World journal of clinical pediatrics · 2026
Duchenne muscular dystrophy coexisting with Down syndrome or Turner syndrome: Two case reports.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Pongsakornkullachart Peerada, Chanvanichtrakool Mongkol, Dhachpramuk Dhachdanai, Pho-Iam Theeraphong, Yongwattana Nattha, Kulsirichawaroj Pimchanok, Tanboon Jantima, Sanmaneechai Oranee
Аннотация
BACKGROUND: Dystrophinopathies are X-linked recessive neuromuscular disorders caused by pathogenic variants in the dystrophin gene (DMD). Down syndrome (DS) and Turner syndrome (TS) are well-characterized chromosomal conditions; however, their co-occurrence with monogenic disorders such as Duchenne muscular dystrophy (DMD) is rare and presents unique diagnostic and management challenges.
CASE SUMMARY: We report two rare cases of DMD coexisting with chromosomal abnormalities, both followed at Siriraj Hospital. The first case involved a 6-year-old boy with DS who presented with incidentally detected elevated serum transaminase levels, calf pseudohypertrophy, and gait difficulty; gene panel testing identified a hemizygous c.3917dup (p.Asp1307Argfs*4) variant in DMD. The second case involved a 6-year-old girl with proximal muscle weakness and calf pseudohypertrophy; genetic studies revealed a heterozygous delins variant in the DMD (p.Ala3041Serfs*69), skewed X-chromosome inactivation, and mosaic TS [45,X(29%)/46,XX].
CONCLUSION: The coexisting of DMD with DS or TS produces overlapping phenotypes that can complicate diagnosis; careful genetic evaluation and multidisciplinary management are therefore essential.
CASE SUMMARY: We report two rare cases of DMD coexisting with chromosomal abnormalities, both followed at Siriraj Hospital. The first case involved a 6-year-old boy with DS who presented with incidentally detected elevated serum transaminase levels, calf pseudohypertrophy, and gait difficulty; gene panel testing identified a hemizygous c.3917dup (p.Asp1307Argfs*4) variant in DMD. The second case involved a 6-year-old girl with proximal muscle weakness and calf pseudohypertrophy; genetic studies revealed a heterozygous delins variant in the DMD (p.Ala3041Serfs*69), skewed X-chromosome inactivation, and mosaic TS [45,X(29%)/46,XX].
CONCLUSION: The coexisting of DMD with DS or TS produces overlapping phenotypes that can complicate diagnosis; careful genetic evaluation and multidisciplinary management are therefore essential.