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CONGENITAL DEFECTS
HYDROCEPHALUS
ABNORMAL ACCUMULATION OF FLUID (CFS) IN THE BRAIN. IF THE CIRCULATION OF CFSIN THE BRAIN OR SPINAL CORD IS IMPAIRED, IT ACCUMULATES UNDER PRESSURE IN THE VENTRICLES OF THE BRAIN. TO RELIEVE PRESSURE ON THE BRAIN, A CATHETER (SHUNT) CAN BE PLACED FROM THE VENTRICL EOF THE BRAIN INTO THE PERITONEAL SPACE (VNTRICULOPERITONEAL SHUNT) OR RIGHT ATRIUM OF THE HEART SO THAT THE SFS IS CONTINOUSLY DRAINED FROM THE BRAIN. HYDROCEPHALUS ALSO CAN OCCUR IN ADULTS AS A RESULT OF TUMORS AND INFECTIONS.
SPINA BIFIDA
CONGENITAL DEFECTS IN THE LUMBAR SPINAL COLUMN CUASED BY IMPERFECT UNION OF VERTEBRAL PARTS (NEURAL TUBE DEFECT). IN SPINA BIFIDA ACCULTA THE VERTEBRAL DEFECT IS COVERED OVER WITH SKIN AND EVIDENT ONLY ON X-RAY OR OTHER IMAGING EXAMINATION. SPINA BIFIDA CYSTICA IS MORE SEVERE FOR, WITH CYST-LIKE PROTRUSIONS. IN MENINGOCELE, THE MENINGES PROTRUDES TO THE OUTSIDE OF THE BODY, AND IN MYELOMENINGOCELE (MENINGOMYELOCELE), BOTH THE SPINAL CORD AND MENINGES PROTRUDE. THE ETIOLOGY OF NEURAL TUBE DEFECTS IS UNKNOWN. DEFECTS ORIGINATE IN THE EARLY WEEKS OF PREGNANCY AS THE SPINAL CORD AND VERTEBRAE DEVELOP. PRENATAL DIAGNOSIS IS HELPED BY IMAGING METHODS AND TESTING MATERNAL BLOOD SAMPLES FOR ALPHAFETOPROTEIN.
DEGENERATIVE, MOVEMENT, AND SEIZURE DISORDERS
ALZHEIMER DISEASE (AD)
BRIAN DISORDER MARKED BY GRADUAL AND PROGRESSIVE METNAL DETERIORATION (DEMENTIA) WITH PERSONALITY CHANGES AND IMPAIRMENT OF DAILY FUNCTIONING. CHARACTERISTICS OF AD INCLUDE CONFUSION, MEMORY FAILURE, DISORIENTATION, RESTLESSNESS, AND SPEECH DISTURBANCES. ANXIETY, DEPRESSION AND EMOTIONAL DISTURBANCES CAN OCCUR AS WELL. THE DISEASE SOMETIMES BEGINS IN MIDDLE LIFE WITH SLIGHT DEFECTS IM MEMORY AND BEHAVIOR , BUT CAN WORSEN AFTER THE AGE OF 70. ON AUTOPSY THERE IS ATROPHY OF THE CEREBRAL CORTEX AND WIDENING OF THE CEREBRAL SULCI, ESPECIALLY IN THE FRONTAL AND TEMPORAL REGIONS. MICROSCOPIC EXAMNATION SHOWS SENILE PLAQUES RESULTING FROM DEGENERATION OF NEURONS AND NEUROFIBRILLARY TANGLES (BUNDLES OF BIBRILS IN THE CYTOPLASM OF A NEURON) IN THE CEREBRAL CORTEX. DEPOSITS OF AMYLOID (A PROTEIN) OCCUR IN NEUROFIRIALLRY TANGLES, SENILE PLAQUES, AND BLOOD VESSELS. THE CAUSE OF AD REMAINS UNKNOWN, ALTHOUGH GENETIC FACTORS MAY PLAY A ROLE. A MUTATION ON CHROMOSOME 14 HAS BEEN LINKED TO FAMILIAL CASES. THERE IS AS YET NO EFFECTIVE TREATMENT.
AMYOTROPHIC LATERAL SCLEROSIS (ALS)
DEGENERATIVE DISORDER OF MOTOR NEURONS IN THE SPINAL CORD AND BRIANSTEM. ALS PRESENTS IN ADULTHOOD. SYMPTOMS ARE WEAKENSS AND ATROPHY OF MUSCLES IN THE HANDS, FOREARMS, AND LEGS; DIFFICULTY IN SWALLOWING AND TALKING AND DYSPNEA DEVELOP AS THE THROAT AND RESPIRATORY MUSCLES BECOME AFFECTED. ETIOLOGY (CAUSE) AND CURE FOR ALS BOTH ARE UNKNOWN. A FAMOUS BASEBALL PLAYER, LOU GEHRIG, BECAME A VICTIM OF THS DISEASE IN THE MID-1900S, SO THE CONDITION WAS KNOWN AS LOU GEHRIG'S DISEASE.
EPILEPSY
CHRONIC BRAIN DISORDER CHARACTERIZED BY RECURRENT SEIZURE ACTIVITY. A SEIZURE IS AN ABNORMAL, SUDDEN EXCESSIVE DISCHARGE OF ELECTRICAL ACTIVITY WITHIN THE BRIAN. SEIZURES ARE OFTEN SYMPTOMS OF UNDERLYING BRAIN PATHOLOGIC CONDITIONS, SUCH AS BRAIN TUMORS, MENINGITIS, VASCULAR DISEASE, OR SCAR TISSUE FROM A HEAD INJURY. TONICCLONIC SEIZURES (GRAND MAL OR ICTAL EVENTS) ARE CHARACTERIZED BY A SUDDEN LOSS OF CONSCIOUSNESS, FALLING DOWN, AND THEN TONIC CONTRACTIONS (STIFFENING OF MUSCLES) FOLLOWED BY CLONIC CONTRACTIONS (TWITCHING AND JERKING MOVEMENTS OF THE LIMBS). THESE CONVULTIONS OFTEN ARE PRECEDED BY AN AURA, WHICH IS PECULIAR SENSATION EXPERIENCED BY THE AFFECTED PERSON BEFORE ONSET OF A SEIZURE. DIZZINESS, NUMBNESS, AND VISUAL OR OLFACTORY (SENSE OF SMELL) DISTURBANCES ARE EXAMPLES OF AN AURA. ABSENCE SEIZURES (PETIT MAL SEIZURES) ARE A MINOR FORM OF SEIZURE CONSISTIN OF MOMENTARY CLOUDING OF CONSCIOUSNESS AND LOSS OF AWARNESS OF THE PERSON'S SURROUNDINGS. DRUG THERAPY (ANTICONVULSANTS) IS USED FOR CONTROL OF EPILEPTIC SEZURES. AFTER SEIZURES, THRE MAY BE NEUROLOGIC SYMPTOMS SUCH AS WEAKNESS CALLED POSTICAL EVENTS. THE TERM EPILEPSY COMES FROM THE GREEK EPILEPSIS, MEANING A LAYING HOLD OF. THE GREEKS THOUGHT A VICTIM OF A SEIZURE WAS LAID HOLD OF BY SOME MYSTERIOUS FORCE.
HUNTINGTON DISEASE
HEREDITARY DISORDER MARKED BY DEGENERATIVE CHANGES IN THE CEREBRUM LEADING TO ABRUPT INVOLUNTARY MOVEMENTS AND MENTAL DETERIORATION. THIS CONDITION TYPICALLY BEGINS IN ADULTHOOD AND RESULTS IN PERSONALITY CHANGES, ALONG WITH CHOREIC (MEANING DANCE-LIKE) MOVEMENTS (UNCONTROLLABLE, INRREGULAR, JERKING MOVEMENTS OF THE ARMS AND LEGS AND FACIAL GRIMACING). THE GENETIC DEFECT IN PATIENTS WITH HUNTINGTON DISEASE IS LOCATED ON CHROMOSOME 4. PATIENTS CAN BE TESTED FOR THE GENE; HOWEVER, NO CURE EXISTS, AND MANAGEMENT IS SYMPTOMATIC.
MULTIPLE SCLEROSIS (MS)
DESTRUCTION OF THE MYELIN SHEATH ON NEURONS IN THE CNS AND ITS REPLACEMENT BY PLAQUES OF SCLREROTIC (HARD) TISSUE. ONE OF THE LEADING CAUSES OF NEUROLOGIC DISABILITY IN PERSONS 20-40 YEARS OF AGE. MS IS A CHRONIC DISEASE OFTEN MARKED BY LONG PERIODS OF STABILITY (REMISSION) AND WORSENING (RELAPSE). DEMYELINATION (LOSS OF MYELIN INSULATION) PREVENTS THE CONDUCTION OF NERVE IMPULSES THROUGH THE AXON AND CAUSES PARESTHESIAS, MUSLCE WEAKNESS, UNSTEADY GAIT (MANNER OF WALKING), AND PARALYSIS. THERE MAY BE VISUAL (BLURRED AND DOUBLE VISION) AND SPEECH DISTURBANCES AS WELL. AREAS OF SCARRED MYELIN (PLAQUES CAN BE SEEN ON MRI SCANS OF THE BRAIN. ETIOLOGY IS UNKNOWN BUT PROBABLY INVOLVES AN AUTOIMMUNE DISEASE OF LYMPHOCYTES REACTING AGAINST MYELIN. DISEASE-MODIFYING DRUGS (DMDs) CAN SLOW THE PROGRESSION OF MS BY PREVENTING THE IMMUNE SYSTEM FROM DESTROYING MYELIN.
MYASTHENIA GRAVIS (MG)
AUTOIMMUNE NEUROMUSCULAR DISORDER CHARACTERIZED BY WEAKNESS (-ASTHENIA) OF VOLUNTARY MUSCLES (ATTACHED TO BONES). MYASTHENIA GRAVIS IS A CHRONIC AUTOIMMUNE DISORDER. ANTIBODIES BLOCK THE ABILITY OF ACETYLCHOLINE (NEUROTRANSMITTER) TO TRANSMIT THE NERVOUS IMPULSE FROM NERVE TO MUSCLE CELL. ONSET OF SYMPTOMS USUALLY IS GRADUAL, WITH PTOSIS OF THE UPPER EYELID, DOUBLE VISION (DILOPIA), AND FACIAL WEAKNESS. THERAPY TO REVERSE SYMPTOMS INCLUDES ANTICHOLINESTERASE DRUGS, WHICH INHIBIT THE ENZYME THAT BREAKS DOWN ACETYLOCHOLINE. CORTICOSTEROIDS (PREDNISONE) AND IMMUNOSUPPRESSIVE DRUGS (AZATHIOPRINE, METHOTREXATE, AND CYCLOPHOSPHAMIDE)ARE ALSO USED IN TREATMENT. THYMECTOMY IS ALSO A METHOD OF TREATMENT AND IS BENEFICIAL TO MANY PATIENTS.
PALSY
PARALYSIS (PARTIAL OR COMPLETE LOSS OF MOTOR FUNCTION). CEREBAL PALSY IS PARTIAL PARALYSIS AND LACK OF MUSCULAR COORDINATION CAUSED BY LOSS OF OXYGEN (HYPOXIA) OR BLOOD FLOW TO THE CEREBRUM DURING PREGNANCYOR IN THE PERINATAL PERIOD. BELLY PALSY (OR BELL'S PALSY) IS PARALYSIS ON ONE SIDE OF THE FACE. THE LIKELY CAUSE IS A VIRAL INFECTION, AND THERAPY IS DIRECTED AGAINS THE VIRUS (ANTIVIRAL DRUGS) AND NERVE SWELLING.
PARKINSONS DISEASE (PARKINSONISM
DEGENERATION OF NEURONS IN THE BASAL GANGLIA , ACCURRING IN LATER LIFE AND LEADING TO TREMORS, WEAKNESS OF MUSCLES, AND SLOWNESS OF MOVEMENT. THIS SLOWLY PROGRESSIVE CONDITION IS CAUSED BY A DEFICIENCY OF DOPAMINE (A NEUROTRANSMITTER) MADE BY CELLS IN THE BASAL GANGLIA. MOTOR DISTURBANCES INCLUDE STOOPED POSTURE, SHUFFLING GAIT, MUSCLE STIFFNESS (RIGIDITY), DYSKINESIAS, AND OFTEN A TREMOR OF THE HANDS. THERAPY WITH DRUGS SUCH AS LEVODOPA PLUS CARBIDOPA (SINEMET) TO INCREASE DOPAMINE LEVELS IN THE BRAIN IS PALLIATIVE (RELIEVING SYMPTOMS BUT NOT CURATIVE). IMPLANTATION OF FETAL BRAIN TISSUE CONTAINING DOPAMINE-PRODUCING CELLS IS AN EXPERIMENTAL TREATMENT BUT HAS PRODUCED UNCERTAIN RESULTS.
TOURETTE SYNDROME
INVOLUNTARY, SPASMODIC, TWITCHING MOVEMENTS; UNCONTROLLABLE VOCAL SOUNDS; AND INAPPROPRIATE WORDS.
INFECIOUS DISORDERS
HERPES ZOSTER (SHINGLES)
VIRAL INFECTION AFFECTING PERIPHERAL NERVES. BLISTERS AND PAIN SPREAD ALONG PERIPHERAL NERVES AND ARE CAUSED BY INFLAMMATION DUE TO A HERPES VIRUS (HERPES ZOSTER), THE SAME VIRUS THAT CAUSES CHICKENPOX (VIRACELLA). REACTIVATION OF THE CHICKENPOX VIRUS (HERPES VARICELLA-ZOSTER), WHICH REMAINDED IN THE BODY AFTER THE PERSON HAD CHCKENPOX, OCCURS. PAINFUL VESICULAR SKIN ERUPTIONS (BLISTERS FORM) FOLLOW THEUNDERLYING ROUTE OF CRANIAL OR SPINAL NERVES. THE SKIN INNERVATION BY SPINAL OR CRANIAL NERVES IS CALLED A DERMATOME.
MENINGITIS
INFLAMMATION OF THE MENINGES; LEPTOMENINGITIS. THIS CONDITION CAN BE CAUSED BY BACTERIA (PYOGENIC MENINGITIS) OR VIRUSES (ASEPTIC OR VIRAL MENINGITIS). SIGNS AND SYMPTOMS ARE FEVER AND SIGNS OF MENINGEAL IRRITATION, SUCH AS HEADACHE, PHOTOPHOBIA (SENSITIVITY TO LIGHT), AND A STIFF NECK. LUMBAR PUNCTURES ARE PREFORMED TO EXAMINE CSF. PHYSICIANS USE ANTIBIOTICS TO TREAT THE MORE SERIOUS PYOGENIC FORM, AND ANTIVIRALS FOR THE VIRAL FORM.
HUMAN IMMUNODEFICENCY VIRUS (HIV) ENCEPHALOPATHY
BRAIN DISEASE AND DEMENTIA OCCURING WITH AIDS. MANY PATIENTS WITH AIDS DEVELOP NEUROLOGIC GYSFUNCTION. IN ADDITION TO ENCEPHALITIS AND DEMENTIA (LOSS OF MENTAL FUNCTIONING), SOME PATIENTS DEVELP BRAIN TUMORS AND OTHER INFECTIONS.
NEOPLASTIC DISORDERS
BRAIN TUMOR
ABNORMAL GROWTH OF BRAIN TISSUE AND MENINGES. MOST PRIMARY BRAIN TUMORS ARISE FROM GLIAL CELLS (GLIOMAS) OR THE MENINGES (MENINGIOMAS). TYPES OF GLIOMAS INCLUDE ASTROCYTOMA, OLIGODENDROGLIOMA, AND EPENDYMOMA. THE MOST MALIGNANG FOR OF ASTROCYTOMA IS GLIOBLASTOMA MULTIFORME (-BLAST MEANS IMMATURE). TUMORS CAN CAUSE SWELLING (CEREBRAL EDEMA) AND HYDROCEPHALUS. IF CSF PRESSURE IS INCREASED, SWELLING ALSO MAY OCCUR NEAR THE OPTIC NERVE (AT THE BACK OF THE EYE). GLIOMAS ARE REMOVED SURGICALLY, AND RADIOTHERAPY IS USED FOR TUMORS THAT ARE NOT COMPLETELY RESECTED. STEROIDS ARE GIVEN TO REDUCE SWELLING AFTER SURGERY. MENINGIOMAS USUALLY ARE BENIGN AND SURROUNDED BY A CAPSULE, BUT THEY MAY CUASE COMPRESSION AND DISTORTION OF THE BRAIN. TUMORS IN THE BRAIN MAY BE SINGLE OR MULTIPLE METASTATIC GROWTHS. MOST ARISE FROM THE LUNG, BREAST, SKIN (MELANOMA), KIDNEY, AND GASTROINTESTINAL TRACT AND SPREAD TO THE BRAIN.
TRAUMATIC DISORDERS
CEREBRAL CONCUSSION
TEMPORARY BRAIN DYSFUNCTION (BRIEF LOSS OF CONSCIOUSNESS) AFTER INJURY USUALLY CLEARING WITHIN 24 HOURS. THERE IS NO EVIDENCE OF STRUCTURAL DAMAGE TO THE BRAIN TISSUE. SEVERE CONCUSSIONS MAY LEAD TO COMA.
CEREBRAL CONTUSION
BRUISING OF BRAIN TISSUE AS A RESULT OF DIRECT TRAUMA TO THE HEAD; NEUROLOGIC DEFICITS PERSIST LONGER THAN 24 HOURS. A CEREBRAL CONTUSION USUALLY IS ASSOCIATED WITH A FRACTURE OF THE SKULL. SUBDURAL AND EPIDURAL HEMATOMAS OCCUR, LEADING TO PERMANENT BRAIN INJURY WITH ALTERED MEMORY OR SPEECH OR DEVELOPMENT OF EPILEPSY.
VASCULAR DISORDERS
DISRUPTION IN THE NORMAL BLOOD SUPPLY TO THE BRAIN; STROKE. THIS CONDITION, ALSO KNOWN AS A CEREBRAL INFRACTION, IS THE RESULT OF A LOSS OF OXYGEN TO THE BRAIN. THERE ARE THREE TYPES OF STROKES: 1)THROMBOTIC - BLOOD CLOT (THROMBUS) IN THE ARTERIES LEADING TO THE BRAIN, RESLUTING IN OCCLUSION (BLOCKING) OF THE VESSEL. ATHEROSCLEROSIS LEADS TO THE COMMON TYPE OF STROKE AS LOOD VESSELS BECOME BLOCKED OVER TIME. BEFORE TOTAL OCCLUSION OCCURS, A PATIEN MAY EXPERIENCE SYMPTOMS THAT POINT TO THE GRADUAL OCCLUSION OF BLOOD VESSELS. THESE SHORT EPISODES OF NEUROLOGIC DYSFUNCTION ARE KNOWN AS TIAs (TRAINSIENT ISCHEMIC ATTACKS). 2) EMBOLIC - AN EMBOLUS (A DISLODGED THROMBUS) TRAVELS TO THE CEREBRAL ARTERIES AND OCCLUDES A SMALL VESSEL. THIS TYPE OF STROKE OCCURS VERY SUDDENLY. 3) HEMORRHAGIC - A BLOOD VESSEL, SUCH AS THE CERBRAL ARTERY, BREAKS AND BLEEDING OCCURS. THIS TYPE OF STROKE CAN BE FATAL AND RESULTS FROM ADVANCING AGE, ATHEROSCLEROSIS, OR HIGH BLOOD PRESSURE, ALL OF WHICH RESULT IN DEGENERATION OF CEREBRAL BLOOD VESSELS. WITH SMALL HEMORRHAGES, THE BODY REABSORBS THE BLOOD AND THE PATIENT MAKES GOOD RECOVERY WITH ONLY SLIGHT DISABILITY. IN A YOUNGER PATIENT, CEREBRAL HEMORRHAGE IS USUALLY CAUSED BY MECHANICAL INJURY ASSOCIATED WITH SKULL FRACTURE OR RUPTURE OF AN ARTERIAL ANEURYSM (WEAKENED AREA IN THE VESSEL WALL THAT BALLOONS AND MAY EVENTUALLY BURST). THE MAJOR RISK FACTORS FOR STROKE ARE HYPERTENSION, DIABETES, SMOKING, AND HEART DISEASE. OTHER RISK FACTORS INCLUDE OBESITY, SUBSTANCE ABUSE (COCAINE), AND ELEVATED CHOLESTEROL LEVELS. THROMBOTIC STROKES ARE TREATED MEDICALLY WITH ANTICOAGULANT (CLOT-DISSOLVING) DRUG THERAPY. TISSUE PLASMINOGEN ACTIVATOR (tPA) IS STARTED WITHIN 3 HOURS AFTER THE ONSET OF A STROKE. SURGICAL INTERVENTION WITH CAROTID ENDARTERECTOMY (REMOVAL OF THE ATHEROSCLEROTIC PLAQUE ALONG WITH THE INNER LINING OF THE AFFECTED CAROTID ARTERY) IS ALSO POSSIBLE.
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