22781096 Visualization

This 16 Age - year Age - old Age boy Sex was the first child to non Family_history - consanguineous Family_history parents Family_history .
His Family_history parents Family_history and Family_history two Family_history younger Family_history siblings Family_history were Family_history healthy Family_history .
He was well until starting school at 7 Date years Date of Date age Date when he was found to be short Sign_symptom in Sign_symptom height Sign_symptom , slightly Sign_symptom myopic Sign_symptom , astigmatic Sign_symptom and to have subnormal Sign_symptom visual Sign_symptom acuity Sign_symptom .
Endocrinological Diagnostic_procedure investigations Diagnostic_procedure were performed that initially revealed borderline Lab_value values Lab_value for growth Sign_symptom hormone Sign_symptom (GH) Sign_symptom deficiency Sign_symptom and he was therefore treated Clinical_event for a period with GH Medication without any beneficiary Sign_symptom effect Sign_symptom on Sign_symptom his Sign_symptom growth Sign_symptom .
At age 16 Date years Date , height Sign_symptom and Sign_symptom weight Sign_symptom was Sign_symptom −3 SD Sign_symptom below Sign_symptom the Sign_symptom mean Sign_symptom compared with a standardized Swedish growth chart.
Ophthalmological Diagnostic_procedure investigations Diagnostic_procedure at 10 Date years Date of Date age Date showed pigmentary Sign_symptom retinopathy Sign_symptom and optic Sign_symptom atrophy Sign_symptom .
An electroretinogram Diagnostic_procedure was performed and showed a severe Severity rod Sign_symptom cone Sign_symptom dystrophy Sign_symptom .
He had decreased Lab_value visual Sign_symptom acuity Sign_symptom , visual Sign_symptom fields Sign_symptom , color Sign_symptom vision Sign_symptom , and dark Sign_symptom adaption Sign_symptom .
Nystagmus Sign_symptom has been noted since 14 Date years Date of Date age Date .
A Date year Date later Date , photophobia Sign_symptom and bilateral Sign_symptom cataracts Sign_symptom were developed.
The cataracts Therapeutic_procedure were Therapeutic_procedure operated Therapeutic_procedure on Therapeutic_procedure at 16 Date years Date of Date age Date .
He is now Date blind Sign_symptom .
At 14 Date years Date of Date age Date , he was referred for neurological Diagnostic_procedure investigations Diagnostic_procedure .
A clinical Diagnostic_procedure examination Diagnostic_procedure showed mild Severity ataxia Sign_symptom with Sign_symptom tremor Sign_symptom , dysmetria Sign_symptom and gait Sign_symptom instability Sign_symptom together with mild Severity to Severity moderate Severity muscle Sign_symptom weakness Sign_symptom , weak Severity to Severity absent Severity tendon Sign_symptom reflexes Sign_symptom in the lower Biological_structure extremities Biological_structure , and exercise Sign_symptom intolerance Sign_symptom .
Audiometric Diagnostic_procedure investigations Diagnostic_procedure revealed a mild Severity bilateral Detailed_description sensorineural Sign_symptom hearing Sign_symptom impairment Sign_symptom .
At 15 Date years Date of Date age Date , he had an unprovoked Detailed_description epileptic Sign_symptom seizure Sign_symptom and he has since then been treated Clinical_event with levetiracetam Medication .
Decreased Sign_symptom renal Sign_symptom function Sign_symptom was identified at 15 Date years Date of Date age Date , with increased Lab_value serum Diagnostic_procedure creatinine Diagnostic_procedure to 145 Lab_value   μmol/l Lab_value (reference interval 30–90 μmol/l), proteinuria Sign_symptom with urine Diagnostic_procedure albumine Diagnostic_procedure at 244–538  mg/l Lab_value (reference interval<20 mg/l), and urine Diagnostic_procedure albumine/creatinine Diagnostic_procedure ratio at 44–59  g/mol Lab_value (reference interval <3 g/mol).
A renal Biological_structure scintigraphy Diagnostic_procedure demonstrated reduced Sign_symptom kidney Sign_symptom size Sign_symptom .
Cr51 Diagnostic_procedure - EDTA Diagnostic_procedure clearance Diagnostic_procedure showed a decreased Lab_value glomerular Diagnostic_procedure filtration Diagnostic_procedure rate Diagnostic_procedure of 42% Lab_value of Lab_value normal. Lab_value
The filtration Coreference rate Coreference decreased Lab_value over time to 29% Lab_value of Lab_value normal Lab_value at 16 Date years Date of Date age Date .
Since 14 Date years Date of Date age Date , cardiac Diagnostic_procedure investigations Diagnostic_procedure have demonstrated hypertrophy Sign_symptom of the walls Biological_structure of Biological_structure the Biological_structure left Biological_structure ventricle Biological_structure (+3 SD compared with normal) with normal Severity systolic Sign_symptom and Sign_symptom diastolic Sign_symptom function Sign_symptom and without obstruction Sign_symptom of Sign_symptom the Sign_symptom outflow Sign_symptom .
Mitochondrial Diagnostic_procedure investigations Diagnostic_procedure were performed at 14 Date years Date of Date age Date .
Blood Diagnostic_procedure levels Diagnostic_procedure of lactate Diagnostic_procedure and pyruvate Diagnostic_procedure were 1.6 Lab_value and 0.096 Lab_value   mmol/l Lab_value , respectively, leading to a ratio Diagnostic_procedure of 33 Lab_value (reference interval <20), while cerebrospinal Diagnostic_procedure fluid Diagnostic_procedure ( CSF Diagnostic_procedure ) levels of lactate Diagnostic_procedure and pyruvate Diagnostic_procedure were 3.6 Lab_value and 0.137 Lab_value   mmol/l, Lab_value respectively, leading to a lactate Diagnostic_procedure to Diagnostic_procedure pyruvate Diagnostic_procedure ratio Diagnostic_procedure of 26 Lab_value .
The urinary Diagnostic_procedure lactate Diagnostic_procedure excretion Diagnostic_procedure was normal Lab_value .
The CSF Diagnostic_procedure albumin Diagnostic_procedure was increased Lab_value to 258 Lab_value   mg/l Lab_value (reference level <225 mg/l) and he also had an increased Lab_value CSF/plasma Diagnostic_procedure albumin Diagnostic_procedure ratio Diagnostic_procedure of 7.4 Lab_value (reference level <5).
The serum Diagnostic_procedure acyl Diagnostic_procedure carnitine Diagnostic_procedure profile Diagnostic_procedure and muscle Diagnostic_procedure carnitine Diagnostic_procedure levels Diagnostic_procedure were normal Lab_value .
The serum Diagnostic_procedure creatine Diagnostic_procedure kinase Diagnostic_procedure activity Diagnostic_procedure was mildly Lab_value increased Lab_value to 5.4 Lab_value   μkat/l Lab_value (reference interval <3.5 μkat/l).