A 7-YEAR-OLD BOY WITH HAND TREMORS AND A NOVEL MUTATION FOR L-2-HYDROXYGLUTARIC ACIDURIA
Olgac A1,*, Tekin Orgun L2, Ezgü FS1, Biberoǧlu G1, Tümer L1
*Corresponding Author: Dr. Asburce Olgac, Department of Pediatric Metabolism and Nutrition, Gazi University Hospital, Mevlana Bulvarı, Ankara, Turkey. Tel: +90-533-962-7800. Fax: +90-312-202-6027. E-mail: mabolgac@yahoo.com
page: 93

CASE REPORT

A 7-year-old male patient of Turkish origin, was admitted to the hospital because of hand tremors. He was the first child of consanguineous parents (first degree cousins), with an uncomplicated prenatal and natal history, and slight delay of motor milestones. His hand tremors were noticed by his teacher during the first days of elementary school because of difficulty in writing. Written informed consent was obtained from the parents of the patient for DNA analysis, and publication of this case report and any accompanying images. Upon admission, physical examination revealed macrocephaly (head circumference: 54 cm, 97th percentile), with normal weight and height percentiles (weight: 22 kg, 25th-50th percentile, height: 124 cm, 50th percentile). He had intention tremors, walking disability and a slightly ataxic gait. Deep tendon reflexes of lower extremities were hyperactive and clonus was present. Psychometric evaluation showed delayed progression of language (age 3), social (age 5) and fine motor skills (age 5). Laboratory analysis showed a normal complete blood count, biocehmistry, blood gas analysis, renal and liver function tests and electrolyte levels. Thyroid function tests, vitamin B12 and folic acid levels, autoimmune markers markers including ANA, anti-ds DNA, C-ANCA, P-ANCA, were within reference ranges. Cranial magnetic resonance imaging (MRI) showed signal changes in the supratentorial region, subcortical white matter, caudate and lentiform nuclei with sparing of the peri ventricular white matter, without any sign of cerebellar involvement [Figure 1(a), 1(b), 1(c)]. In accordance with the cranial MRI findings, an inborn error of metabolism was suspected, and metabolic tests were performed. Tandem mass spectrometry (MS/MS) analysis using dried blood spots revealed normal results. Urine organic acid analysis peformed with gas chromatography-mass spectrometry (GC-MS) method showed increased excretion of L2HG acid (250.87 mmol/mol cr, normal range: 1.3-13.9). Analysis of the L2HGDH gene showed a novel mutation at c.368A>G, p.(Tyr123Cys). The parents were shown to carry the same mutation in a heterozygous state. Riboflavin (vitamin B2) 150 mg/d and carnitine 100 gm/kg/day was initiated. The patient has been followed at our clinic for 4 years. No change in the amount of L2HG acid excretion has been detected since. He had a right focal seizure at the age of 10 years with no pathological findings in electroencephalography (EEG). He is now in a stable condition with no deterioration in neurological condition. Cranial MRI has been repeated recently, with no signs of progression of disease and without any findings of intra cerebral malignancies.



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