Facial nerve palsy in a thirteen-year-old male youth with Kawasaki disease.

A 13-year-old male youth was hospitalized with Kawasaki disease. In the course of the disease he developed a facial nerve palsy and an aneurysm of the right coronary artery. After treatment with immunoglobulins both complications disappeared within 10 days and 1 month, respectively.

Submandibular salivary gland hypertrophy induced by phenytoin.

A 16-year-old boy with epilepsy developed hypertrophy of the submandibular salivary glands, with high phenytoin (PHT) serum levels. The submandibular salivary glands became normal in 12 days after discontinuation of PHT. Other causes of salivary gland hypertrophy were excluded and we suggest that the hypertrophy was due to PHT.

Rapid diagnosis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency via enzyme activity measurements in leukocytes or platelets using a simple spectrophotometric method.

Patients with 3-hydroxy-3-methylglutaric aciduria due to a deficiency of 3-hydroxy-3-methylglutaryl Coenzyme A lyase usually present with a life-threatening crisis of hypoglycemia, metabolic acidosis and hyperammonemia. Diagnosis of this inborn error of leucine degradation is usually based upon gas-chromatographic analysis of organic acids in a patient's urine. In this paper we describe a simple spectrophotometric method allowing the activity of HMG-CoA lyase to be measured in leukocytes or platelets within a few hours, thus contributing to a rapid, unequivocal diagnosis and subsequent treatment.

A new case of purine nucleoside phosphorylase deficiency: enzymologic, clinical, and immunologic characteristics.

Deficiency of purine nucleoside phosphorylase (PNP) was detected in a 3-yr-old boy who was admitted for investigation of a behavior disorder and spastic diplegia. The urinary excretion of purines, analyzed by high-performance liquid chromatography, showed the presence of large amounts of (deoxy)inosine and (deoxy)guanosine and low uric acid levels. Analysis of the (deoxy)nucleotide pools of erythrocytes showed elevated levels of deoxyguanine nucleotides and NAD and decreased guanine nucleotides.