Neurological Manifestations of General Xanthomatosis

Elian, Marta; Bornstein, B; Matz, S; Askenasy, H. M.; Sandbank, U.

doi:10.1001/archneur.1969.00480140015001

Cited by 45 publications

(14 citation statements)

References 8 publications

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“…Occasionally, large XGs of the choroid plexus requir ing surgical intervention for symptoms related to a mass effect or obstructive hydrocephalus in both children [16][17][18][19] and adults [20][21][22][23][24][25][26][27][28][29][30][31][32][33] have been reported. These 'chor oid plexus XGs' are considered pseudoneoplastic [9,14], and can be distinguished from JXG by their histologic appearance, which consists chiefly of foamy histiocytes, cholesterol crystals, and eventually, giant cells and inflam matory infiltrates [9], Intracranial dural [34][35][36], spinal dural [37], and dif fuse leptomeningeal involvement [38] with XGs have been reported. Dural based forms generally occur in indi viduals with Langerhans cell histiocytosis, including Hand-Schuller-Christian (HSC) or Weber-Christian dis ease, and are generally distinguishable from JXG by his tological, immunohistochemical and electron microscop ic features [9,10,34,35,39], However, three recent reports of dural-based lesions more characteristic of JXG in children without HSC or Weber-Christian disease are unusual and noteworthy.…”

Section: Discussionmentioning

confidence: 99%

“…These 'chor oid plexus XGs' are considered pseudoneoplastic [9,14], and can be distinguished from JXG by their histologic appearance, which consists chiefly of foamy histiocytes, cholesterol crystals, and eventually, giant cells and inflam matory infiltrates [9], Intracranial dural [34][35][36], spinal dural [37], and dif fuse leptomeningeal involvement [38] with XGs have been reported. Dural based forms generally occur in indi viduals with Langerhans cell histiocytosis, including Hand-Schuller-Christian (HSC) or Weber-Christian dis ease, and are generally distinguishable from JXG by his tological, immunohistochemical and electron microscop ic features [9,10,34,35,39], However, three recent reports of dural-based lesions more characteristic of JXG in children without HSC or Weber-Christian disease are unusual and noteworthy. Shimosawa et al [10] reported the case of an intradural, extramedullary JXG at T6-T9 in a 13-month-old causing progressive paraparesis, while Kitchen et al [11] reported a JXG arising from the SI nerve root sheath and invading the dorsal root of SI in a 15-year-old girl.…”

Section: Discussionmentioning

confidence: 99%

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Solitary Intracerebral Juvenile Xanthogranuloma

Schultz¹,

Petronio²,

Narad³

et al. 1997

Pediatr Neurosurg

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A case of an intracerebral juvenile xanthogranuloma (JXG) producing complex-partial seizures in a 13-year-old boy is presented. Although the child had no history of JXGs or a systemic histiocytic proliferative disorder, the histopathological and immunocytochemical studies of this lesion were identical to that of a cutaneous JXG. This represents the first description of an isolated intracerebral JXG. On extensive review of the literature, this case comprises only the second reported intracranial lesion and the fourth CNS lesion in a child without cutaneous manifestations of JXG. In contrast to cerebral xanthogranulomas of adulthood, all reported cases of isolated CNS JXG presented with focal symptoms referable to the neuroanatomic localization of the lesion. In this limited series, the magnetic resonance imaging appearance was predictable and consistent, although spinal and intracranial lesions differ with respect to their enhancement with paramagnetic contrast media. While complete surgical excision, if feasible, has been the most utilized form of therapy for symptomatic or progressive lesions, external beam irradiation and cytotoxic chemotherapy have been utilized for unresectable or recurrent disease. Given their rare occurrence and uncertain natural history, it remains unclear whether these solitary CNS lesions represent a distinct clinical entity with a potentially more aggressive clinical course or merely a variant of the systemic non-Langerhans cell histiocytoses.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Solitary Intracerebral Juvenile Xanthogranuloma

Schultz¹,

Petronio²,

Narad³

et al. 1997

Pediatr Neurosurg

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“…Documen-tation of the pulmonary pathology is limited to case reports of ECD (1,(5)(6)(7)(8)(9)(10)(11)(12)(13) and a single series (14). In an extensive review of the literature, Veyssier-Belot et al (4) found that 8 of 59 (14%) reported patients had radiographic evidence of pulmonary involvement with respiratory and cardiac failure, the most common causes of death.…”

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confidence: 99%

Pulmonary Pathology of Erdheim-Chester Disease

et al. 2000

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Erdheim-Chester disease (ECD) is a rare non-Langerhans' cell histiocytosis that may present with pulmonary symptoms. The condition seems to be nonfamilial and typically affects middle-aged adults. Radiographic and pathologic changes in the long bones are diagnostic, but patients often present with extraskeletal manifestations. Advanced pulmonary lesions are associated with extensive fibrosis that may lead to cardiorespiratory failure. The clinical, radiologic, and pathologic features of six patients with ECD with lung involvement are presented. The patients were three men and three women (mean age, 57). Five presented with progressive dyspnea, and one presented with diabetes insipidus. Open-lung biopsies showed histiocytic infiltrates in a lymphangitic pattern with associated fibrosis and lymphoplasmacytic inflammatory infiltrates. The histiocytes did not stain with periodic acid-Schiff. Immunoperoxidase studies performed on specimens from five of six patients showed that the histiocytes were positive for CD68 and Factor XIIIa and negative for CD1a. Specimens from two patients exhibited immunoreactivity for S-100 protein. Electron microscopy studies performed on specimens from two patients showed phagocytic lysosomes but no Birbeck granules. Clinical follow-up of up to 16 years was available. At the end of that time, five patients were dead of complications related to their disease; one patient remains alive 4 years after diagnosis but with severe respiratory compromise. ECD is a rare nonLangerhans' cell histiocytosis that may present as interstitial lung disease and resemble other pulmonary conditions, particularly usual interstitial pneumonitis and pulmonary Langerhans' cell histiocytosis. Recognition of this entity will allow better assessment of its true incidence, therapeutic options, and prognosis.

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“…A similar localization is des cribed by Burger and Vogel [3], Clinical manifestations of cerebral HX vary, of course, according to site, size and number of the lesions. Intracranial hypertension seems, however, uncommon and this is interpreted as being due to the slow growth of the xanthomas [10], In our patient, it was prominent in the final stage of the disease and. together with the cerebellar dysfunction, was due to massive infiltration of the cerebellum and partial obliteration of the fourth ventricle, which might thus be interpreted as of relatively recent origin.…”

Section: Discussionmentioning

confidence: 44%

Histiocytosis ‘X’ of the Central Nervous System

Iraci¹,

Chieco‐Bianchi²,

Giordano³

et al. 1979

Pediatr Neurosurg

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The case is presented of a child with early manifestations of Hand-Schüller-Christian disease limited to exophthalmos, and rapid final progression towards a clinical picture dominated by intracranial hypertension and cerebeliar involvement, caused by massive histiocytic infiltration of the cerebellum, combined with discrete subdural deposits of xanthomatous tissue and minor deposits in other parts of the central nervous system and other organs.

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Neurological Manifestations of General Xanthomatosis

Cited by 45 publications

References 8 publications

Solitary Intracerebral Juvenile Xanthogranuloma

Solitary Intracerebral Juvenile Xanthogranuloma

Pulmonary Pathology of Erdheim-Chester Disease

Histiocytosis ‘X’ of the Central Nervous System

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