European journal of pediatrics
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Letter Case Reports
Mitochondrial HMG-CoA synthase deficiency: identification of two further patients carrying two novel mutations.
We report two additional patients in whom hypoketotic hypoglycaemia was caused by a deficiency of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (HMCM); two novel mutations were identified (V54M and Y167C), one of which directly involves the catalytic site of the enzyme.
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Over the last 16 years a minitouch regime, i.e., nasal continuous positive airway pressure (n-CPAP) and/or nasal intermittent positive pressure ventilation (n-IPPV), together with a minimal intubation policy has been routinely used for the treatment of respiratory distress syndrome (RDS) in preterm infants. Only 1.39 (1 out of 72) of the extremely low-birth-weight babies admitted to our Neonatal Intensive Care Unit (NICU) and surviving for at least 36 weeks' postconceptional age developed bronchopulmonary dysplasia at 36 weeks (BPD 36-wk). The BPD-36 wk incidence observed in our population is significantly lower than expected (30%) from the literature (p=0.000002). ⋯ Our experience supports the effectiveness of the minitouch regime as a way to ventilate premature babies, reducing BPD risk.
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A 6-year-old male with partial ornithine transcarbamylase (OTC) deficiency had acute and rapidly progressive symmetrical swelling of the head of the caudate nuclei and putamina. Clinical presentation was ataxia and dysarthria progressing to seizures and coma; these symptoms gradually resolved with supportive management. Although he had been recently treated for mild hyperammonemia, there was no evidence of acute metabolic decompensation prior to presentation, and plasma ammonia and amino acids were consistent with good metabolic control. This case is novel in that the neurological insult affected the neostriatum of the basal ganglia and the episode occurred in the absence of an apparent metabolic abnormality, unique observations in a patient with OTC deficiency. ⋯ This case suggests that the pathophysiology of metabolic stroke is complicated. It also argues for an evaluation for metabolic stroke in patients with known inborn errors of metabolism who present with unusual neurological symptoms in the absence of biochemical abnormalities. Similarly, this case suggests that patients presenting with unexplained neurological insults might benefit from an evaluation for an inborn error of metabolism.