26336183 Visualization

A 35 Age - year Age - old Age woman Sex was admitted Clinical_event with a 5 Duration - day Duration history of increasing drowsiness Sign_symptom , fatigue Sign_symptom , personality Sign_symptom changes Sign_symptom , generalised Detailed_description weakness Sign_symptom and deteriorating Qualitative_concept mobility Diagnostic_procedure .
Her medical history included a 10 Duration - year Duration history History of History schizo Disease_disorder - affective Disease_disorder disorder Disease_disorder , lithium Detailed_description - induced Detailed_description diabetes Disease_disorder insipidus Disease_disorder and hypothyroidism Disease_disorder .
Her medications included sodium Medication valproate Medication 1 Dosage   g Dosage twice Dosage daily Dosage , carbamazepine Medication , quetiapine Medication and lithium Medication .
On admission Activity , the patient was drowsy Sign_symptom , difficult Sign_symptom to Sign_symptom rouse Sign_symptom ( sleeping Activity all Detailed_description night Detailed_description and Detailed_description in Detailed_description the Detailed_description afternoon Detailed_description ).
Her Glasgow Diagnostic_procedure Coma Diagnostic_procedure Scale Diagnostic_procedure ( GCS Diagnostic_procedure ) was 14/15 Quantitative_concept , her abbreviated mini Diagnostic_procedure - mental Diagnostic_procedure test Diagnostic_procedure score Diagnostic_procedure was 6/10 Quantitative_concept and she was noted to be slow Qualitative_concept in her responses.
Neurological Diagnostic_procedure examination Diagnostic_procedure showed reduced Qualitative_concept power Diagnostic_procedure in her lower Biological_structure limbs Biological_structure (3–4/5) in a pyramidal Qualitative_concept distribution Qualitative_concept , and brisk Qualitative_concept reflexes Diagnostic_procedure with intact Qualitative_concept sensation Diagnostic_procedure in all Detailed_description modalities Detailed_description .
Cardiovascular Biological_structure , respiratory Biological_structure and gastrointestinal Biological_structure examinations Diagnostic_procedure were unremarkable Lab_value and there were no demonstrable features of hepatic Disease_disorder disease Disease_disorder .
Routine Detailed_description biochemistry Diagnostic_procedure was unremarkable Qualitative_concept .
The patient's alanine Diagnostic_procedure transaminase Diagnostic_procedure was 7 Lab_value   u/L Lab_value (1–15), alkaline Diagnostic_procedure phosphatase Diagnostic_procedure 61 Lab_value   u/L Lab_value (30–130), γ Diagnostic_procedure - glutamyl Diagnostic_procedure transferase Diagnostic_procedure 17 Lab_value   u/L Lab_value (<45) and bilirubin Diagnostic_procedure was 6 Lab_value   μmol/L Lab_value (<21).
She had normal Qualitative_concept serum Detailed_description B12 Diagnostic_procedure and folate Diagnostic_procedure levels, and normal Qualitative_concept thyroid Diagnostic_procedure function Diagnostic_procedure tests Diagnostic_procedure .
Serum Detailed_description lithium Diagnostic_procedure levels were within Qualitative_concept the Qualitative_concept therapeutic Qualitative_concept range Qualitative_concept .
Her serum Detailed_description ammonia Diagnostic_procedure was 47 Lab_value   μmol/L Lab_value (11.2–35.4) and valproate Diagnostic_procedure concentrations were elevated Qualitative_concept 140 Lab_value   mg/L Lab_value (50–100).
Brain Biological_structure imaging Diagnostic_procedure including CT Diagnostic_procedure and MRI Diagnostic_procedure did not show any haemorrhage Sign_symptom or intracranial Biological_structure mass Sign_symptom .
Lumbar Diagnostic_procedure puncture Diagnostic_procedure demonstrated clear Qualitative_concept cerebrospinal Biological_structure fluid Biological_structure ( white Diagnostic_procedure cell Diagnostic_procedure count Diagnostic_procedure <1×106/L Quantitative_concept , protein Diagnostic_procedure 0.25 Lab_value   g/L Lab_value (0.2–0.4)).
EEG Diagnostic_procedure demonstrated mild Severity variable slowing Sign_symptom and irregularity Sign_symptom of Sign_symptom background Sign_symptom activity Sign_symptom (likely due to medication Medication ).
The differential diagnosis included encephalitis Disease_disorder , Guillain Disease_disorder - Barré Disease_disorder syndrome Disease_disorder and acute Disease_disorder disseminated Disease_disorder encephalomyelitis Disease_disorder ( ADEM Disease_disorder ), which were excluded through our investigations.
In view of the raised Lab_value valproate Diagnostic_procedure and ammonia Diagnostic_procedure levels, a diagnosis of valproate Disease_disorder hyperammonaemic Disease_disorder encephalopathy Disease_disorder ( VHE Disease_disorder ) was made at this point
The dose of sodium Medication valproate Medication was reduced Dosage by Dosage half Dosage rather than being completely withdrawn.
This was due to the complex and challenging nature of managing the patient's schizo Disease_disorder - affective Disease_disorder disorder Disease_disorder .
Within Date 3 Date   days Date , there was evident clinical improvement Lab_value in her mental Diagnostic_procedure status Diagnostic_procedure .
The patient was able to sit Activity and communicate Activity with the team, and her abbreviated Diagnostic_procedure mental Diagnostic_procedure test Diagnostic_procedure score Diagnostic_procedure improved Lab_value to 10/10.The serum Detailed_description ammonia Diagnostic_procedure normalised Lab_value and valproate Diagnostic_procedure levels decreased Lab_value to the therapeutic Lab_value range Lab_value .
After Date 4 Date   days Date she was discharged Clinical_event home Nonbiological_location .
Results of investigations Diagnostic_procedure of her urea Detailed_description cycle Detailed_description were awaited.
Three Date weeks Date postdischarge, the patient was clinically stable Lab_value in terms of mental Diagnostic_procedure functioning Diagnostic_procedure , having had no further episodes of confusion Sign_symptom or drowsiness Sign_symptom .
However, she continued to have fatigue Sign_symptom and walking Sign_symptom difficulties Sign_symptom (due to residual Detailed_description leg Biological_structure weakness Sign_symptom ).
Results of her serum Detailed_description amino Diagnostic_procedure acids Diagnostic_procedure revealed that our patient had carnitine Disease_disorder deficiency Disease_disorder evident by low Lab_value acyl Diagnostic_procedure - carnitine Diagnostic_procedure , low Lab_value free Detailed_description serum Detailed_description carnitine Diagnostic_procedure ( 14.2 Lab_value   μmol/L Lab_value , normal range: 23–52) and low Lab_value total Detailed_description serum Detailed_description carnitine Diagnostic_procedure ( 19.9 Lab_value   μmol/L Lab_value , normal range: 27–63).
She was started on oral Administration carnitine Medication 1 Dosage   g Dosage twice Dosage daily Dosage .
Within Date 2 Date   weeks Date , her symptoms Sign_symptom resolved completely with normalisation Lab_value of serum Detailed_description carnitine Diagnostic_procedure levels ( free Detailed_description carnitine Diagnostic_procedure 25.2 Lab_value   μmol/L Lab_value and total Detailed_description carnitine Diagnostic_procedure of 41.3 Lab_value   μmol/L Lab_value ).
The sodium Medication valproate Medication was initially stopped completely, but due to a serious relapse Detailed_description of the patient's schizo Disease_disorder - affective Disease_disorder disorder Disease_disorder , it was restarted and she is now well Sign_symptom on valproate Medication 1 Dosage   g Dosage once Dosage daily Dosage and long Detailed_description - term Detailed_description carnitine Medication supplements Medication .