Síndrome de persistencia de los conductos mullerianos: una rara entidad que debe ser conocida / Persistent Müllerian Duct Symdrome: a rare anomaly that must be known

Introducción: El síndrome de persistencia de los conductos müllerianos es un raro trastorno de la diferenciación sexual con menos de 300 casos publicados, que se caracteriza por la presencia en la persona afectada de ambos sistemas reproductores masculino y femenino. Un varón con cariotipo XY fenotípicamente masculino en quien el conducto de Müller (útero, trompas, 2/3 superior de la vagi-na) no sufrió regresión. Caso clínico: Masculino de 14 meses de edad ingresado en el Hospital de Especialidades del Seguro Social para laparoscopía diagnostica por criptorquidia bilateral con testículos no palpables y pene normal. En la laparoscopía se identiicó trompas, útero y 2/3 superior de la vagina. Además, se tomó biopsia de ambas gónadas que conirmó presencia de tejido testicular normal para la edad. Con estos datos se programa para orquidopexia bilateral más histerectomía, colpectomía y salpingectomía bilateral. Es controlado en consulta externa de endocrinología y cirugía con evolución normal. Conclusiones: El síndrome de persistencia de los conductos mül-lerianos es muy raro debe sospecharse en masculinos con criptorquidia bilateral con testículos no palpables y pene normal. El abordaje inicial debe ser laparoscopía diagnóstica con toma de biopsia de ambas gónadas y luego en la segunda intervención ya con el reporte de patología proceder a la orquidopexia bilateral más la remoción de los elementos del conducto de Müller...(AU)

Severe Hunter syndrome (mucopolysaccharidosis II) phenotype secondary to large deletion in the X chromosome encompassing IDS, FMR1, and AFF2 (FMR2).

A 2-year-old boy with an initial diagnosis of Hunter syndrome (mucopolysaccharidosis II) had a more severe phenotype than expected, which warranted further evaluation. The patient had severe infantile global neurodevelopmental delays, macrocephaly with a prominent forehead, coarse facial features with clear corneas, chronic congestion with snoring, wide-spaced teeth, short thick neck, hepatomegaly, an inguinal hernia repaired, early clawhand deformities, and severe generalized hypotonia. X chromosome microarray revealed a large deletion encompassing the genes IDS, FMR1, and AFF2 (FMR2) confirming the diagnoses of both Hunter and fragile X syndromes. This case is also a reminder to clinicians that for optimum patient care, further diagnostic testing is warranted if there is concern that a patient's phenotype is more severe or complex than would be expected for the initial neurogenetic diagnosis.

Utilization of blood spot testing for metabolic-genetic disorders in Honduras: is it time for newborn screening?

Honduran infant mortality (20/1000) has fallen below the Latin American newborn screening target rate (<30/1000). The authors report 2 Honduran maple syrup urine disease cases and a newborn screening pilot study. The first infant, diagnosed by plasma/urine testing in the U.S., prompted this study. Although marked clinical/radiological improvement occurred after treatment, moderate neurodevelopmental delays persist at 5 years. This 1-month, prospective study used blood spot specimens from hospitalized term Honduran neonates shipped overnight to South Carolina for routine newborn screening with electronic result submission to Honduras for follow-up. Of 88 consecutive neonates (mean age: 4.2 days, standard deviation: 4.2 days) tested, 24 (0.6%) of 3837 completed tests were positive. Another infant with maple syrup urine disease, diagnosed after study completion by blood spot testing, later died. The study findings indicate that collaborative blood spot testing aids in the diagnosis of Honduran metabolic-genetic disease. Newborn screening is now needed to diagnose and treat these diseases before morbidity/mortality develops.

Diagnosis, treatment, and long-term outcomes of late-onset (type III) multiple acyl-CoA dehydrogenase deficiency.

We report 4 children with late-onset (type III) multiple acyl-CoA dehydrogenase deficiency, also known as glutaric aciduria type II, which is an autosomal recessive disorder of fatty acid and amino acid metabolism. The underlying deficiency is in the electron transfer flavoprotein or electron flavoprotein dehydrogenase. Clinical presentations include fatal acute neonatal metabolic encephalopathies with/without organ system anomalies (types I and II) and late-onset acute metabolic crises, myopathy, or neurodevelopmental delays (type III). Two patients were identified in childhood following a metabolic crisis and/or neurodevelopmental delay, and 2 were identified by newborn metabolic screening. Our cases will illustrate the difficulty in making a biochemical diagnosis of late-onset (type III) multiple acyl-CoA dehydrogenase deficiency from plasma acylcarnitines and urine organic acids in both symptomatic and asymptomatic children. However, they emphasize the need for timely diagnosis to urgently implement prophylactic treatment for life-threatening metabolic crises with low protein/fat diets supplemented with riboflavin and carnitine.

Persistent growth failure in Prader-Willi syndrome associated with short-chain acyl-CoA dehydrogenase gene variant.

The authors report the rare association of Prader-Willi syndrome and short-chain acyl-CoA dehydrogenase gene variant. Prader-Willi syndrome, associated with paternal chromosome 15q11-q13 silencing, is characterized by neonatal/infantile hypotonia, growth failure, and neurodevelopmental delays in the first 1 to 2 years of life, typically followed by hyperphagia and obesity. Short-chain acyl-CoA dehydrogenase gene variant, with 625 G-to-A and 511 C-to-T changes, impairs C4-C6 fatty acid metabolism and variably causes neonatal/infantile hypotonia with developmental delays. The authors' patient continues to exhibit the classic severe growth failure of early infancy Prader-Willi syndrome at 40 months. Extensive laboratory investigations indicate that the short-chain acyl-CoA dehydrogenase gene variant is likely preventing or delaying the normal expression of the Prader-Willi syndrome phenotype.

Early onset alpha-mannosidosis with slow progression in three Hispanic males.

Alpha-mannosidosis (AMS) is an autosomal recessive lysosomal storage disorder which results from a deficiency of lysosomal alpha-mannosidase [corrected] activity and displays a wide range of clinical phenotypes. Patients have traditionally been divided into type I, a more severe form that presents in infancy, and type II, a milder form that typically presents in later childhood. We describe three Hispanic males who presented in infancy with relatively mild forms of AMS. They were aged between 6 and 24 years at their last assessment. Homozygous mutations in the MAN2B1 gene were found in all three patients, one of which is a newly reported mutation. Two of the patients were brothers who were homozygous for the same MAN2B1 mutation. Despite being homozygous for the same mutation, the older brother had more severe developmental delay, hearing loss, and growth retardation. This report illustrates the difficulty in determining a strict genotype-phenotype correlation in AMS, and supports screening for oligosaccharides in children with neurodevelopmental delay with mild phenotypic signs and symptoms.

Eosinofilia asociada a helmintiasis en niños atentidos en el Hospital Escuela, Honduras / Eosinophilia associated to helminthiasis in children attended in the Hospital Escuela, Honduras

Con el propósito de determinar la frecuencia de las infecciones parasitarias asociadas a eosinofilia se estudiaron 51 niños atendidos en el Bloque materno Infantil del Hospital Escuela (HE) de abril a septiembre de 1998. Los niños se seleccionaron si presentaban eosinofilia superior a 10 por ciento o un valor absoluto mayor de 850 células/µL. El estudio de los pacientes incluyó historia clínica, examen directo, conteo de huevos y Baermann. La mediana de edad fue de ocho años (1 a 15 años), la mayoría (51 por ciento) procedente del área rural. Los niños mayores de cuatro años presentaron más de 80 por ciento de los casos de eosinofilia moderada y severa. En 45 por ciento (23 niños) se identificó por lo menos un geohelminto conocido por casos de eosinofilia moderada y severa. En 45 por ciento (23 niños) se identificó por lo menos un geohelminto conocido por causar eosinofilia y en el resto de identificó un problema neoplásico o alérgico (5.8 por ciento cada uno) o bien ninguna causa aparente (43.1 por ciento). Ascaris lumbricoides y Strongyloides stercoralis se identificaron con mayor frecuencia. Aunque no fue estadísticamente significativo, se observó una tendencia de mayor intensidad de eosinofilia a mayor severidad de la helmintiasis. Estos resultados indican que el conteo de huevos y el método de Baermann son herramientas útiles para estudiar al paciente eosinofílico en el HE