Am J Med Sci

Erythrocyte uroporphyrinogen decarboxylase activity: diagnostic value and relationship with clinical features in hereditary porphyria cutanea tarda.

Camagna A. Del Duca P. Petrinelli P. Borelli LG. Ciancio L. Cipollone L. Misasi G. Manfredi MR. Dionisi S. de Martinis C.
Institute for Clinical Medicine (II), University La Sapienza, Rome, Italy.
A marked discrepancy between mild and late clinical features and a nearly complete absence of erythrocyte uroporphyrinogen decarboxylase activity (Ery-UROD activity) was observed in a case of inherited porphyria cutanea tarda. The entity and time of appearance of clinical features, the onset of clinical symptoms after exposure to contributing factors, the effectiveness of phlebotomies and heterozygosity of the mother alone for uroporphyrinogen decarboxylase (UROD) deficiency were typical for familial porphyria cutanea tarda (F-PCT), whereas the extremely low UROD activity was peculiar to hepatoerythropoietic porphyria (HEP). These observations indicate that: 1) Ery-UROD activity may not always be useful to discriminate between F-PCT and HEP; 2) Ery-UROD activity does not always correlate with clinical symptoms; 3) in inherited UROD deficiency, the genetic defect may be heterogeneous. Finally, the observed discrepancy may provide additional evidence for the existence of tissue-specific isozymes.

Chronic recurrent multifocal osteomyelitis associated with Crohns disease.

Bognar M. Blake W. Agudelo C.
Internal Medicine Department, VA Medical Center, Emory University Hospital, Atlanta, Georgia, USA.
Chronic recurrent multifocal osteomyelitis (CRMO) was first described by Giedion in 1972 as a self-limited relapsing noninfectious inflammatory condition usually affecting children and adolescents. The association of CRMO with psoriasis, palmoplantar pustulosis, and SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis, and osteitis) has been described. In this case report, we present a 49-year-old man with CRMO coexisting with Crohn's disease. To our knowledge, this is the first report of CRMO with Crohn's disease without the presence of pustular skin lesions or other features of SAPHO syndrome.

Osteomalacia secondary to celiac disease, primary hyperparathyroidism, and Graves disease.

Gannage MH. Abikaram G. Nasr F. Awada H.
Division of Endocrinology, Hotel-Dieu de France Hospital, Beirut, Lebanon.
Primary hyperparathyroidism is seldom associated with other autoimmune disorders. The presence of normocalcemia in primary hyperparathyroidism should prompt the physician to look for vitamin D deficiency. This observation concerns a 34-year-old vegetarian woman with combined primary hyperparathyroidism, Graves' disease, and celiac disease. The patient presented with severe bone deformities; she was unable to walk, and had severe muscular weakness and weight loss. Biochemical findings revealed severe hyperparathyroidism with normocalcemia, hypophosphatemia, very low urinary calcium, and low 25-hydroxy vitamin D level. Thyroid tests showed hyperthyroidism with positive thyroid receptor antibodies, confirming the presence of Graves' disease. Positive antigliadin and antireticulin antibodies and complete villous atrophy on duodenal biopsy established the presence of celiac disease. The patient underwent a near-total thyroidectomy, with the removal of a parathyroid adenoma. To our knowledge, this observation is the first finding of an association between celiac disease, Graves' disease, and primary hyperparathyroidism. It emphasizes the need to rule out intestinal malabsorption in the case of normocalcemic hyperparathyroidism.

Cystic fibrosis: bilateral living lobar versus cadaveric lung transplantation.

Year 1998
Barbers RG.
Division of Pulmonary and Critical Care Medicine, University of Southern California School of Medicine, Los Angeles 90033, USA.
Living donor transplantation is now an acceptable option that should be considered for selected cystic fibrosis patients with end-stage lung disease. Two lungs obtained from live donors can adequately support an adult cystic fibrosis patient. The morbidity from lobectomy to the healthy donor is minimal.

Can a clinical score aid in early diagnosis and treatment of various stroke syndromes?

Year 1998
Akpunonu BE. Mutgi AB. Lee L. Khuder S. Federman DJ. Roberts C.
Department of Internal Medicine, Medical College of Ohio, Toledo 43699-0008, USA.
BACKGROUND: Accurate and timely diagnosis of hemorrhagic and nonhemorrhagic strokes helps in patient management. Neuroimaging studies are useful in diagnosis and distinction of hemorrhagic (HS) and nonhemorrhagic (NHS) strokes. The use of clinical variables, such as Siriraj stroke scores (SSS), has shown good sensitivity, specificity and predictive values (distinguishing stroke types). The aim of our study was to evaluate the use of SSS in a U.S. population and assess whether it could aid to expedite treatment decisions. METHODS: Levels of consciousness, vomiting, headache and atheroma markers used in SSS were applied to patients who met the criteria for stroke. RESULTS: Of the 302 patients identified, the SSS classified 254 with sensitivity of 36% (HS) and 90% (NHS) and positive predictive values of 77% and 61%, respectively. CONCLUSION: Our results suggest that SSS is not reliable in distinguishing stroke types (in a US population). Definite neuroimaging studies are needed prior to thrombolytic therapy.

Central nervous system involvement in patients with HCV-related cryoglobulinemia.

Year 1998
Origgi L. Vanoli M. Carbone A. Grasso M. Scorza R.
Third Division of Internal Medicine, Ospedale Maggiore, University of Milan, Italy.
Central nervous system involvement was rarely described in patients with mixed cryoglobulinemia (MC). Most cases were reported before 1991, so these patients were not tested for hepatitis C virus (HCV) infection. However, two cases of cerebral ischemia in patients with HCV-related MC were recently reported. We describe three patients with chronic HCV and cryoglobulinemia, who complained of mild neurologic symptoms (dizziness, equilibrium impairment, monolateral hyposthenia, and defective sensitivity) which can be ascribed to central nervous system involvement. In all of these patients, brain magnetic resonance imaging showed multiple small hyperintensities compatible with ischemic lesions.

The prevalence and significance of leukocytosis in upper gastrointestinal bleeding.

Year 1998
Chalasani N. Patel K. Clark WS. Wilcox CM.
Emory University School of Medicine and School of Public Health, and the Medical Service of Grady Memorial Hospital, Atlanta, Georgia, USA.
Although leukocytosis has long been recognized to occur in patients with hemorrhage, there are no data regarding leukocytosis in patients with upper gastrointestinal bleeding. We evaluated the prevalence and significance of the admission white blood cell count in consecutive patients admitted to Grady Memorial Hospital with upper gastrointestinal bleeding seen prospectively over a 50-month period. Any white count greater than 8.5 x 10(3)/mm3 was considered abnormal. Of the 731 patients eligible for the study, leukocytosis was seen in 463 (63%). When compared to patients with a normal white count, patients with leukocytosis on admission were more likely to be tachycardic (31.4% versus 24.3%, P = 0.04) and hypotensive (10.9% versus 5.7%, P = 0.018), required more units of blood (4.6+/-5.9 versus 3.5+/-6.0, P = 0.01), had a longer hospital stay (7.3+/-9.7 versus 5.9+/-6.2 days, P = 0.01), and required more frequent surgical intervention for bleeding (8.0% versus 4.2%, P = 0.04). No significant difference in mortality was seen between patients with leukocytosis and those with a normal white count (8.7% versus 6.4%, P = 0.27). Leukocytosis is common in patients with upper gastrointestinal bleeding, appears to reflect the severity of the bleeding episode, and is associated with a more complicated course.

Colonic volvulus and ulcerative jejunoileitis due to occult celiac sprue.

Year 1998
Riobo P. Turbi C. Banet R. Badia A. Lara JI. Miranda R. Herrera-Pombo JL.
Department of Endocrinology, Fundacion Jimenez Diaz, Universidad Autonoma, Madrid, Spain.
Colonic volvulus is a rare complication of celiac disease. A case is reported of a 46-year-old man with a long-standing history of diarrhea and abdominal distention with a diagnosis of irritable bowel syndrome. After an elective inguinal hernia repair, a cecal volvulus and an ulcerative jejunoileitis developed in the patient that required an extensive intestinal resection. Short bowel syndrome developed and was treated with total parenteral and enteral nutrition. The patient had a poor course after reinitiation of oral diet. Subsequently, celiac sprue was diagnosed and the patient improved with a gluten-free diet.