Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 54-year-old Caucasian male had a witnessed collapse on the street. He was transported to the emergency department and subsequently pronounced dead. An unlimited autopsy examination was conducted under authorization of the coroner. Medical record review later revealed that the decedent had a history of alcohol abuse, chronic obstructive pulmonary disease, congestive heart failure, and chronic osteomyelitis treated by minocycline 100 mg twice daily. Autopsy revealed the cause of death to be ruptured gastroesophageal varices with nearly one liter of recent hemorrhage in the stomach and gastrointestinal tract. Other findings compatible with a history of alcoholism included hepatosplenomegaly, hepatic steatosis, and early bridging fibrosis. The decedent's thyroid was multinodular and enlarged at 50 gm. The thyroid gland, in its entirety, is shown below with serial sections made longitudinally through the gland capsule to reveal the underlying parenchyma.
...
PMID:Pathology Image of the Month: Black Thyroid. 2507 33

Malignant infantile osteopetrosis (MIOP), an autosomal-recessive disorder, is extremely rare, presenting early in life with extreme sclerosis of the skeleton and reduced activity of osteoclasts. It was first described by Albers Schonberg in 1904. Disease manifestations include compensatory extramedullary haematopoiesis at sites such as the liver and spleen, hepatosplenomegaly, anaemia and thrombocytopaenia. Neurological manifestations can also occur due to narrowing of osseous foramina resulting in visual impairment, hearing loss, facial palsy and hydrocephalus. In addition, growth retardation and recurrent infections requiring long-term antibiotic use are common. The incidence of MIOP is 1/2 000 000 and if untreated, then it has a fatal outcome, with the majority of cases occurring within the first 5 years of life. At present, the only potentially curative option is a haematopoietic stem cell transplant. We present a 21-year-old woman, diagnosed with malignant infantile osteopetrosis, due to a mutation in the T-cell immune regulator 1 gene when aged 6 weeks, presenting with chronic osteomyelitis of her left mandible. As malignant infantile osteopetrosis has a high mortality in infancy, we felt it prudent to report this rare case in a patient surviving to adulthood.
 ...
PMID:Osteomyelitis of the mandible secondary to malignant infantile osteopetrosis in an adult. 3089 50