis and occlusion, but is unreliable in the detection of mild atheromatous change. In this series, the method detected 90% of the angiographically proven carotid stenoses, being considerably more accurate than routine auscultation. It would seem that continuous wave ultrasonography is a safe and practical screening test in those patients in whom arteriography is being considered.

Hidradenoma with intracranial involvement.

A case of recurrent hidradenoma of the external ear with intracranial spread is described. The presentation, classification and management of this rare tumour are discussed and the importance of adequate long term review is stressed.

Chronic asymmetrical spinal muscular atrophy.

The clinical and neurophysiological features of 18 cases of chronic asymmetrical spinal muscular atrophy are described. These were patients presenting with asymmetrical neurogenic atrophy involving one or more limbs who had no evidence of pyramidal tract dysfunction after 3 or more years of symptoms. There were twice as many males as females and the mean age of onset of the disorder was about 32 years. None of the patients had bulbar involvement. The tendon reflexes tended to be depressed. The distribution of muscle weakness in the limbs was very variable, and only slowly progressive. In 5 cases symptoms and signs were confined to the hands and forearms. Motor nerve conduction velocities to wasted muscles were slightly reduced but there was no evidence of generalised neuropathy. A diagnosis of chronic asymmetrical spinal muscular atrophy, as opposed to that of classical motor neurone disease, is favoured by an age of onset under 40 years, an absence of pyramidal signs or bulbar involvement after 3 years or more of symptoms, and depressed or absent tendon reflexes. The 2 conditions appear to be clinically distinct and prognosis is considerably better in chronic asymmetrical spinal muscular atrophy. The aetiology of this condition in unknown; it may be of relevance that 2 patients in this series had close relatives with Werdnig-Hoffmann disease.

X-linked recessive bulbospinal neuronopathy: a report of ten cases.

A form of adult onset 'bulbospinal muscular atrophy' of X-linked recessive inheritance is described in 10 patients from eight families. Muscle weakness in the limbs was mainly proximal and developed in the third to fifth decades of life, often preceded by muscle cramps on exertion and tremor of the hands. Weakness and fasciculation of the facial muscles and tongue were prominent. All the patients had gynaecomastia and some were infertile. Two had diabetes mellitus. Motor nerve conduction studies were normal but most patients had small or unrecordable sensory action potentials in the absence of clinical sensory loss. Plasma creatine kinase levels were considerably elevated and muscle biopsies showed neurogenic atrophy together with secondary myopathic changes. The importance of recognising this distinctive disorder in single cases (six of the present series) is emphasised.

Unusual presentation of traumatic extracranial internal carotid artery aneurysm.

A young man presented with apparent transient ischemic attacks following a motorcycle accident in which he sustained minor injuries only. Computerized axial tomography demonstrated a small right frontal infarct, and angiography revealed an aneurysm of the right internal carotid artery in its extracranial course. This was thought to be traumatic in origin.