Any New Brain-Twister Cases?

[jmj11]

I haven't seen anything too unusual lately. But anyone else with any brain twisters like we had last week? If I think of any, I'll be back.

[nightrt]

I got one. Admitted a 5 week old exclusively breast fed thriving baby who according to mom has 1 wk hx of uri, no fever. PCP told mom to keep nose clear with saline gtts and bulb syringe. No loss of appetite, no diarrhea, no emesis. Yesterday, while mom was holding child, she began jerking left arm, then all ext. and eyes and lips started twitching. Episode lasted approximately 10 seconds. No color change or apnea. EMS called and child brought to ED. CT was wnl, triage vitals: T-98.8, HR-130, RR-32, Sat 96%, BP not done in pedi ER :/. Here are her labs: RSV and Flu (-), CBC:wbc-12, h/h-10.6/29.7, plt-506, neut-67, bands-4, lymph-27, mono-1, eos-1. CMP:gluc-135, BUN-9, creat-0.5, tot bili-1.5, AST/ALT-46/37, Ca-8.7, alk phos-206, Na-106, K-1.4, Cl-58, CO2-52, anion gap-(-)4, tot. prot-7.1, Albumin-4, Globulin-3.1, Phos-5.3, Mg-2.1. Electrolytes took 12 hrs to correct, urine electrolytes reveal dumping of Na and K after replacement, metabolic and endocrine workup ongoing. Initially thought Cong. Adrenal Hyperplasia, but hypokalemia does not fit it. Urine drug screen was negative, no supplemental h20 being given to child. We started PO feeding today, now that electrolytes are normal meantime send out hormone levels come back, but already, K dropped from 3.8 to 2.7 in 6 hrs. Doc and I are stumped, but continue to dig.

PMH: Child was term SVD. Mom with UTI late in pregnancy, and polyhydramnios that was followed up by US, reported normal. Mom is 31. Lives in trailer with 3 other healthy kids and father. Denies any drug, ETOH, nicotine use, taking only prenatal vitamins, and drinks maybe 1 liter of water per day.

[deborah212]

Originally I was thinking Gittelman's syndrome, but the magnesium is normal: Is it Bartter's Syndrome?

 

Is there hypercalciuria? Do we have an aldosterone level?

[bradtPA]

I don't work with the little folks, but it sounds like there could be a congenital adrenal tumor. Do you have a urine and serum osmalarity to help work through it?

[jmj11]

I will follow this closely and see what you find. Certainly hyponatremic seizure. I don't work with babies and rarely deal with any metabolic disorders. As a no-brainer will say it is a disorder of the kidneys, adrenals, thyroid, pituitary or cerebrum (is there anything left?). Certainly thought of water intoxication at the beginning until the part about continuing to dump electrolytes. Keep us posted. Do you guys do brain MRI beside the metabolic workup (and CT)?

[nightrt]

Aldosterone level is a send out and is pending (the perks of working a rural area). Urine Ca was normal last night (this was collected before correcting Na and K). As for the remaining data, Serum and urine osms were essentially normal. I collected another sample of urine for osm due the kiddo dumping out 10-12ml/kg of urine after Na was finally corrected to about 125. Brain MRI was pending for today as was the abdomen/pelvic CT. Kiddo had 2 seizures early Mon am. Longest lasted 3min, resolved with ativan. Istat Na was 125, but what I found strange was the kid quit seizing prior night after we got level above 115. I noticed 2 little lesions just below the the left eyebrow. Dug further into mom's history. She did state her mother inlaw died of HIV complications while in prison in Mexico 4 years ago. States baby's father spent lots of time with her in her final days. He does occasionally have herpes type I blisters on mouth, but not any since birth of baby. LP was done early this morning but no results before Doc shoo'd me home, again MRI pending this AM. Loaded with Phenobarb and started Acylovir also before I left. I will return to work Tuesday night and update everyone on incoming results.

[deborah212]

Really interesting! Like BradtPA I haven't touched a kid since my pediatric ED rotation many years ago.

 

Is there an ABG? More than just a metabolic alkalosis is going on?

[nightrt]

Ok, sorry for the delay, had to settle admissions. Here are some lab results we have so far: ABG: 7.52/46/133/37.6; CSF: gluc-58, prot-62.5, antigens (-), Counts:

RBC-2772 (intensivist performed after MRI, was non-traumatic), WBC-4, HSV pcr and encephalitis panel pending; Aldosterone level 56; Progesterone level 5.9, Serum ACTH 18, TSH-1.07 (nml), T4-33 (high), free T4-2.51, viral hepatitis panel-neg, CMV pcr-pending, HIV1 & 2-neg, urine Ca-9.2, urine Na-122 (increased from 46 2 night ago), Urine K-108 (also increased from 24), urine Cl-225, urine phos and mg-nml

Imaging results: mod to severe right hydroneph., SUSPECT UNDERLYING RENAL PARENCHYMAL DISEASE (GLOMERULONEPHRITIS VERSUS

PYELONEPHRITIS) per radiologist, VCUG was normal. Renin pending;

Brain MRI report: Faintly visualized areas of decreased in intensity on the T2-weighted images of the thalami bilaterally. Although this likely physiological secondary

to myelination pattern , due to patient's known hyponatremia and seizure activity possibility of a focal areas of myelinolysis are not completely excluded, although unlikely. Clinical correlation as well as MRI followup in 24 - 48 hours is recommended. Brain MRI and Abdominal MRI pending for today.

EEG report: abnormal electroencephalogram in the sleep state due to one electroclinical seizure of 2 minutes and 35 seconds duration starting in C3.

This finding is consistent with the focal seizure with secondary generalization.

I did note more lesions around the eyes and at the hair line. She is still having breakthrough seizures despite nml Na, mind you replacement of Na, Mg, K is ongoing due to urinary losses. Phenobarbital is therapeutic and I just loaded her with Fosphenytoin. Genetics is now on board. Nephrology and Endocrinology 150 miles away are helping by phone. Parents refuse to be transferred to Corpus Christi due to their immigration status, and are fully aware of our limitations. Between us and Nephrology and Endo working diagnosis include: CEREBRAL SALT WASTING, PARTIAL SYNDROME OF INAPPROPRIATE ANTIDIURETIC HORMONE, meningitis possibly viral, and of course hydronephrosis....

All thoughts are appreciated.

[jmj11]

Ok, sorry for the delay, had to settle admissions. Here are some lab results we have so far: ABG: 7.52/46/133/37.6; CSF: gluc-58, prot-62.5, antigens (-), Counts:

RBC-2772 (intensivist performed after MRI, was non-traumatic), WBC-4, HSV pcr and encephalitis panel pending; Aldosterone level 56; Progesterone level 5.9, Serum ACTH 18, TSH-1.07 (nml), T4-33 (high), free T4-2.51, viral hepatitis panel-neg, CMV pcr-pending, HIV1 & 2-neg, urine Ca-9.2, urine Na-122 (increased from 46 2 night ago), Urine K-108 (also increased from 24), urine Cl-225, urine phos and mg-nml

Imaging results: mod to severe right hydroneph., SUSPECT UNDERLYING RENAL PARENCHYMAL DISEASE (GLOMERULONEPHRITIS VERSUS

PYELONEPHRITIS) per radiologist, VCUG was normal. Renin pending;

Brain MRI report: Faintly visualized areas of decreased in intensity on the T2-weighted images of the thalami bilaterally. Although this likely physiological secondary

to myelination pattern , due to patient's known hyponatremia and seizure activity possibility of a focal areas of myelinolysis are not completely excluded, although unlikely. Clinical correlation as well as MRI followup in 24 - 48 hours is recommended. Brain MRI and Abdominal MRI pending for today.

EEG report: abnormal electroencephalogram in the sleep state due to one electroclinical seizure of 2 minutes and 35 seconds duration starting in C3.

This finding is consistent with the focal seizure with secondary generalization.

I did note more lesions around the eyes and at the hair line. She is still having breakthrough seizures despite nml Na, mind you replacement of Na, Mg, K is ongoing due to urinary losses. Phenobarbital is therapeutic and I just loaded her with Fosphenytoin. Genetics is now on board. Nephrology and Endocrinology 150 miles away are helping by phone. Parents refuse to be transferred to Corpus Christi due to their immigration status, and are fully aware of our limitations. Between us and Nephrology and Endo working diagnosis include: CEREBRAL SALT WASTING, PARTIAL SYNDROME OF INAPPROPRIATE ANTIDIURETIC HORMONE, meningitis possibly viral, and of course hydronephrosis....

All thoughts are appreciated.

 

Following this with intrigue but clueless. All I can say C3 eeg spike probably consistent with a rt upper extremity focal motor seizure (sounds like it had secondary generalizations earlier. MRI showed no lesions so probably metabolic.

 

Here is a sad secondary commentary. If I were in your shoes, I would say this girl needs to be sent to a tertiary center. No matter what your (meaning the readers' not you personally) views are on immigration, in these situations, when a human life weights in the balance, there should be complete amnesty for the family.

[nightrt]

Before I got off for the holiday, I spoke to the social worker. She was going to speak to someone at the checkpoint. She wasn't very optimistic, but mom is not ready to leave her baby alone. It was heartbreaking to watch mom cry over this child's bed, command her to "wake up" during her seizures. I am truly concerned for mom, who is not sleeping or eating, due to her concern over the possibility of needing to go north. I see this all the time. Sometimes we get an agent who allows the parents to pass on the condition the parents give legitimate numbers for random check ins with INS. Can you believe we have had ambulances stopped and parents detained at the checkpoint and we have had agents remove family members from planes (aircare/halo flight) at the airport? I understand security, but why does humanity have to go out the window?

[jmj11]

Before I got off for the holiday, I spoke to the social worker. She was going to speak to someone at the checkpoint. She wasn't very optimistic, but mom is not ready to leave her baby alone. It was heartbreaking to watch mom cry over this child's bed, command her to "wake up" during her seizures. I am truly concerned for mom, who is not sleeping or eating, due to her concern over the possibility of needing to go north. I see this all the time. Sometimes we get an agent who allows the parents to pass on the condition the parents give legitimate numbers for random check ins with INS. Can you believe we have had ambulances stopped and parents detained at the checkpoint and we have had agents remove family members from planes (aircare/halo flight) at the airport? I understand security, but why does humanity have to go out the window?

 

Which side of the Rio Grande are you on? Do you mean you are on American soil and there are still check points between you and "America proper?"

[nightrt]

We are north of the Rio Grande, but there are checkpoints 100 miles north of us as well. This is where the drug busts that do get past the port of entry. Hwy 281leads north to San Antonio and has a checkpoint in Falfurias, TX; Hwy 77 leads to corpus christi and has a checkpoint @ Sarita Tx. There 2 roads are the only ones that lead north.

[jmj11]

We are north of the Rio Grande, but there are checkpoints 100 miles north of us as well. This is where the drug busts that do get past the port of entry. Hwy 281leads north to San Antonio and has a checkpoint in Falfurias, TX; Hwy 77 leads to corpus christi and has a checkpoint @ Sarita Tx. There 2 roads are the only ones that lead north.

 

Learn something new every day. Reminds me of an incredible Land Rover trip, which I took 25 years ago. I journeyed from Abu Dhabi, well into Oman . . . but we didn't have Omani visas. So we had to dodge check points (but they were 100 miles across the Omani desert, closer to civilization."

 

Why can't the social worker or other American accompany the baby and leave the parents there?

 

Still seizing? Have you considered IV Lacosamide, levetiracetam or valproate?

[nightrt]

After I loaded with Fosphenytoin, she was seizure free (longest stretch). Parents want to accompany the baby, no compromise. We are working on permissions with letters of compassion from my SP regarding child's condition. Hopefully, this let her fly worry free. Next line may be Levetiracetam if seizures persist. Just such a mixed picture this little one. She will weigh heavy on my mind over this long weekend....

[ajnelson]

Which side of the Rio Grande are you on? Do you mean you are on American soil and there are still check points between you and "America proper?"

 

Same here in AZ (and I've driven through them in CA as well). The check points are well north of the border, and they are moving them even further north.

[nightrt]

Ok, so my little one got transferred up to Corpus Christi with letters from SP and Pedi Endocrinologist up there, made it there without a hitch. Prior to transfer, we repeated the T4, TSH and T3 uptake. Turns out, TSH was low (0.07), T4 was high (35.4), and T3 uptake was low (27). All values were WNL prior. Discussed with Pedi Endo up in CC and she had to call a friend at a research center and found a similar case of hyperthyroidism with severe electrolyte abnormality and seizures. Child will be treated up in CC with follow up with a pedi endo here (she had refused the case earlier, but CC endo convinced her to take the case after initial treatment :/). Until levels are thyroid levels are stabilized, she will continue to dump out her electrolytes. She has been up there since the day after Thanksgiving. Thanks for all the help everyone! :)

[jmj11]

Thanks for the case. I didn't expect that hyperthyroidism could cause so much damage . . . but you learn something every day. I think that would have been choice of possibly causes as it should be treatable. Glad she got to go.