--- a
+++ b/processing/MACCROBAT/22781096.txt
@@ -0,0 +1,27 @@
+This 16-year-old boy was the first child to non-consanguineous parents.
+His parents and two younger siblings were healthy.
+He was well until starting school at 7 years of age when he was found to be short in height, slightly myopic, astigmatic and to have subnormal visual acuity.
+Endocrinological investigations were performed that initially revealed borderline values for growth hormone (GH) deficiency and he was therefore treated for a period with GH without any beneficiary effect on his growth.
+At age 16 years, height and weight was −3 SD below the mean compared with a standardized Swedish growth chart.
+Ophthalmological investigations at 10 years of age showed pigmentary retinopathy and optic atrophy.
+An electroretinogram was performed and showed a severe rod cone dystrophy.
+He had decreased visual acuity, visual fields, color vision, and dark adaption.
+Nystagmus has been noted since 14 years of age.
+A year later, photophobia and bilateral cataracts were developed.
+The cataracts were operated on at 16 years of age.
+He is now blind.
+At 14 years of age, he was referred for neurological investigations.
+A clinical examination showed mild ataxia with tremor, dysmetria and gait instability together with mild to moderate muscle weakness, weak to absent tendon reflexes in the lower extremities, and exercise intolerance.
+Audiometric investigations revealed a mild bilateral sensorineural hearing impairment.
+At 15 years of age, he had an unprovoked epileptic seizure and he has since then been treated with levetiracetam.
+Decreased renal function was identified at 15 years of age, with increased serum creatinine to 145 μmol/l (reference interval 30–90 μmol/l), proteinuria with urine albumine at 244–538 mg/l (reference interval<20 mg/l), and urine albumine/creatinine ratio at 44–59 g/mol (reference interval <3 g/mol).
+A renal scintigraphy demonstrated reduced kidney size.
+Cr51-EDTA clearance showed a decreased glomerular filtration rate of 42% of normal.
+The filtration rate decreased over time to 29% of normal at 16 years of age.
+Since 14 years of age, cardiac investigations have demonstrated hypertrophy of the walls of the left ventricle (+3 SD compared with normal) with normal systolic and diastolic function and without obstruction of the outflow.
+Mitochondrial investigations were performed at 14 years of age.
+Blood levels of lactate and pyruvate were 1.6 and 0.096 mmol/l, respectively, leading to a ratio of 33 (reference interval <20), while cerebrospinal fluid (CSF) levels of lactate and pyruvate were 3.6 and 0.137 mmol/l, respectively, leading to a lactate to pyruvate ratio of 26.
+The urinary lactate excretion was normal.
+The CSF albumin was increased to 258 mg/l (reference level <225 mg/l) and he also had an increased CSF/plasma albumin ratio of 7.4 (reference level <5).
+The serum acyl carnitine profile and muscle carnitine levels were normal.
+The serum creatine kinase activity was mildly increased to 5.4 μkat/l (reference interval <3.5 μkat/l).