Whipple's disease of the central nervous system

Silbert, Shirley W.; Parker, Eugenia; Horenstein, Simon

doi:10.1007/bf00685145

Cited by 42 publications

(15 citation statements)

References 16 publications

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“…This is, to our knowledge, for the first time described in detail by longitudinal PSG records. In previous descriptions, sleep disturbances in WD patients are just mentioned 5,7,8 . A case of persistent and prolonged insomnia, however, was recently studied in detail 9 .…”

Section: Discussionmentioning

confidence: 99%

Hypersomnia in Whipple disease: case report

Maia

Marta

Lopes

et al. 2006

Arq. Neuro-Psiquiatr.

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-Whipple disease (WD) is a rare systemic infection caused by Tropheryma whippelii. Neurological involvement has been recognised in 40% of patients, either as initial manifestations or during the course of the disease. We report on a 45 years-old man with WD with initial, persistent and irresistible episodes of daytime somnolence. The patient was HLA-DQB1*0602 positive (genetic marker for narcolepsy). WD diagnosis was suspected on clinical and MRI basis and confirmed by histological and immunohistochemical study of duodenal biopsy. Forty months later all clinical features improved, narcoleptic-like episodes disappeared and cerebral MRI and CSF normalised. Longitudinal neurophysiological studies revealed persistent sleep pattern abnormalities with sleep fragmentation, paucity of slow wave and of REM sleep. The disruption of the hypocretin circuitry in the hypothalamic -diencephalic region triggered by the infection was the probable cause of the hypersomnia and narcopleptic symptoms. WD should be added to the list of causes of secondary hypersomnia.KEY WORDS: Whipple disease, hypersomnia, multiple sleep latency test, HLA (DQB1*0602). Hipersónia na doença de Whipple: relato de casoRESUMO -A doença de Whipple (DW) é infecção sistémica rara causada pelo Tropheryma whippelii. Cerca de 40% dos doentes apresentam envolvimento neurológico, seja como manifestação inicial da doença, seja durante o seu curso. Apresentamos o caso de um homem de 45 anos com doença de DW com episó-dios iniciais, persistentes e irresistíveis de sonolência durante a actividade diurna. O doente era positivo para o HLA-DQB1*0602 (marcador genético de narcolepsia). A suspeita do diagnóstico de DW foi levantada com base na clínica e RM e confirmada por estudo imunocitoquímico do material de biópsia jejunal. Quarenta meses mais tarde, todas as manifestações clínicas melhoraram, os episódios narcolépticos desapareceram, e a RM e o LCR normalizaram. Os estudos neurofisiológicos seriados do sono revelaram alterações persistentes caracterizadas por fragmentação do sono, escassez de ondas lentas e sono REM. A perturbação do circuito da hipocretina na região hipotálamo-diencefálica, causada pela infecção, foi a causa provável da hipersónia num doente geneticamente susceptível. A DW deve ser incluída nas causas de hipersónia secundária. PALAVRAS-CHAVE: doença de Whipple, hipersónia, teste de latências múltiplas, HLA (DQB1*0602).When George H Whipple first described in 1907 the autopsy findings of a case of "intestinal lipodystrophy" no neurological manifestations were reported and pathology of central nervous system (CNS) was not described. Whipple disease (WD) was born. It is now believed that the CNS is the major extra-intestinal site of involvement 1,2 . Data in the literature report a variable frequency of neurological symptomatology of 5-40% with only 5% with exclusive CNS involvement 1-4 . WD is caused by Tropheryma whippelii (TW) and it is generally accepted that both the presence of the bacillus and the host response are responsible for the ...

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Section: Discussionmentioning

confidence: 99%

Hypersomnia in Whipple disease: case report

Maia

Marta

Lopes

et al. 2006

Arq. Neuro-Psiquiatr.

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“…Focal CNS lesions are characterized by the presence of PASpositive perivascular macrophages. These lesions are scattered within the cortical and subcortical gray matter of the cerebrum, the nuclear gray matter of the brain stem, and the cortical and nuclear gray matter of the cerebellum (172). Lesions and macrophages are less numerous in the white matter.…”

Section: Clinical Manifestationsmentioning

confidence: 99%

“…Lesions and macrophages are less numerous in the white matter. The gray and white matter may show moderate gliosis at pathological examination (24,172). Pleocytosis and/or elevated protein levels in cerebrospinal fluid are uncommon.…”

Section: Clinical Manifestationsmentioning

confidence: 99%

Whipple's Disease and “Tropheryma whippelii”

2001

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SUMMARY Whipple's disease is a rare bacterial infection that may involve any organ system in the body. It occurs primarily in Caucasian males older than 40 years. The gastrointestinal tract is the most frequently involved organ, with manifestations such as abdominal pain, malabsorption syndrome with diarrhea, and weight loss. Other signs include low-grade fever, lymphadenopathy, skin hyperpigmentation, endocarditis, pleuritis, seronegative arthritis, uveitis, spondylodiscitis, and neurological manifestations, and these signs may occur in the absence of gastrointestinal manifestations. Due to the wide variability of manifestations, clinical diagnosis is very difficult and is often made only years or even decades after the initial symptoms have appeared. Trimethoprim-sulfamethoxazole for at least 1 year is usually considered adequate to eradicate the infection. The microbiological diagnosis of this insidious disease is rendered difficult by the virtual lack of culture and serodiagnostic methods. It is usually based on the demonstration of periodic acid-Schiff-positive particles in infected tissues and/or the presence of bacteria with an unusual trilaminar cell wall ultrastructure by electron microscopy. Recently, the Whipple bacteria have been characterized at the molecular level by amplification of their 16S rRNA gene(s). Phylogenetic analysis of these sequences revealed a new bacterial species related to the actinomycete branch which was named “Tropheryma whippelli.” Based on its unique 16S ribosomal DNA (rDNA) sequence, species-specific primers were selected for the detection of the organism in clinical specimens by PCR. This technique is currently used as one of the standard methods for establishing the diagnosis of Whipple's disease. Specific and broad-spectrum PCR amplifications mainly but not exclusively from extraintestinal specimens have significantly improved diagnosis, being more sensitive than histopathologic analysis. However, “T. whippelii” DNA has also been found in persons without clinical and histological evidence of Whipple's disease. It is unclear whether these patients are true asymptomatic carriers or whether differences in virulence exist among strains of “T. whippelii” that might account for the variable clinical manifestations. So far, six different “T. whippelii” subtypes have been found by analysis of their 16S-23S rDNA spacer region. Further studies of the pathogen “T. whippelii” as well as the host immune response are needed to fully understand this fascinating disease. The recent cultivation of the organisms is a promising major step in this direction.

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“…10% of the cases (Schliep et al, 1979). Reports on ocular complications -papilledema, optic atrophy, retinal vascular changes, uveitis, progressive ophthalmoplegia, hyalitis -of this hitherto uncommon disease are given by Jones and Paulley (1949), Knox et al (1968), Stoupel et al (1969), Walsh and Hoyt (1969), Silbert et al (1976), Finelli et al (1977), Font et ak (1978) and by Schliep et al (1979). We found 4 published cases in which both the symptoms and the pathological changes were confined to the brain, with negative findings in the jejunal mucosa and lymph nodes (Romanul et al 1977;Font et al 1978;Feurle et al 1979).…”

Section: *Supported By the Deutsche Forschungsgemeinschaftmentioning

confidence: 99%

Whipple's disease of the central nervous system, associated with ophthalmoplegia externa and severe asteroid hyalitis. A clinicopathologic study

Gärtner

1980

Doc Ophthalmol

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Clinical involvement of the CNS in Whipple's disease is estimated to occur in approx. 10% of the cases. There exist also some reports on ocular complications -papilledema, optic atrophy, retinal vascular changes, uveitis, progressive ophthalmoplegia, and hyalitis. The subject of the present paper is the case of a 26-year-old woman, characterized by initial ophthalmoplegia and a severe bilateral hyalitis, with later progression mainly confined to the brain. Arthralgia or intestinal symptoms were absent during the whole history of the disease. After increasing lethargy and dementia the patient died 6~A years later. As in any of the hitherto reported cases with primary neurological manifestations, the diagnosis was not made during life.The electron microscopy of a vitreous biopsy, performed 3 90 years before death revealed a unique lipidosis of the vitreous body and the occurrence of rod-shaped bodies situated mainly within disintegrated vitreous macrophages. The outer envelope of the bacilliform structures consists only of a plasma membrane which surrounds a pale core or fine granular and filamentous material. The characteristic two additional layers of typical intact bacterial walls are entirely missing. We initially explained these particles as caused by a supposed metabolic abnormality and interpreted them as derived from focal cytoplasmic degradation of the vitreous cells, leading to extrusion of particulate material.

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Whipple's disease of the central nervous system

Cited by 42 publications

References 16 publications

Hypersomnia in Whipple disease: case report

Hypersomnia in Whipple disease: case report

Whipple's Disease and “Tropheryma whippelii”

Whipple's disease of the central nervous system, associated with ophthalmoplegia externa and severe asteroid hyalitis. A clinicopathologic study

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