Clinicopathology and Diagnosis Delay in a 40-Year-Old with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE).

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive and fatal multisystem metabolic disorder. It presents with wide-ranging gastrointestinal and neurologic symptoms. It is caused by a mutation in the TYMP gene which impairs thymidine phosphorylase (TP) activity, therefore leading to the accumulation of thymidine and deoxyuridine in plasma and tissues. Thus, MNGIE can be diagnosed by findings of high levels of thymidine and deoxyuridine. Herein, we present the case of a 40-year-old male who presented with diarrhea, vomiting, and abdominal pain, severe weight loss, neurologic deficits, and distal motor weakness progressing over a period of 13 years. The combination of this broad clinical picture along with results of magnetic resonance imaging, electromyography, colonic biopsies, genetic testing, and elevated plasma and tissue thymidine and deoxyuridine levels confirmed the diagnosis of MNGIE. TYMP gene mutation impairs TP function. TP mutations in the nuclear DNA lead to mitochondrial DNA deletions causing mitochondrial failure and ultimately cell death. Treatment modalities are targeting the restoration of TP activity or aiming to decrease the high levels of thymidine and pyrimide. However, diagnosing this disease is still a challenge and often overdue. This patient's 13-year delay in diagnosis shows the importance of a complete neurological exam and muscle strength testing in patients with gastrointestinal symptoms. The diagnosis of MNGIE requires interdepartmental collaborative work for diagnosis delay prevention and for optimal patient care.

Herpes zoster infection and cardiac arrest.

We present a case of post herpetic neuralgia in a patient admitted with a prior herpetic infection complicated by recurrent episodes of asystole and cardiac arrest. We first tried medical therapy with the use of high doses of intravenous analgesics, opiates, carbamazepine and phenytoin. However, the high recurrence rate of the pain episodes with concomitant cardiac arrest and cardiopulmonary resuscitation warranted first the placement of a temporary pacing lead, and shortly after a permanent device as a rescue procedure. This case illustrates the treatment difficulties in such an uncommon and extreme situation.

Thyrotoxic periodic paralysis. A case report.

Thyrotoxic hypokalemic periodic paralysis (TPP)--a rare complication of thyrotoxicosis and a medical emergency--is characterized by recurrent episodes of muscle weakness and hypokalemia associated with hyperthyroidism. We report a case of TPP in a 38-year-old white Lebanese male. The patient suffered from severe muscle weakness of the upper and lower limbs. His blood tests revealed hypokalemia (k: 2.4 mEq/L), low thyroid-stimulating hormone TSH (0.001 microIU/mL) and normal levels of thyroid hormones. The thyroid scan showed a hot nodule. His paralysis resolved with IV potassium. The patient was treated with propranolol and radioactive iodine with complete remission of the hyperthyroidism and the paralysis. A discussion of the clinical and pathophysiological features and treatment of TPP is presented.