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Age / Sex : /
Age / Sex : 1/F
Chief complaint : Developmental delay
1) What is your impression?
Two weeks later, you can see the final diagnosis with a brief discussion of this case.
* Send Application Answers to Ja-Young Choi, MD ([email protected])
Courtesy: Jin Gyoon Park, MD, Chonnam national university hospital
Diagnosis: Langerhan's cell histiocytosis
Discussion
Findings:
1) Plain radiographs (skull lateral, pelvis ap, T-L spine lateral) - widespread osteolytic lesions in the skull, pelvis, and long - multiple vertebral collapses
2) Chest CT - multiple small nodules - ground glass opacity and infiltration in LUL
3) Brain MRI - widespread, moderately enhancing masses in skull
Differential diagnosis :
- Metastatic neuroblastoma
- Lymphoma/leukemia
- Polyostotic fibrous dysplasia
- Hyperparathyroidism with brown tumor
Discussion:
1) Introduction - Disorder of immune regulation rather than a neoplastic process - abnormal proliferation of reticuloendothelial cells, predominantly the histiocytes - Three entities : eosinphilic granuloma (60-80%), Hand-Schüller-Christian disease (15-40%), Letterer-Siwe disease (10%) : frequently overlap and may transform into each other
2) Hand-Schüller-Christian disease - systemic features of pain, anorexia, weight loss, malaise, lymphadenopathy, hepatosplenomegaly, and respiratory symptoms - classic triad (<10% of cases): exophthalmus, diabetes insipidus, and lytic skull lesions
3) Letterer-Siwe disease - acute, fulminating, sometimes fatal disease affecting children < 3 years of age - skeletal lesions are infrequent owing to the rapidicity of its progression - the most common bone change consists of lytic lesions, often only in the calvaria - uncommon long bone lesions appear aggressive, with irregular rarefaction of the diaphysisand surrounding laminated periosteal response closely simulating Ewing’s sarcoma
4) Radiographic findings - Polyostotic destructive foci in immature skeleton : particularly notable in the skull, pelvis, and long bones : wide spectrum of appearances, from a benign geographic form to permeative, cortex destroying malignant process : endosteal scalloping and beveling of the cortex produce the hole-within-hole appearance : confluence of individual lesions generates large map-like regions of radiolucency (geographic skull)
References:
1. Yochum and Rowe's Essentials of Skeletal Radiology, 3rd Ed. Lippincott Williams & Wilkins. 2005. 1533-1539.
2. Resnick. Diagnosis of bone and joint disorders, 3rd Ed. Elsevier Saunders. Philladelphia. 2002. 2259-2270.
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