MR 1/2/13

Anna Petersen, MD PGY-3

12 y.o. M, with history of choking at age 4 on piece of meat, o/w healthy, presents as a direct admission from neurology clinic.

Approximately 4 weeks ago he had a "virus" with sore throat and upset stomach x 4 days. Grandmother endorses some lower extremity weakness but thought it then seemed to resolve. 2 weeks PTA, felt fatigued and developed pain and weakness in both lower extremities. The pain and weakness has gotten progressively worse. He has spent the last 2 weeks in bed watching TV.

Seen in neurology clinic, who noted significant foot drop and decreased reflexes in both lower extremities, R>L, and had him directly admitted for further workup at PCMC.

Presented to PCP for difficulty walking--he describes this as having to kick his feet out to walk. His grandmother endorses a wide based gait and says that he has been taking ibuprofen regularly for pain. He gets bullied by his older brother for this.

PMH: Term birth, nl. development & milestones. Had a choking incident at age 4 with red meat. Per Grandmother, he developed anorexia to meat and chewy food items thereafter.
PSH: none

FHx:
- Father RLE neuropathy due to crush injury - Mother IDDM, hypotensive episode with 2o TBI, mitral valve prolapse, diabetic neuropathy - PGT died at age 55 w/w pulmonary artery rupture - MGF Diabetic peripheral neuropathy

Social: Lives part-time with MGM and aunt; part-time with father and fathers girlfriend. There disagreement from guardians about the best living situation and school environment for patient and brother. Mother had a TBI 2/2 diabetic coma, now is trach-vent dependent and living in a rehab facility.
Meds: Ibuprofen Behavioral Told he had ADHD previously, not on any medications right now. Does have frequent screaming fights with grandmother and dad. Exposures - No recent travel outside of state. Spends time outdoors with brother. No risk of ingestion, per grandmother.

ROS:
foot weakness limp, tingling sensation Constipation Cranky per MGM, not following directions Negatives:
No fevers No altered mental status No recent illnesses

PE: T 36.7; HR 88; RR 20; BP 109/71

Gen pale, thin boy, alert, awake, difficult to talk to, seems mad to be in the hospital HEENT Slightly thin temporal sides, TMs nl, neck supple, EOMI/PERRL, NP/OP nl CV RRR, S1/S2 no murmur, normal pulses RESP CTAB, no distress ABD thin and concave , normal BS, no HSM appreciated Ext No rashes, no edema, no clubbing

 NEURO EXAM: BLE proximal muscle weakness was noted from the thighs distally to feet.
- In his lower extremities, he had bilateral decreased sensations from knees and knee and ankle jerk reflexes were absent. - No upper-extremity abnormalities and intact cranial nerves

Gait Ataxic, unsteady without a hand-hold. Significant right-sided foot drop and Trendelenburg gait.

Thoughts?
Polyneuropathy in a pediatrics patient:

Thoughts?
Polyneuropathy in a pediatrics patient:
INFECTIOUS: -Lyme Dz -Leprosy -HIV -Diptheria -Mononucleosis NUTRITIONAL: --Alcohol -- B12, B1, B6 deficiencies --Vit E def INFLAMMATORY PARANEOPLASTIC -CIDP -AIDP -Guillain-Barre -TUMORS spinal -- CIDP TOXIC -- Lead ingestion -- Arsenic -- Medications

DIABETES: - Chronic hyperglycemic damage

Other: -- Amyloidosis -- Porphyria -- Lupus, Sjogrens -- Vasculitis -- Uremia

EMG Abnormal conduction consistent with axonal injury (normal conduction, decreased amplitude) LP and spinal fluid analysis were normal. Clear, 3 WBC (Lymphs/Monos), nl protein/glucose; no oligoclonal bands CMP, CBC, CPK, magnesium, TSH CRP/ESR were all normal.

UA = nl; heavy metals in urine = neg

Vitamin levels, Copper, Pyruvate, PENDING

And now, The rest of the story

On HD #1, NGT placed and slow rehydration begun, due to patient refusing to eat and poor urine output
By evening of HD #2, patient had more fatigue and slight tachycardia AM HD #3, NS bolus x 2 was given due to concerns of dehydration.

Tachycardia and hypotension ensued

Admitted to PICU
BNP of >2000 and Troponin 0.18

Milrinone drip started

STAT ECHO obtained LVH and impaired LV relaxation

Given Lasix and weaned off Milrinone slowly

Myocarditis workup initiated: Cardiology believes heart failure not related to neuropathy

Labs return:
B 12 = normal; B 6 = normal; B1 = <2 ng/L (8-30) ; Vitamin D = 23 ng/L; Vitamin E = nl; Vitamin A = nL.

A Very-Very Beri-Beri Problem

Thiamine, vitamin B1
-- serves as a coenzyme in the oxidation of alpha-keto acids and 2keto sugars. It is critical to pyruvate metabolism and is necessary for the synthesis of acetylcholine. -- Because of its use in a variety of metabolic processes and its limited storage in the body, there is a constant daily need for

-- It is rapidly absorbed in the proximal jejunum by active transport and passive diffusion

Wet/Cardiac
Cardiac Beri-Beri Occurs when the impaired pyruvate metabolism leads to a decrease in the amount of acetly-CoA in Krebs cycle Energy deprivation to heart muscle => cell breakdown

Dry/Neuronal
Neuronal Beri-Beri
Occurs most commonly with distal polyneuropathy, both affecting sensory nerves and motor function due to affected axonal injury. Usually irreversible Etiology not fully understood

Treatment
IV loading dose of 100mg x 1 IV Thiamine @ 25 mg daily Switched to PO with 25mg, twice daily, for several weeks Added a multivitamin as well.

Prognosis
Foot Drop
Guarded, most likely poor. Unsure of potential use.

Heart Failure
Improved, likely full recovery

Behavioral
Admitted to UNI Child Psychiatry unit

Nutritional
Dependent on the behavioral