Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism

BACKGROUND: Hyperammonemia, hypoglycemia, hepatopathy, and ventricular tachycardia are common presenting features of carnitine-acylcarnitine translocase deficiency (Mendelian Inheritance in Man database: *212138), a mitochondrial fatty acid oxidation disorder with a lethal prognosis. These features have not been identified as the presenting features of mitochondrial cytopathy in the neonatal period. CASE PRESENTATION: We describe an atypical presentation of mitochondrial cytopathy in a 2 day-old neonate. She presented with a Reye-like syndrome episode, premature ventricular contractions and ventricular tachycardia. Initial laboratory evaluation exhibited a large amount of 3-methylglutaconic acid on urine organic acid analysis, mild orotic aciduria and a nonspecific abnormal acylcarnitine profile. The evaluation for carnitine-acylcarnitine translocase deficiency and other fatty acid oxidation disorders was negative. The patient later developed a hypertrophic cardiomyopathy and continued to be affected by recurrent Reye-like syndrome episodes triggered by infections. A muscle biopsy exhibited signs of a mitochondrial cytopathy. During the course of her disease, her Reye-like syndrome episodes have subsided; however, cardiomyopathy has persisted along with fatigue and exercise intolerance. CONCLUSIONS: This case illustrates that, in the neonatal period, hyperammonemia and ventricular tachycardia may be the presenting features of a lethal carnitine-acylcarnitine translocase deficiency or of a mitochondrial cytopathy, associated with a milder clinical course. This association broadens the spectrum of presenting phenotypes observed in patients with disturbed mitochondrial energy metabolism. Also, the presence of 3-methylglutaconic aciduria suggests mitochondrial dysfunction and mild orotic aciduria could potentially be used as a marker of mitochondrial disease

Brachial Plexopathy/Nerve Root Avulsion in a Football Player: The Role of Electrodiagnostics

Electromyography (EMG) studies are a useful tool in anatomical localization of peripheral nerve and brachial plexus injuries. They are especially helpful in distinguishing between brachial plexopathy and nerve root injuries where surgical intervention may be indicated. EMG can also assist in providing prognostic information after nerve injury as well as after nerve repair. In this case report, a football player presented with weakness in his right upper limb after a traction/traumatic injury to the right brachial plexus. EMG studies revealed evidence of both pre- and postganglionic injury to multiple cervical roots. The injury was substantial enough to cause nerve root avulsions involving the C6 and C7 levels. Surgical referral led to nerve grafts targeted at regaining function in shoulder abduction and elbow flexion. After surgery, the patient’s progress was monitored utilizing EMG to assist in identifying true axonal regeneration