ABSTRACT
Glycogen storage diseases are a group of genetic disorders involving pathways for storage of glycogen and its utilization to maintain blood glucose. Clinical manifestations include hypoglycaemia, hepatomegaly, delayed adolescence and hyperlipidaemia. Hyperlipidaemia is frequent and patients surviving long enough are thought to be at increased risk of atherosclerosis. However, no cases have previously been reported. Presented is a 27-year-old male with glycogen storage disease type 1A who sustained a pontine infarction due to basilar artery stenosis. It is believed the cause of this infarction was accelerated atherosclerosis. This is of major significance to those with this disease process who are now surviving into their third and later decades due to improved management of this condition.
ABSTRACT
Two cases of patients struck by lightning are described. One instance occurred while the victim was using the telephone; the other victim received a direct lightning strike to the head. Both patients had acoustic shock injuries and one developed a cerebral infarct. The mechanisms of these injuries are discussed and the relevant literature is reviewed.
Subject(s)
Hearing Loss/etiology , Lightning Injuries/complications , Memory Disorders/etiology , Adolescent , Adult , Electric Injuries , Humans , Lightning Injuries/physiopathology , MaleABSTRACT
Granulomatous angiitis of the nervous system is a rare necrotizing vasculitis that is largely confined to the central nervous system. The case of a 43-year-old patient is presented and the clinical presentation, diagnostic difficulties and treatment are discussed. Patients present in their fourth decade with diffuse and focal neurological symptoms and signs. No single test is diagnostic; however, cerebrospinal fluid lymphocytosis and raised protein levels, changes on cerebral angiography, and leptomeningeal biopsy may confirm the diagnosis. Although the administration of corticosteroid agents has prolonged the survival of the patient, a progression of the disease has been the rule. The administration of corticosteroid and cyclophosphamide agents on alternate days may lead to clinical remission of the disease.
