Typical presentation of mucopolysaccharidosis type IVA: a case report

Mucopolysaccharidosis (MPS) IVA, or Morquio syndrome, is a rare lysosomal storage disorder characterized by skeletal dysplasia. It is caused due to deficiency in the enzyme N-acetylgalactosamine-6-sulfatase (GALNS), which results from an autosomal recessive mutation in the GALNS gene. The frequency of this mutation is equivalent in men and women. Here in, we present the case of Morquio syndrome, in a male child of twin gestation with poor antenatal and natal history. The peculiar presentations are those of skeletal deformities, coarse facial features, recurrent respiratory tract infections, and a history of NICU admission for meconium aspiration syndrome. This case is unique because, despite a negative family and prenatal history, and one of the twins being unaffected which adds to its appeal. Later, on biochemical and radiological investigations, he was diagnosed with mucopolysaccharidoses IVA and ultimately managed him supportively.

Síndrome de Morquio, enfermedad de interés para la odontopediatría: presentación de un caso / Morquio syndrome, a disease of interest for pediatric dentistry: case report

El Síndrome de Morquio es un trastorno de almacenamiento de mucopolisacáridos se caracteriza principalmente por estatura corta y afectación ósea grave, pero el coeficiente intelectual es normal. La prevalencia es rara se estima que afecta a uno de cada 200.000 nacimientos hombres y mujeres por igual. La MPS IV A y B son enfermedades autosómicas recesivas con esto queremos decir que ambos progenitores son portadores del mismo gen afectado el cual se encuentra alterado produciendo así una deficiencia en la producción de la enzima. Las manifestaciones esqueléticas en esta displasia son retardo en el crecimiento, hipoplasia del odontoides, cifosis toracolumbar, displasia de cadera, genu valgo, manchas cutáneas y laxitud articular, en cuando a cuestiones dentales tenemos: el esmalte es delgado, rugoso e hipoplásico afectando dientes deciduos como permanentes. Se presenta el caso de un paciente masculino de 8 años 3/12 presentando MPS el cual requiere un protocolo de rehabilitación lo cual se realiza en el área de odontopedriatría del Hospital del Niño DIF.

Morquio syndrome is a mucopolysaccharide storage disorder is mainly characterized by short stature, severe bone involvement, but IQ is normal. The prevalence is rare is estimated to affect one in every 200,000 births men and women alike. The MPS IV A and B are autosomal recessive diseases with this we mean that both parents are carriers of the same gene affected which is altered thus producing a deficiency in the production of the enzyme. The skeletal manifestations in this dysplasia are growth retardation, hypoplasia of the odontoid, thoracolumbar kyphosis, hip dysplasia, genu valgus, skin blemishes and joint laxity, then dental issues are: the enamel is thin rugged and hypoplastic affecting deciduous theeth as permanent. The case of a male patient presenting eight years 3/12 MPS which requires a rehabilitation protocol which is done in the dental area of Hospital del Niño DIF is presented.

Síndrome de Morquio como causa infrecuente de talla baja desproporcionada: Enfoque fisiopatológico, diagnóstico y terapéutico. A propósito de un caso / Morquio Syndrome as a rare cause of disproportionate short stature: Pathophysiological, diagnostic and therapeutic approach. About a case

Objetivo: Describir caso clínico de Síndrome de Morquio como causa infrecuente de talla baja desproporcionada. Caso clínico: Escolar femenina de 11 años quien inicia enfermedad actual a los 4 años de edad con retardo del crecimiento, talla baja, deformidad de la caja torácica y de extremidades. Refiere hospitalizaciones en tres ocasiones por infecciones respiratorias, además de obstrucción nasal persistente, faringoamigdalitis a repetición, ronquidos nocturnos e hipoacusia en oído derecho. Examen físico: Peso: 19,8 kg (P<3), Talla: 97cm (P<3), IMC: 21,5 (P 90), relación segmento proximal/segmento distal: 0,87, velocidad de crecimiento de 0 cm/año. Normocéfala, ojos con hipertelorismo y epicanto bilateral, puente nasal ancho, pecho en quilla, escoliosis, rosario costal. Extremidades: engrosamiento epifisario, 5° metacarpiano corto bilateral. Deformidad en cáliz en manos y pies, genus valgus y pie plano bilateral. Paraclínicos: Fosfatasa alcalina: 768 mg/dL, calcio: 10 mg/dL, fósforo: 4,1 mg/dL, TSH: 2,2 mU/ mL, T4L:1,1 ng/dL, PTH: 31,8 ng/dL, resto sin alteraciones. Edad ósea de 10 años. Valoración genética: Síndrome de Morquio. Conclusión: El Síndrome de Morquio es una causa infrecuente de talla baja disarmónica, y supone un reto en el diagnóstico y el tratamiento. El uso de terapia con hormona de crecimiento no está recomendado sistemáticamente debido a los escasos estudios sobre seguridad y eficacia, en parte debido a la baja prevalencia de esta patología, por lo que es una meta a futuro para la mejoría de la talla baja en estos pacientes.

Objective: To describe a case of Morquio syndrome as a rare cause of disproportionate short stature. Case report: Female 11 years old who initiates current disease at 4 years of age with growth retardation, short stature, deformity of the chest and extremities. Three times was hospitalized for respiratory infections She also has persistent nasal obstruction, recurrent tonsillitis, night snoring and hearing loss in the right ear. Physical examination: Weight: 19.8 kg (P <3) Height: 97cm (P <3), BMI: 21.5 (P 90), relation proximal/distal segment: 0.87, growth rate of 0 cm/year. Normocephalic, eyes with hypertelorism and bilateral epicanto, broad nasal bridge, keeled chest, scoliosis, and rosary costal. Limbs: epiphyseal thickening, 5th bilateral short metacarpal. Calyx deformity in hands and feet, genus valgus and bilateral flatfoot. Paraclinical: Alkaline phosphatase: 768 mg/ dL, calcium: 10 mg/dL, phosphorus 4.1 mg/dL, TSH 2.2 mU/mL, FT4 1.1 ng/dL, PTH: 31.8 ng/dL, remaining unchanged. Bone age of 10 years. Genetic evaluation: Morquio Syndrome. Conclusion: Morquio syndrome is an uncommon cause of disharmonic short stature, and it is a challenge in the diagnosis and treatment. The growth hormone therapy is not recommended routinely because of the few studies on safety and efficacy, partly due to the low prevalence of this disease, so it is a future goal for the improvement of short stature in these patients.

Albuminuria en paciente con Enfermedad de Morquio Tipo A. Reporte de un caso / Albuminuria in patient with MorquioÆs disease Type A. A case report

La Enfermedad de Morquio (MPS IV-A) es producida por dos defectos enzimáticos diferentes. Desde que la terapia de sustitución enzimática (TSE) se encuentra disponible para algunas EDL y en desarrollo para otras, este grupo de patologías han despertado un gran interés en la comunidad científica debido a que la misma parecería una alternativa terapéutica prometedora para cambiar el curso evolutivo de los pacientes afectados. Se presenta un caso con presencia de albuminuria

Morquio's disease (MPS IV-A) is produced by two different enzymatic defects. Since enzymatic replacement therapy (ERT) is available for some LDD and others under development, this group of diseases have created great interest within the scientific community due to the fact that promising therapeutic alternative will be available to change disese course of affected patient. We present a case with albuminuria.

Morquio’s Syndrome: A Rare Case.

Morquio’s syndrome is an autosomal recessive disorder due to deficiency of N-acetylgalactosamine-6 sulfate. Presented here is the case of a 4-year-old girl with complaints of deformity of bilateral lower limbs since 6 months. Examination revealed widely spaced teeth, corneal opacity, pectus carinatum, bilateral genu valgum and flat feet. X-rays of femur showed minimal metaphyseal widening, widened carpal bones and pointing metacarpals and beaking of the thoracic and lumbar vertebrae. She was diagnosed to be suffering from Morquio’s syndrome. Mucopolysaccharidoses (MPS) are a rare group of metabolic disorders due to deficiency of enzymes responsible for degradation of glycosaminoglycans. Treatment is mainly symptomatic.

Presentación de un caso clínico de mucopolisacaridosis Tipo IV, síndrome de Morquio / Presentation of a clinical case of mucopolysaccharidosis type IV, Morquio syndrome

Se presenta el caso de un paciente de 16 años de edad, con el diagnostico de mucopolisacaridosis (MPS) tipo IV-A, con una breve revisión teórica del curso y progresión crónica de esta enfermedad multi-sistémica, que se manifiesta con amplia signo sintomatología, hallazgos de laboratorio y anomalías radiológicas. El objetivo es documentar el caso y difundir a la comunidad médica boliviana, la importancia de los errores innatos del metabolismo, consideradas enfermedades "raras", que a criterio nuestro, sufren un sub-diagnóstico debido a las pocas publicaciones científicas sobre el tema en el medio.

We report the case of a patient 16 years old with a diagnosis of mucopolysaccharidosis (MPS) type IV- A, with a brief theoretical review of chronic course and progression of this multisystem disease, which manifests with extensive signs symptoms, findings are presented, with laboratory and radiological reported abnormalities. The aim is to document the event and communicated to Bolivian medical community, the importance of inborn errors of metabolism, considered "rare" diseases, which in our opinion; suffer a sub- diagnosis because of the few Bolivian scientific publications on the topic.

Morquio Syndrome in Two Siblings: A Case Report.

Morquio syndrome is a rare inherited autosomal recessive disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues. It is rare cause of dwarfism. Many pediatricians therefore are unlikely to see this case hence may miss the diagnosis due to lack of experience. With this view we report two siblings with this dwarfism highlighting the classical clinical and radiological presentation.

Mucopolisacaridosis tipo IV como causa de talla baja patológica: reporte de un caso y revisión de la literatura / Mucopolysaccharidosis type IV as a cause of pathological short stature: a case report and literature review

Se presenta un caso clínico de síndrome de Morquio o mucopolisacaridosis tipo IV, en una niña de 5 años que consulta al servicio de endocrinología pediátrica del Hospital Pablo Tabón Uribe, por talla baja y deformidades esqueléticas que iniciaron al año de edad. Inicialmente admitida con una impresión diagnóstica de raquitismo, pero al evaluar el caso en conjunto con el grupo de ortopedia infantil se confirma el diagnóstico por clínica, hallazgos radiológicos característicos y pruebas específicas para mucopolisacaridosis. Se revisan los principales aspectos clínicos y radiológicos de la enfermedad y el manejo actual.

We report a case of Morquio syndrome, or mucopolysaccharidosis type IV, in a girl of 5 years attending the pediatric endocrinology service at the Pablo Tobón Uribe Hospital, because of short stature and skeletal deformities that began in the first year of life. Initially admitted with a working diagnosis of raquitism, but reassessment of the case by the children's orthopedic group confirmed the diagnosis by clinical, specific serological tests and characteristical radiological findings specific for mucopolysaccharidosis. We review the clinical and radiological characteristics of the disease and current treatment options.

Morquio's Syndrome: A Case Report / 대한정형외과학회잡지

Morquio's syndrome is a very rare disease, which is characterized by dwarfism, flattening of the vertebral body, marked spinal kyphosis, widespread affection of the epiphyses and normal intelligence. The authors experienced a case of Morquio's syndrome with typical clinical and radiological findings. The patient underwent bilateral supracondylar varus osteotomies for severe genu valgum deformities.