An unusual case of phospholipidosis

Summary We present the results of a structural, histochemical and lipid-chromatographic study of tissues obtained at postmortem from an unusual case of phospholipidosis. A previous biopsy of the appendix and liver (Elleder et al., 1975a) had revealed a predominance of phosphoglyceride storage, principally of lysobisphosphatidic acid (LBPA) postmortem material showed that this lipid was stored exclusively in central neurons. In the spleen and the lymph node, however, sphingomyelin (SP) was shown, histochemically and chromatographically, to be the main lipid stored. Total sphingomyelinase (SPase) activity in the appendix was reduced to about 50% of normal. Neuroaxonal dystrophy (NAD) and a conspicuous discrepancy between the degree of distension of some neurons and their lipid content deserve special mention. The case is contrasted with classical sphingomyelinosis; the complexity of the Niemann-Pick group of diseases is discussed as an indication of the difficulties of classification of any atypical case.     

An unusual case of haemophilia--a case report

Haemophilia in a female is very rare. We report a case of haemophilia in a female with a male sex chromosome pattern.     

An unusual case of glandular schwannoma

Glandular differentiation is exceedingly rare in peripheral nerve sheath tumors. In this report, an exceptional case of retroperitoneal glandular schwannoma is described in which the glandular element is markedly atypical, whereas the schwannian component is benign by morphologic analysis. To the best of our knowledge, the biologic behavior for such a lesion is unknown because similar cases have not yet been described in the literature.     

An unusual case of ectodermal dysplasia

The syndrome was characterized by striking hypoplasia of nails, malformations of hands and feet, curly hair, small lower teeth and seizures. There were no similarly affected relatives. Death occurred at 31 months with the patient apparently in status epilepticus with terminal hepatorenal syndrome.     

An unusual case of biliary atresia

Intrahepatic biliary cysts are rarely seen in the patients with biliary atresia. We describe a ten-month-old child with biliary atresia in whom the abdominal imaging studies (ultrasonography, computed tomographic scan and magnetic resonance cholangiopancreatography) revealed multiple intrahepatic biliary cysts ('bile lakes'). The child also had intrapulmonary shunting of blood due to pulmonary arteriovenous fistulae, which were demonstrated on contrast-enhanced echocardiography. Both these findings, 'bile lakes' and pulmonary arteriovenous fistulae occur rarely in biliary atresia.     

An unusual case of nicotine dependence

The case of a 49-year-old woman who has been brushing her teeth for 12 years with large amounts of snuff is described. She was dependent on the habit and had plasma nicotine and cotinine levels similar to those found in heavy smokers. Historical and cultural aspects of the use of snuff are discussed.