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Reports on pregnancy in phenylketonuric women are rare, but fetal brain damage has been well documented and attributed to the mother's biochemical disturbance. Reports on fetal health after the treatment of phenylketonuria (PKU) in pregnancy are even rarer. Since the treatment of PKU girls is often stopped or relaxed at various prepubertal ages, pregnancy may occur soon in apparently normal girls who have high phenylalanine levels and PKU. In view of the scarcity of information, implications are cautiously suggested from the experience gained of one case. More information is needed urgently, not about the effects of PKU alone, but also of hyperphenylalaninaemia. The present case suggests that it is possible for a fetus to escape malformation, brain damage, and growth failure if maternal dietary treatment is good from about the 20th week of gestation. It would be unwise, however, to accept this finding as holding true for all cases.

New knowledge of normal gut function and the pathologic processes that may afflict the child’s alimentary tract has improved our ability to diagnose and manage certain specific diseases that cause diarrhea. In a substantial number of children no specific disease can be found. The various causes are discussed and the mechanisms and management of idiopathic chronic diarrhea are explored.

SYNOPSIS A newly devised carbohydrate-free feeding fromula (CF1, Nestle) was used in 48 Aboriginalinfants and children with malnutrition and diarrhoeal illnesses. It was effective in rapidly reducing diarrhoea in most patients, and in some requiring intravenous feeding it was a useful additional source of calories. Such a formula should prove useful in malnourished children with diarrhoea, and a simple, standardized regime is put forward for trial in ares where medical and nursing supervision are in short supply.

Thirty cases of episodic vertigo of labyrinthine origin with the common denominator of a history of hypersensitivity to fungal derivatives are grouped for study. Verification of the history of specific intolerances to fungal ingestants was accomplished by performing provocative intracutaneous or challenge feeding tests for hypersensitivity to yeast. A positive test response was obtained in each instance. Sixteen of the 30 patients gave a history of hypersensitivity to penicillin and 21 reported an intolerance to ingested, fermented alcohol. An antigenic cross-reactivity between penicillin, yeast and other fungi is suggested. Ten of the 30 cases qualified as classic Meniere's disease and 14 as vestibular Meniere's disease without auditory involvement. Six fell into the category of benign, positional vertigo. Therapy entailed correction of proven metabolic and endocrine dysfunctions, when present and complete elimination from the diet of all proven allergenic offenders. Hyposensitization therapy for inhalant allergens supplemented the program when indicated. Therapeutic results are classified according to the criteria set forth by the Subcommittee on Equilibrium and Its Management of the American Academy of Ophthalmology and Otolaryngology. Two of the 10 cases of classic Meniere's disease fell into the Class A category with absence of definitive spells of vertigo for the prescribed “10 times the average interval of spells before treatment” plus an improvement in hearing. Three cases fell into the Class B group, experiencing no definitive spells of vertigo but failing to show auditory improvement. Definitive spells persisted in the remaining 5 cases. Allergic management of the vestibular Meniere's group of 14 cases allowed for the classification of 7 as meeting the prescribed requirement of 10 times the average pretreatment interval between definitive attacks. Seven cases of vestibular Meniere's disease failed to obtain relief from definitive spells. Only 1 of 6 cases of benign positional vertigo experienced relief with allergic management. The high failure rate suggests other etiologic factors in this group. It is conceivable that the initial hypersensitization of the patient to penicillin in some instances may be responsible for the eventual antigenic excitation of a perverse labyrinthine response by commonly ingested fungi. Antigenic stimuli may excite episodic vertigo of labyrinthine origin. An acute episode of vertigo may be precipitated by the intracutaneous injection of a predetermined dilution and volume of a specific food antigen or by its ingestion, if the patient is hypersensitive to that food and the labyrinth is in a state of readiness to react.

Severely malnourished children in the relief camp in Dessie, Ethiopia, were treated by a "therapeutic feeding" programme. A high-energy milk-based diet (DSCO) was administered by a simple standardised system. Rapid rates of recovery were achieved, at a low cost, with a mortality rate no worse than under hospital conditions. Thus a therapeutic feeding system is an effective method of treatment of severe malnutrition even under the conditions of a relief situation.

Epileptic seizures in children occur in a variety of forms. While it may be difficult to classify some attacks, most seizures may be broadly divided into five groups: major motor (grand mal), petit mal, psychomotor (temporal lobe), myoclonic and autonomic. This writing is devoted to a discussion of the clinical manifestations, EEC findings, etiology, prognosis and treatment of myoclonic epilepsy of childhood. The data presented are based on approximately 1,500 children with myoclonic seizures who have been studied at The Johns Hopkins Hospital Epilepsy Clinic. In 1,150 patients, myoclonic seizures appeared during the first two years of life, most commonly between 3 and 9 months of age; and in the remaining 350 children, after the first two years of life, usually between 3 and 7 years of age. We classify myoclonic epilepsy into two types on this basis of age at onset. 1. Myoclonic epilepsy of infancy. In previous writings, we referred to this form of epilepsy as "minor motor epilepsy." Other terms currently in usage are "infantile spasms," "hypsarrhythmia" and "massive myoclonic seizures." 2. Myoclonic epilepsy of older children. This form of epilepsy is designated by many physicians as "petit mal variant," "head-dropping spells," "headbobbing spells," "akinetic seizures," "Lennox syndrome" and "Lennox-Gastaut syndrome." CLINICAL MANIFESTATIONS The predominant clinical feature of myoclonic epilepsy is a sudden flexor spasm of the body musculature, although extensor spasms are sometimes observed. The clinical manifestations vary, depending upon the posture of the patient. Recumbent Although this spell in the recumbent patient varies somewhat in clinical manifestations, it most commonly consists of a sudden flexion of the head with a simultaneous outward thrust of the upper extremities and flexion of the thighs on the abdomen. It is sometimes preceded by a short cry, laugh or giggle.

Seven cases of sucrase-isomaltase deficiency were diagnosed in four families. Six of the seven patients had been incorrectly diagnosed for periods ranging from 11 months to 7 3/4 years. Only two mothers gave a history which implicated sucrose-containing foods. Chronic or intermittent watery diarrhea was the primary symptom in six of the seven patients. Diagnosis of sucrase-isomaltase deficiency was established by sucrose tolerance tests and was confirmed by disaccharidase determinations in small intestinal biopsies. Treatment with a low-sucrose diet reversed all symptoms within 24 hours.

Phenylketonuria is a rare inherited metabolic defect in which there is a deficiency of the liver enzyme phenylalanine hydroxylase. Unless this condition is diagnosed within the first few weeks of life, and treated with special diets which have a high carbohydrate content, but which are very low in phenylalanine, severe mental deficiency can result. 105 phenylketonuric (PKU) children, aged 10 months to 16 years, were examined to determine whether this special diet had any effect on the prevalence of caries in PKU children. It was concluded that caries experience in the PKU children examined was of the same order as that reported in normal children of comparable age.

Hambraeus, L., Hardell, L. I., Westphal, O., Lorentsson, Rosa, and Hjorth, Gunilla (Department of Nutrition, Institute of Medical Chemistry, and Department of Pediatrics, University Hospital, University of Uppsala, Sweden). Argininosuccinic aciduria. Report of three cases and the effect of high and reduced protein intake on the clinical state. Acta Paediatr Scand, 63: 525, 1974.—Three girls with argininosuccinic aciduria (ASA) and hyperammonemia are reported. Two of them are siblings. They showed the typical clinical findings of ASA, i.e. developmental retardation, cerebellar ataxia and short brittle hair as well as episodes of changed behaviour or unconsciousness. The dietary history revealed that they all spontaneously had chosen a low-protein diet, thus lowering the risks of hyperammonemia. The effect of different protein intake was studied by means of short time metabolic balance studies. High protein intake provoked clinical signs of encephalopathy, objectively registered EEG changes, most probably due to subsequent hyperammonemia. During 16–17 months follow-up on a reduced protein intake—the easiest way to minimize the risks of hyperammonemia—no acute attacks of ammonia intoxication were observed but unfortunately the patients did not gain sufficiently in length.

A number of metabolic disorders are now known to bring about a syndrome of recurrent ketoacidosis, vomiting, lethargy, stupor, and hypotonia, to present in the newborn period and to result in neurological impairment or death, if not properly controlled. The subject has been discussed by O'Brien and the number of disorders, primarily those involving a block in the metabolism of amino acids, continues to increase. See image in the PDF file The principles involved in diagnosis and management of these disorders are well exemplified in the present report. At the earliest suspicion that such a disorder exists, one should discontinue protein feeding, obtain blood and urine specimens for metabolic screening, and restore and temporarily maintain a normal metabolic milieu by the administration of water, glucose and balanced electrolytes. Should a specific metabolic block be ascertained, appropriate management, usually lifelong and dietary, may then be instituted with high expectations as to being able to control if not entirely prevent the usually unfavorable consequences. While the sporadic case may not be ascertained before some permanent damage is done, in situations in which the genetic predisposition has been defined the potential for normalcy is present. That this potential has been achieved in this patient is in greatest measure due to the cooperation and understanding of the parents, since the burden of management was primarily theirs.

An effective treatment program involves measures for correction of both the malnutrition and the psychological disturbance in patients with anorexia nervosa. A novel approach to re-feeding, using motivational incentives in a controlled hospital setting, has been useful in the restoration of weight. The difficulty in maintenance of desirable weight after leaving hospital might be related to continuing disturbances in family relationships and to perceptual distortions. Treatment to prevent recurrence of symptoms should involve efforts to improve family communications and relationships, and correcting the patient's faulty perceptions. Both the disturbance in recognition of satiety and overestimation of the width of her trunk are reflected in limitation in caloric intake and relentless pursuit of thinness. Attention to correcting these perceptual disturbances might allow the patient to realize an accurate and acceptable sense of self, and to tolerate fears involving physical and psychological aspects of sexual maturation.

A pilot study and a subsequent double-blind study have been performed on 7 previously untreated elderly phenylketonuria patients in order to evaluate the effect of phenylalanine-poor diet. The effect of the treatment was evaluated by the observation of 6 psychiatric symptoms according to a 5-grade scale. Good and/or rather good effect of the treatment was noticed in 3 of the patients, while 2 showed only a slight effect during the pilot study. In the subsequent double-blind study on 5 patients, no effect was seen of the treatment with phenylalanine-poor diet. The necessity of double-blind studies in investigations of this kind is discussed.

Definition and classification. Developments in diagnosis and treatment, including a preliminary report of the International Cooperative Study.

Despite the considerable advances that have taken place in our understanding of hyperlipoproteinemia and the recognition that the various primary forms are often genetically determined and may be detected in the asymptomatic child, much remains to be learned. For example, accurate data on the normal lipid and lipoprotein distributions in infancy and childhood and information on the factors that affect them are needed. The prevalence of familial and sporadic forms of type II and other types of hyperlipoproteinemia must be established for different populations and racial groups. The utility of umbilical cord blood analysis requires detailed evaluation on a larger scale before it can be recommended as a nationwide screening procedure. The influences of maternal status, prematurity and intrauterine factors on cord blood lipids must be clarified. These and other problems will be among the special concerns of the network of Lipid Research Clinics which are now being set up throughout the United States by the National Heart and Lung Institute. The main significance of the pediatric aspects of hyperlipoproteinemia lies not so much in the identification of those uncommon but important cases with concomitant clinical features, but in the opportunities that early diagnosis in asymptomatic children may provide for averting later ischemic heart disease. In many respects, primary type II hyperlipoproteinemia is an ideal disorder in which to test the “lipid hypothesis,” namely, whether the reduction of plasma lipid levels is capable of preventing or delaying the atherosclerotic process. It is important that the pediatrician be alert to these possibilities for the early diagnosis and treatment of one of contemporary medicine's most pressing problems.

Phenylketonuria occurs in approximately one out of ev ery 100,000 American Negro births. This report of a Negro child with the disease care fully outlines her diagnosis, treatment, and physical and mental progress. Emphasized also is the need for even more widespread screening programs.

Data on 184 patients (of whom 15 were treated at Alder Hey Children's Hospital), who began treatment for phenylketonuria (PKU) in the first three months of life, are presented and reviewed. The intelligence and physique of these patients are slightly below average, but the majority do not show evidence of severe mental subnormality such as usually occurs in untreated PKU.

The traditional beliefs about measles among all of Mali's ethnic groups has been presented. Among many, treatment practices and dietary restrictions significantly add to the serious morbidity and high mortality associated with the disease.

One hundred and twenty-nine children with diabetes from fifty-eight junior and senior high schools in the Minneapolis- St. Paul area and their parents were given a thirty-four-item test to evaluate their knowledge of diabetes and to determine if there were significant differences in understanding. Areas of deficiency were noted particularly involving understanding of diet, acidosis and alterations in management that occur with changes in activity or illness. Descriptive material is presented indicating that there is high correlation of knowledge levels between diabetic children and their parents.

(1971). Phenylketonuria Testing - Its Role in Pediatrics and Public Health. CRC Critical Reviews in Clinical Laboratory Sciences: Vol. 2, No. 1, pp. 45-101.

The heterozygosity of an infant, in whom the diagnosis of phenylketonuria was originally made, was inferred on the basis of the responses of his parents to phenylalanine loading tests. Through fourteen months of age this child's biochemical findings still reflect defective liver phenylalanine hydroxylase activity. Our experiences with this child and a review of the relevant literature suggest that presently available biochemical tests and information are not sufficiently discriminating to justify a definitive diagnosis of homozygous phenylketonuria in an asymptomatic infant. The practical implications of this conclusion are briefly discussed.

The dietary regimen is a difficult one; it must be closely controlled by the physician if complications are to be avoided. Although effective in limiting pathology, if administered early and maintained, evidence is not yet presented as to whether it is fully protective. Estimates of the incidence and prevalence of phenylketonuria are not well established. There are indications that, although rare, the incidence may be considerably higher than the 1 in 20,000 to 25,000 births previously estimated. Discrepancies in the estimates should be explored for possible explanation. These may relate to different population frequencies, definitions of mental retardation, and screening and testing procedures. The degree of variability in the manifestations (or expressivity) of phenylketonuria in mental retardation and other effects has not been adequately examined. Investigation of the factors relating to this variability may provide information regarding the mechanics of pathology and lead to improved screening and therapeutic measures.

Twenty cases of ketotic hypoglycaemia have been diagnosed in one medical unit in the past 8 years. Typically the children were `dysmature9 at birth, with a history suggesting hypoglycaemia in the first 36 hours of life, and they have remained small and thin. 4 are the smaller of non-identical twins. Most presented acutely with recurrent early morning convulsions after the age of 1 year. A dietary ketogenic provocation test, which is the standard diagnostic procedure, induced hypoglycaemia in the 19 cases in which it was done, but the children frequently remained asymptomatic. This contrasts with the original description of the test. Treatment with carbohydrate supplements at bedtime has been successful in controlling symptoms in 16 of the 19 children followed up. Of the failures, 1 is attributable to parental non-co-operation, while in 2 others the original diagnosis was possibly erroneous.

Extract: A male infant with hyperglycinemia presented with neonatal seizures and lethargy, but had neither ketosis nor hematologic abnormalities. Treatment with a low protein diet and glycine-binding agents was instituted at the age of 2 ½ months. Although greater alertness and reduced irritability were noted immediately, the treatment failed to prevent severe developmental retardation and persistent seizures. Speculation: The structural and metabolic basis for the severe neurological damage seen in this rare hereditary metabolic defect is unclear. It seems imperative, however, that prompt diagnosis and therapy be instituted if one expects to offer a better prognosis. Attempts to maintain normoglycmemia by using a low-protein diet and glycine-binding agents may be useful if serum glycine levels are monitored carefully.

To ascertain the prevalence of phenylketonuria among the "normal" teen-age and adult population of Massachusetts, a total of 280,919 serum specimens submitted for routine syphilis testing ...

The results of this study indicate clearly that iron fortification of an infant formula, offered to premature infants from the newborn period, affords effective prophylaxis against iron deficiency. Acquisition of hemoglobin iron keeps pace with the rapid growth of these infants. Hematologic observations from the tenth week of life are indistinguishable from those of healthy term infants receiving optimal nutritional care. On the other hand, the majority of premature infants who derive iron solely from iron-fortified and iron-containing solid foods, even when these foods are fed from an early age, develop true iron deficiency anemia. This nutritional anemia can be corrected effectively by the addition to the diet of a formula containing 12 mg. of elemental iron per quart.

"This paper presents the incidence of growth failure in 44 patients for which no organic cause was discovered after investi gation. This group of patients, collectively termed failure-to-thrive, represents the sec ond largest diagnostic category of patients with growth failure admitted to a children's hospital in one year. An examination of various features of this group from a review of the medical and psychosocial histories is made and changes in growth patterns in hos pitalization and follow up are documented."

In a follow-up study of 65 obese adolescents, 19 had achieved a non obese status while 46 remained obese. Twelve adolescents maintained the weight loss initiated during clinic attendance. Obese adolescents given dietary instruction and placed on a diet were more successful at losing and maintaining their lower weight than those treated with a nondietary approach. Although nine adolescents lost weight who had not received a diet, only two maintained this weight loss and none achieved a nonobese status. Group treatment did not ap pear to produce better long-term results than individual treatment.

To determine the clinical and laboratory effects of medicinal iron supplementation,602 healthy full-term infants were studied. Three hundred twenty-nine infants were given 30 mg. of elemental iron per day, and 273 were given a placebo. Fifty-five per cent of the original group completed the supplement program (11 months), and 46.5 per cent completed the total 18 months of the study period. Forty-one per cent were followed for a total of two years; these infants were evaluated in detail. No objective benefit from the iron medication was found, but a transient decrease in the serum iron saturation was noted in the placebo group. Side effects were minimal. Subjectively the mothers of the iron-supplemented group had less complaints about their children's sleep pattern or daytime irritability, and reported fewer illnesses. However, the more objective evidence of illnesses recorded in the infants' charts did not support this difference. It is our belief that normal healthy infants who readily accept solid food will not be subject to iron deficiency anemia and do not benefit from iron supplementation.

THE HIGH fat diet, referred to in the neurological literature as the ketogenic diet, was first introduced by Wilder 1 for the treatment of epilepsy. Subsequently, Talbot, 2 Wilkins, 3 Bridge, 4 Livingston, 5 Keith, 6 and others amply confirmed the beneficial effect of this diet in controlling cerebral seizures. In general, these authors conceded that children under 8 years of age who suffer predominantly from minor attacks show the best results. This was generally attributed to the fact that dietary ketosis is difficult to accomplish in older children and in adults. Based on several large series of patients, 4-6 the following empirical generalization is frequently quoted: About 30% of properly selected children with epilepsy will have their seizures controlled while on the diet; an additional 30% will show partial improvement in the frequency of seizures; and in 40% the attacks will remain uninfluenced. Strict adherence to the high