Search

The ketogenic diet (KD) is an established, effective nonpharmacologic treatment for intractable childhood epilepsy. The KD is provided differently throughout the world, with occasionally significant variations in its administration. There exists a need for more standardized protocols and management recommendations for clinical and research use. In December 2006, The Charlie Foundation commissioned a panel comprised of 26 pediatric epileptologists and dietitians from nine countries with particular expertise using the KD. This group was created in order to create a consensus statement regarding the clinical management of the KD. Subsequently endorsed by the Practice Committee of the Child Neurology Society, this resultant manuscript addresses issues such as patient selection, pre-KD counseling and evaluation, specific dietary therapy selection, implementation, supplementation, follow-up management, adverse event monitoring, and eventual KD discontinuation. This paper highlights recommendations based on best evidence, including areas of agreement and controversy, unanswered questions, and future research.

Screening tests for genetic metabolic diseases remain extremely useful due to their rapidity, ease of interpretation and substantial reduction of cost. However, interferences in these tests are still a source of concern in laboratory medicine. Cost considerations have so compressed the duration of the medical work-up that the administration of radiologic contrast may often antedate the collection of body fluids for genetic-metabolic testing. It has been found that under these circumstances, certain contrast media may interfere with the urinary studies of amino acids, organic acids, and tests involving ultraviolet absorption such as those concerned with purines, pyrimidines, and related compounds. The consequences of interference may be misdiagnosis, repeated testing, extensive and expensive work-ups, and unnecessary delay and anxiety for the family. As in all testing, it is prudent to avoid medications and atypical diets, if possible. In the case of contrast media, it is a simple matter to collect samples for analysis prior to the administration of radiocontrast so as to avoid the pitfalls and yet not delay the diagnostic work-up.

The Neurological Examination of the Child with Minor Neurological Dysfunction, 3rd edition Mijna Hadders-Algra, 132 pp., Mac Keith Press, 2010, $72 This updated version of Professors Prechtl's and Towen's 1970 edition and Professor Towen's 1979 edition of an age-adapted neurologic examination based on the concept of the developing brain is well-written and includes pictures demonstrating the examination. An included DVD demonstrates …

Errors of commission and omission, chair movements, and reaction times were assessed in fifteen previously diagnosed hyperactive children on a Continuous Performance Test after four drug regimens: amphetamine at doses of 1.6 and 5.0 mg twice a day, as well as 300 mg caffeine administered alone and with 1.6 mg amphetamine twice a day, produced significant reductions in errors of commission and increased reaction times in those children scoring 24 or more on the Conner's Abbreviated Parent Questionnaire. In addition, subjective symptoms on this questionnaire were significantly reduced by all drug treatments. The high (600 mg) daily dose of caffeine was observed to significantly control hyperactive symptoms, however, it also produced a number of side effects as well.

STENOSIS of the aqueduct of Sylvius is a common cause of human hydrocephalus, occurring most often in infancy but also in childhood and in adult life. In a small proportion of cases, aqueductal narrowing occurs in a genetically determined pattern1 or complicates purulent meningitis and neoplastic disease. In most cases, however, the etiology of the stenosis cannot be determined. Recently, in rodents experimentally infected with human myxoviruses aqueductal stenosis and hydrocephalus were found to develop as delayed sequelae of the acute viral infection.2 Furthermore, by the time these abnormalities became apparent, there was no longer any evidence of infection.3 The . . .

Seventy-five normal (control) children were compared to 15 hyperactive children on a Continuous Performance Test over an eight-week period. The control children were observed to have a relatively constant number of correct responses, chair movements, and reaction times throughout the testing period. However, when the hyperactive children were differentiated according to their scores on the Conner's Abbreviated Parent Questionnaire, those children scoring one standard deviation above the normative mean were later revealed to have more errors of commission and omission, chair movements, and a longer reaction time than did the normal control children.

An improved method for the determination of arylsulfatase A, based on the ether solubility of 4-nitrocatechol, has been established. The method has been applied to the diagnosis of metachromatic leukodystrophy and can identify the carrier state. The method is also useful in organ surveys for the enzyme.

A 4-year-old girl with arginosuccinic-aciduria exhibited mental retardation, seizures, ataxia, and abnormal hair. Fasting and postprandial ammonia and blood urea nitrogen levels were maintained within normal limits. The mechanism of urea synthesis, in the face of an apparent enzymic block in the Krebs-Henseleit (urea) cycle, remains unknown. Physical indexes of hair strength were measured directly, and found to be markedly reduced. A diagnosis of trichorrexis nodosa was not established, but the cystine content of the hair was significantly reduced. The cause of the neurological features associated with this amino acid disorder remain speculative.

Argininosuccinicaciduria is a rare genetic error of the Krebs-Henseleit urea cycle due to the absence or deficiency of the enzyme argininosuccinate lyase and is associated with mental retardation, seizures, ataxia, and hepatomegaly. Hyperammonemia may or may not be present, but blood urea levels are always within normal limits. Abnormally fragile hair has been detected in about half of the reported cases, and in some, a morphologic hair alteration termed trichorrhexis nodosa has been observed. 1 The nature of the hair defect has not been extensively studied, and tensile strength and other physical properties have been measured in only a single case, to our knowledge. 2 Amino acid analysis of acid hydrolysates of our patient's hair revealed a reduction in cystine content to 50% of the control level, concomitant with a similar degree of reduction of values for tensile strength and Young's modulus. No relationship between the urea cycle block, the

Hypokalemic, 1 hyperkalemic, 2 and normokalemic 3 types of familial periodic paralysis have been reported. We studied a woman whose clinical syndrome and serum potassium changes were compatible with the hyperkalemic type of paralysis. In contrast to most of the previously described patients, her family did not demonstrate the pedigree pattern of an autosomal dominant gene with complete or almost complete penetrance. 2 In addition, she had a low serum calcium and carbon dioxide combining power during an attack. Only one other report describes hypocalcemia during an attack. 4 Our patient may represent a heretofore unreported variant of familial periodic paralysis or, possibly a similar but new metabolic defect. Report of Case A 35-year-old, married, Caucasian female secretary complained of episodic weakness and paralysis of her legs and arms. These attacks began when she was 18 months old. A typical attack was characterized by gradual weakness of the arms and