24781756 Visualization

The affected individual, a male Sex , was the fourth Family_history child Family_history born to an Arab Family_history Muslim Family_history family Family_history of Family_history Palestinian Family_history origin Family_history .
Parents Family_history are Family_history first Detailed_description cousins Detailed_description .
One Family_history sibling, Family_history a Family_history girl Family_history died Family_history at Family_history the Family_history age Family_history of Family_history 1 Family_history month Family_history due Family_history to Family_history SIDS Family_history according Family_history to Family_history parents Family_history , without any investigation.
Informed consent for muscle Biological_structure , skin Biological_structure biopsy Diagnostic_procedure and exome Detailed_description sequencing Diagnostic_procedure was obtained from the parents, and the study was approved by the local institutional review board.
During pregnancy, the patient was suspected to have IUGR Disease_disorder and was delivered Clinical_event by Cesarian Therapeutic_procedure section Therapeutic_procedure at 36+2 Date gestational Date weeks Date with Apgar Diagnostic_procedure scores 9 Lab_value and 10 Lab_value .
Birth Diagnostic_procedure weight Diagnostic_procedure was 2.3 Lab_value   kg Lab_value ( 10th Lab_value percentile Lab_value ) and head Diagnostic_procedure circumference Diagnostic_procedure 32 Lab_value   cm Lab_value ( 10th Lab_value percentile Lab_value ).
Physical Diagnostic_procedure exam Diagnostic_procedure after birth Clinical_event , detected a systolic Sign_symptom murmur Sign_symptom 3/6 Lab_value .
On the first Date day Date of Date life Date , the patient developed metabolic Disease_disorder acidosis Disease_disorder with lactate Diagnostic_procedure level of 27 Lab_value   mm Lab_value (normal range 0.5–2.4 mm) and elevated Lab_value ammonia Diagnostic_procedure levels 277 Lab_value   μm Lab_value (normal range 10–60 μm).
Metabolic Diagnostic_procedure work Diagnostic_procedure up Diagnostic_procedure showed normal Lab_value acylcarnitines Diagnostic_procedure , elevated Lab_value alanine Diagnostic_procedure level 1400 Lab_value   μm Lab_value (normal <700 μm), and urine Detailed_description organic Diagnostic_procedure acids Diagnostic_procedure showed increased lactic Sign_symptom acidosis Sign_symptom and ketones Sign_symptom .
Chest Biological_structure X Diagnostic_procedure - ray Diagnostic_procedure revealed cardiomegaly Sign_symptom , and cardiac Biological_structure Echo Diagnostic_procedure revealed symmetrical Detailed_description left Sign_symptom ventricular Sign_symptom hypertrophy Sign_symptom tricuspid Sign_symptom regurge Sign_symptom and pulmonary Sign_symptom hypertension Sign_symptom .
The patient was transported Clinical_event to the NICU Nonbiological_location and treated with bicarbonate Medication , acetate Medication and diuretics Medication .
At the age of 4 Date days Date , quadriceps Biological_structure muscle Biological_structure biopsy Diagnostic_procedure was performed.
Pathology Diagnostic_procedure showed decreased Lab_value cytochrome Diagnostic_procedure c Diagnostic_procedure oxidase Diagnostic_procedure stain Diagnostic_procedure .
Brain Biological_structure ultrasound Diagnostic_procedure performed at age 5 Date days Date was normal Lab_value .
Subsequently, head Diagnostic_procedure circumference Diagnostic_procedure grew Lab_value rapidly Lab_value adding Lab_value 13 Lab_value centimeters Lab_value by age 35 Date days Date , repeated brain Biological_structure US Diagnostic_procedure revealed dilated Sign_symptom ventricles Biological_structure confirmed by head Biological_structure CT Diagnostic_procedure , which also showed subcortical Biological_structure and white Biological_structure matter Biological_structure cortical Biological_structure hemorrhage Sign_symptom in the occipital Biological_structure region Biological_structure .
At 15 Date weeks Date , a ventriculoperitoneal Detailed_description ( VP Detailed_description ) shunt Therapeutic_procedure was inserted.
Head Biological_structure CT Diagnostic_procedure performed at age 2 Date years Date showed prominent dilatation Sign_symptom of the ventricles Biological_structure (Figure 1).
Due to hypotonia Disease_disorder with feeding Disease_disorder difficulties Disease_disorder and recurrent Detailed_description aspirations Disease_disorder , a percutaneous Detailed_description endoscopic Detailed_description gastrostomy Detailed_description ( PEG Detailed_description ) feeding Therapeutic_procedure tube Therapeutic_procedure was inserted at age 10 Date weeks Date .
Eye Biological_structure examination Diagnostic_procedure at the age of 15 Date weeks Date revealed cortical Biological_structure blindness Disease_disorder .
Hearing Diagnostic_procedure test Diagnostic_procedure ABR Diagnostic_procedure was normal Lab_value .
Repeated cardiac Biological_structure Echo Diagnostic_procedure continued to show mild Severity tricuspid Sign_symptom regurge Sign_symptom , mild Severity left Sign_symptom ventricular Sign_symptom hypertrophy Sign_symptom ( LVH Sign_symptom ) and pulmonary Sign_symptom hypertension Sign_symptom ( PHTN Sign_symptom ) in the first Date months Date of Date life Date .
At the age of 4 Date months Date , he started developing hypertrophic Detailed_description obstructive Detailed_description cardiomyopathy Disease_disorder , he was started on diuretics Medication and beta Medication blockers Medication and later calcium Medication channel Medication blockers Medication were added; follow-up Echo Diagnostic_procedure at the age of 2 Date years Date revealed improvement in the LVH Sign_symptom and no PHTN Sign_symptom .
Coenzyme Medication Q10 Medication supplementation ( 60 Dosage   mg Dosage twice Dosage daily Dosage ) was initiated at 4 Date months Date but discontinued Detailed_description by the parents Subject .
In the following Duration months Duration , the patient was admitted Clinical_event several Frequency times Frequency to the hospital Nonbiological_location mainly due to chest Biological_structure infections Disease_disorder , shunt Disease_disorder malfunctioning Disease_disorder and fevers Sign_symptom .
He died Outcome at the age Date of Date 30 Date months Date due to severe Severity hypoxemia Sign_symptom after a febrile Disease_disorder illness Disease_disorder with chest Biological_structure infection Disease_disorder and pulmonary Biological_structure edema Sign_symptom ; parents Subject refused Detailed_description mechanical Therapeutic_procedure ventilation Therapeutic_procedure and refused Detailed_description reanimation Therapeutic_procedure .