Block 10 Bone And Arthritis - Pt.3

The symptoms described in the question, including vague bony pains and a change in the fit of a hat, along with the observation of warm skin over a painful bony area, are consistent with Paget's disease. Paget's disease is a chronic bone disorder characterized by abnormal bone remodeling, leading to enlarged and weakened bones. The warm skin over a painful bony area suggests increased blood flow and inflammation, which are common in Paget's disease. Mucopolysaccharidosis, osteomyelitis, osteopetrosis, and septic arthritis do not typically present with these specific symptoms.

Hormone replacement therapy (HRT) could have potentially prevented the symptoms described in the question. The woman is experiencing pain in the upper portion of her back, which could be indicative of osteoporosis. HRT is known to help prevent bone loss and reduce the risk of fractures in post-menopausal women. The development of a "hump" back and a decrease in height are also common signs of osteoporosis. Therefore, if the woman had taken hormone replacement therapy, it could have potentially prevented or slowed down the progression of osteoporosis and its associated symptoms.

The presence of a fracture along with a mass arising from the femur and the radiologist's observation of a "Codman's" triangle on the x-ray suggests a malignant bone tumor. Osteosarcoma is the most common primary malignant bone tumor in young adults and often presents with pain, swelling, and fractures. Fibrous dysplasia and Paget's disease are benign conditions that do not typically cause fractures. Chondrosarcoma is a malignant tumor of cartilage, which would not be consistent with the findings described. Non-ossifying fibroma is a benign bone lesion that does not typically cause fractures.

The presence of a lytic lesion and the relief of pain with aspirin are characteristic features of osteoid osteoma. Osteoid osteoma is a benign bone tumor that commonly affects young individuals and is often associated with nocturnal pain that is relieved by nonsteroidal anti-inflammatory drugs (NSAIDs) such as aspirin. Ewing's sarcoma is a malignant bone tumor that typically presents with pain and swelling but does not respond to NSAIDs. Pott's disease refers to tuberculosis of the spine and would not present with a lytic lesion in the thigh. Fibrous cortical defect is a benign lesion that typically does not cause pain. Chronic osteomyelitis is an infection of the bone that would not present as a lytic lesion.

Osteoarthritis is characterized by the degeneration of the articular cartilage, which is the smooth, protective covering on the ends of bones in a joint. This degeneration leads to joint pain, stiffness, and limited mobility. Widening of the joint space, "swan neck" deformity of the fingers, fibrous ankylosis, and calcification of the meniscus are not essential pathological features of osteoarthritis.

Bone tumors are generally named after the tissue they produce because it provides a clear indication of the type of tumor and its characteristics. This naming convention helps in identifying and classifying different types of bone tumors based on the specific tissue they originate from. It allows for better understanding and communication among medical professionals, facilitating proper diagnosis and treatment planning for patients with bone tumors.

Patients with weakness of the extraocular muscles, diplopia, ptosis, and generalized muscle weakness that improves after administration of Tensilon likely have myasthenia gravis. Myasthenia gravis is an autoimmune disorder characterized by the presence of antibodies against the acetylcholine receptors at the neuromuscular junction. The thymus gland is often involved in the pathogenesis of myasthenia gravis, with approximately 70% of patients having thymic abnormalities such as thymic hyperplasia or thymoma. Therefore, the correct answer is Thymus gland.

Pannus formation is a characteristic pathologic feature of rheumatoid arthritis. Pannus refers to the abnormal tissue that forms in the synovial lining of joints affected by rheumatoid arthritis. This tissue is invasive and can erode cartilage and bone, leading to joint deformities and destruction. Pannus formation is a key factor in the progression of rheumatoid arthritis and contributes to the chronic inflammation and pain associated with the disease.

The most likely diagnosis in this case is Creutzfeldt Jakob Disease. This is supported by the progressive dementia and ataxia exhibited by the patient, as well as the presence of spongiform degeneration in the cerebral and cerebellar cortices at autopsy. The absence of cerebrovascular disease, neurofibrillary tangles, and foci of demyelination rules out other possibilities such as Alzheimer's Disease, Multi infarct Dementia, Huntington Disease, and Progressive Multifocal Leukoencephalopathy.

In patients with Alzheimer's Disease, the accumulation of amyloid beta peptide within CNS neurons is believed to be the cause of the pathogenesis. This accumulation leads to the formation of plaques, which disrupt the normal functioning of neurons and ultimately leads to cognitive decline and memory loss. The amyloid beta peptide is derived from the breakdown of a larger protein called amyloid precursor protein (APP). When APP is cleaved by enzymes, it produces amyloid beta peptide, which can then aggregate and form plaques. These plaques interfere with neuronal communication and contribute to the development and progression of Alzheimer's Disease.

The most likely diagnosis in this case is Progressive Multifocal Leukoencephalopathy (PML). PML is a rare viral infection of the brain caused by the JC virus. It primarily affects immunocompromised individuals, such as AIDS patients. The clinical presentation of multifocal neurologic signs and symptoms, along with the progressive deterioration of neurologic status and death within six months, is consistent with PML. The presence of discrete patches of demyelination scattered throughout the white matter, along with the identification of small numbers of oligodendrocytes and anaplastic astrocytes, further supports the diagnosis of PML.

A herring bone pattern is a characteristic histopathological feature of a typical fibrosarcoma. This pattern refers to the arrangement of tumor cells in a parallel or perpendicular orientation, resembling the pattern of a herringbone. This arrangement is often seen in fibrosarcomas and helps in distinguishing them from other types of tumors. The herring bone pattern is formed due to the interlacing of spindle-shaped tumor cells, which gives a distinct appearance under a microscope.

Avascular necrosis of bone occurs when there is a loss of blood supply to the bone, leading to bone cell death. This can result in the collapse of the bone and subsequent development of secondary osteoarthritis. Secondary osteoarthritis refers to the degeneration of the joint surface due to an underlying condition or injury. In the case of avascular necrosis, the damage to the bone can cause abnormal stress on the joint, leading to the development of osteoarthritis. This is a known complication of avascular necrosis, making it the correct answer.

Berger Disease, also known as IgA nephropathy, is characterized by the deposition of IgA antibodies in the mesangium of the glomeruli. This deposition leads to inflammation and damage to the kidneys. The elevation of serum C3, C4, and C1 is not typically seen in Berger Disease. IgG and anti GBM antibodies are not associated with this condition. Massive, diffuse crescent formation within the renal corpuscles is not a characteristic feature of Berger Disease. Antibodies to Shiga protein are not typically deposited in the glomeruli in this condition. Therefore, the correct answer is the mesangial deposition of IgA within the glomeruli.

The presentation of generalized CNS signs and symptoms, along with a lymphocytic pleocytosis in the CSF, suggests an inflammatory process in the central nervous system. The presence of perivascular lymphocytic infiltrates and microglial nodules is characteristic of an inflammatory response, indicating an infectious or autoimmune etiology. This finding is commonly seen in conditions such as viral encephalitis, autoimmune encephalitis, or CNS vasculitis. The other options, such as Lewy bodies (seen in Parkinson's disease), spongiform change (seen in prion diseases), neuritic plaques, and neurofibrillary tangles (seen in Alzheimer's disease), and demyelination (seen in multiple sclerosis), are not consistent with the clinical presentation and CSF findings described.

Patients with Goodpasture syndrome typically present with linear, continuous immunofluorescent pattern on renal biopsy. This pattern is characterized by linear deposition of immunoglobulin G (IgG) along the glomerular basement membrane. This finding is consistent with the pathophysiology of Goodpasture syndrome, which involves the formation of autoantibodies against the alpha-3 chain of type IV collagen in the basement membrane. The linear, continuous pattern is a key diagnostic feature of Goodpasture syndrome and helps differentiate it from other renal diseases with different immunofluorescent patterns.

The patient presented with a dilated pupil and paralysis of ocular movements on the right side, indicating dysfunction of the oculomotor nerve. The rapid deterioration in mental status and subsequent death suggest increased intracranial pressure. Autopsy findings of acute infarction in the right occipital lobe, as well as hemorrhages in the pons and midbrain, are consistent with herniation of the right uncus (uncal herniation). Uncal herniation occurs when the medial aspect of the temporal lobe herniates through the tentorial notch, compressing the oculomotor nerve and causing midbrain compression. This leads to pupillary dilation, paralysis of ocular movements, and subsequent brainstem hemorrhages.

Antibody mediated glomerular injury can be evaluated using immunofluorescence, which helps in visualizing the deposition of various components involved in the immune response. In this case, the correct answer is the deposition of immune complexes. Immune complexes are formed when antibodies bind to antigens, and their deposition in the glomerulus can lead to inflammation and injury. Immunofluorescence can detect the presence of these immune complexes and help in diagnosing antibody mediated glomerular injury.

Based on the presentation of a 9-year-old with bright red blood in her urine after a streptococcal infection, the most likely diagnosis is post-streptococcal glomerulonephritis (PSGN). PSGN is characterized by immune complex deposition in the glomeruli, resulting in inflammation and damage to the kidneys. The immunofluorescence pattern seen in PSGN typically shows granular deposits of complement component C3, immunoglobulin G (IgG), and immunoglobulin M (IgM) in the glomeruli. This pattern is consistent with the immune response seen in PSGN and helps confirm the diagnosis.

The correct answer is a trinucleotide repeat expansion mutation in the gene encoding huntingtin. This is because the patient's symptoms of involuntary jerky movements and progressive dementia are characteristic of Huntington's disease, which is caused by an abnormal expansion of the trinucleotide repeat in the huntingtin gene. This mutation leads to the production of a mutant huntingtin protein, which accumulates in the brain and causes neurodegeneration. The patient's family history of the same disorder further supports this diagnosis.

The presentation of decreased facial expression, shuffling gait, slowness of voluntary movements, rigidity, and a "pill-rolling" tremor is consistent with Parkinson's disease. The characteristic pathological findings in Parkinson's disease include the presence of Lewy bodies, which are abnormal aggregates of protein, and a decrease in the number of pigmented neurons in the substantia nigra, a region of the brain involved in movement control. Therefore, examination of this patient's brain at autopsy would reveal Lewy bodies and decreased numbers of pigmented neurons in the substantia nigra.

The correct answer suggests that without immediate intervention, the patient diagnosed with rapidly progressive glomerulonephritis, Type II, is at high risk of death within a few weeks to months. This implies that prompt action is necessary to prevent a fatal outcome.

Nodular glomerulosclerosis is the pathognomonic lesion for diabetes mellitus. It is characterized by the presence of nodules or Kimmelstiel-Wilson lesions in the glomeruli of the kidneys. These nodules are composed of thickened basement membranes and an accumulation of extracellular matrix material. This lesion is specific to diabetes mellitus and is not commonly seen in other renal diseases. Other options such as arteriolonephrosclerosis, wire loop lesion of the glomerulus, diffuse glomerulosclerosis, and crescentic glomerulonephritis are not specific to diabetes mellitus and are seen in other renal conditions.

The given answer suggests that the patient has decreased C3 levels, but normal C1 and C4 levels. This pattern is consistent with type II MPGN, which is characterized by immune complex deposition in the glomeruli. In type II MPGN, there is dysregulation of the alternative complement pathway, leading to decreased C3 levels. The normal C1 and C4 levels indicate that the classical complement pathway is not involved. This pattern of complement and immunoglobulin profile helps in confirming the diagnosis of type II MPGN.

The presence of hepatic fibrosis, portal hypertension, and splenomegaly in a patient with polycystic kidney disease suggests that the patient inherited the disease in an autosomal recessive manner. Autosomal recessive inheritance means that both copies of the gene responsible for the disease must be mutated in order for the disease to manifest. In this case, the patient likely received a mutated copy of the gene from both parents, leading to the development of polycystic kidney disease along with the associated complications.