Synovial neurofibromatosis in von Recklinghausen’s disease

doi:10.1016/j.amjmed.2004.12.0316. Weisse ME, Person DA, Berkenbaugh JT Jr. Treatment of candida arthritis with flucytosine and amphotericin. J Perinatol. 1993;13:402– 404.
7. Segal E, Romano A, Eylau E, Stein R. Isolation of Candida tropicalis from an orbital infection as a complication of maxillar osteomyelitis. Infection. 1974;61:455–459.
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Synovial neurofibromatosis in von Recklinghausen’s disease
To the Editor:
A 45-year-old woman with von Recklinghausen’s dis- ease (NF-1) presented with a 10-year history of swelling and a 12-month history of pain in her left wrist. NF-1 had been diagnosed in childhood (her mother, one of her sisters and her brother were affected, too), but the patient had no previous history of musculoskeletal disorders.
Physical examination revealed numerous and diffuse characteristic skin lesions including café-au-lait spots and plexiform neurofibromas. There was evidence of bulky dor- sal synovitis of the left wrist; the remainder of the joint examination was normal.
Radiographic study of the left hand showed destructive arthropathy of the second to the fifth carpometarcarpal joints (Figure). Radiocarpal, interphalangeal, and metacar- pophalangeal joints were normal.
Treatment consisted of a surgical synovectomy and ar- throdesis of the second to the fifth carpometarcarpal joints and of the second row of carpal bones.
Pathologic examination of the synovial showed hyper- trophic noninflammatory synovial tissue entirely involved
by a diffuse neurofibroma with foci of pacinian differenti- ation and plexiform features, extending to the surrounding connective and adipose tissues. Moreover, metaplastic car- tilaginous and osseous components were intermingled, showing an associated osteochondromatosis synovitis of the secondary type.
Von Recklinghausen neurofibromatosis (NF-1) causes various skeletal disorders including scoliosis, hypoplastic pedicles, scalloping of vertebral bodies, pseudarthrosis, nonossifying fibromas, and cystic bone lesions. Some of these cystic lesions are superficial bone erosions due to the development of subperiostal or periostal neurofibromas. In the literature, only one case of neurofibromatosis synovitis masquerading monoarticular arthritis has been reported.1 To our knowledge, this is the first published case of destructive arthropathy due to synovial neurofibroma, complicated by a secondary osteochondromatosis.
Anne Grasland, MD Philippe Vinceneux, MD
Service de médecine interne Hôpital Louis Mourier
Université Paris VII
Hôpital Max Fourestier Nanterre, France
Maggy Grossin, MD Service d’anatomo-pathologie
Hôpital Louis Mourier Université Paris VII
Colombes, France
doi:10.1016/j.amjmed.2004.12.031
Requests for reprints should be addressed to Dr. Anne Grasland, Ser- vice de Médecine Interne, Hôpital Louis Mourier, 178 rue des Renouillers, 92700 Colombes, France.
E-mail address: [email protected]
Figure Radiographic study of the left hand showing destructive arthropathy of the second to the fifth carpometarcarpal joints.
798 The American Journal of Medicine, Vol 118, No 7, July 2005
Reference
1. Till SH, Amos RS. Neurofibromatosis masquerading as monoarticular juvenile arthritis. Br J Rheumatol. 1996;36:286–288.
Utility of PCR in diagnosing complicated cases of unusual clinical manifestations of Salmonella enterica var. paratyphi A
To the Editor:
Enteric fever (EF) is a major public health concern in the developing countries.1 It is well known for its varied clinical presentation2-4 and is often marked by multi-systemic com- plications, and it is sometimes fatal when diagnosed late or not treated effectively.4
Isolation of Salmonella spp. by blood or bone-marrow cul- ture is the most definitive diagnostic procedure for detection of enteric fever.5 However, the culture techniques have their own limitations in terms of sensitivity. Similarly, a serological test such as Widal lacks diagnostic utility due to its nonspecificity in endemic areas.6 Polymerase chain reaction (PCR) is a useful tool, especially in patients who have received prior antibiotic therapy because it amplifies target DNA sequences that are present in traces in clinical samples.7,8
We report 2 cases of Salmonella enterica var. paratyphi A infection presenting with unusual clinical manifestations. A multiplex-polymerase chain reaction to detect Salmonella spp. as well as Salmonella typhi from bone marrow aspirate confirmed the diagnosis.
The first case, a 24-year-old-woman, reported fever with chills and dry cough for 3 weeks followed by diarrhea of 2 days duration. She also complained of malaise, anorexia, weight loss, and abdominal distension. On admission, the patient was febrile, conscious, and looked pale and toxic. Abdominal examination showed moderate hepatospleno- megaly. Provisional differential diagnoses included malaria, visceral leishmaniasis, disseminated tuberculosis, leukemia, lymphoma, and enteric fever. Significant laboratory findings revealed hemoglobin of 7.4 g/dL, leucocyte count of 2000/ mm3, and an erythrocyte sedimentation rate (ESR) of 71 mm in the first hour, with trace proteinuria. Peripheral smear showed no abnormal cells or parasites. Blood and urine cultures were sterile. No abnormality was detected on chest radiograph. Bone marrow aspirate was subjected to microbiological and cytopathological evaluation. Bone mar- row smear was negative for malarial parasite, Leishmania donovani bodies, and acid fast bacilli. Culture of bone marrow was sterile for aerobic and anaerobic bacteria. Bone marrow was hypercellular with normoblastic maturation. No abnormal cells were seen.
The second patient was a 63-year-old-woman admitted
with fever, cough with expectoration, and pain in dorsal spine for 4 weeks. She also complained of malaise, an- orexia, weight loss, and abdominal discomfort. Before ad- mission, she had received antibiotic treatment with no re- sponse. Routine investigations, including a radiograph of the chest, were unremarkable. Abdominal examination re- vealed mild hepatosplenomegaly. Provisional diagnoses in- cluded enteric fever and disseminated tuberculosis. Labora- tory investigations showed haemoglobin of 8.0 g/dL, leucocyte count of 4000/mm3, an ESR of 50 mm in the first hour and a reactive tuberculin test. Cultures of blood and urine were reported as sterile. Sputum smears were negative for acid fast bacilli. Chest radiograph was suggestive of bilateral mediastinal lymphadenopathy. A contrast-en- hanced computed tomography of chest and dorsal spine confirmed mediastinal adenopathy with evidence of necro- sis and inflammatory lesions in lower dorsal vertebrae. With a diagnosis of disseminated tuberculosis, the patient was started on antitubercular treatment. In view of poor thera- peutic response, bone marrow aspiration and biopsy were performed. The bone marrow smear was negative for ma- larial parasite, Leishmania donovani bodies, and acid fast bacilli. No abnormal cells or granulomas were seen. Cul- tures were negative for both aerobic and anaerobic organ- isms, including mycobacteria.
At this stage, a multiplex PCR-based assay was performed on both the bone marrow samples to exclude enteric fever.9
Both the bone marrow samples tested PCR positive (1530 bp), which led to the diagnosis of enteric fever due to Salmonella spp. Subsequently, nonlactose fermenting colonies were iso- lated from bone marrow cultures after 7 days of aerobic incu- bation. The organisms isolated were identified as Salmonella enterica var. paratyphi A by conventional and serological methods. The isolates were further confirmed by the API 20E identification system (bioMerieux Vitek, Inc., St. Louis, MO). Both the isolates were sensitive to amoxicillin, chloramphen- icol, ciprofloxacin, cotrimoxazole, ceftriaxone, and gentami- cin. Thereafter, the patients were successfully treated with oral ciprofloxacin.
In both the cases, S. paratyphi A presented with unusual clinical features. In case 1, the patient presented with hep- atomegaly, a large splenomegaly, and sternal tenderness leading to the initial diagnosis of malaria, leishmania, dis- seminated tuberculosis, and haematological malignancy. Pancharoen et al have reported splenomegaly in over 18% of hospitalized paratyphoid cases.4 S. paratyphi A causing large splenomegaly is indeed an unusual clinical presenta- tion. In case 2, the patient’s history and investigations, which included prolonged fever, respiratory symptoms, a positive tuberculin test, bilateral lymphadenopathy on chest radiograph, and CECT chest, led to a diagnosis of dissem- inated tuberculosis. However, inadequate clinical response led to suspicion of an alternate cause of fever.
S. paratyphi A is responsible for 3% to 17% of enteric fever cases reported in India and is now well identified in enteric fever cases for its varied clinical presentations and
Requests for reprints should be addressed to Rama Chaudhry, MD, Department of Microbiology, All India Institute of Medical Sciences, New Delhi 110029, India.
E-mail address: [email protected]
799Chaudhry et al Utility of PCT in Diagnosing Salmonella Enterica
Synovial neurofibromatosis in von Recklinghausen’s disease
To the Editor