Family study of a novel mutation of mucopolysaccharidosis type VI with a severe phenotype and good response to enzymatic replacement therapy: Case report.

RATIONALE: Mucopolysaccharidosis type VI (MPS VI) or Maroteaux-Lamy syndrome is produced by the deficiency of the enzyme arylsulfatase B, responsible for the hydrolysis of N-acetyl-D-galactosamine, chondroitin sulfate, and dermatan sulfate. PATIENT CONCERNS: A 3-year-old male with Moroccan origins is the index case. He had healthy consanguineous parents and 4 healthy brothers and sisters. The patient showed a wide spectrum of symptoms including skeletal dysplasia and short stature with elevated glycosaminoglycans (GAGs) in urine. DIAGNOSES, INTERVENTIONS, AND OUTCOMES: GAGs were quantified by spectrometry method with 1,9-dimethylen blue in 24-hour urine samples. The qualitative analysis of urine GAGs was obtained by thin-layer chromatography to determine the predominant presence of dermatan sulfate. The activities of both arylsulfatase B and beta-galactosidase as well as genetic studies were performed in dried blood spots. The genetic study was performed with deoxyribonucleic acid by massive sequencing a of lisosomal storage diseases. Results showed a new mutation c.263A > C with the severe phenotype in homozygous in the patient. The familiar study of ARSB and GLB1 genes presented some asymptomatic SNPs but with a discrete decrease in the activity of arylsulfatase B and beta-galactosidase. After an early detection by pediatricians, and both enzymatic and genetic confirmation, the patient had a good response to substitutive enzymatic treatment with galsulfase. LESSONS: Mucoplysaccharidosis type VI is an autosomal recessive rare disease characterized by a lysosomal storage disorder. Although a number of mutations have been already associated to the disease, we have found a new mutation located in the arylsulfatase B enzyme gene. We have described that this mutation is the ultimate cause of a severe presentation of the disease.

Gestante eutiroidea con anticuerpos estimulantes del receptor de tirotropina positivos: manifestación tardía de hipertiroidismo neonatal. A propósito de un caso / Euthyroid pregnant woman with positive thyrotropin receptor-stimulating antibodies: Late manifestation of neonatal hyperthyroidism. About a case

Las enfermedades tiroideas, después de la diabetes mellitus, se encuentran entre los trastornos endocrinos más comunes durante el embarazo, con una incidencia del 5-10%. Es importante su detección y tratamiento precoz ya que puede tener consecuencias negativas tanto para la madre como para el feto. El hipertiroidismo se encuentra en menor frecuencia que el hipotiroidismo durante el embarazo, entre 0,1-1%. Se caracteriza por presentar tirotropina baja con hormonas tiroideas elevadas, siendo la enfermedad de Graves la causa más frecuente (el 85% de los casos). A continuación se expone el caso de un lactante con hipertiroidismo primario de etiología autoinmune, hijo de una madre sin diagnóstico previo de hipertiroidismo durante la gestación (AU)

Thyroid diseases, after diabetes mellitus, are among the most common endocrine disorders during pregnancy, with an incidence of 5-10%. Early detection and treatment is important, as they can have negative consequences for both the mother and the foetus. Hyperthyroidism is less frequent than hypothyroidism during pregnancy, being between 0.1% and 1%. It is characterised by a low thyrotropin with elevated thyroid hormones, with Graves’ disease being the most frequent cause (85% of cases). The following is the case of an infant with primary hyperthyroidism of autoimmune origin, the son of a mother without previous diagnosis of hyperthyroidism during gestation (AU)