[Neonatal onset methylmalonic aciduria and homocystinuria:Biochemical and clinical improvement with betaine therapy]. / Aciduria metilmalónica con homocistinuria de inicio neonatal: mejoría bioquímica y clínica con betaína.

Methylmalonic aciduria and homocystinuria is a very rare inborn error of cellular cobalamin (Cbl) metabolism. We describe the biochemical evolution and clinical course of a boy with neonatal onset CblC mutant defect.Born after a normal pregnancy, the patient developed general hypotonia and severe feeding difficulties at 5 days of life. Diagnosis of methylmalonic aciduria and homocystinuria was established by amino-acid and organic acid analysis and was confirmed by enzyme and genetic studies. The patient was initially treated with parenteral hydroxocobalamin (1 mg/day), oral carnitine (100 mg/kg/day) and a restricted protein diet. This treatment returned methylmalonic acid levels to normal. Despite the parenteral hydroxocobalamin therapy, the patient showed no improvement in neurological dysfunction, hypotonia or developmental delay. Oral betaine supplementation (3 g/day) from months 3-15 reduced plasma total homocysteine and homocystinuria. The patient showed clinical improvement in neurological and growth development. We conclude that early betaine therapy was safe and effective in our patient with neonatal onset methylmalonic aciduria and homocystinuria type CblC.

Aciduria metilmalónica con homocistinuria de inicio neonatal: mejoría bioquímica y clínica con betaína / Neonatal onset methylmalonic aciduria and homocystinuria: biochemical and clinical improvement with betaine therapy

La aciduria metilmalónica con homocistinuria es un infrecuente error del metabolismo celular de la cobalamina (cbl). Se describe la evolución bioquímica y el curso clínico de un paciente con la mutación cblC de comienzo neonatal. Nacido tras una gestación normal, desarrolló una hipotonía general y graves dificultades de alimentación a los 5 días. El diagnóstico de aciduria metilmalónica con homocistinuria fue establecido basándose en los análisis de los aminoácidos y de los ácidos orgánicos, y confirmado mediante estudios enzimáticos y genéticos. El paciente fue tratado inicialmente con hidroxicobalamina parenteral (1 mg diario), carnitina oral (100 mg/kg/ día) y dieta hipoproteica. Este tratamiento normalizó los niveles de ácido metilmalónico. A pesar del tratamiento con hidroxicobalamina parenteral, la disfunción neurológica, la hipotonía y el retraso del desarrollo no experimentaron ninguna mejoría. La suplementación con betaína oral (3 g diarios) desde el 3.º al 15.º mes produjo una disminución de la homocisteína total y de la homocistinuria. El paciente presentó mejoría clínicamente de su desarrollo neurológico y somatométrico. Se concluye que el tratamiento precoz con betaína fue seguro y efectivo en nuestro paciente con aciduria metilmalónica con homocistinuria tipo cblC de inicio neonatal (AU)

Intoxicación oral accidental por mercurocromo / Accidental oral mercurochrome poisoning

La intoxicación por mercurio es un hecho muy infrecuente en el período neonatal, en particular la debida a ingestión de merbromina. Se describe el caso de un recién nacido de 10 días de vida al que se le administró mercurocromo por vía oral durante 7 días, debido a un mal entendimiento de las indicaciones médicas. Los síntomas iniciales incluyeron pérdida de apetito y escasa ganancia ponderal. Se encontraron valores de mercurio elevados en sangre. Se inició terapia quelante con dimercaprol y la evolución del paciente fue buena. Se comenta la toxicidad potencial provocada por el mercurio. Se desea poner énfasis en la importancia de la transmisión de la información por parte de los médicos, sobre todo a la población inmigrante (AU)

[Accidental oral mercurochrome poisoning]. / Intoxicación oral accidental por mercurocromo.

Neonatal mercury poisoning, especially that due to merbromin ingestion, is uncommon. We describe the case of a 10 day old newborn infant who was given mercurochrome orally for 7 days due to misunderstanding of medical instructions. Initial symptoms included loss of appetite and low weight increase. Elevated blood mercury concentrations were found. Chelating therapy with dimercaprol was initiated and the patient's evolution was good. We discuss the potential toxicity of mercury and emphasise the importance of the transmission of information by physicians, especially to the immigrant population.

[Apert syndrome: clinico-epidemiological analysis of a series of consecutive cases in Spain]. / Síndrome de Apert: análisis clínico-epidemiológico de una serie consecutiva de casos en España.

OBJECTIVE: Apert syndrome is one of the five craniosynostosis syndromes caused by allelic mutations of the fibroblast growth-factor receptor 2 (FGFR2). It is characterized by symmetrical cutaneous and bony syndactyly of the hands and feet and a variety of pleiotrophic features of the skeleton, central nervous system, skin and internal organs. PATIENTS AND METHODS: We show the clinical and epidemiological characteristics of the 17 cases of Apert syndrome identified in a consecutive series of 26,956 malformed liveborn infants detected among 1,502,639 livebirths surveyed by the Spanish Collaborative Study of Congenital Malformations (CEMC) between April 1976 and March 1998. RESULTS AND CONCLUSIONS: The estimated frequency of Apert syndrome in Spain is 0.11 per 10,000 liveborn infants. All of the cases were sporadic and were associated with an increased paternal age. The clinical manifestations of our cases are concordant with the variable expression of the syndrome, with the cardinal features of acrocephaly secondary to craniosynostosis and syndactyly of hands and feet present in all cases, and other anomalies, including cardiovascular (23.5%), cleft palate (23.5%), urinary (5.9%) and central nervous system (5.9%), in some of the patients.

[Jarcho-Levin and Casamassima syndromes: differential diagnosis and frequency in Spain]. / Síndromes de Jarcho-Levin y Casamassima: diagnóstico diferencial y frecuencia en España.

OBJECTIVE: Jarcho-Levin syndrome is characterized by the presence of only costal-vertebral defects. However, this diagnosis has been used in any case presenting with costovertebral defects, whether associated to other congenital defects or not. Recently, it has been demonstrated that costovertebral defects constitute a developmental field defect and, because of this, they can be observed in different clinical and etiological patterns. On the other hand, Casamassima syndrome is characterized by the presence of costovertebral defects, genito-urinary anomalies and anal atresia, which make it easily distinguishable from Jarcho-Levin syndrome. PATIENTS AND METHODS: We present the cases with Jarcho-Levin and Casamassima syndromes identified among 1,405,374 liveborn (LB) infants registered by the Spanish Collaborative Study of Congenital Malformations (ECEMC). RESULTS: Frequencies of these two syndromes in the ECEMC are 0.2 per 100,000 LB for Jarcho-Levin syndrome and 0.3 per 100,000 LB for Casamassima syndrome. We present the clinical manifestations and other characteristics of all the cases registered with these syndromes in the ECEMC. CONCLUSIONS: Jarcho-Levin syndrome is defined by the presence of costoveriebral defects without any other congenital defect. However, given that the alterations of the axial skeleton are a developmental field defect, they can be observed in different clinical-etiological patterns that should not be considered as Jarcho-Levin syndrome. Among these, Cassamassima syndrome can be clearly distinguished, being autosomal recessive as is Jarcho-Levin syndrome.

[The Adams-Oliver syndrome in Spain: the epidemiological aspects]. / Síndrome de Adams-Oliver en nuestro medio: aspectos epidemiológicos.

Adams and Oliver (1945) described a family with several affected individuals with terminal transverse limb reduction defects and aplasia cutis congenita of the scalp. The clinical expression was highly variable and the pattern showed a family transmission compatible with an autosomal dominant condition. Since the first description, many cases have been published with this pattern of anomalies being known as Adams-Oliver syndrome. Here we present five affected patients ascertained among the 21,835 malformed infants registered by the Spanish Collaborative Study of Congenital Malformations (ECEMC). Epidemiological aspects and clinical features of the patients are presented and compared with data from the literature.