Elevation of serum creatine phosphokinase during growth hormone treatment in patients with multiple pituitary hormone deficiency.

Serum creatinine phosphokinase (s-CPK) increased to more than 500 U/l in 5 out of 21 patients with growth hormone (GH) deficiency during the 2 years of treatment with biosynthetic GH. In three of these five patients, s-CPK had elevated gradually after the start of GH treatment and remained high in one patient except in the period when GH injection was interrupted, and gradually decreased in the other two patients during treatment. These three patients had complete GH deficiency associated with multiple pituitary hormone deficiency due to pituitary stalk transection. One of the remaining two patients had Noonan syndrome and his s-CPK levels before therapy were relatively high. The fifth patient was a baseball athlete and the elevation of s-CPK seemed to be attributable to the strenuous exercise. Conclusion. s-CPK increases significantly in a certain group of patients with GH deficiency during GH replacement therapy. Measurement of s-CPK is to be included in the follow up laboratory tests at least in the 1st treatment year to evaluate the potential hazardous effects of GH on muscle.

Type 3 GM1 gangliosidosis: clinical and neuroradiological findings in an 11-year-old girl.

An 11-year-old Japanese girl was diagnosed as having type 3 GM1 gangliosidosis by clinical symptoms and enzyme assay. She was the youngest among the patients with type 3 GM1 gangliosidosis whose clinical and neuroradiological findings have been documented. Clumsiness since early infancy and dystonia since early childhood which progressed slowly without mental deterioration and dysmorphism led us to the diagnosis of type 3 GM1 gangliosidosis. Genotype determination showed point mutation in exon 2 of the beta-galactosidase gene, which is common among the patients reported in Japan. T2-weighted MRI demonstrated bilateral symmetrical hypointensity in the putamen and globus pallidus. Single photon emission computed tomography using 99mTc-HMPAO showed bilateral hyperperfusion in the basal ganglia which decreased gradually during 1 year of observation. Twenty-two patients with type 3 GM1 gangliosidosis reported in the literature whose onset was at under 15 years of age were reviewed.

Pyridoxine-dependent seizures: report of a case with atypical clinical features and abnormal MRI scans.

A Japanese girl with atypical pyridoxine-dependent seizures is reported. Until 9 months of age the seizures had been controlled by conventional anticonvulsants. The initial administration of pyridoxine was followed by a collapse; the suppression-burst pattern changed to an almost flat pattern in the EEG. T1- and T2-weighted magnetic resonance imaging (MRI) scans showed poor differentiation between white and gray matter, and T2-weighted MRI scans showed periventricular hyperintensity areas adjacent to the posterior horns of lateral ventricles. The findings in this patient indicate that pyridoxine should be given to infants with intractable epilepsy, regardless of the response to anticonvulsants, and that resuscitation facilities should be available during such a trial.