Friday, April 27, 2012

Gaucher's disease

Gauchers has a 3G phone in his wrinkled paper bag!

Lyosomal storage disease
Deficiency of acid beta Glucosidase (Glucocerebrosidase)
Ashkenazi Jews
Aut recessive
wrinkled paper appearance of macrophages
Erlenmeyer flask deformity of distal femur (aseptic necrosis) - seen in other conditions e.g SS Dx
Grey-brown pigmentation of forehead, hands and pretibial area

Tay-Sachs disease

Lysosomal storage disease
Deficiency of Hexosaminidase A (TAY)
Cherry-red spot on Macula
Aut recessive
Ashkenazi Jews
Onion skin appearance of lysosomes

mnemonic: Sac of onions!

Niemman-Picks Disease

Lysosomal storage dx
Deficiency of Sphingomyelinase
Cherry-red spot on Macula
Aut recessive
Common in Ashkenazi Jews
5month old infant experiences regression in developmental milestones.

No Man Picks his nose with his Sphingers without Regressing!

Renal cell CA

Adult with gross painless hematuria, think of malignancy: bladder, renal, ureters
Do Contrast Abdo CT or IVU
If nothing is seen, do cystoscopy.

Note: Bladder  mass more common than renal cell CA

Renal cell CA:
hematuria, flank pain , abdo mass in 10%. Presence of lft sided varicocoele which doesn't empty when recumbent, is highly suggestive of RCC.

Rhesus incompartibility

Every woman @ first prenatal visit, do Rh screen and Rh Ab titre.

In Rh negative woman, consider as sensitized if Ab titre is >1:4

If Ab titre> 1:16, do amniocentesis @ 16-20 wks gestation, check fetal cells for rhesus factor
If not sensitized or <1:16, repeat Ab titre @28 wks

If fetal cells r rhesus positive and mother's Ab titre >1:16 then fetus is at risk of Erythroblastosis
If fetal cells r rhesus negative, then there's no risk for the fetus even though mother is sensitized, continue usual prenatal care.

If fetus is rh + and at risk, check if fetus is already hemolysing : serial amniocetensis for amiotic fluid bilirubin
if mild, repeat in 2-3wks, if moderate, repeat in 1-2 wks, if severe consider intervention:
       Is fetus anemic?
       How low is Hct?
       umbilical cord blood hematocrit <25% ----intrauterine transfusion or deliver if >34 wks G.A

Give anti D immunoglobulin to all Rh negative pregnant women who remain unsensitized at 28 wks. Repeat after delivery if baby is rh positive.
If already sensitized, Rhogam is of no value, focus on fetal monitoring and intervene as appropriate.

After an abruptio or other events with suspected fetomaternal haemorrhage,
Do a rosette test (qualitative) to confirm fetomaternal haemorrhage.
If positive, do a kleihauer - Betke test to quantify the haemorrhage.
For every 15mls of fetal blood in maternal circulation, give 300microgram of Rhogam up to a maximum of 1500microgam.

Drug Intoxication

Cocaine: Euphoria, anorexia, pupillary dilatation, illusions , hypertension, tachcardia tmt:BZDP, antipsychotics, antihypertensives

Marijuana : confusion, slow response time, red eyes, increased appetite

TCA: seizures, arrythmias, wide QRS, anti cholinergic effects (dry mouth, constipation, urinary retention etc) tmt:protect the heart with NaCO3

Aspirin: hyperventilating, tinnitus, anion gap metabolic acidosis + resp alkalosis, tmt: Alkalinization of urine with NaCO3

Opiates: miosis (may be absent if other drugs r also present), drowsy,slurred speech, coma tmt:Naloxone

Benzodiazepines: drowsy, confused, blurred vision, agitated, coma, resp depression , hypotension tmt: Flumazenil

PCP: violence, nystagmus, seizure, agitation tmt:BZDP, antipsychotics

Beta blocker: coma, seizures, hypotension, bradycardia tmt: ABC, glucagon

Digoxin: GI symptoms- anorexia, nausea, vomitting, abdo cramps, yellow green distortion, drowsiness, dyspnea, bradycardia, hypotension tmt: Atropine then gastric lavage, correct electrolytes.


Migraine:  Female pt, Chronic, + aura, related to menses, N&V, may be pptatd by emotions, Acute tmt :ergotamine, triptans, DO NOT COMBINE ERGOT WITH TRIPTANS-risk of prolonging vasospasms.
Prevention: Propanolol, CCBs, TCAs, SSRIs, Botox

Cluster: Male pt, episodic, retro-orbital, wakes patient up at night, may not occur for months to yrs, red eye, Horner syndrome, Acute tmt: 100% Oxygen,  triptans, ergotamine, Lithium, Steroids . Prevention - Verapamil, Lithium, Steroids

Tension : diag of exclusion, tmt: NSAIDS

Raised ICP : Early morning headaches, worsened by tilting head forward, visual changes, papilledema

Pseudotumour cerebri: raised ICP + normal CT/MRI, normal CSF content, Obese female, OCPs, tmt: wt loss, acetazolamide, repeated LPs for acute reduction, VP shunt if no response..

Giant cell arteritis: visual disturbances, temporal area, systemic symptoms, jaw claudication. markedly elevated ESR. tmt: steroid. Start prednisone immediately without waiting for biopsy confirmation, to save vision.

Nephrotic Syndrome

periorbital edema
hyperproteinuria >3.5g/day,
Thrombosis (due to loss of protein c  & s and antithrombin)
Infections (Ig loss)

Initial test : Urinalysis
Most accurate for cause : Biopsy
Most accurate measure of proteinuria: Urine albumin/creatinine ratio = 24hrs urinary protein

Children : think minimal change dx
Adults : most common is focal segmental (initially membranous glomerulonephritis)
AIDS: think focal segmental

Renal Biopy done in Adults
Biopsy not reqd in children with suspected NS, treat empirically with prednisone. + cyclophosphamide if resistant


Xteristic features:

Alzheimers : memory loss first before onset of behavioural changes, confusion, gets lost in familiar neighbourhood , neurofibrillary tangles, enlarged ventricles, (Drug Tmt: Donepezil)

Lewy body : Parkinsonism,  Hallucinations, fluctuations in cognition and alertness

Picks  dx :  behavioural changes more prominent and preceeds memory loss, aphasia, frontotemporal atrophy

Pseudodementia : Depression

Normal pressure hydroceph : urinary incontinence, gait ataxia (large vol LP is both diagnostic and therapeutic)

Creutzfeldt Jacob dx  : prion dx, rapidly progressing dementia, ataxia, myoclonus, gait abnormalities, seizures, memory loss, personality changes, hallucination, sharp triphasic synchronous discharge on EEG. Mostly sporadic.

Huntington : Early onset dementia, Ataxia, Chorea, Family history, Aut Dominant.

Aortic Dissection

Severe, tearing chest pain, radiating to the back/inter-scapular area
Hypertension (or hypotension)
Asymmetrical BP
BP lower in rt arm if tear extends into brachiocephalic artery
BP lower in left arm if tear extends into left Subclavian
signs of ischemic stroke if tear extends into common carotid
New murmur if aortic regurgitation, due to aortic root involvement

Best initial test is CX-ray : widened mediastinum
TEE more sensitive
Most accurate test however is angiography (but is not usually necessary and carries higher risks)

Tmt of Ascending aortic dissection is emergent surgery
Tmt of Descending aortic dissection is BP control first! Beta blocker to reduce shearing force then Nitroprusside.
Don't give Nitroprusside before Beta blocker in aortic dissection.