Eugênio Grillo

Pyridoxine-dependent seizures responding to extremely low-dose pyridoxine

We report on a male infant with pyridoxine dependency and seizures from birth, controlled with pharmacological doses of pyridoxine at 4 months of age. Seizures stopped between 30 and 80 days of age when very‐low doses of pyridoxine were given in a multivitamin supplement. Daily dose was 0.5 mg that corresponded to 0.08 to 0.16 mg/kg/day when weight gain is considered. In previous reports doses have ranged from 0.2 to 30 mg/kg/day. Another distinctive feature was that this infant went into a coma and developed hypotonia and irregular breathing when pyridoxine was given by enteral tube which has usually been reported when the vitamin is given intravenously. Use of low doses of pyridoxine in multivitamin supplements could be a confounding factor for early diagnosis and appropriate treatment of pyridoxine‐dependent seizures.

Early manifestations of behavioral disorders in children and adolescents

OBJECTIVE To discuss the early diagnosis of behavioral disorders in childhood and adolescence and to provide the pediatrician with practical knowledge about the first symptoms of the main behavioral disorders at this age. SOURCES OF DATA PubMed (emphasis on the past decade). SUMMARY OF THE FINDINGS Pediatricians should be prepared to detect behavioral disorders as early as possible. Early detection could improve outcome and/or lead to etiologic diagnosis of mendelian inheritance disorders, allowing genetic counseling. Early symptoms of pervasive developmental disorders, attention deficit/hyperactivity disorder, separation anxiety disorder, generalized anxiety disorder, depression, schizophrenia, the main eating disorders (anorexia nervosa and bulimia nervosa) and substance use and abuse are discussed. CONCLUSIONS The early symptoms of the main behavioral disorders in children and adolescents may appear before the age in which these conditions are currently diagnosed. Detection of early symptoms leads to early intervention, proper orientation about prognosis and, in some cases, to genetic counseling. The comorbidity among these disorders is frequent, and the symptoms of one disorder could be the first clue to allow the diagnosis of other conditions.

A case report and review of hypokalemic paralysis secondary to renal tubular acidosis

A 5-year-old girl with distal renal tubular acidosis (RTA) and hypokalemic muscle paralysis is reported. RTA is a known cause of hypokalemia, but in spite of the presence of persistent hypokalemia muscular paralysis is uncommon, rarely described in children, and the onset of paralysis may initially be misinterpreted particularly if the patient is attended by a physician who is not a pediatric nephrologist. Therefore parents must be informed about this possibility. Still, as the clinical appearance of hypokalemic paralysis is quite similar to familial hypokalemic periodic paralysis, and because the emergent and prophylactic treatment of the two disorders are quite different, we discuss the diagnostic evaluation and the treatment for both of them.

Detection of organic acidemias in Brazil.

BACKGROUND Organic acidurias or organic acidemias are inherited metabolic disorders in which organic acids (carboxylic acids) accumulate in tissues and physiologic fluids of affected individuals. They are considered the most frequent metabolic disorders among severely ill children. Patients frequently present acute symptoms in early life. Metabolic acidosis and neurologic symptoms are the most common signs. METHODS Urine specimens obtained from 1,926 children from January 1994 to July 2001 were used in analyses. Venous blood specimens were also collected from some patients. Samples were initially submitted to screening tests for detection of inborn errors of metabolism. Identification and semi-quantitation of organic acids in urine were performed by gas chromatography or gas chromatography coupled to mass spectrometry using capillary column (DB-5) and flame ionization detection. RESULTS Ninety three (4.8%) cases of organic acidemias were diagnosed among 1,926 patients investigated from January 1994 to July 2001. Prompt therapy was instituted after diagnosis in a considerable number of patients and resulted in rapid improvement in their symptomatology, distinct from our previous cases diagnosed abroad where patients representing index cases died before any measure could be taken. CONCLUSIONS Results demonstrate the importance of diagnosing organic acidurias in loco in developing countries despite implied extra costs.

Acidúrias orgânicas: diagnóstico em pacientes de alto risco no Brasil

Objective: to determine the prevalence of organic acidurias in high-risk Brazilian patients. Methods: laboratory techniques for the detection and quantification of organic acids by gas chromatography/mass spectrometry were implemented in Porto Alegre, Brazil. We investigated 1,480 patients suspected of organic aciduria between January 1994 and June 2000. Results: seventy three (4.9%) cases of organic acidemias (acidurias) were diagnosed among the tested individuals. In most of these patients, prompt therapy resulted in rapid symptom improvement; these results are completely different from our previous cases diagnosed in other laboratories in Europe and the United States, where several patients died before any measures could be taken. Conclusions: these results demonstrate the importance of diagnosing organic acidurias in loco even in developing countries, in spite of the extra costs involved.

Childhood chorea‐encephalopathy and unremarkable MRI: an association suggesting parvovirus B19 infection

DMT. There are specific multiple sclerosis clinics (including ‘Pediatric MS Centers of Excellence’) in the US (http://www.nationalmssociety.org) which are multidisciplinary teams including both adult and paediatric specialists, with links to an adult MS centre. Transitional services for young people with MS are less well established in parts of Canada (http://www.mssociety.ca; Banwell B, Camfield P, personal communication 2009) and Europe (specifically, the Netherlands and Sweden; Brouwer O, Wide K, personal communication 2009), where teenagers and adolescents tend to be transferred directly to an adult MS clinic or service. It is hoped that further discussions in the UK will lead to similar dedicated joint, transitional, and multidisciplinary clinics for young people with MS, thereby addressing their needs and also the concerns raised by the National Services Framework and the MS Society of Great Britain.

[Intra-cranial hemorrhage in infants due to vitamin K deficiency - report of 2 cases]

OBJECTIVE: Drive attention to the late form of the hemorrhagic disease of the newborn, secondary to vitamin K deficiency, as a cause of intracranial hemorrhage in young infants.METHODS: The authors describe and analyze two cases of late hemorrhagic disease of the newborn, secondary to vitamin K deficiency, producing intracranially hemorrhage during the second month of age. The most important publications on this subject are reviewed.RESULTS: Both infants had not received prophylaxis with vitamin K at birth. They were both being fed exclusively on breast milk. They developed intracranial hemorrhage, and the clotting defect was rapidly corrected with intramuscular vitamin K. At 3 and 4 years of age, one of them has showed normal psychomotor development, and the other has showed moderate developmental delay with microcephaly.CONCLUSION: Late hemorrhagic disease of the newborn must be considered in young infants, between 2 and 12 weeks of age, with intracranial hemorrhage, especially those fed exclusively on breast milk who did not receive vitamin K at birth. It may produce neurodevelopmental delay. The clotting defect is rapidly corrected with intramuscular vitamin K. This condition is preventable. The prophylaxis is recommended with 1 mg of intramuscular vitamin K to all newborns, at birth, even without risk factors.