Response to Early Coenzyme Q10 Supplementation Is not Sustained in CoQ10 Deficiency Caused by CoQ2 Mutation.

BACKGROUND: COQ2 mutations cause a rare infantile multisystemic disease with heterogeneous clinical features. Promising results have been reported in response to Coenzyme Q10 treatment, especially for kidney involvement, but little is known about the long-term outcomes. METHODS: We report four new patients from two families with the c.437G→A (p.Ser146Asn) mutation in COQ2 and the outcomes of two patients after long-term coenzyme Q10 treatment. RESULTS: Index cases from two families presented with vomiting, nephrotic range proteinuria, and diabetes in early infancy. These patients were diagnosed with coenzyme Q10 deficiency and died shortly after diagnosis. Siblings of the index cases later presented with neonatal diabetes and proteinuria and were diagnosed at the first day of life. Coenzyme Q10 treatment was started immediately. The siblings responded dramatically to coenzyme Q10 treatment with normalized glucose and proteinuria levels, but they developed refractory focal clonic seizures beginning at three months of life that progressed to encephalopathy. CONCLUSIONS: In our cohort with CoQ10 deficiency, neurological involvement did not improve with oral coenzyme Q10 treatment despite the initial recovery from the diabetes and nephrotic syndrome.

Transient splenial lesion in a case with carbon monoxide poisoning: A clue supporting the excitotoxicity hypothesis?

Transient splenial lesions of the corpus callosum are uncommon radiologic findings seen in a number of clinical conditions. Awareness of these lesions is crucial to prevent further invasive investigation and intervention. We report a unique case of transient splenial lesion in a patient with carbon monoxide poisoning.

Wernicke encephalopathy due to thiamine deficiency after surgery on a child with duodenal stenosis.

BACKGROUND: Wernicke encephalopathy is rare in children and is caused by thiamine deficiency. It is characterized by acute or subacute ataxia, altered consciousness, and ophthalmoparesis. Gastroenterological surgery, total parenteral nutrition for short bowel syndrome, and alcoholism are common risk factors for Wernicke encephalopathy. Typical magnetic resonance imaging features include selective symmetrical signal changes in the mammillary bodies, medial thalamus, tectum, periaqueductal region, cranial nerves, cerebellum, red nucleus, dentate nucleus, fornix, splenium, cerebral cortex, and putamen. If left undiagnosed and untreated, the disease may be fatal. PATIENT DESCRIPTION: We describe a 13-year-old boy who developed acute cerebellar findings while receiving total parenteral nutrition after gastroduodenostomy for duodenal stenosis. RESULTS: The diagnosis of Wernicke encephalopathy was based on his clinical history, neurological examination, and imaging results. We immediately started intravenous thiamine replacement therapy. Two weeks later, the patient's clinical signs had resolved except for mild clumsiness, which was observed during his tandem gait examination. CONCLUSION: Our report emphasizes the importance of clinical and magnetic resonance imaging pattern recognition in timely diagnosis, as well as the importance of prompt thiamine replacement therapy. We also demonstrate the importance of thiamine supplementation during total parenteral nutrition after gastrointestinal surgery.

Carotid intima media thickness in adolescents with increased risk for atherosclerosis.

In this study, we aimed to analyze early-onset atherosclerotic changes in adolescents with risk of cardiovascular disease in comparison to healthy controls using carotid intima media thickness (CIMT), homocysteine and markers of endothelial function as indicators. Children aged 10 years or older, all pubertal, with type 1 diabetes mellitus (T1DM), obesity, or obesity with glucose intolerance and age- and sex-matched healthy controls were included in the study. Endothelial markers (von Willebrand factor [vWF], tissue plasminogen activator [tPA], plasminogen activator inhibitor [PAI]-1), CIMT, homocysteine, folic acid, and vitamin B12 levels were measured in all subjects. Mean CIMT of the obese subjects were significantly higher than that of lean diabetic children and healthy controls (p=0.024). There was an independent relationship between CIMT and homocysteine level (b=0.76, p<0.0001). Further, homocysteine was negatively correlated with vitamin B12 (r=-0.20, p<0.001) and folic acid (r=-0.44, p<0.001). Homocysteine is an independent risk factor for early atherosclerosis in adolescents, which may be controlled by supplementation with vitamin B12 and folic acid.