24161539 Visualization

This young Age boy Sex is the first child of healthy Detailed_description non Detailed_description - consanguineous Detailed_description , white Personal_background British Personal_background parents Subject .
He was born Clinical_event at Detailed_description term Detailed_description following an uneventful Detailed_description pregnancy Detailed_description weighing 3132 Weight g Weight (9th–25th centile).
Early Diagnostic_procedure development Diagnostic_procedure was thought to be normal Lab_value .
At approximately Date 6 Date months Date of Date age Date he developed tonic Detailed_description upward Detailed_description eye Sign_symptom deviation Sign_symptom associated with flexion Sign_symptom of his arms Biological_structure and neck Biological_structure consistent with infantile Disease_disorder spasms Disease_disorder .
An electroencephalograph Diagnostic_procedure ( EEG Diagnostic_procedure ) at this time was grossly Lab_value abnormal Lab_value ( hypsarrhythmia Sign_symptom ) and strongly supported a diagnosis of West Disease_disorder Syndrome Disease_disorder .
Cranial Biological_structure MRI Diagnostic_procedure was reported as normal Lab_value .
Prednisolone Medication was prescribed and treated the seizures Sign_symptom effectively.
Steroids Medication were weaned over Duration 6 Duration weeks Duration and he remained seizure Sign_symptom free for a further Duration 6 Duration months Duration .
By the age Date of Date 1 Date year Date , it was apparent that his early developmental Diagnostic_procedure progress Diagnostic_procedure was not Lab_value being Lab_value maintained Lab_value and that he was functioning at the 6–8 month Lab_value developmental Diagnostic_procedure stage Diagnostic_procedure .
Seizures Sign_symptom returned shortly after Date his Date first Date birthday Date and were prolonged Detailed_description , frequent Detailed_description and on Detailed_description occasion Detailed_description focal Detailed_description , involving his right Biological_structure arm Biological_structure , leg Biological_structure and right Biological_structure side Biological_structure of Biological_structure face Biological_structure .
Clonazepam Medication briefly improved seizure Sign_symptom frequency, but subsequently his epilepsy Disease_disorder has proved refractory Detailed_description to Detailed_description various Detailed_description combinations Detailed_description of Detailed_description anticonvulsant Detailed_description therapy Detailed_description .
Prolonged Detailed_description seizures Sign_symptom of more Detailed_description than Detailed_description 60 Detailed_description min Detailed_description have been associated with a stepwise Lab_value regression Lab_value in his neurodevelopment Diagnostic_procedure .
Seizure Sign_symptom semiology is now predominantly one of epilepsia Disease_disorder partialis Disease_disorder continua Disease_disorder involving the right Biological_structure side Biological_structure of Biological_structure his Biological_structure face Biological_structure , right Biological_structure arm Biological_structure and right Biological_structure leg Biological_structure .
The development of focal Detailed_description seizures Sign_symptom and the progressive Detailed_description nature of the condition Coreference prompted a second cranial Biological_structure MRI Diagnostic_procedure at the age Date of Date 2 Date years Date 6 Date months Date .
By contrast with the previous scan, this MRI Diagnostic_procedure revealed symmetrical Detailed_description subcortical Biological_structure white Biological_structure matter Biological_structure lesions Sign_symptom (Fig.1A) with thinning Sign_symptom of the anterior Biological_structure and Biological_structure genu Biological_structure of Biological_structure the Biological_structure corpus Biological_structure callosum Biological_structure (Fig.1B).
On examination Diagnostic_procedure , the patient had small Detailed_description , round Shape , anteriorly Detailed_description rotated Detailed_description ears Biological_structure and a broad Detailed_description nasal Biological_structure root Biological_structure .
He demonstrated no Lab_value visual Diagnostic_procedure awareness Diagnostic_procedure but startled Sign_symptom to Sign_symptom loud Sign_symptom noise Sign_symptom .
Tone Diagnostic_procedure was increased Lab_value in all Biological_structure 4 Biological_structure limbs Biological_structure with internal Sign_symptom rotation Sign_symptom of both Biological_structure legs Biological_structure at Biological_structure the Biological_structure hips Biological_structure .
Reflexes Diagnostic_procedure were pathologically Lab_value brisk Lab_value .
Brief Detailed_description myoclonic Sign_symptom jerks Sign_symptom were evident throughout the examination.