giovedì 3 novembre 2005

Tuberous sclerosis







Findings

There are enhancing subependymal nodules (Figure 3) with the largest having degenerated into a subependymal giant cell astrocytoma (Figure 1 and Figure 2). There are multiple cortical/subcortical tubers seen best on FLAIR images (Figure 4).


Diagnosis: Tuberous sclerosis


Tuberous sclerosis is an autosomal dominant, inherited disorder that affects cell differentiation, proliferation, and migration. The classic clinical triad includes epilepsy, mental retardation, and cutaneous skin lesions. Almost all organ systems are affected including cutaneous, neurologic, ocular, dental, pulmonary, and cardiac.

Diagnostic criteria include major and minor features. Definite diagnosis requires at least 2 major features or 1 major with 2 minors.

Major features include
- facial angiofibromas
- shagreen patches
- ash-leaf spots
- subependymal nodules
- subependymal giant cell astrocytoma
- cardiac rhabdomyoma
- renal angiomyolipoma
- lymphangioleiomyomatosis
- retinal hamartoma
- macules

Minor features include
- dental pits
- renal cysts
- rectal hamartoma polyps
- cerebral white matter migration lines
- gingival fibromas
- confetti skin lesions

Characteristic neurologic findings are present in over 95% of patients diagnosed with tuberous sclerosis. The classic neurologic features are calcified subependymal nodules, subependymal giant cell astrocytomas, cortical and subcortical tubers, and white matter lesions along lines of neuronal migration. Subependymal nodules can progress into subependymal giant cell astrocytomas that can result in obstructive hydrocephalus at the foramen of Monro. Subependymal nodules and subependymal giant cell astrocytomas usually enhance on contrast studies and are often found along the caudothalamic groove. Periodic brain CT or MRI with contrast can be performed in asymptomatic patients to evaluate for development or progression of lesions that may eventually result in obstructive hydrocephalus. MRI fluid-attenuated inversion recovery (FLAIR) sequences are better for evaluation of subcortical and cortical tubers.

Other imaging studies to consider include ultrasound to evaluate for renal angiomyolipomas or renal cysts, as well as cardiac CT or echocardiogram to evaluate for rhabdomyoma.

Treatment mainly focuses on minimizing the patient’s seizure activity by using anti-epileptic medications and a ketogenic diet.

1 commento:

  1. HOW I GOT CURED OF HERPES VIRUS.

    Hello everyone out there, i am here to give my testimony about a herbalist called Dr Imoloa. i was infected with herpes simplex virus 2 in  2013, i went to many hospitals for cure but there was no solution, so i was thinking on how  i can get a solution out so that my body can be okay. one day i was in the pool side browsing and thinking of where i can get a solution. i go through many website were i saw so many testimonies about dr imoloa on how he cured them. i did not believe but i decided to give him a try, i contacted him and he prepared the herpes for me which i received through DHL courier service. i took it for two weeks after then he instructed me to go for check up, after the test i was confirmed herpes negative. am so free and happy. so, if you have problem or you are infected with any disease kindly contact him on email                      drimolaherbalmademedicine@gmail.com. or  / whatssapp --+2347081986098.
    This testimony serve as an expression of my gratitude. he also have
     herbal cure for, FEVER, BODY PAIN, DIARRHOEA, MOUTH ULCER, MOUTH CANCER FATIGUE, MUSCLE ACHES, LUPUS, SKIN CANCER, PENILE CANCER,  BREAST CANCER, PANCREATIC CANCER, CHRONIC KIDNEY DISEASE, VAGINAL CANCER, CERVICAL CANCER, DISEASE, JOINT PAIN, POLIO DISEASE,  PARKINSON'S DISEASE, ALZHEIMER'S DISEASE, BULIMIA DISEASE,   INFLAMMATORY JOINT DISEASE CYSTIC FIBROSIS,  SCHIZOPHRENIA, CORNEAL ULCER, EPILEPSY, FETAL ALCOHOL  SPECTRUM, LICHEN PLANUS, COLD SORE, SHINGLES, CANCER, HEPATITIS A, B.  DIABETES 1/2, HIV/AIDS, CHRONIC RESPIRATORY DISEASE,  CARDIOVASCULAR DISEASE,  NEOPLASMS, MENTAL AND BEHAVIOURAL DISORDER, CHLAMYDIA, ZIKA VIRUS, EMPHYSEMA, TUBERCULOSIS LOW SPERM COUNT, ENZYMA, DRY COUGH, ARTHRITIS, LEUKAEMIA, LYME DISEASE, ASTHMA, IMPOTENCE, BARENESS/INFERTILITY, WEAK ERECTION, PENIS ENLARGEMENT. AND SO ON.

    RispondiElimina