neuro, psych, opthalmo Flashcards
Arcuate Faciculus leison
conduction displasia
fluent speech
intact comprehension
poor repetition
unable to repeat in high frequency short ssentences
ACE Inhibitors
reduce the protienurea by relaxing arteriols in the glomerulus, slow the deelopment of nephropathy, retinopathy, BP
Radioiodine therapy
reatment for thyroid conditions, including overactive thyroid (hyperthyroidism) and thyroid cancer, by targeting and destroying thyroid cells
Worse eye disease
Brodmann Area 22
in superior temporal gyrus (vernekes area)
forms the speech
Word salad
CAG
huntingtons
Aotosomal dominent
GAA
Fedrichs Atatxia
mutated FRDA gene, making it an autosomal recessive disorder.
rogressive ataxia, absent lower limb reflexes, upgoing plantar responses, and peripheral sensory neuropathy, cardiomyopathy, and the pancreas, resulting in diabetes mellitus.
childhood or adolescence
CTG
Myotonic extropy
CGG
Fragile X
Menieres Disease
vertigo (spinning sensation), hearing loss, and a feeling of fullness
tinnitus,
treatment - betahistine
Anaeroxia noervosa
Gs - Growth hormone, salaivary gland, Glucose - raised
**Cs **- cortisol, cholestorol, carotene - raised
IGF reduced, K redused, FSH, LH, Eastrogen reduced, BP reduced , HR reduced, thiroxie reduced
Relative Afferent Pupillary Defect
Marcus Gunn pupil
sign of unilateral or asymmetric disease of the retina or optic nerve, specifically disease in the prechiasmal visual pathway.
may dilate or show a weaker constriction when light is shone into the affected eye, compared to the normal eye.
ovarian teratoma
ovarian germ cell tumor
related to NMDA enchepalitis - related to psychatry (agitation, halucinations, dilutions, disorderly thinking, insomnia)
MRI head findings normal, but flare sequences in deep subcortical limbic structure
CSF - pleocytosis
Radioactive iodine contraindications
Pregnancy, Breastfeeding, Grave ophthalmopathy, Severe thyrotoxicosis, Vomiting, Diarrhea
Vestibular neuronitis
acute, isolated, spontaneous, and prolonged vertigo of peripheral origin.
Presence of nystagmus
recover spontanously
symptoms are severe - Buccal or intramuscular prochlorperazine or intramuscular cyclizine, oral prochlorperazine, cinnarizine, cyclizine, or promethazine teoclate
Cervical myelopathy
Cord compression at the cervical level of the spinal column resulting in spasticity (sustained muscle contractions), hyperreflexia, pathologic reflexes, digit/hand clumsiness, or gait disturbance
Hoffman sign: positive
MRI
Subacute combined degeneration (SCD)
caused by vitamin B12 deficiency
feeling of weakness. Tingling, a pins-and-needles, burning sensation, and numbness, hypereflexia
gait abnormalities, Romberg sign psotive
Absent anckles and extensor planters
dorsal column, spinoceribellar tracts, corticocerebllar tract
common in older adults, malabsorptive etiologies like pernicious anemia. nitrous oxide abuse,
Baclofen
reduce the release of excitatory neurotransmitters in the presynaptic neurons and stimulate inhibitory neuronal signals in the postsynaptic neurons, resulting in spasticity relief
GABA receptor agonist
korsakoff syndrome/Wernicke-Korsakoff Syndrome
evere thiamine (vitamin B1) deficiency - alcohol abuse
presenta as Confusion , hypothermia, low blood pressure, or coma, eye signs
wernicke triad - opthalmoplegia, horizontal nistagmus, confusion
Lambert Eaton Disease
Anti VGCC disease
small cell lung cancer
lower limb first
hyporeflexia
dry mouth, impotence, micturia
Chiari malformation type 1
occurs when the lower part of the cerebellum (the cerebellar tonsils) extends down into the spinal canal through the foramen magnum, the opening at the base of the skull
downbeat nistagmous
Syringomyelia
dissociasivse sensory loss
spastic weakness in the lower limb (upgoing plantas)
Chiari malformation, tethered cord syndrome
formation of a fluid-filled cyst (syrinx) within the spinal cord, which can lead to damage and compression of nerve fibers, causing symptoms like pain, weakness, and numbness
von hippel-lindau syndrome
Characterized by hemangioblastomas of the brain, spinal cord, and retina; renal cysts renal cell carcinoma; pheochromocytoma and paraganglioma;
endolymphatic sac tumors; and epididymal and broad ligament cystadenomas. Retinal hemangioblastomas
bilateral vitreous haemorrhage
chromasome 3
young adulthood
PCOM (Posterior Communicating Artery) aneurysm
at the junction of ICA PCOA
Oculomotor Nerve Palsy (ONP), SAH, severe headache, visual acuity loss, and spontaneous subdural hemorrhage, Ptosis, Midriasis
Third nerve palsy
Weber’s syndrome,
3rd nerve palsy with contralateral hemiplegia
characterized by damage to the midbrain, resulting in an ipsilateral (same side) oculomotor nerve palsy and a contralateral (opposite side) hemiplegia (paralysis or weakness).
internuclear ophthalmoplegia
disorder of eye movement caused by damage to the medial longitudinal fasciculus (MLF)
causes - MS, Stroke
on the side that failed to adduct has the leision
progressive multifocal leukoencephalopathy
fatal neurological disease caused by the JC virus,
JC virus is activated by Nataluzumab- MS, weakened immune systems, HIV, transplantation
Posterior vitreous detachment (PVD)
a sudden increase in floaters (small dark spots or shapes) and flashes of light, which can be brief streaks in the peripheral vision
epilepsy + pregnancy folic
5mg
brain abscess third generation
IV cephalosporin and metronidazole
Facioscapulohumeral muscular dystrophy (FSHD
genetic, progressive muscle-weakening condition primarily affecting the face, shoulders, and upper arms, but can spread to other muscles. It is inherited in an autosomal dominant pattern,
Restless legs syndrome (RLS)
Willis-Ekbom disease
dopamine agonists,
connected with periodic limb movement disorder
paranoid personality disorder
pervasive and long-standing pattern of distrust and suspicion of others, leading to difficulties in forming and maintaining relationships, overly sensitive
Horner’s syndrome
disruption of the sympathetic nerve pathway supplying the head and neck, leading to characteristic symptoms like miosis (constricted pupil), ptosis (drooping eyelid), and anhidrosis (decreased sweating) on the affected side
The Sympathetic Nerve Pathway
present as - Miosis, Ptosis, Anhidrosis, Enophthalmos, Anisocoria
causes -Central lesions,
difference between surgical and medical third nerve palsy
surgical - pupils dont respond to light due to external compression from anurism, false localizing sign- unckle hereniation
medical - spares the pupils, diabetes, athlesclerosis
Charles Bonnet Syndrome (CBS)
Common in age-related macular degeneration (AMD)
visual hallucinations in people with sight loss
Risk Factors - Eye Conditions Leading to Low Vision, Advanced Age, Bilateral Vision Loss, Psychological Factors,
reassure them
Steinert’s disease or myotonic dystrophy type 1 (DM1)
Distal weakness, autosomal dominent, distruption in the hormonal, disathriya, diabetes, dispagia, learning diffiulty
Stroke
Acute ischemic stroke due to a large artery occlusion (LVO)
focal aware seizure
seizure that happens while a person is awake and alert and aware of what is going on
vitrious haemorrage
right incongruous homonymous hemianopia
caused by trauma, stroke, tumors
PITS
parietal - inferer
temporal - superior
leisions before the Chiasm - affects one eye - anopia
post chiasmal leisons - hormonemous defects
congruous - optic radiation, oxypital cortex
more posterer the defect more congruous defects
incongrous - optic tract leisons (IT)
f
Delirium tremons
cause tremor, confusion, auditory and v halucinatins, fever, tachicardia
Patients taking SSRI should avoid
Tripsin
normal pressure hydrocepulus
Triad - gait disturbance, cognitive impairment, and urinary incontinence
Lat medullary syndrome
a neurological disorder caused by a stroke in the lateral part of the medulla oblongata, often due to a blockage in the vertebral or PICA arteries
ataxia, same side facial numbness, horners sysndrome (ptosis, miosys, anhydrosis)
contralateral pain & temp loss
antypsycotics increase stroke risk
Quatiapine
haloperidol
Dopamine D2 receptor antagonist
Amaurosis fugax
Nuroleptic malignancy Syndrome
fever, muscle regidity , autonomic lability, hyertension, tachicardia, tachypnea,
dopamine blockade
treatment - dandrolin, iv fluid, bromocriptine dopamine agonist
Migraine
acute - triptan(contraindicated in CVS Disease) + NSAID/ paracetamol
Opioids contraindicated
5-HT3 antagonists
ondansetron, granisetron, dolasetron, and palonosetron
side effect - constipation common
wernicke’s enchepalopathy - MRI
Mamilary body enhancement due to petacheal haemorrage
parkinsons
levadopa - motor symptoms
Wernikers Enchepalopathy
confusion
ataxia
nistagmus
opthalmoplegia
pheripheral neurpathy
CAN OPEN
transient global amneasia
unable form new momories
recover within hours
no increase risk of stroke
dilirium tremors to alcohol withdrawal
if liver cirosis present - loreziopam
chlordiazepoxide - p450, hepatic oxidtion, can cause drug accumilation and toxicity
Subacute degeneration of cord
dorsal column and lateral corticospinal column affected
risk factor
carbozapine
autoinduction
return sezuires in 3-4 weeks
promote absent seizures
Antisocial Personality Disorder (ASPD)
- A pervasive pattern of disregard for and violation of the rights of others.
- Lack of remorse or empathy.
- Impulsive and irresponsible behavior.
- Deceitfulness and manipulative behavior.
- Often violates social norms and laws.
Repeatedly lying, stealing, engaging in fights, or failing to hold down a job.
Avoidant Personality Disorder (AVPD)
- A pervasive pattern of social inhibition, feelings of inadequacy, and hypersensitivity to negative evaluation.
- Strong desire for social interaction, but intense fear of rejection or criticism.
- Avoidance of social situations and activities.
- Feelings of being socially inept or unappealing.
Avoiding social gatherings, holding back in intimate relationships, or fearing criticism.
Neuromyelitis optica
Optic Neuritis, Transverse Myelitis, Nausea, vomiting, hiccups, and muscle spasms
AQP4-IgG antibodies
Borderline Personality Disorder (BPD)
difficulties in regulating emotions, maintaining relationships, and having a stable sense of self, often leading to impulsive behaviors and a fear of abandonment
Intense Fear of Abandonment, Unstable and Intense Relationships, Distorted Sense of Self, Impulsive Behaviors, Emotional Instability, Anger Management Issues, Other Associated Symptoms( Self-harm, Suicidal thoughts or attempts, Dissociation)
Narcissistic personality disorder
a need for admiration from others
a grandiose or excessive sense of self-importance
a sense of entitlement
a preoccupation with themselves
a lack of empathy for others.
Deny, Dismiss, Devalue & Divorce
Histrionic personality disorder
- Discomfort when they are not the center of attention
- Interaction with others that is inappropriately sexually seductive or provocative
- Rapidly shifting and shallow expression of emotions
- Consistent use of physical appearance to call attention to themselves
- Speech that is extremely impressionistic and vague
- Self-dramatization, theatricality, and exaggerated expression of emotion
- Suggestibility (easily influenced by others or situations)
- Interpretation of relationships as more intimate than they are
at leaset 5 of above
Borderline Personality Disorder (BPD)
A persistent pattern of unstable relationships, self-image, and emotions (ie, emotional dysregulation) and pronounced impulsivity.
at least 5 of below
* Desperate efforts to avoid abandonment (actual or imagined)
* Unstable, intense relationships that alternate between idealizing and devaluing the other person
* An unstable self-image or sense of self
* Impulsivity in ≥ 2 areas that could harm themselves (eg, unsafe sex, binge eating, reckless driving)
* Repeated suicidal behavior and/or gestures or threats or self-mutilation
* Rapid changes in mood, lasting usually only a few hours and rarely more than a few days
* Persistent feelings of emptiness
* Inappropriately intense anger or problems controlling anger
* Temporary paranoid thoughts or severe dissociative symptoms triggered by stress
* Also, symptoms must have begun by early adulthood but can occur during adolescence.
Dependent Personality Disorder
A persistent, excessive need to be taken of, resulting in submissive and clinging behavior and fears of separation
at least 5 of the below
* Difficulty making daily decisions without an inordinate amount of advice and reassurance from other people
* A need to have others be responsible for most important aspects of their life
* Difficulty expressing disagreement with others because they fear loss of support or approval
* Difficulty starting projects on their own because they are not confident in their judgment and/or abilities (not because they lack motivation or energy)
* Willingness to go to great lengths (eg, do unpleasant tasks) to obtain support from others
* Feelings of discomfort or helplessness when they are alone because they fear they cannot take care of themselves
* An urgent need to establish a new relationship with someone who will provide care and support when a close relationship ends
* Unrealistic preoccupation with fears of being left to take care of themselves
Obsessive-Compulsive Personality Disorder (OCPD)
A persistent pattern of preoccupation with order; perfectionism; and control of self, others, and situations
4 of
* Preoccupation with details, rules, schedules, organization, and lists
* A striving to do something perfectly that interferes with completion of the task
* Excessive devotion to work and productivity (not due to financial necessity), resulting in neglect of leisure activities and friends
* Excessive conscientiousness, fastidiousness, and inflexibility regarding ethical and moral issues and values
* Unwillingness to throw out worn-out or worthless objects, even those with no sentimental value
* Reluctance to delegate or work with other people unless those people agree to do things exactly as the patient wants
* A miserly approach to spending for themselves and others because they see money as something to be saved for future disasters
* Rigidity and stubbornness
Schizotypal Personality Disorder
A persistent pattern of intense discomfort with and decreased capacity for close relationships
5 of
* Ideas of reference (notions that everyday occurrences have special meaning or significance personally intended for or directed to themselves) but not delusions of reference (which are similar but held with greater conviction)
* Odd beliefs or magical thinking (eg, believing in clairvoyance, telepathy, or a sixth sense; being preoccupied with paranormal phenomena)
* Unusual perceptional experiences (eg, hearing a voice whispering their name)
* Odd thought and speech (eg, that is vague, metaphorical, excessively elaborate, or stereotyped)
* Suspicions or paranoid thoughts
* Incongruous or limited affect
* Odd, eccentric, or peculiar behavior and/or appearance
* Lack of close friends or confidants, except for 1st-degree relatives
* Excessive social anxiety that does not lessen with familiarity and is related mainly to paranoid fears
What is the definition of schizophrenia?
A severe mental disorder characterized by distortions in thinking, perception, emotions, language, and sense of self.
What is schizoid personality disorder?
A personality disorder characterized by a lack of interest in social relationships and a tendency towards a solitary lifestyle.
What is psychosis?
A mental health condition characterized by a disconnection from reality, which can include hallucinations and delusions.
What are present symptoms of psychosis?
Hallucinations, delusions.
What are absent symptoms in the context of schizophrenia?
Social interest.
What is a key feature of social interest in schizophrenia?
Reduced ability to form and maintain relationships.
What describes the emotional expression in individuals with schizophrenia?
Flat affect.
What are common treatments for schizophrenia?
Medication (antipsychotics) and therapy.
olanzapine (atypical antipsycotic ) - reduced extraperamedial side effects, increased risk of weight gain and dyslipidemia
What type of therapy is often used to treat schizophrenia?
Psychotherapy.
Fill in the blank: Schizoid Personality Disorder is characterized by little interest in _______.
forming relationships.
True or False: Individuals with schizophrenia typically show a flat affect.
True.
otosclerosis
conductive hearing loss, tinnitus and family history
MSA (formerly Shy-Drager syndrome
rare, progressive neurodegenerative disorder affecting both the central and autonomic nervous systems, causing a range of motor and autonomic symptoms
Post-Concussion Syndrome (PCS
PCS develops after a head injury or concussion, often involving persistent symptoms like headaches, dizziness, and difficulty with concentration and memory
Post-Traumatic Stress Disorder (PTSD):
PTSD develops after experiencing or witnessing a traumatic event, such as a serious accident, assault, or natural disaster.
persistent nightmares, flashbacks, avoidance behaviors, and hyperarousal, such as feeling easily startled or having difficulty concentrating., Emotional detachment
treatment - ssri, snri
Common peronial nerve leisons
foot drop
Degenerative cervical myelopathy (DCM)/ cervical spondylotic myelopathy
Neck pain, numbness/tingling in limbs, weakness, clumsiness, balance issues, and potentially bowel/bladder dysfunction
idiopathic intracranial hypertension
young female, child baring age,
headaches, vision problems (including temporary blindness and double vision), and tinnitus (ringing in the ears)
treatment - asetozolamide, carbanic anhydrase inhibitors
narcolepsy associated neuropeptides
Hypocretin/orexin Deficiency
location of the Brocas Area
posterior aspect of the frontal lobe in the inferior frontal gyrus
non fluent speech, comprehensive ok, repetition impared
Fluorescein angiography (FA)
ocular pathologies, such as diabetic retinopathy, macular degeneration, or retinal vein occlusion
Age-related macular degeneration (AMD)
Wet - 10% worse - Rapid Vision Loss, neovascularization,
Dry - Common 90% - early age, Buildup of yellowish deposits (drusen) beneath the retina
risk factors - age, family history, smoking, and ethnicity, obese, hypertension
Fluorescein angiography
Neurofibromatosis type 1 (NF1) von Recklinghausen disease
The primary risk factor is a genetic mutation in the NF1 gene,
café-au-lait spots, neurofibromas, and in some cases, learning difficulties or behavioral problems, ADHD, Optic pathway glioma, Lisch nodules, Skeletal abnormalities\
causes for hypertension in NF1 - peochromocitoma, renal vasular stenosis, essential hypertension
Neurofibromatosis type 2 (NF2)
bilateral
vestibular schwannomas, leading to hearing loss, tinnitus, and balance problems, with other potential complications including vision problems and neurological deficits
Mixed UMN & LMN signs
motor nuron disease , subacute degeneration of cords, syringiomialgia
Ataxia-Telangiectasia
Autosomal recessive, Crm 11, ATM gene mutation
rogressive ataxia, telangiectasias (dilated blood vessels, especially on the skin and eyes), recurrent infections due to immune deficiency, and increased risk of cancer (lymphoma)
bevacizumab (Avastin), Ranibizumab (Lucentis)
designed to target and block vascular endothelial growth factor (VEGF) signaling, which is crucial for blood vessel formation (angiogenesis)
Hemiballism
a rare movement disorder characterized by involuntary, violent, flinging movements on one side of the body
Subthalamic Nucleus Damage; basal ganglia
Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease
progressive neurodegenerative disorder that affects nerve cells in the brain and spinal cord, leading to muscle weakness and eventually paralysis
Stroke secondary prevention
Clopidagral + statin
eye condition associated with paget’s
notably angioid streaks and, less commonly, optic neuropathy
simple focal seizure management
perinatal hypoxic brain injury
lamotrigin, leverticitam
miller Fisher varient of GBS
Opthalmopledgia, areflexia, ataxia,
anti-GQ1b antibodies
intravenous immunoglobulin (IVIg) or plasmapheresis
heterochromia genetic mutation disease
Waardenburg Syndrome, Sturge-Weber syndrome, Horner’s syndrome, and Parry-Romberg syndrome
motor neurone disease
rogressive muscle weakness, wasting, and twitching, impacting movement, speech, swallowing, and breathing, potentially leading to difficulty with daily activities and emotional lability
reflexes and tone variable
treatment - riluzole, glutamate antagonist
focal seizures
1st line - lamotregine/ levitiranitam
2nd line - carbamazapine (risk of congenital abnormalities)
Alport syndrome
A genetic disorder causing kidney disease, hearing loss, and eye abnormalities, can include retinitis pigmentosa (RP)
Alport syndrome, RP is often characterized by a “fleck retinopathy” with yellowish or whitish flecks or dots on the retina, progressive vision loss, starting with night vision and peripheral vision, tunnel vision, potential central vision loss
chorea caused by damage to basal ganglia lupus
Ischemic events (reduced blood flow, Autoimmune Mechanisms, Antiphospholipid Antibodies
Charcot-Marie-Tooth (CMT) disease
progressive muscle weakness and wasting, primarily in the feet and legs, often leading to foot deformities, difficulty walking, and sensory loss.
Type 1 - autosomal dominient
TCA side effects
dry mouth, blurred vision
Multiple Sclerosis
good prognostic factors include younger age at onset, female sex, a relapsing-remitting course, few relapses, complete recovery from relapses, long intervals between relapses, and mainly sensory symptoms
poorer prognosis include male sex, older age at onset, motor or cerebellar signs at onset, short intervals between attacks, high relapse rates early in the disease, incomplete remission after initial relapses, and early disability
Multiple Sclerosis
Bladder disfunction - USS bladder emptying
Acute relapse - high dose steriod
reduce relapse - natalizumab
Spastic Paraparasis - flexes affected more than extensors, lower limb paralysis characterised by peramedal distribution
cerebrospinal fluid (CSF) analysis often reveals the presence of oligoclonal bands (OCBs), elevated IgG levels, and a slightly increased white blood cell count
tricyclic antideppresents
lateral medullary syndrome
Lateral medullary syndrome (LMS),/ Wallenberg’s syndrome or posterior inferior cerebellar artery syndrome
vertigo, ataxia, nausea, vomiting, dysphagia, hoarseness, and hiccups, along with sensory loss (pain and temperature) on the ipsilateral face and contralateral body
Cluster haedache
verapamil - long term prophylaxis
pain - around or behind one eye, or in the temple, tearing, redness, and a droopy eyelid, miosis, ptosis
ypically presenting with at least five attacks of severe or very severe unilateral orbital, supraorbital and/or temporal pain lasting 15 minutes to 3 hours (untreated) weith above
lip smacking and post ictal disphasia leison
temporal lobe
Ropinirole
dopamine agonist
cts on G-protein-coupled inhibitory neurons, inhibiting adenylyl cyclase and calcium channels while activating potassium channels.
Anterior spinal artery syndrome (ASAS)
Caused by reduced blood flow to the anterior two-thirds of the spinal cord, results in motor deficits and loss of pain/temperature sensation,
Optic atrophy
Optic atrophy occurs when the axons of the retinal ganglion cells (RGCs), which form the optic nerve, die or are damaged.
ischemia, inflammation, compression, toxic exposure, trauma, and hereditary conditions, Glaucoma, multiple sclerosis, drugs (Ethambutol, Amiodarone, Linezolid, isoniazid, chloramphenicol, ciprofloxacin
Stevens-Johnson Syndrome (SJS)
Antibiotics:
Sulfonamides, including trimethoprim-sulfamethoxazole, are frequently implicated.
Anticonvulsants:
Lamotrigine, carbamazepine, phenytoin, and phenobarbitone are known triggers.
Pain Relievers:
Acetaminophen (Tylenol), ibuprofen (Advil, Motrin IB), and naproxen sodium (Aleve) have been linked to SJS.
Other Medications:
Allopurinol (used for gout), nevirapine (an antiretroviral), and certain non-steroidal anti-inflammatory drugs (NSAIDs) can also trigger SJS.
- Infections:
Viral Infections: Herpes, mumps, flu, and the Epstein-Barr virus are potential triggers, especially in children.
Bacterial Infections: Mycoplasma pneumoniae and cytomegalovirus have also been linked to SJS. - Other Factors:
Graft-versus-host disease: This can occur after a stem cell transplant.
Certain genes: Variations in genes, particularly those related to the human leukocyte antigen (HLA) complex, can increase the risk.
Weakened Immune System: Conditions like HIV/AIDS
HSV CT
tenous low density changes within teh reigion of anterioa and medial temporal lobe and island of reil
CMV enchepalitis
always in immunosuppresion
JE
MRI / CT classical bilateral thalamic involvement
limbic enchepalytis
Autoimune
short term memory involved, seizures, psych symptoms
Retinitis pigmentosa (RP)
progressive degeneration of photoreceptor cells (rods and cones) in the retina
Nyctalopia, gradual narrowing of their visual field, leading to tunnel vision, Reduced Visual Acuity,
Cerebellar stroke
’ present as drunk’
Dysdiadochokinesia
Ataxia (gait and posture)
Nystagmus
Intention tremor
Slurred, staccato speech
Hypotonia/heel-shin test
DANISH
Chronic nerve injury pain
pregablin
Basilar-type migraine, “migraine with brainstem aura
neurological symptoms originating from the brainstem, such as vertigo, slurred speech, and double vision, often preceding or accompanying a headache.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
ausing stroke and other neurological problems due to damage to small blood vessels in the brain, often leading to migraines, cognitive decline, and psychiatric disturbances.
NOTCH3 gene, which is located on chromosome 19
Myoclonic seizures
characterized by sudden, brief, shock-like jerks or twitches of a muscle or muscle group, often occurring in clusters and sometimes mistaken for clumsiness
Treatment - sadium valporate
Hypertrophic olivary degeneration
trans-synaptic degeneration of the inferior olivary nucleus (ION) in the brainstem, often resulting from lesions in the Guillain-Mollaret triangle (GMT). HOD is characterized by hypertrophy (enlargement) of the ION, rather than atrophy, and can present with symptoms like palatal tremor, nystagmus, and ataxia
Holmes-Adie Pupil (Tonic Pupil)
Larger than normal, dilated pupil.
diluted pilocarpine drops, where the affected pupil constricts more than the normal pupil.
Light Response: Slow or absent constriction to light (both direct and consensual).
Near Response: Intact and often slow constriction to near stimuli.
Cause: Damage to the post-ganglionic parasympathetic fibers.
Associated Conditions: Benign peripheral neuropathy
Argyll-Robertson Pupil:
Appearance: Small, constricted pupils.
Light Response: Poor or absent constriction to light.
Near Response: Normal or brisk constriction to near stimuli.
Associated Conditions: Characteristic finding in neurosyphilis (late-stage syphilis).
Cause: Interference with the light reflex pathway.
Other Characteristics: Irregular pupil shape (oval, egg-shaped, tear-shaped, etc.).
Distinguishing Features: AR pupils are small and misshapen, while Adie’s tonic pupils remain dilated.
Mnemonic: “Accommodate but do not react”.
Cerebral salt wasting
Na loss is accomponied by water loss, high urin output , normal kidney function, fluid dpletion
Mania Vs Hypomania
Mania and hypomania are both characterized by elevated mood and increased energy, but mania is more severe, potentially causing significant impairment and requiring hospitalization, while hypomania is milder and doesn’t typically lead to such disruptions.
Here’s a more detailed comparison:
Similarities:
Elevated Mood: Both involve periods of abnormally and persistently elevated, expansive, or irritable mood.
Increased Energy: Both are associated with increased activity or energy levels.
Increased Talkativeness: Both can involve being more talkative than usual, with rapid and pressured speech.
Racing Thoughts: Both can include racing thoughts or jumping quickly from one topic to another.
Distractibility: Both can involve being easily distracted.
Decreased need for sleep
Klumpke’s palsy, also known as Klumpke’s paralysis or Dejerine-Klumpke palsy
caused by nerve damage during birth, fall from tree
Weakness or paralysis in the forearm, wrist, and hand.
“Claw hand”, stiff joints
c8 - T1
Erbs falsy
c5-6
weakness in deltoid, biceps, infraspinatus
bilateral stereognosis
foster kennedy syndrome
a neurological condition characterized by unilateral optic atrophy (vision loss) in one eye and papilledema (swelling of the optic disc) in the other, often caused by a mass lesion, such as a tumor, in the frontal lobe
keratitis
Foreign body sensation in the eye. Eye pain. Sensitivity to light. Watery eyes.
