Young boy w/ acute onset quadriparesis with areflexia, admitted to ICU with "GBS". You happen to glance at Urine Bag. something is off! The old urine is darker!? The patient is squealing with abdominal pain. Relatives tell you- seizures in the past
Thoughts?
#MedTwitter
Thoughts?
#MedTwitter
This surely doesn't feel like a routine GBS. Young boy with seizures and abdominal pain, think of the Porphyrias!
Our patient probably has one of the acute Porphyrias. Confirmation of the type eluded us unfortunately since genetic analysis is expensive. Probably AIP
Our patient probably has one of the acute Porphyrias. Confirmation of the type eluded us unfortunately since genetic analysis is expensive. Probably AIP
Neuro Porphyrias include
1. Acute Intermittent Porphyria (AD)
2. Hereditary Coproporphyria (AD)
3. Variegate Porphyria (AD)
4. ALA Dehydrates Porphyria
1. Acute Intermittent Porphyria (AD)
2. Hereditary Coproporphyria (AD)
3. Variegate Porphyria (AD)
4. ALA Dehydrates Porphyria
Clinical Features of the Porphyrias
Abdominal Pain (most common), severe, crisis Medical cause of an "Acute Abdomen"
Autonomic : Tachycardia, OH (also seen in GBS, but if prominent, think Porphyria)
Neuropathy: Acute Axonal Type (like GBS/AMAN) Can affect cranial nerves as well
Abdominal Pain (most common), severe, crisis Medical cause of an "Acute Abdomen"
Autonomic : Tachycardia, OH (also seen in GBS, but if prominent, think Porphyria)
Neuropathy: Acute Axonal Type (like GBS/AMAN) Can affect cranial nerves as well
Psychiatric Features acutely developing or a history
Seizures
Hyponatremia (contributes to delirium) d/t SIADH
Skin Manifestations: blisters, photosensitivity
Keeping there urine in sunlight is an ancient test for porphyrias
Note old urine is dark coloured and the fresh light!
Seizures
Hyponatremia (contributes to delirium) d/t SIADH
Skin Manifestations: blisters, photosensitivity
Keeping there urine in sunlight is an ancient test for porphyrias
Note old urine is dark coloured and the fresh light!
Diagnosis
High Level of Suspicion
Initial Screening: Urine PBG
Followed by porphyrin levels in the urine
Final Diagnosis: Genetic Study
Don't forget to screen family members (AD!!)
High Level of Suspicion
Initial Screening: Urine PBG
Followed by porphyrin levels in the urine
Final Diagnosis: Genetic Study
Don't forget to screen family members (AD!!)
One Important Differential is Acute Lead Toxicity
Remember
"LEAD TOXICITY IS MAN-MADE PORPHYRIA"
Every note in our old Biochemistry Textbooks can possibly have great clinical implications!
#MedEd #biochemistry
Remember
"LEAD TOXICITY IS MAN-MADE PORPHYRIA"
Every note in our old Biochemistry Textbooks can possibly have great clinical implications!
#MedEd #biochemistry
AIP
Deficiency of HMB Synthase
IncreaseD urine ALA, PBG, Uroporphyrin Levels
Most Common Acute Hepatic Porphyria
CF:
Abdominal Pain (m/c)
Neuropathy : GBS with prominent upper limb inv
Exacerbated by drugs like OCP, Steroid, Phenytoin
Hyponatremia
Deficiency of HMB Synthase
IncreaseD urine ALA, PBG, Uroporphyrin Levels
Most Common Acute Hepatic Porphyria
CF:
Abdominal Pain (m/c)
Neuropathy : GBS with prominent upper limb inv
Exacerbated by drugs like OCP, Steroid, Phenytoin
Hyponatremia
Treatment
Acute:
Hemin, IV (not easily available here) (even for Neuropathy)
Glucose Loading : easy and effective
Supportive Care
Pain: Opioids
Autonomic: Beta Blockers
Seizures :AED (Leveteracetam, avoid CBZ, Phenytoin Phenobarbital!!)
Acute:
Hemin, IV (not easily available here) (even for Neuropathy)
Glucose Loading : easy and effective
Supportive Care
Pain: Opioids
Autonomic: Beta Blockers
Seizures :AED (Leveteracetam, avoid CBZ, Phenytoin Phenobarbital!!)
For the #NEETPG candidates
Most Common Porphyria Adults: PCT
Second Most Common: AIP
Most Common Acute Porphyria: AIP
Most Common Porphyria #Pediatrics : EPP
Most Common Porphyria Adults: PCT
Second Most Common: AIP
Most Common Acute Porphyria: AIP
Most Common Porphyria #Pediatrics : EPP
Take Home Message
Be alert for GBS Mimics
Sometimes the most glamorous diagnosis comes from staring at urine. Make it a habit to observe it. Keep a urine sample in the sunlight if any doubt and look for colour change. A Screening Test, gratis !
#Neurology #NeuroTwitter
Be alert for GBS Mimics
Sometimes the most glamorous diagnosis comes from staring at urine. Make it a habit to observe it. Keep a urine sample in the sunlight if any doubt and look for colour change. A Screening Test, gratis !
#Neurology #NeuroTwitter
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