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A 14 Age - month Age - old Age boy Sex was referred Clinical_event to our hospital Nonbiological_location from Nonbiological_location another Nonbiological_location hospital Nonbiological_location because of dilated Sign_symptom and hypertrophied Sign_symptom left Biological_structure ventricle Biological_structure ( LV Biological_structure ), neutropenia Sign_symptom , and developmental Disease_disorder delay Disease_disorder on 27 Date October Date 2011 Date .
He was born Clinical_event at full Detailed_description term Detailed_description , with a body Diagnostic_procedure weight Diagnostic_procedure of 3.2 Lab_value kg Lab_value .
Sixteen Date days Date after Date birth, he was hospitalized Clinical_event owing to persistent Detailed_description irritability Sign_symptom .
A chest Biological_structure radiograph Diagnostic_procedure showed cardiomegaly Sign_symptom , and an echocardiogram Diagnostic_procedure revealed decreased Qualitative_concept LV Diagnostic_procedure contractility Diagnostic_procedure ( ejection Diagnostic_procedure fraction Diagnostic_procedure : 24% Lab_value ).
Under the impression of myocarditis Disease_disorder , he had been managed Therapeutic_procedure for 1 Duration yr Duration before presentation Clinical_event in our hospital Nonbiological_location .
Moreover, the patient showed feeding Sign_symptom difficulty Sign_symptom and developmental Sign_symptom delay Sign_symptom from birth Clinical_event .
Before referral Clinical_event , he had been admitted Clinical_event to other Nonbiological_location hospitals Nonbiological_location 7 Frequency times Frequency because of infection Disease_disorder episodes.
He was taking furosemide Medication , spironolactone Medication , enalapril Medication , and carvedilol Medication before referral Clinical_event .
When he was referred Clinical_event to our hospital Nonbiological_location at 14 Date months Date old Date , his body Diagnostic_procedure weight Diagnostic_procedure was 6 Lab_value kg Lab_value ( less Lab_value than Lab_value 3rd Lab_value percentile Lab_value ) and his height Diagnostic_procedure was 71 Lab_value cm Lab_value ( less Lab_value than Lab_value 3rd Lab_value percentile Lab_value ).
His overall motor Diagnostic_procedure development Diagnostic_procedure was delayed Lab_value , and he could not sit Activity alone Activity .
He could Activity say Activity "mama" Activity and Activity "papa." Activity The recorded blood Diagnostic_procedure pressure Diagnostic_procedure and heart Diagnostic_procedure rate Diagnostic_procedure were 94/30 Lab_value mmHg Lab_value and 132 Lab_value beats Lab_value per Lab_value minute Lab_value , respectively.
On physical Diagnostic_procedure examination Diagnostic_procedure , no definite heart Sign_symptom murmur Sign_symptom was audible and the liver Biological_structure was not palpable Sign_symptom .
He also showed persistent Detailed_description neutropenia Sign_symptom , which started during his stay Clinical_event in the previous Nonbiological_location hospital Nonbiological_location .
His WBC Diagnostic_procedure and neutrophil Diagnostic_procedure counts were 8,800/µL Lab_value and only 2% Lab_value ( 176/µL Lab_value ), respectively.
The B Diagnostic_procedure - natriuretic Diagnostic_procedure peptide Diagnostic_procedure level was 1,045 Lab_value pg/mL.
A chest Biological_structure radiograph Diagnostic_procedure showed mild Severity cardiomegaly Sign_symptom ( cardiothoracic Diagnostic_procedure ratio Diagnostic_procedure : 62.8% Lab_value ; Fig.1A), and an electrocardiogram Diagnostic_procedure showed a low Lab_value QRS Diagnostic_procedure voltage Diagnostic_procedure at the limb Diagnostic_procedure leads Diagnostic_procedure .
An echocardiogram Diagnostic_procedure revealed a dilated Sign_symptom and hypertrophied Sign_symptom globular Sign_symptom LV Biological_structure with a hypertrophied Sign_symptom papillary Biological_structure muscle Biological_structure and hyper Sign_symptom - trabeculation Sign_symptom , which did not meet the criteria of LV Biological_structure non Disease_disorder - compaction Disease_disorder .
The other echocardiographic Diagnostic_procedure parameters Diagnostic_procedure were as follows: LV Biological_structure internal Diagnostic_procedure diameter Diagnostic_procedure at Diagnostic_procedure diastole Diagnostic_procedure , 37.7 Lab_value mm Lab_value (Z = 10.2); ejection Diagnostic_procedure fraction Diagnostic_procedure , 36.6% Lab_value ; and LV Biological_structure mass Diagnostic_procedure index Diagnostic_procedure , 75.6 Lab_value g Lab_value (Z = 6.3; Fig.1B).
To rule out the systemic cause of the dilated Sign_symptom and hypertrophied Sign_symptom LV Biological_structure , we performed a thoraco Detailed_description - abdominal Detailed_description computed Diagnostic_procedure tomographic Diagnostic_procedure ( CT Diagnostic_procedure ) angiography Diagnostic_procedure with contrast Detailed_description dye Detailed_description .
The CT Diagnostic_procedure findings showed no abnormality Sign_symptom in the kidney Biological_structure and other organs Biological_structure and vessels Biological_structure .
However, after undergoing CT Diagnostic_procedure angiography Diagnostic_procedure , the patient showed abrupt Detailed_description high Severity - grade Severity spiking Detailed_description fever Sign_symptom (Fig.2) and developed secretory Detailed_description diarrhea Sign_symptom ( 800 Volume cc Volume per Volume day Volume ) associated with metabolic Disease_disorder acidosis Disease_disorder .
At this time, his WBC Diagnostic_procedure and neutrophil Diagnostic_procedure counts decreased Lab_value to 3,290/µL Lab_value and 1% Lab_value ( 33/µL Lab_value ), respectively.
The B Diagnostic_procedure - natriuretic Diagnostic_procedure peptide Diagnostic_procedure level was greater Lab_value than Lab_value 4,901 Lab_value pg/mL.
He did not show associated respiratory Sign_symptom symptoms Sign_symptom .
The results of the respiratory Detailed_description and gastrointestinal Detailed_description viral Diagnostic_procedure studies Diagnostic_procedure were negative Lab_value , and the blood Detailed_description and stool Detailed_description cultures Diagnostic_procedure were negative Lab_value for pathogens.
The C Diagnostic_procedure - reactive Diagnostic_procedure protein Diagnostic_procedure level was 7.08 Lab_value mg/dL.
Despite supportive Therapeutic_procedure care Therapeutic_procedure including intravenous Administration fluid Medication resuscitation Medication and empirical Detailed_description antibiotics Medication , the patient's condition Diagnostic_procedure worsened Lab_value , with aggravated metabolic Disease_disorder acidosis Disease_disorder and respiratory Sign_symptom difficulty Sign_symptom , requiring transfer Clinical_event to the intensive Nonbiological_location care Nonbiological_location unit Nonbiological_location ( ICU Nonbiological_location ).
Just before the ICU Nonbiological_location transfer Clinical_event , the serum Detailed_description pH Diagnostic_procedure was 6.881 Lab_value ; bicarbonate Diagnostic_procedure level, 7.8 Lab_value mmol/L Lab_value ; and total CO2 Diagnostic_procedure was 41.4 Lab_value mm Lab_value Hg Lab_value .
Although the patient had been treated with intensive ventilator Therapeutic_procedure care, several Quantitative_concept inotropic Medication agents Medication , and other supportive Therapeutic_procedure care Therapeutic_procedure measures, he eventually died Outcome from the aggravated Detailed_description metabolic Disease_disorder acidosis Disease_disorder and acutely Detailed_description decompensated Detailed_description heart Disease_disorder failure Disease_disorder 7 Date days Date after Date the ICU Nonbiological_location care Clinical_event .
During the stay Clinical_event in ICU Nonbiological_location , we performed genetic Diagnostic_procedure analysis Diagnostic_procedure for Detailed_description Barth Detailed_description syndrome Detailed_description from the evidence of displayed cardiomyopathy Disease_disorder , neutropenia Sign_symptom , and developmental Disease_disorder delay Disease_disorder .
The gene Diagnostic_procedure sequence Diagnostic_procedure analysis Diagnostic_procedure revealed that his TAZ Detailed_description gene Detailed_description harbored a novel hemizygous Detailed_description frameshift Detailed_description mutation Lab_value , c.227delC Lab_value ( p.Pro76LeufsX7 Lab_value ), which he inherited Detailed_description from his mother Subject (Fig.3).