[Diet therapy in the treatment of neuropediatric disorders]. / Dietas médicas en el tratamiento de las enfermedades neuropediátricas.

OBJECTIVES: This review focuses on the dietary treatment of four neuropediatric disorders: 1) X-linked adrenoleukodystrophy (X-ALD); 2) attention deficit disorders (ADD); 3) refractory epilepsy; and 4) inborn errors of metabolism. DEVELOPMENT: The use of Lorenzo's oil in the treatment of X-ALD has been controversial since no clear efficacy has been demonstrated because of a lack of controlled studies. Although this treatment normalizes the levels of very-long chain fatty acids in children with the cerebral form of X-ALD, the neurological symptoms persist or progress. The dietary treatment of ADD with or without hyperactivity consists of elimination diets such as the Feingold diet and megavitamins. Although the results of several controlled studies are contradictory, there is no scientific evidence that sugar, artificial food colorings or sweeteners are responsible for behavior or learning problems in children. The ketogenic diet has been effective for the control of refractory epilepsy such as infantile spasms and myoclonic seizures. Important side effects include gastrointestinal complaints, metabolic complications, poor growth and nutrition, liver abnormalities and renal calculi. The early identification and treatment of inborn errors of metabolism require prompt diagnosis and correction of metabolic abnormalities. Restriction of protein and fats may be necessary in certain neurometabolic disorders. A variety of special formulas is available to meet the nutritional requirements and avoid offending substances in neurometabolic patients. CONCLUSIONS: Dietary treatment plays an important role in the management of certain neuropediatric disorders, such as the use of special formulas in inborn errors of metabolism and the ketogenic diet in refractory epilepsy. The efficacy of Lorenzo's oil in the cerebral form of X-ALD and of the elimination of artificial food colorings and sweeteners in ADD remain to be proved.

Dietas médicas en el tratamiento de las enfermedades neuropediátricas / Diet therapy in the treatment of neuropediatric disorders

Objetivos. Enfocamos en esta revisión el tratamiento dietético en cuatro trastornos neuropediátricos: 1) la adrenoleucodistrofia ligada al cromosoma X (X-ALD); 2) los trastornos por déficit de atención (TDA); 3) las epilepsias refractarias, y 4) los errores congénitos del metabolismo (ECM). Desarrollo. El uso del aceite de Lorenzo en el tratamiento de la X-ALD ha sido controvertido, ya que no se han emprendido estudios controlados. Aunque el tratamiento normaliza los niveles de los ácidos grasos de cadena muy larga en los niños con la forma cerebral de la X-ALD, las manifestaciones neurológicas no mejoran o progresan. La dietoterapia en los TDA, con o sin hiperactividad, consiste en la aplicación de dietas eliminatorias, como las dietas de Feingold y las megavitaminas. Los resultados de varios estudios controlados se contradicen; sin embargo, no hay evidencia científica de que los azúcares, colorantes y edulcorantes artificiales, como el aspartame y la sacarina causen problemas del comportamiento o del aprendizaje en los niños estudiados. La dieta cetogénica ha sido eficaz en el control de los espasmos infantiles y de las crisis mioclónicas, aunque también han proporcionado beneficios en las crisis parciales. Existen efectos adversos que incluyen los síntomas gastrointestinales, las complicaciones metabólicas, la falta de crecimiento, la malnutrición, la malfunción hepática y los cálculos renales. La identificación y el manejo temprano de los ECM requieren un diagnóstico precoz y la normalización de los desequilibrios metabólicos. También se aplica una gran variedad de fórmulas especiales para llenar los requisitos nutricionales y reducir o eliminar los factores dañinos en los pacientes con problemas neurometabólicos. Conclusiones. La dietoterapia desempeña un papel importante en el tratamiento de ciertos trastornos neuropediátricos, como sucede en los ECM y en las epilepsias refractarias. Los beneficios de las dietas especiales, como el aceite de Lorenzo en la X-ALD y la eliminación de colorantes y edulcorantes artificiales en los TDA, desdichadamente, no se han comprobado (AU)

Objectives. This review focuses on the dietary treatment of four neuropediatric disorders: 1) X-linked adrenoleukodystrophy (X-ALD); 2) attention-deficit disorders (ADD); 3) refractory epilepsy; and 4) inborn errors of metabolism. Development. The use of Lorenzo’s oil in the treatment of X-ALD has been controversial since no clear efficacy has been demonstrated because of a lack of controlled studies. Although this treatment normalizes the levels of very-long chain fatty acids in children with the cerebral form of X-ALD, the neurological symptoms persist or progress. The dietary treatment of ADD with or without hyperactivity consists of elimination diets such as the Feingold diet and megavitamins. Although the results of several controlled studies are contradictory, there is no scientific evidence that sugar, artificial food colorings or sweeteners are responsible for behavior or learning problems in children. The ketogenic diet has been effective for the control of refractory epilepsy such as infantile spasms and myoclonic seizures. Important side effects include gastrointestinal complaints, metabolic complications, poor growth and nutrition, liver abnormalities and renal calculi. The early identification and treatment of inborn errors of metabolism require prompt diagnosis and correction of metabolic abnormalities. Restriction of protein and fats may be necessary in certain neurometabolic disorders. A variety of special formulas is available to meet the nutritional requirements and avoid offending substances in neurometabolic patients. Conclusions. Dietary treatment plays an important role in the management of certain neuropediatric disorders, such as the use of special formulas in inborn errors of metabolism and the ketogenic diet in refractory epilepsy. The efficacy of Lorenzo’s oil in the cerebral form of X-ALD and of the elimination of artificial food colorings and sweeteners in ADD remain to be proved (AU)

The cost of running American city hospitals: the Gorgas 1910 survey.

BACKGROUND: COL William C. Gorgas was appointed Chief Sanitary Officer of the Isthmian Canal Commission during construction of the Panama Canal (1904-1914). In 1910, Gorgas sought to determine the administrative and operating costs of major metropolitan hospitals in the United States and compare these with similar costs in the Canal Zone hospitals. METHODS: Gorgas sent a questionnaire to hospitals in Atlanta, Baltimore, Boston, Chicago, Cleveland, New York, Philadelphia, Pittsburgh, San Francisco, and Washington, DC. The information requested included number of beds, daily census, details about resident and nursing staff, salaries, length of stay, and hospital cost per patient per day. RESULTS: The survey results provide information about metropolitan hospitals in the United States at the turn of the century. Hospital costs varied from $.22 to $2.76 per patient per day. CONCLUSION: Gorgas concluded that the costs of operating hospitals in the Canal Zone compared favorably with those in the United States.

X-linked adrenoleukodystrophy. The Saudi experience.

OBJECTIVE: To evaluate the clinical, biochemical, neuroradiological, and neurophysiological findings of patients with X-linked adrenoleukodystrophy. METHODS: Retrospective study evaluating the data of 10 X-linked adrenoleukodystrophy patients diagnosed at King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia. RESULTS: The common presenting symptoms were deterioration in school performance, vision and hearing, behavioral changes, and seizures. Eight patients survived 1-4 years and one patient 12 years after the initial presentation, while one patient expired. Six patients had the childhood form, 3 had the adolescent form and one had the adrenomyeloneuropathy form. Six are in an advanced stage of the disease and 3 have mild to moderate spasticity. All except 2 manifested moderate to severe dementia with variable degrees of visual loss. Decreased hearing and features of adrenal insufficiency were seen in 7 patients. Very long chain fatty acids were significantly increased in seven and mildly elevated in 2 patients, however the C26 to C22 ratio was increased in all. The characteristic high-signal intensity of parieto-occipital white matter on brain magnetic resonance imaging T2-weighted images was observed in all patients. Two patients had functional study of the brain, which showed hypometabolic activity in gray and white matter of the occipital lobes. Various neurophysiological abnormalities were detected. The response to different treatment modalities was not promising. CONCLUSION: The disease is more common than had been previously recognized due to phenotypic variability and a wide spectrum of presentations. This report describes various aspects of this disorder and emphasizes the importance of early identification and treatment of asymptomatic but biochemically affected individuals, since all current therapeutic approaches are disappointing if overt neurological abnormalities have been already developed.

Hyperpipecolic acidemia: clinical, biochemical, and radiologic observations.

Pipecolic acid is a biochemical marker frequently detected in group 1 peroxisomal disorders (peroxisomal biogenesis disorders). Its presence, in addition to the constellation of particular phenotypic manifestations and pathologic findings, has led to its recent classification under disorders of peroxisomal biogenesis as a separate disease entity (hyperpipecolic acidemia or hyperpipecolatemia). The clinical, biochemical, and radiologic findings observed in three patients diagnosed with hyperpipecolic acidemia are reported.

Ancon Hospital: an American Hospital during the construction of the Panama Canal, 1904-1914.

The control of yellow fever, malaria, and other tropical diseases was essential for the successful completion of the Panama Canal. COL William C. Gorgas, Chief Sanitary Officer, found Ancon Hospital quite satisfactory as a site from which to direct his sanitation efforts. Ancon Hospital played an important role during the period of the excavation of the canal (1904-1914). In 1928, Ancon Hospital was renamed Gorgas Hospital to commemorate this achievement. After more than a century of clinical and research activities in Panama, Ancon Hospital closed its doors in 1997.

Pseudotumor cerebri and leukoencephalopathy in childhood lupus.

We describe an adolescent with systemic lupus erythematosus (SLE) and pseudotumor cerebri (PTC) associated with diffuse white matter lesions (leukoencephalopathy) on neuroimaging studies. Although the association between SLE and PTC has been reported previously in 21 cases, the findings of leukoencephalopathy is known in only one other patient.

[Genetic encephalopathies in a newborn]. / Encefalopatías de origen genético en el recién nacido.

The clinical manifestations of neonatal encephalopathies lack specificity and may present with predominantly seizures, hypotonia or coma. We have selected several examples of neonatal encephalopathies which are of special interest because of their genetic origin and present their clinical features, typical course and, when available, treatment.

[Clinical features of the peroxisomal disorders]. / Manifestaciones clínicas de los trastornos peroxisomales.

The peroxisomal disorders belong to a group of inborn errors of metabolism due to malformation or malfunction of these subcellular organelles. Their clinical features vary with age. However, the commonest form presents in the syndrome of Zellweger with severe hypotonia, craniofacial dysmorphism, stippled calcifications, renal cortical cysts and liver dysfunction. By means of complementation very long tests 17 different genotypes have been identified and in 15 of these there were neurological changes. Diagnosis requires recognition of the clinical features, raised levels of very long chain fatty acids, and radiological and neuroimaging studies.

Progressive degenerative disorder of the central nervous system.

The child with a deteriorating course is a regular if not common clinical problem for the child neurologist. An apparent plateau in the course can often be confusing if the focus is limited to the current visit. With the explosion of information and understanding of molecular genetics, failure to recognize the presence of a degenerative disease may have significant consequences for the family of the patient and possibly the patient as well.

Failure to thrive, hepatic dysfunction, hypotonia, and cerebellar atrophy.

A 2-year-old with cerebrellar and gastrointestinal difficulties is presented. The differential diagnosis of this combination of clinical features is difficult but recently several of the conditions under consideration have been more precisely characterized from a molecular standpoint.

Paroxysmal torticollis.

An infant with recurrent episodes of torticollis lasting several hours at a time is presented. The diagnosis is primarily one of pattern recognition and exclusion of alternative diagnoses.

Detection of inherited neurometabolic disorders. A practical clinical approach.

The most common neurometabolic disorders to be considered are organic acidurias and amino acid apathies followed by urea cycle disorders, congenital lactic acidosis, peroxisomal disorders, and, less frequently, sphingolipidoses, mucopolysaccharidoses, glycoprotein degradation disorders, fatty acid oxidation disorders, and neuronal ceroid lipofuscinoses.

Hemorrhagic shock and encephalopathy. Clinical definition of a catastrophic syndrome in infants.

We treated nine infants who unexpectedly developed shock, seizures, and fever, followed by diarrhea, consumption coagulopathy, and hepatorenal dysfunction. Despite vigorous treatment, three infants died and all except one of the six survivors have severe residual neurologic abnormalities. Postmortem findings included cerebral edema, white matter petechial hemorrhages, gastrointestinal hemorrhages, and fatty liver. These clinicopathologic features are similar to those previously described in 10 infants as being due to hemorrhagic shock and encephalopathy, except for the presence of fatty liver in our patients. Based on the combined experience of 19 infants, we propose diagnostic criteria for hemorrhagic shock and encephalopathy that may facilitate recognition and differentiation from other shock syndromes in infancy.

Sjögren-Larsson syndrome: inherited defect in the fatty alcohol cycle.

We investigated fatty alcohol metabolism in eight patients with Sjögren-Larsson syndrome, and in nine obligate heterozygotes. Fatty alcohol: nicotinamide-adenine dinucleotide oxidoreductase (FAO) activity was deficient in cultured skin fibroblasts (mean 18% of normal, n = 8) and peripheral blood leukocytes (mean 22% of normal, n = 3) from patients with Sjögren-Larsson syndrome. The palmitoyl coenzyme A-inhibitable component of FAO activity was decreased to 10% and 15% of normal in fibroblasts and leukocytes, respectively, of patients with Sjögren-Larsson syndrome. Most affected patients accumulated long-chain fatty alcohol in plasma, with a greater relative accumulation of octadecanol (mean threefold greater than normal) than hexadecanol (mean twofold greater than normal). Erythrocyte lipid alkyl ether linkages derived from hexadecanol were slightly increased in three of four patients. Fibroblasts and leukocytes from heterozygotes with Sjögren-Larsson syndrome showed mean FAO activities that were intermediate between those seen in homozygotes and in normal control subjects. The heterozygotes had normal fatty alcohol concentrations in plasma. These studies demonstrate FAO deficiency in patients with Sjögren-Larsson syndrome, and suggest that accumulation of fatty alcohol or its metabolic products may be important in the pathogenesis of this disorder.

Neurologic aspects of the 9p- syndrome.

The 9p- syndrome is a chromosomal disorder which is easily recognized by its characteristic craniofacial features. Neurologic abnormalities are evident in all reported cases, the most common of which is severe mental retardation. We add another case with unusual features including glaucoma, seizures, and polydactyly, and review the somatic and neurologic features from 41 previously reported cases.