1. 48 year old women with history of seizures has presented with gross haematuria & left flank pain.Abdominal CT scan reveals-left perinephric hematoma with 3cm angiomyolipoma along with multiple right renal angiomyolipomas measuring from 1.5-6.5 cm. The most likely diagnosis is:

                  a. Tuberous sclerosis

                  b. Von Hippel Landau syndrome

                  c. Familial angiolipomatosis

                  d. ADPKD

Answer is A : tuberous sclerosis

References: chapter 596.2 NELSON and

http://emedicine.medscape.com/article/376848-overview#a20

MORE DETAILS ABOUT TUBEROUS SCLEROSIS FROM

RADIOLOGICAL PERSPECTIVE

1. The most common neurologic manifestations of Tuberous

Sclerosis consist of seizures, cognitive impairment, and behavioral

abnormalities including autism. The characteristic brain lesion is a

cortical tuber. Tubers are located in the convolutions of the cerebral

hemispheres and are also present in the subependymal region,

where they undergo calcification and project into the ventricular

cavity, producing a candle-dripping appearance. Generally, the

greater the number of tubers, the more neurologically impaired is

the patient.

2. TS may present during infancy with infantile spasms and a

hypsarrhythmic EEG pattern.

3. The seizures may be difficult to control and, at a later age, they may

develop into myoclonic epilepsy, infantile spasms associated with TS

are treated with vigabatrin (rather than adrenocorticotropic

hormone) with good results.

4. Angiomyolipomas are usually well-marginated, cortical

heterogeneous tumors with predominantly fatty attenuation; rarely,

higher attenuation is seen in patients who have tumors with

minimal fat content. The average attenuation depends on the

relative proportions of fat and other soft tissue in the

angiomyolipoma. In small masses, fat may be averaged out with

region-of-interest (ROI) circles, and pixel maps may be useful.

Attenuations of less than –20 Hounsfield units (HU) are widely

accepted as confirming the presence of fat; this finding virtually

confirms the diagnosis of angiomyolipoma

5. Histopathology of angiomyolipoma

o No true capsule

o Commonly bleed

o Tumor composed of fat, smooth muscle, aggregates of thick-walled blood

vessels

6. Types of angiomyolipoma

o Isolated angiomyolipoma is most common (80%)

1. Usually solitary

2. Unilateral (80% on right side)

3. Not associated with tuberous sclerosis

4. Mean age of incidence: 40s

5. Much more common in females

o Angiomyolipoma associated with tuberous sclerosis (in 20%)

1. Angiomyolipoma occurs in 80% of patients with tuberous

sclerosis

· Commonly large

· Usually bilateral

· Usually multiple

2. May be only evidence of tuberous sclerosis

3. Mean age of incidence: teens

4. Equal incidence in males and females

7. Signs and symptoms

o Small lesions are asymptomatic (60%)

o Acute flank / abdominal pain (due to hemorrhage) most common

presenting symptom

o Hematuria (40%)

o Palpable mass (47%)

o Shock (due to massive retroperitoneal hemorrhage)

8. Imaging findings

o Mostly small lesions <5 cm in diameter

o Many have a large exophytic component (25%)

o Calcifications not common (6%)

o Plain film findings

1. Mass of fat lucency is lesion is large enough

o CT findings

1. Well-marginated, cortical-based, heterogeneous tumor

predominantly of fat density (<-20 HU)

2. Variable enhancement (smooth muscle, vessels)

       2. Most effective management in medically intractable seizures?

                a. Ketotic diet

                b. Vagus nerve stimulation

                c. Deep brain stimulationn

               d. Surgery

Answer: D : surgery

Explaination:

The most common surgical procedure for patients with temporal lobe epilepsy

involves resection of the anteromedial temporal lobe (temporal lobectomy) or a

more limited removal of the underlying hippocampus and amygdala

(amygdalohippocampectomy).

· Focal seizures arising from extratemporal regions may be abolished by a focal

neocortical resection with precise removal of an identified lesion

(lesionectomy). When the cortical region cannot be removed, multiple subpial

transection, which disrupts intracortical connections, is sometimes used to

prevent seizure spread. Hemispherectomy or multilobar resection is useful for

some patients with severe seizures due to hemispheric abnormalities such as

hemimegalencephaly or other dysplastic abnormalities, and corpus callosotomy

has been shown to be effective for disabling tonic or atonic seizures, usually

when they are part of a mixed-seizure syndrome (e.g., Lennox-Gastaut

syndrome).

· Presurgical evaluation is designed to identify the functional and structural basis

of the patient's seizure disorder. Inpatient video-EEG monitoring is used to

define the anatomic location of the seizure focus and to correlate the abnormal

electrophysiologic activity with behavioral manifestations of the seizure.

Routine scalp or scalp-sphenoidal recordings are usually sufficient for

localization, and advances in neuroimaging have made the use of invasive

electrophysiologic monitoring such as implanted depth electrodes or subdural

electrodes less common. A high-resolution MRI scan is routinely used to identify

structural lesions, and this is sometimes augmented with MEG. Functional

imaging studies such as SPECT and PET are adjunctive tests that may help verify

the localization of an apparent epileptogenic region. Once the presumed location

of the seizure onset is identified, additional studies, including

neuropsychological testing and the intracarotid amobarbital test (Wada test)

may be used to assess language and memory localization and to determine the

possible functional consequences of surgical removal of the epileptogenic

region. In some cases, the exact extent of the resection to be undertaken is

determined by performing cortical mapping at the time of the surgical

procedure, allowing for a tailored resection. This involves electrocorticographic

recordings made with electrodes on the surface of the brain to identify the

extent of epileptiform disturbances. If the region to be resected is within or near

brain regions suspected of having sensorimotor or language function, electrical

cortical stimulation mapping is performed on the awake patient to determine

the function of cortical regions in question in order to avoid resection of socalled

eloquent cortex and thereby minimize postsurgical deficits.

· Advances in presurgical evaluation and microsurgical techniques have led

to a steady increase in the success of epilepsy surgery. Clinically significant

complications of surgery are <5%, and the use of functional mapping

procedures has markedly reduced the neurologic sequelae due to removal

or sectioning of brain tissue.

       3. Alzhiemers lobes affected?

               a. Frontal and temporal lobe

               b. Temporal and parietal lobe

               c. Parietal and occipital lobe

               d. Parietal and frontal lobe

Answer is B

Reference: Harrison 18th edition ,chapter 371 dementia

AD most often presents with an insidious onset of memory loss followed by a slowly

progressive dementia over several years. Pathologically, atrophy is distributed

throughout the medial temporal lobes, as well as lateral and medial parietal

lobes and lateral frontal cortex.

The main purpose of imaging is to exclude other disorders, such as primary and

secondary neoplasms, vascular dementia, diffuse white matter disease, and NPH; it

also helps to distinguish AD from other degenerative disorders with distinctive

imaging patterns such as FTD or CJD. Functional imaging studies in AD reveal

hypoperfusion or hypometabolism in the posterior temporal-parietal cortex.

       4. Which of the following statements is correct about raised ESR in tuberculosis?

               a. Its increased due to large RBC

               b. Its increased due to increase in immunoglobulins

               c. It is used to determine response for treatment

              d. It is an incidental finding. 

Answer: B: It’s increased due to increase in immunoglobulins

Reference:

1. Wintrobe hematology 11th edition page 60

2. http://emedicine.medscape.com/article/2085201-overview#a30

The erythrocyte sedimentation rate (ESR) is a common but nonspecific test that is

often used as an indicator of active disease.

Significant specific indications for ESR testing include the following:

· Diagnosis and monitoring of giant cell arteritis

· Diagnosis and monitoring of polymyalgia rheumatica

· Monitoring of rheumatoid arthritis

· Monitoring of systemic lupus Erythematosus

ESR reflects the tendency of red blood cells to settle more rapidly in the face of

some disease states, usually because of increases in plasma fibrinogen,

immunoglobulins, and other acute-phase reaction proteins. In addition, changes

in red cell shape or numbers may affect the ESR.

1. Sickle cells and polycythemia and spherocytosis tend to decrease the ESR,

whereas anemia may increase it.

2. Factors that increase ESR

· Old age

· Female

· Pregnancy

· Anemia

· Red blood cell abnormalities

· Macrocytosis

· Technical factors

· Dilutional problem

· Increased temperature of specimen

· Tilted ESR tube

· Elevated fibrinogen level

· Infection

· Inflammation

· Malignancy

3. ESR also increases with age in otherwise healthy people (although it tends

to fall in adults older than the age of 75 and tends to be higher in women.

4. People with liver diseases, carcinomas, or other serious diseases may have

a normal to low ESR because of an inability to produce the acute-phase

proteins.

The ESR is measured by the Westergren or Wintrobe method or by a modification of

these tests. Both are measured in millimeters per hour, but the normal values for

each method vary because of differences in tube length and shape. Both methods

require

correction for patient anemia. Several technical variations to the method of ESR

determination have been introduced, including micromethods, sedimentation at a

45-degree angle, and the zeta sedimentation rate. The zeta sedimentation rate

measures

erythrocyte packing in four 45-second cycles of dispersion and compaction in capillary

tubes. This requires a special instrument, the ZetafugeThe rate at which red blood cells

settle out when anticoagulated whole blood is allowed to stand is known as the

erythrocyte sedimentation rate.

The ESR is affected by the concentrations of immunoglobulins and acute phase

proteins (fibrinogen, C-reactive protein, alpha-1 antitrypsin, haptoglobin), and is a

sensitive, but nonspecific, indicator of inflammation and tissue damage

Conditions that may be associated with a highly elevated ESR (>100 mm/hr)

include the following:

· Hypersensitivity vasculitis

· Giant cell arteritis

· Waldenström macroglobulinemia

· Polymyalgia rheumatica

· Metastatic cancer

· Chronic infection

· Hyperfibrogenemia