Status dystonicus: a rare case of molybdenum cofactor defici
The present case has been reported in the International Journal of Clinical Pediatrics.

A 10-month-old boy referred to emergency unit because of sudden onset opisthotonic posture. His parents reported that he was previously healthy and had fever and cough for 2 days. No medication was used to treat those symptoms. On the day of presentation while he was playing with toys, he developed opisthotonos suddenly. He was born by cesarean section after a normal pregnancy at 38 weeks of gestation, and was the first child. However previous medical reports of him could not be obtained to confirm that neurodevelopment of his was appropriate.

A physical and neurologic examination revealed a head circumference of 42 cm, a height of 64 cm, and a weight of 5,860 g, all of which were at or below the 5th percentile for his age. He was on opisthotonic posture. He had generalized increase in muscle tone. Deep tendon reflexes were hyperactive. Enteral feeding was impossible.

He was hospitalized in intensive care unit and treatment with diazepam (0.3 mg/kg) and baclofen 2 × 2.5 mg was started. No clinical response was observed. Midazolam infusion (0.2 mg/kg/h) was added to the treatment. Because of unresponsiveness, the dose of baclofen was increased (4 mg/kg/d). Status dystonicus subsided and the patient was relaxed.

The results of routine laboratory investigations of blood and urine involving serum lactate, pyruvate and ammonia, urine and plasma amino acids concentrations were all within normal limits except serum uric acid level (0.3 mg/dL). The repeated uric acid levels were also low. There was increased urinary excretion of sulfite (dipstick test positive).

Brain MRI showed corpus callosum atrophy, enlargement of lateral ventricular dilatation, and multicystic encephalomalacia. The results of ophthalmologic, echocardiographic, abdominal ultrasonographic examinations were all normal. Electroencephalography (EEG) revealed normal sleep pattern and no epileptiform discharges. To confirm, the MOCOD diagnosis, genetic analysis was performed.

Sequencing MOCS1 gene revealed previously unreported homozygote IVS1-1G>A (c.251-1G>A) mutation in the sixth chromosome, p21.2 region. He was discharged on oral baclofen treatment. The patient moved to another city and it was learned that he died 3 months later.

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