Multisystem Langerhans cell histiocytosis: Literature review and case report

Langerhans cell histiocytosis (LCH) refers to a group of diseases of unknown etiology, typically discovered in childhood, characterized by the accumulation of Langerhans cells (white blood cells with large cell nuclei that may contain cytoplasmic histiocytosis X bodies) involving one or more organ systems, including bones, lungs, pituitary gland, skin, lymph nodes, and liver. This disease is also known as histiocytosis X or eosinophilic granuloma. Pulmonary LCH is common (identified in 40% of LCH patients) and may be isolated to the lung or involve other organs. Although LCH is characterized by clonal cell proliferation, adult LCH is considered likely to represent the manifestation of an aberrant immune response to an unspecified antigenic stimulus rather than a manifestation of tumor proliferation. We report a very complicated clinical case of LCH, with multiple organ damage that received a variety of different diagnoses. An LCH diagnosis was confirmed based on postoperative spinal cord pathology results and immunohistochemistry examinations. This case report highlights the clinical, laboratory, and imaging signs observed in this case that should be noted to help doctors more quickly recognize, diagnose, and treat similar cases.     

Langerhans cell histiocytosis of the clavicle: a case report

A case of Langerhans cell histiocytosis in a 47-year-old male presenting as an aggressive appearing lesion of the clavicle is reported. It illustrates the difficulties of the radiological diagnosis of a solitary bone lesion. Received 7 July 1997; Revision received 16 October 1997; Accepted 17 November 1997     

Cerebellar and basal ganglion involvement in Langerhans cell histiocytosis

Langerhans cell histiocytosis (LCH) is a disease of unknown cause characterised by proliferation of histiocytic granulomas in tissues; the primary cerebral manifestation is diabetes insipidus caused by hypothalamic infiltration. We present a patient in whom, except for the absence of high signal on T 1 weighting in the posterior pituitary, consistent with central diabetes insipidus, MRI showed no evidence of hypothalamic involvement by histiocytosis, despite the long duration of the disease. However, there was bilateral, symmetrical involvement of the cerebellum and globus pallidus in addition to a calvarial lesion. High signal in the cerebellar white matter on T 2-weighted images may represent demyelination, gliosis and cell loss, as previously reported on pathologic examination. Received: 15 July 1998 Accepted: 2 November 1998     

MRI features of neurodegenerative Langerhans cell histiocytosis

CNS complications of LCH include “space occupying” lesions corresponding to histiocytic granulomas and “neurodegenerative” presentation (ND-LCH) characterized by a progressive cerebellar ataxia. Studies analyzing specifically the MRI presentation of ND-LCH are scarce. We present here the MRIs of 13 patients registered as isolated ND-LCH. Posterior fossa was involved in 12 patients (92%), showing a symmetrical T2 hyperintensity of the cerebellar white matter areas in seven cases with a circumscribed T1 hyperintensity of the dentate nuclei in five cases, definite hyperintense T2 areas in the adjacent pontine tegmentum white matter in nine cases associated with a hyperintensity of the pontine pyramidal tracts in four cases. A cerebellar atrophy was noted in eight cases. The supratentorial region was involved in 11 patients, showing T2 hyperintense lesions in the cerebral white matter in eight cases and a discrete symmetrical T1 hyperintense signal in the globus pallidus in eight patients. A diffuse cortical atrophy was present in three cases and a marked focal atrophy of the corpus callosum in three cases. This series allows us to establish a not previously reported evocative semeiologic MR presentation to precisely orientate to the diagnosis of the pure neurodegenerative form of LCH.     

Langerhans cell histiocytosis

Langerhans cell histiocytosis (LCH) is a complex disease entity comprised of three distinct clinical syndromes that demonstrate indistinguishable histology. These syndromes are: eosinophilic granuloma, which is predominantly osseous or pulmonary; Hand-Schûller-Christian’s disease, which involves multiple organ systems and, most typically, the skull base; and Letterer-Siwe’s disease, the most severe disease manifestation, which typically involves the abdominal viscera. This article reviews our current understanding of Langerhans cell histiocytosis by discussing the history, histology, etiology, and treatment of the disease. It focuses on the radiographic findings and imaging modalities that are the most useful in disease diagnosis and management.     

Langerhans cell histiocytosis of the cervical spine: case report of an unusual location

An unusual location for Langerhans cell histiocytosis of the cervical spine is presented. The osteolytic lesion, instead of being located in the vertebral body, was visualised in the left lateral mass of the fifth cervical vertebra, extending into the vertebral body and through the interapophyseal joint into the lateral mass of the fourth cervical vertebra. Received 16 April 1997; Revision received 20 August 1997; Accepted 18 September 1997     

Paediatric neuroradiological aspects of Langerhans cell histiocytosis

Langerhans cell histiocytosis, previously known as histiocytosis X, is a complex disease consisting of three entities that are all characterized by a proliferation of the Langerhans cell. The clinical course is variable and ranges from a solitary lytic bone or skin lesion with complete remission to a multisystem disorder with possible lethal outcome. The clinical suspicion can be increased based on radiological findings that are important criteria in defining the extent of the disease involvement. A biopsy is often necessary for establishing the final diagnosis. The lytic craniofacial bone lesions are the most common craniospinal abnormality in Langerhans cell histiocytosis. Abnormalities in the hypothalamic–pituitary region are the most frequent manifestations, often accompanied with diabetes insipidus as the presenting symptom. A range of different central nervous system abnormalities can be recognized. It is important to be able to recognize the extensive spectrum of neuroradiological abnormalities in order to arrive at the diagnosis. Neuroimaging plays an even more important role in assessing the response to treatment or possible relapse.     

Pulmonary Langerhans cell histiocytosis in children: A spectrum of radiologic findings

Pulmonary Langerhans cell histiocytosis (PLCH) is a well known entity in adults but is exceedingly rare in children. It is better described in adults than in children. We describe the current understanding of PLCH in children and a spectrum of radiological findings of PLCH in the paediatric population. On high resolution computed tomography (HRCT), PLCH may have variable appearance depending on the stage of disease, ranging from small interstitial nodular opacities to multiple thin/thick walled cysts (often bizarre in shape), eventually leading to marked parenchymal fibrosis and honeycomb pattern. CT finding of PLCH is similar in adult and paediatric populations with the exception that lung base near the costophrenic angle is spared in adults but almost always involved in children.     

Integrated imaging of systemic Langerhans cell histiocytosis in an infant

Langerhans cell histiocytosis (LCH) is a myeloid neoplasm characterized by a clonal proliferation of CD1a+/CD207+ dendritic cells. Although individuals of any age can be affected, the disease is most common in infants younger than 5 years of age, especially males. A wide range of manifestations, from asymptomatic to aggressive, have been described, along with multiorgan involvement. Even though the majority of bone lesions are observed, skin, lymph nodes, brain and lungs can also be involved. The involvement of hematopoietic system, including bone marrow, liver and spleen, is less frequent yet associated with worse prognosis, due to a worse treatment response. Diagnosis of LCH is based on the integration of clinical, laboratory, and radiological data; however, only histopathological examination might confirm it. As far as the spleen involvement is concerned, according to literature, it has been reported in about 15% patients with multisystem involvement, nonetheless only a few cases show parenchymal lesions. The present study reports the case of an infant with LCH with multisystem involvement, including bone, skin, liver, and spleen, with evidence of parenchymal lesions.     

Lacrimal gland and perioptic nerve lesions due to Langerhans cell histiocytosis (2007: 9b)

We report a patient presenting with bilateral lacrimal gland involvement and perioptic nerve sheath lesions due to Langerhans cell histiocytosis (LCH) invasion. LCH is a rare multisystemic disease characterized by a clonal proliferation of Langerhans cells. All organs may be involved with a clinical spectrum ranging from a solitary bone lesion to a severe life-threatening multisystem disease. Osteolytic orbital bone lesions with extension into the adjacent orbital soft tissues have been described. To our knowledge, lacrimal gland involvement has probably been described only once before. Perioptic nerve lesions are also very rare, having been described only three times before. Precisely correct answers were received by closing date from: Kemal DEMIR, Istanbul, Turkey Jose Carlos GALLEGO, Ferrol, Spain Manabu MINAMI, Tsukuba, Japan Ram PRAKASH GALWA, Chandigarh, India Annemie SNOECKX, Zandhoven, Belgium Panagiotis TSIRKINIDIS, Athens, Greece Filip VANHOENACKER, Duffel, Belgium     

颞骨郎格尔汉斯细胞组织细胞增生症的CT及MRI表现

目的 探讨颞骨郎格尔汉斯细胞组织细胞增生症的CT及MRI影像学特点。方法 回顾性分析10例经病理证实的颞骨郎格尔汉斯细胞组织细胞增生症，10例均经过CT检查，其中5例作过MRI检查。结果 5例仅见颞骨病变，其余5例同时累及其他脏器。CT发现10例都累及外耳道和乳突，8例并纱及岩部和鳞部，7例累及中耳、听小骨及内耳骨迷路破坏各2例。CT显示10例颞骨病变区均呈大块溶骨性破坏，轮廓不整，8例边缘清楚无硬化，伴大的软组织肿块，有明显强化；MRI发现5例都累及外耳道和乳突。4例并累及岩部及鳞部。3例累及中耳，1例内耳膜迷路破坏，MRI显示5例颞骨病变在T1WI呈等或低信号，T2WI呈高信号，其中3例呈明显强化。结论 CT可清晰显示颞骨郎格尔汉斯细胞组织细胞增生症的骨质改变，具有重要诊断价值；MRI能清楚显示病变范围，帮助选择最佳治疗方案；2种影像检查方法结合对颞骨郎格尔汉斯细胞组织细胞增生症的诊断、治疗和随访具有重要意义。     

Langerhans cell histiocytosis: unusual skeletal manifestations observed in thirty-four cases

Objective. Unusual manifestations are occasionally encountered in Langerhans cell histiocytosis and may be a source of confusion. The objective of this study was to determine the frequency of occurrence of the unusual manifestations in our case material. Design and patients. Thirty-four children, average age 4.4 years (range 3 months to 16 years) with 262 skeletal lesions of biopsy-proven Langerhans cell histiocytosis (LCH) were retrospectively reviewed to determine the frequency of occurrence of unusual manifestations defined either as an atypical location of a skeletal lesion or an atypical radiographic appearance of the lesion. Results. Twenty-four unusual lesions were found in this retrospective review. Among these were epiphyseal lesions, transphyseal lesions, extracranial ’button’ sequestra, posterior vertebral arch lesions, dural extension of vertebral lesions, and fluid-fluid levels. The finding of fluid-fluid levels has not previously been described in the radiologic literature. Involvement of unusual sites included clavicles and small bones of the hands and feet. Conclusions. Radiographic, computed tomographic, and magnetic resonance imaging of LCH yield a variety of unusual manifestations. Recognition of these varied appearances of LCH may prevent confusion of such appearances with other pathologic processes. When the unusual manifestation occurs as the initial finding of the disease, LCH should be included in the differential diagnosis.     

儿童郎格尔汉斯细胞增生症的CT表现（附13例分析 ）

目的 探讨CT对郎格尔汉斯细胞组织细胞增生症（Langerhans cell histocytosis,LCH)造成多脏器损害诊断的价值及限度。方法 分析13例经临床、实验室、病理检查确诊的LCH的CT表现。局限性LCH4例,广泛性LCH9例。全部病例均行颅脑、胸部、肝、脾CT平扫检查,4例行增强检查。结果 男性多于女性,颅穹隆骨破坏依次为颞骨8例、顶骨3例、枕骨2例、额骨1例。CT发现早期骨破坏敏感性高。肿块变化可反映病变由活跃增殖到静止消退的病理过程。下丘脑－垂体轴侵犯影像表现晚于临床。CT可显著LCH不同阶段的肺损害。结论 LCH各脏器损害的影像学表现缺乏特异性。好发部位的典型CT表现可提示诊断,同时对辅助LCH分型、确定治疗方案、估计预后有一定价值。     

Langerhans cell histiocytosis with involvement of the pons: case report

Central nervous system involvement is uncommon in Langerhans cell histiocytosis. The suprasellar region is more frequently affected. There have been few reports of involvement of the brain parenchyma shown on CT or MRI. We present a case of involvement of the pons, showing marked contrast enhancement on MRI. Received: 17 June 1997 Accepted: 7 July 1997     

脊柱郎格汉斯细胞组织细胞增生症的影像表现及鉴别诊断

目的:探讨脊柱郎格汉斯细胞组织细胞增生症的影像学表现,进一步提高对本病的诊断水平。方法:回顾性分析43例经病理证实的脊柱嗜酸性肉芽肿的X线、CT和MRI表现。结果:35例(35/43)椎体呈楔形改变或椎体变扁,24例呈囊状破坏,7例显示软组织肿块,6例椎间隙变窄。27例患者行CT检查,CT主要表现为椎体不规则破坏和椎旁软组织肿块。15例行MRI检查,显示椎体破坏、信号异常和椎旁软组织肿块,8例软组织肿块在冠状面和矢状面呈"套袖状",相邻椎间盘信号无明显改变。结论:加深对骨嗜酸性肉芽肿病程及影像学表现的认识,能提高对该病的诊断水平,但正确诊断有赖于临床、病理和影像表现相结合。     

Evolving radiological features of hypothalamo-pituitary lesions in adult patients with Langerhans cell histiocytosis (LCH)

Langerhans cell histiocytosis (LCH) is a rare, systemic disease caused by monoclonal expansion of dendritic cells that shows a particular predilection for the hypothalamic–pituitary system (HPS). We studied the function (anterior and posterior pituitary hormonal secretion) and morphology using magnetic resonance imaging (MRI) of the HPS in 17 adult patients (seven males, median age 35 years, range 18–59 years) with multisystem LCH. We also evaluated the evolution of structural HPS abnormalities in relation to pituitary function and response to treatment in 12 of these patients during a median follow-up period of 3.75 years (range 1.5–10 years). Of the 17 patients, 14 (82%) had abnormal HPS imaging, and 12 (70%) had more than one area involved. Lack of the bright spot of the posterior pituitary lobe was typically found in all patients with the diagnosis of diabetes insipidus (DI). Eight patients (47%) had infundibular enlargement, six (35%) pituitary infiltration, four (24%) partially or completely empty sella, three (18%) hypothalamic involvement, and two (12%) infundibular atrophy. DI was found in 16 patients (94%) and anterior pituitary hormonal deficiency (APHD) in 10 patients (59%); two patients had single (12%) and 8 (47%) multiple APHD. During the follow-up period there was improvement of the initially demonstrated HPS pathology in seven (47%) patients, and five (33%) of them had received at least one form of treatment. APHD and DI persisted in all patients except in one in whom established gonadotrophin deficiency recovered. In summary, DI and APHD are very common in patients with multisystem LCH and are almost always associated with abnormal HPS imaging.     

Utility of spiral CAT scan in the follow-up of patients with pulmonary Langerhans cell histiocytosis

Pulmonary Langerhans cell histiocytosis (PLCH) is a rare disease that occurs almost exclusively in smokers, generally young adults between 20 and 40 years old. Prognostic biomarkers of the disease are lacking. This study describes the clinical-radiological features of a group of PLCH patients and applies a semi-quantitative CT score of the chest to verify the prognostic value of radiological findings in this disease. Clinical-radiological and immunological data from 12 Caucasian patients (6M, 7 smokers and 5 ex-smokers, mean age 36±8 years) were recorded at onset and after a follow-up period of 4 years. Application of the semi-quantitative CT score revealed a prevalently cystic pattern at onset and follow-up in the majority of the patients. Patients with a prevalently nodular pattern developed cystic lesions during follow-up. Interestingly, significant correlations were found between the extent of cystic lesions and DLCO values at onset (time 0: p<0.05) and at the end of follow-up (time 1, p<0.05) and with FEV1 values at time 0 (p<0.05) and time 1 (p<0.05). Patients with progressive functional decline were those with CT evidence of severe cystic alterations. The results suggest that high resolution CT scan of the chest is mandatory for characterizing PLCH patients at diagnosis and during follow-up. The proposed CT score of the chest showed potential prognostic value.     

Cerebral and brain stem Langerhans cell histiocytosis

Two patients with central nervous system manifestations of Langerhans cell histiocytosis, both with brain stem involvement, are reported. The onset of symptoms was at an age when the diagnosis might not have been considered.     

Multifocal Langerhans cell histiocytosis in a child

Langerhans Cell Histiocytosis (LCH) is a rare disorder sometimes called the disorder of the “monocyte-macrophage system”. This condition is characterized by the proliferation of abnormal Langerhans cells within different tissues. Skin rash is the typical early feature, but bony involvement is the second most common presentation. The most common complications are musculoskeletal disabilities, hearing problems, skin scarring, neuropsychiatric defects and most importantly, progression to secondary malignancies like leukemia. Early recognition and treatment can reduce morbidity and mortality. Herein, we report a case of a 10-year-old male presenting with a tender, palpable mass in the lower limb. On initial imaging, a lesion involving the diaphysis of the fibula was observed, raising concerns of Ewing sarcoma. Biopsy was planned along with whole-body MRI, revealing multifocal single system Langerhans cell histiocytosis. Given the rarity of fibular involvement in LCH, distinguishing between LCH and common malignancies within this age-group can be challenging. Through this case report, we hope to emphasize the importance of considering LCH in the differential diagnosis to ensure a timely diagnosis, fitting treatment and improvement in prognosis of the condition.     

Langerhans cell histiocytosis involving the corpus callosum and cerebellum: gadolinium-enhanced MRI

Langerhans cell histiocytosis is a systemic disorder consisting of abnormal histiocyte proliferation, in the form of focal deposits. Central nervous system involvement is most common in the hypothalamus, although other sites have been described, such as the cerebellum and the meninges. We present a case with presumed involvement of the corpus callosum and cerebellum, demonstrating gadolinium enhancement on MRI.