The Case of Nisha the Witch?

Meet Nisha (name changed), a 24-year-old law student from Bangalore. Ambitious, driven,always juggling exams, internships, and caffeine. But lately, her body has been failing her, and no one knows why.

It started two months ago:
Sudden, cramping abdominal pain, so severe she curled up on the hostel floor. No vomiting, no diarrhea. ER ruled it “gastritis” and sent her home.

Then came the weakness. One day she couldn’t climb stairs without her legs trembling. Then came numbness in her fingers. Two weeks later, she fainted in the library.

Her Doctor ordered basic labs—CBC, LFTs, electrolytes, TSH—all normal.

Then… the psych symptoms began.

She’d wake up panicked, saying she felt “possessed.” She was convinced people were talking about her behind her back. Her roommates thought it was exam stress. A psychiatrist started her on an SSRI.

Then came the seizure.

In the ER, as she was catheterized post-seizure, the intern on duty noticed something weird:

> “Why does her urine look reddish-brown under the fluorescent light?”

Her mother, worried sick, added a curious detail:

> “I think something like this happened to her aunt years ago—she had terrible stomachaches and then stopped talking altogether.”

—

You Run the Following Tests:

*CBC: Normal
*CMP: Sodium borderline low, Creatinine mildly elevated
*LFT: Normal
*CT Abdomen: Normal
*ECG: Sinus tachycardia
*Urine Routine: Negative for RBCs, Positive for porphobilinogen

What’s your diagnosis? What would you order nex? Why is UV Light making her urine “glow”?

Ask for any additional labs or imaging and I’ll provide. Let’s see who catches the real diagnosis first. :drop_of_blood:

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Congenital Erythropoietic Porphyria (CEP)

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Good one! :white_check_mark::white_check_mark:

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Any explanation??

The patient is present with numbness, which is a potential deformity & a characteristic of CEP.
CEP is an autosomal recessive genetic disorder. In the given case, the patient’s aunt had been present with like these symptom.
Seizures occur in CEP.
After all, urine look reddish brown under the fluorescent light due to accumulation of purine.
CEP is caused due to deficiencies of uroporphyrinogen III synthase, which is the enzyme for synthesis of blood.
Due to this deficiencies uroporphyrin I accumulates in RBC & leading to the symptoms of CEP.

Also known as Gunther disease.

This might be Acute intermittent porphyria…

Young woman, severe abdominal pain, also neurological symptoms like weakness, numbness and seizures.
Hyponatremia, tachycardia … Can be certain symptoms to notice.

Another thing to be noticed :-
“urine look reddish-brown under the fluorescent light” might be due to porphyrins

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Good one, surely a fitting differential. However, considering she has neurological signs and symptoms. Acute Intermittent Porphyria would be more suitable to consider.

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