Management of labor and delivery in a woman with Morquio syndrome

Delgado, Carlos; Kent, Christopher; Sedensky, Margaret M.; Ciliberto, C F; Landau, Ruth

doi:10.1016/j.ijoa.2015.08.015

Cited by 5 publications

(11 citation statements)

References 11 publications

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“…También la presencia de compresión del saco tecal y una cifoescoliosis que hace que la analgesia neuro axial sea insuficiente. En necesario aclarar que es desconocido en este artículo si la paciente venia en manejo con terapia de reemplazo enzimático (16). Otro aspecto que en muchos casos no se tiene en cuenta es la evaluación odontológica de los pacientes con esta patología, específicamente en el reporte de caso de Rekka que evidencia la evaluación a este nivel de tres hermanas con mucopolisacaridos tipo IV, donde realizan igualmente un examen odontológico adecuado determinando las complicaciones que presenta a nivel oral y evalúan la importancia del asesoramiento genético en estos casos y la evaluación integral como también la importancia de estos hallazgos tanto para el diagnóstico como para el seguimiento (17).…”

Section: Resultsunclassified

Calidad en la descripción de casos en una población con síndrome de Morquio: Una revisión de la literatura

Delgadillo¹,

Tatiana²

2019

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Section: Resultsunclassified

Calidad en la descripción de casos en una población con síndrome de Morquio: Una revisión de la literatura

Delgadillo¹,

Tatiana²

2019

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“…This could partly explain why our cases did not report many respiratory complications. Although no problems with local anesthesia were reported, a recently published MPS IVA case suggested that a combination of kyphoscoliosis, lumbar canal stenosis and cord compression can lead to sub-optimal distribution of epidural anesthetics [8].…”

Section: Discussionmentioning

confidence: 99%

“…Not surprisingly, MPS adults are considering starting families or are actively pursuing having children. While case reports describing fertility and pregnancy in women with MPS are rare [2], [3], [4], [5], [6], [7], [8], [9], [10], even less data exists on fathers with MPS. A few case reports have shown that pregnancy and delivery can be problematic in women with MPS [2], [3], [4], [5], [8].…”

Section: Introductionmentioning

confidence: 99%

“…While case reports describing fertility and pregnancy in women with MPS are rare [2], [3], [4], [5], [6], [7], [8], [9], [10], even less data exists on fathers with MPS. A few case reports have shown that pregnancy and delivery can be problematic in women with MPS [2], [3], [4], [5], [8]. Small stature, obstructive and restrictive respiratory disease, cardiac issues (mostly valve disease), spinal cord compression, hepatosplenomegaly, and musculoskeletal abnormalities might interfere with normal pregnancy and delivery or exacerbate due to pregnancy [11], [12], [13], [14], [15], [16], [17], [18].…”

Section: Introductionmentioning

confidence: 99%

“…One of the women developed polyhydramnios and dyspnea in the 21st week of gestation and delivered a premature baby of 1.18 kg at 28 weeks [2]. The other case report concerned inadequate pain management during epidural anesthesia for cesarean section, probably due to a combination of kyphoscoliosis, lumbar canal stenosis, and thecal sac compression [8]. Only one published case report discussed pregnancy and delivery in a woman with MPS VI [5].…”

Section: Introductionmentioning

confidence: 99%

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Pregnancy in patients with mucopolysaccharidosis: a case series

Stewart

Bentley

Burton

et al. 2016

Molecular Genetics and Metabolism Reports

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The mucopolysaccharidoses (MPS disorders) are rare inherited diseases associated with multi-organ accumulation of glycosaminoglycans, leading to musculoskeletal, respiratory, cardiac, neurological, ophthalmological, otolaryngological, and gastrointestinal abnormalities. As a result of improvements in diagnosis, multi-disciplinary care, and therapies such as enzyme replacement therapy and hematopoietic stem cell transplantation, an increasing number of patients with MPS are reaching adulthood and are involved in family planning. Data on fertility and pregnancy outcome in MPS is sparse and comprises primarily isolated case reports. To address this evidence gap, we present a case series on fertility and pregnancy in eight mothers and five fathers with MPS. This case series demonstrates that women with MPS have high-risk pregnancies and deliveries secondary to their underlying disease. However, with appropriate pre-conceptual multi-disciplinary evaluation, optimization and discussion regarding potential risks, combined with regular multi-disciplinary maternal and fetal surveillance in a tertiary center, the outcome of most pregnancies in this case series seems to be favorable with all babies developing normally. Partners of fathers with MPS had uncomplicated pregnancies and deliveries. All children were healthy, with normal growth and development.

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Natural history of the oldest known females with mucopolysaccharidosis type IVA (Morquio A syndrome)

Peretz

Flora

Adams

2020

American J of Med Genetics Pt A

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Mucopolysaccharidosis Type IVA (MPS IVA), also known as Morquio A syndrome, is an autosomal recessive lysosomal storage disorder that results from variants in the GALNS gene that encodes the enzyme galactosamine-6-sulfate sulfatase. This syndrome has systemic manifestations including, but not limited to, musculoskeletal, respiratory, cardiovascular, rheumatologic, neurologic, dental, ophthalmologic, and otologic. This condition is usually detected within the first few years of life with an average life expectancy of 25.3 ± 17.43 years. We report the natural history of two of the oldest known females with MPS IVA who were each clinically diagnosed at 4 years of age and who are now 74 and 70 years of age, respectively. They are both affected by pathogenic variants c.319G>A (p.Ala107Thr) and c.824 T>C (p.Leu275Pro) in the GALNS gene.

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Management of labor and delivery in a woman with Morquio syndrome

Cited by 5 publications

References 11 publications

Calidad en la descripción de casos en una población con síndrome de Morquio: Una revisión de la literatura

Calidad en la descripción de casos en una población con síndrome de Morquio: Una revisión de la literatura

Pregnancy in patients with mucopolysaccharidosis: a case series

Natural history of the oldest known females with mucopolysaccharidosis type IVA (Morquio A syndrome)

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