Contributed by Kudakwashe Chikwava, MD, David N Finegold, MD
Published on line in January 2003
CHIEF COMPLAINTS: The patient is a 15-year-old male with history of hypercholesterolemia, who was transferred from an outside hospital after he presented with a five-day history of low-grade temperature, nausea, and vomiting. He had been seen by his PCP 3 days prior and was referred to the outside hospital where he was given IV fluids, and was subsequently discharged on promethazine (pr). However, the symptoms did not improve, and he developed and ataxia and slurred speech, for which he returned to the outside hospital. On the second admission he had a head CT scan, which was negative and normal CBC, electrolytes and liver function tests. Subsequently the patient was transferred to Children's Hospital of Pittsburgh for further work up and management. A review of the all other systems was unremarkable.
CURRENT MEDICATIONS: None.
ALLERGIES: Denies known medication allergies.
FAMILY HISTORY: Positive for the patient's father and sister who have hypercholesterolemia.
APPEARANCE: Well-developed. Lethargic, drowsy and stuporous. Glasgow Coma Scale: Total Score = 13. The skin revealed no rashes, no petechiae or purpura.
VITAL SIGNS: BP: 134/75. T: 36.6° P: 68 regular. R: 20.
HEAD, EYES, EARS, NOSE AND THROAT: Normal with pupils 3 to 4mm and equally reactive to light.
Motor: The neck was supple and non-tender. Strength was 4/5 at hip and shoulder girdle.
Sensory: Loss of sense of light touch of left knee, shin and foot. Loss of sense of proprioception of left forearm, knee, shin and foot. The remainder of the neurological and other sytems was normal.
INITIAL (ER) DIAGNOSIS:
INITIAL HOSPITAL COURSE:
Neurologists were consulted and they noted fluctuating level of consciousness and ordered a Stat urine toxicology screen, EEG and also wanted an LP for viral meningitis and metabolic screen.
Urine tox screen, CBC, Electrolytes, LFTs and UA were negative (Table 1) and EEG showed a diffuse slow (4Hz) and triphasic wave pattern suggestive of metabolic disorder. Ammonia level was sent, for which he was high, level of 267 umol/L.
|Urine comprehensive drug screen||Positive for promethazine only||NDA ( Note that patient was on pr phenergan from outside hospital)|
|Serum toxicology screen||Negative for THC, TCAs, PCP, amphetamines, barbiturates, benzodiazepines, cocaine, alcohol and opiates||NDA|
|Glucose||99 mg/dL||70-110 mg/dL|
|Potassium||4.2 mEq/L||3.5-5.0 mEq/L|
|Chloride||104 mEq/L||95-110 mEq/L|
|Co2||23 mEq/L||21.0-31.0 mEq/L|
|Blood Urea Nitrogen||15 mg/dL||5-20 mg/dL|
|Creatinine||0.8 mg/dL||0.5-1.4 mg/dL|
|Hemoglobin||16 g/dL||13.5-17.5 g/dL|
|White Cell Count||5.3 x 10E+09/L||4.5-13 x 10E+09/L|
|Platelets||201 x 10E+09/L||156-369 x 10E+09/L|
|Alkaline Phosphate||164 IU/L||40-125 IU/L|
|Aspatate aminotransferase (AST)||25 IU/L||<40 IU/L|
|Alanine aminotransferase (ALT)||50 IU/L||<40 IU/L|
|Cholesterol||234 mg/dL||135-168 mg/dL|
|Triglyceride||39 mg/dL||53-88 mg/dL|
While in PICU urine orotic acid was 62.6 ug/mg Creat. Most of the urine amino acids were normal with occasional only slightly elevated measurements. Serum amino acids were within normal range.