Lysosomal acid lipase deficiency (LAL-D) is a rare autosomal recessive lysosomal storage disease caused by deleterious mutations in the LIPA gene. The age at onset and rate of progression vary greatly and this may relate to the nature of the underlying mutations. Patients presenting in infancy have the most rapidly progressive disease, developing signs and symptoms in the first weeks of life and rarely surviving beyond 6 months of age. Children and adults typically present with some combination of dyslipidaemia, hepatomegaly, elevated transaminases, and microvesicular hepatosteatosis on biopsy. Liver damage with progression to fibrosis, cirrhosis and liver failure occurs in a large proportion of patients. Elevated low-density lipoprotein cholesterol levels and decreased high-density lipoprotein cholesterol levels are common features, and cardiovascular disease may manifest as early as childhood. Given that these clinical manifestations are shared with other cardiovascular, liver and metabolic diseases, it is not surprising that LAL-D is under-recognized in clinical practice. This article provides practical guidance to lipidologists, endocrinologists, cardiologists and hepatologists on how to recognize individuals with this life-limiting disease. A diagnostic algorithm is proposed with a view to achieving definitive diagnosis using a recently developed blood test for lysosomal acid lipase. Finally, current management options are reviewed in light of the ongoing development of enzyme replacement therapy with sebelipase alfa (Synageva BioPharma Corp., Lexington, MA, USA), a recombinant human lysosomal acid lipase enzyme.

We report on the use of the Ilizarov method to treat 40 consecutive fractures of the tibial shaft (35 AO 42C fractures and five AO 42B3 fractures) in adults. There were 28 men and 12 women with a mean age of 43 years (19 to 81). The series included 19 open fractures (six Gustilo grade 3A and 13 grade 3B) and 21 closed injuries. The mean time from injury to application of definitive Ilizarov frame was eight days (0 to 35) with 36 fractures successfully uniting without the need for any bone-stimulating procedure. The four remaining patients with nonunion healed with a second frame. There were no amputations and no deep infections. None required intervention for malunion. The total time to healing was calculated from date of injury to removal of the frame, with a median of 166 days (mean 187, (87 to 370)). Minor complications included snapped wires in two patients and minor pin-site infections treated with oral antibiotics in nine patients (23%). Clinical scores were available for 32 of the 40 patients at a median of 55 months (mean 62, (26 to 99)) post-injury, with 'good' Olerud and Molander ankle scores (median 80, mean 75, (10 to 100)), 'excellent' Lysholm knee scores (median 97, mean 88, (29 to 100)), a median Tegner activity score of 4 (mean 4, (0 to 9)) (comparable to 'moderately heavy labour / cycling and jogging') and Short Form-12 scores that exceeded the mean of the population as a whole (median physical component score 55 (mean 51, (20 to 64)), median mental component score 57 (mean 53, (21 to 62)). In conclusion, the Ilizarov method is a safe and reliable way of treating complex tibial shaft fractures with a high rate of primary union.

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This pilot study investigated the frequency, cause and progress of abnormal liver function tests (LFTs) in severe anorexia nervosa. Six consecutive cases of anorexia nervosa severe enough to require hospital admission and 14 outpatients with anorexia nervosa had LFTs performed. All inpatients had abnormal LFTs, with grossly elevated liver enzymes in four patients. All normalized quickly with weight gain apart from one whose alanine transaminase (ALT) remained slightly elevated. Investigations failed to reveal any other cause of liver disease. ALT values were slightly elevated in three outpatients. Abnormal LFTs occur in some patients with anorexia nervosa. Most resolve quickly and are not associated with hepatic failure. A larger study is required to determine the frequency of occurrence, cause and natural history.

Hearing loss is not a diagnosis; rather it is a symptom, and patients require careful assessment. The Royal National Institute for the Deaf proposes that hearing aid dispensers should perform this function. Failure ?r.Atedj 1989;299:439-41 Since the introduction of computed tomography (CT) small or asymptomatic chronic subdural haematomas have been recognised with increasing frequency, though their detection may depend on the use of contrast enhancing agents.' Patients with chronic subdural haematoma commonly present with headache, disturbances of higher cerebral function such as personality change and confusion, or features of raised intracranial pressure. Hemiparesis, with dysphasia if the lesion is over the dominant hemisphere, is the most frequent focal neurological deficit. Epilepsy is traditionally thought of as a rare presenting feature.) We describe a patient in whom several different forms of epilepsy were the only clinical manifestations of a very small chronic subdural haematoma. Case historyA 75 year old man was admitted after a witnessed tonic-clonic convulsion. Over the previous two weeks he had suffered three episodes of sudden, complete inability to speak, during which he remained fully conscious without any abnormal movements being noted. Each episode lasted about five minutes. He was seen by his general practitioner, who diagnosed transient ischaemic attacks but did not prescribe aspirin. The patient denied headache, and neither he nor his family could recall any recent head injury. He was taking chlorpropamide for maturity onset diabetes but there was no previous history of epilepsy or cerebrovascular disease. He had never had an excessive alcohol intake. Full neurological examination on admission showed nothing abnormal, and in particular there was no disturbance of higher cerebral function. Blood glucose, electrolyte, and calcium concentrations remained normal throughout.Over the next 24 hours attacks were witnessed during which the patient would become vacant and his head and eyes would deviate to the right. His right arm would then become elevated with external rotation of the shoulder followed by alternating flexion and extension at the elbow while the wrist remained flexed and the fingers extended and abducted. These attacks would last between five and 60 seconds and were followed by a variable period of confusion. They could occur several times an hour, often without complete recovery of consciousness in between. During periods of full consciousness, however, no neurological deficit could be detected. An attack could be terminated with intravenous diazepam, which would continue to act for about 30 minutes. He was given a loading dose of intravenous phenytoin followed by conventional oral doses.About 48 hours after admission a further change was noted, in that he was continuously confused with a fluctuating level of consciousness. On occasions he BMJ VOLUME 299 12 AUGUST 1989 439