John U. Crichton

Cerebrospinal fluid values for monoamine metabolites, γ-aminobutyric acid, and other amino compounds in Rett syndrome

We measured concentrations of 3-methoxy-4-hydroxy-phenylglycol, 3,4-dihydroxyphenylacetic acid, homovanillic acid, and 5-hydroxyindoleacetic acid--the metabolites of noradrenaline, dopamine, and serotonin used as central neurotransmitters--in the cerebrospinal fluid (CSF) specimens of five girls with Rett syndrome. These patients met the clinical criteria for both inclusion and exclusion of the diagnosis of Rett syndrome. In contrast to previous reports, cerebral monoamine metabolites were present in normal concentrations in CSF. In addition, concentrations of gamma-aminobutyric acid and of a large number of other amino acids and related compounds were normal in the CSF of patients with the syndrome. We doubt that an underlying biochemical cause for this disorder has yet been discovered.

The neurologic hazards ofdiphenylhydantoin in childhood

Thirteen cases of intoxication due to diphenylhydantoin were recorded in a large general hospital during a period of 5 years. Nine cases of intoxication developed as a result of therapy. In some patients the dosage of the drug was not excessive; similar cases have been described in the literature, generally among adults, in some of whom unusual metabolism of the drug was demonstrated. Early symptoms were uncommon in young children. The diagnosis of intoxication due to the drug was often not suspected. Although irreversible side effects have occasionally been described, all of our patients recovered.

SPINAL CORD DAMAGE: A RARE COMPLICATION OF PURULENT MENINGITIS

Abstract. Tal, Y., Crichton, J. U., Dunn, H. G. and Dolman, C. L. (Department of Paediatrics, University of British Columbia, Vancouver, B.C., Canada). Spinal cord damage: a rare complication of purulent meningits. Acta Paediatr Scand, 69:471, 1980.—Three cases of spinal cord damage following acute bacterial meningitis are described. Two children survived with neurological sequelae, while one died. Autopsy showed extensive spinal cord necrosis. The possible mechanisms for this rare complication are discussed and a possible connection with transient cardiorespiratory arrest is suggested.

Infantile Spasms and Skin Anomalies

Skin anomalies, especially involving pigmentation and haemangiomata, have been found in 43 out of 174 children suffering from a syndrome of infantile spasms. Theoretical considerations concerning the causation of some cases of infantile spasms are discussed.

Bone Age in Children with Minimal Brain Dysfunction

Skeletal maturation was studied in 60 Caucasian Western‐Canadian children (45 boys, 15 girls) with minimal brain dysfunction (MBD), the majority aged from six to 12 years. Four boys and two girls–i.e. 10 per cent of the group–had a bone age more than 2SD below the normal mean for their chronological age (CA) according to the norms established by Greulich and Pyle, and only one boy had a bone age that was significantly advanced. 38 children had bone ages below the mean line for their chronological age, and 13 had bone ages above the mean line. The features of MBD in the six children with significantly delayed bone age did not differ notably from those of the other MBD children, with the exception of one child whose stature and head circumference were both significantly small.

Acute Swelling of the Cerebellum in Childhood

Case 1 A previously healthy, right-handed 11-year-old Vietnamese boy, presented to the emergency department with a severe headache. He had had one moderately severe headache a few months prior, lasting 2 days, without any associated symptoms. He presented on this occasion with a 2-day history of constant occipitofrontal headache of gradually increasing intensity, with little relief from acetaminophen and codeine preparations. Associated symptoms included mild cough, vomiting, phonophobia, and photophobia. He had no history of neck pain, ataxia, rash, sore throat, diarrhea, weak-

Hydrocephalus, mineralizing angiopathy, hypercholesterolemia, and hyperlipoprotein (a)

A boy born at 34 weeks gestation with initially normal development presented with acute hydrocephalus at 22 months. Subsequently his development has been slow and complicated clinically by epilepsy. Upon extensive investigation, he has been found to have extremely elevated lipoprotein(a) levels, hypercholesterolemia (familial), and lesions of the cortex and meninges. Radiologic studies have disclosed a mineralizing angiopathy.