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.
A 15-year-old male presented with pain in the nape of the neck and gradually progressive ascending weakness of all four limbs along with bladder and bowel involvement for 3 years. On examination, tone was increased in all four limbs with 4/5 power in bilateral upper limbs and 2/5 power in both lower limbs, along with exaggerated deep tendon reflexes in all four limbs. Superficial abdominal reflexes were absent and, bilateral planters were extensor. He had 70–80% sensory loss below T4 level. His routine laboratory studies including hematological and biochemical parameters were within normal limits.\nComputerised tomography scan of the cervical spine revealed a large osseo-destructive lesion involving body of C5and C6 vertebra which was causing spinal canal compromise [Figure and ]. The lesion was involving surrounding structures with extension into the submuscular plane anteriorly. On magnetic resonance imaging (MRI) evaluation, the mass was isointense on T1 and T2 weighted sequences with minimal contrast enhancement. It was causing distrucation of C5 and C6 vertebra body with compression of thecal sac [Figure –].\nUsing anterior cervical approach, the tumor resection was performed. Intra-operatively, the tumor involved whole of the C5 and C6 vertebral body. There was a soft tissue component of the tumor, which was extending into the submuscular plane. Inside the capsule, the tumor consisted of cheesy material that was minimally vascular. Total tumor excision was done with tricorticate iliac crest bone grafting and plate and screw fixation between C4 and C7 vertebral bodies.\nMicroscopic examination showed spindle cells disposed of in intersecting fascicles intermingled with mononuclear xanthomatous cells displaying round nuclei with dense chromatin inconspicuous nucleoli and pale eosinophilic finely vacuolated chromatin. Spindle cells display bland appearing nuclear chromatin and eosinophilic cytoplasm. Occasional cells displayed nuclear atypia and enlargement. Scattered neutrophils were seen admixed with these cells. Focal areas of calcification and occasional osteoclasts like giant cells were also seen. Interspersed areas showed degenerated bony trabeculae and cartilage [Figure and ].\nPostoperatively, patient had significant improvement in neck pain and spasticity in all four limbs. At follow-up of 6 months, he was doing well.