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: 1
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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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