16. The Challenge

 

‘Jax, we’re going to be late!’

‘Geez, relax. You’ll see the Nets playing in time.’

It was the first time that my day off, Jax’s day off and Nets game day were all aligned. So we bought the tickets as soon as we realized that and got there sooner than we planned. We were waiting for the game to start on our seats when Jax turned to me.

‘So... I had an interesting case this week. Would you like to take on the puzzle, Liz?’ He lifted one eyebrow.

‘God, we haven’t done this since forever!’ I laughed. ‘I’m in.’

‘Same bet?’

‘Always.’

We used to do this over the phone when we were both in college studying for our tests or going for our rounds. One of us would find an interesting case and challenge the other to solve it. The challenged one could ask as many questions as he could think of, and had three attempts at the diagnosis. Use of the cell phone was allowed if the question to be searched was approved by the board. The board of course being the one who proposed the challenge.

Jax cleared his throat.

‘A 10-year-old boy,’ he started. ‘Let’s call him Harry, was brought to Brooklyn’s Hospital by his mother for diarrhea and progressive confusion. Go.’

‘Okay. When did the diarrhea start?’

‘The mother said he has on and off periods of diarrhea for a couple of years. This particular time has gotten way worse for the past two days.’

‘Do these episodes have a connection with any sort of trigger?’

‘No. The mother couldn’t connect the symptoms with any activity or exposure Harry could have had, although she did say it was the second or third time it had happened after a cold. Harry had flu-like symptoms 10 days before that resolved on its own.‘

‘How was the diarrhea?‘

‘She didn’t have a lot of descriptive information about the diarrhea, except that it wasn’t bloody.‘

The game finally started so we paused our challenge. The Nets were struggling and went into half-time 8 points behind. So we went for popcorn while I resumed my interview. After some questions, I had found a reasonable amount of interesting information from his history. The mother said he had these episodes maybe 4 or 5 times that she could remember. He would have bouts of diarrhea accompanied by confusion and tremors. When asked about previous conditions, Jax told me Harry had a history of persistent itchy rashes that his mother treated with emollients. The rash was especially worse when he was out playing in the sun.

‘Did he take some medication?’ I asked.

‘None.’

‘Had fever?’

‘No.’

‘Does he have any allergies? Or asthma?’

‘No and no. And that couldn’t explain all his symptoms.’ He frowned.

‘I know.’ I sunk my head in my hands. ‘Ok. Let’s go to the physical exam.’

‘Sure?’ Jax asked. Another rule of the game was that you couldn’t go back. History, physical, then complementary exams. If you finished one of them, no asking again.

‘No, but I’m curious so tell me already.’

‘Vital signs were okay. I’ll save you some time and tell you cardiovascular, respiratory, and abdominal examinations were also normal.’

‘Ectoscopy?’

‘He seemed a little tired, hypoactive. The skin rash had reddish and hyperpigmented plaques on the dorsum of the hands, legs, and a bit on the face.’

‘Humm… Celiac disease?’

‘Is that one of your three guesses?’

‘Well… Yes, tell me.’

‘No, it’s not Celiac.’

‘Crap’ I muttered. ‘You said he was confused...’ I thought out loud. ‘Something on the neurological exam?’

‘He also had tremors, like the mother described, and discrete ataxia. But now you’ll have to wait, doctor, cause halftime is over and the Nets are about to crush the Knicks anytime now.’

The next quarter passed and to our frustration, it ended tied. And I also hadn’t figured out Jax’s case yet. 

  ‘Okay. Let’s move on to complementary exams.’ I said.

‘As you wish. What do you want to know?’

‘I have no idea.’

He laughed. ‘Then I’ll tell you that most of the things you can think of ordering won’t help you.’

‘Biopsy?’

‘Nice try. But no, it’s not gonna be that easy. We didn’t order one.’

On the subway home from Barclays Center, we were both happy and giggly since Allen’s last mid-range shot got the win for the Brooklyn Nets. I was still stuck on the challenge though.

‘I don’t know, Jax.’

‘Think Liz. What do you have so far?’

‘Well... Kid with diarrhea, rash, and neurologic symptoms.’ Then it hit me. ‘Damn it. That’s niacin’s triad! Was he malnourished?’

‘Nope.’

‘An alcoholic maybe?’ 

‘He is ten, woman.’ We laughed.

‘Then you win. Tell me what it is.’

He smiled. ‘Oh, you ain’t gonna like it Lisa Diaz.’

‘Harry has Hartnup Disease. He is not malnourished but his body can’t transport neutral amino acids in the intestines and kidneys. So he doesn’t have tryptophan to turn into niacin.’

‘Oh Jackson. That’s such a technicality.’ I punched him in the arm.

He laughed even more. ‘Don’t be a sore loser.’

I smiled ‘You know I’m not.’

The next day his box of donuts was waiting for him when he woke up.

...

Want to know more about Hartnup Disease?

https://rarediseases.org/rare-diseases/hartnup-disease/

Want to read a real case of Hartnup Disease?

http://www.e-ijd.org/article.asp?issn=0019-5154;year=2008;volume=53;issue=1;spage=31;epage=32;aulast=Patel

Clinical Board

AR: autosomal recessive; aa: amino acid; Tt: treatment; Ptn: protein.