The second child (Fig. ) of a 29-year-old woman was spontaneously born at 39 + 4 weeks of gestation after an unremarkable pregnancy. Birth weight was 3510 g (50th percentile), length 55 cm (75th percentile) and head circumference 33.5 cm (20th percentile). Apgar scores were 9/10/10. At the age of 3 months the girl was seen by a general pediatrician and consecutively referred to our hospital because of a recently developed mass on the left temple. The subcutaneous swelling was about 2 cm in diameter, non-moveable, not reddish or overheated and not painful. Furthermore, the mother reported recurrent fever spikes up to 38.5 °C without signs of inflammation for about 4 weeks. Defecation and drinking habits were adequate, vomiting was denied. However, a weight loss of 200 g within 3 weeks was obvious. In addition to a pale skin color and three pinhead-large livid subcutaneous lesions located on the trunk and the lower extremities, there was a left-sided rib hump situated at the level of Th6 to Th10; a secondary finding was oral candidiasis. Laboratory values on admission showed: hemoglobin 85 g/l, hematocrit 0.24 L/l, thrombocytes 380 G/l, lactate dehydrogenase 308 U/l, alpha-1-fetoprotein 225.6 ng/ml, beta-human chorionic gonadotropin < 1 mU/ml, c-reactive protein 10.13 mg/dl, interleukin-6 45.8 pg/ml and procalcitonin 0.31 ng/ml. To define the extent of disease, whole-body magnetic resonance imaging (MRI) (Fig. ) was performed. An intraosseous soft tissue lesion in the left sphenoid bone (diameter 18 × 20 mm), a big paravertebral thoracic tumor conglomerate (diameter 85 × 59 mm), multiple papules to nodules in the liver (7 mm), in both kidneys (6 mm) and lungs (3 × 4.3 mm) and in the pancreatic head (3.5 mm), as well as cutaneous (5 mm) and intraosseous lesions were found. A vertebra plana of Th9, together with infiltration of the adjacent Th8 and Th10, resulting in a kinking of the spinal column compromising the spinal canal and obliteration of nerve roots by soft tissue tumor mass was seen. Due to the lesion in the skull and the vertebra plana, Langerhans cell histiocytosis was one of the primary differential diagnoses. But the histology of one cutaneous lesion of the trunk did not confirm this diagnosis. Rapid deterioration with paraplegia prompted us to administer immunosuppressive treatment immediately. Based on the presumed diagnosis of a neoplasia of the Ewing / PNET group the patient was initially treated according to the Euro-Ewing protocol. After the third biopsy and histological examination two independent pathology centers confirmed the diagnosis of xanthosiderohistiocytosis, which is not well-defined and is regarded as a morphologic variant of xanthoma disseminatum – a type that most often occurs in adult patients with monoclonal gammopathy (Fig. ). In keeping with the established diagnosis, Langerhans cell histiocytosis-based chemotherapy treatment was administered. Following the arm for the high-risk group, the chemotherapy agents included prednisone, vinblastine, 6-mercaptopurine and methotrexate. With this therapy the primary tumor mass decreased. Clinical and radiologic examinations at the age of 3 years show partial remission after 1 year maintenance chemotherapy with puri-nethol and methotrexate.
The mother of a 1-year-old girl initially noticed reduced activity of the lower limbs which worsened over 8 days. On examination paraplegia, exaggerated deep tendon reflexes and positive Babinski sign were noted. No other neurological deficit found. Cutaneous lesions were absent. Magnetic resonance imaging (MRI) of the spine showed intradural extramedullary (IDEM) lesion at D6–D8 level suggestive of a benign nerve sheath tumor [].\nTotal excision of the tumor was done. Gross specimen included multiple bits yellowish-white, soft to firm. Histopathology showed tumor composed of sheets of spherical, ovoid, and spindle cells with vesicular bland nuclei. Many Touton giant cells were seen [].\nOn immunohistochemistry, the tumor cells were strongly positive for CD68 (histiocytic marker) and weakly for CD163 []. Cells were negative for s100 protein, CD1a, glial fibrillary acidic protein, epithelial membrane antigen. Special stain such as Zeil Neelson, Gomori methenamine silver, and periodic acid-Schiff stain were negative, thus ruling out mycobacteria and fungi as etiologic agents. Thus, a diagnosis of JXG was made. The infant showed full clinical recovery. The patient was managed with regular follow-up only and is doing well until date.