Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019621 (Langerhans cell histiocytosis)
 3,250 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Erdheim-Chester syndrome is a rare multisystem disease in which progressive xanthogranulomatous infiltration of several tissues are seen. Knee and leg pain are the most common symptoms and bilateral symmetric sclerosis of metaphyseal region of long bones of the lower extremity is typical. Histologically, it resembles Langerhans cell histiocytosis (LCH). However, it is still a matter of discussion whether Erdheim-Chester syndrome is a distinct entity or a type of LCH. The present case is a 46-yr-old man, that presented with signs and symptoms of diabetes insipidus and hypogonadotropic hypogonadism simultaneously. X-rays and bone scintigraphy showed typical and pathogonomic findings of Erdheim-Chester syndrome. Bone biopsy and immunohistochemical staining strongly support the diagnosis of non-Langerhans cell histiocytosis.
 ...
PMID:Erdheim-Chester syndrome, presenting as hypogonadotropic hypogonadism and diabetes insipidus. 1224 Sep 6

We report a previously healthy 4-month-old who presented to the hospital with leg pain and swelling and no history of trauma. Radiographs demonstrated a comminuted left femur fracture. Given the concern for child abuse, skeletal survey was performed and revealed four vertebral compression deformities. Although abuse was suspected, the possibility of a lytic lesion associated with the femur fracture and multiple spinal abnormalities raised the possibility of an underlying process such as Langerhans cell histiocytosis. Subsequently 18F-NaF positron emission tomographic (PET) scintigraphy revealed increased tracer activity in the ischium, and MRI confirmed an ischial apophyseal fracture. Pelvic fractures, particularly ischial fractures, are extremely rare in the setting of child abuse. This case report describes the multimodality imaging findings of an ischial fracture in an abused infant.
...
PMID:Ischial apophyseal fracture in an abused infant. 2468 21