A case report with the peculiar concomitance of 2 different genetic syndromes

Abstract

Rationale:Down syndrome (DS) is the most common chromosome disorder in live born infants, affecting several body systems, but usually sparing skeletal muscles. We present the case of a child with coexistence of DS and dystrophinopathy. Only 1 similar case has been reported so far.Patient Concerns:An 8-year-old boy with DS had a history of incidental finding of increased serum creatine kinase levels up to 1775 U/L (normal values 38–174 U/L). He presented no delay in motor development; at the neurological examination, no muscle weakness or fatigability was detected in 2 different evaluations performed over a 6-month period.Diagnoses:Skeletal muscle biopsy revealed marked dystrophic changes with patchy immunostaining for dystrophin. The Duchenne muscular dystrophy gene was screened for deletions by multiplex polymerase chain reaction, but no mutations were found. Sequence analysis of the Duchenne muscular dystrophy gene revealed a splice-site mutation c.1812+1G>A in intron 15 and confirmed a diagnosis of Becker muscular dystrophy.Interventions:The patient has started a specific physiotherapy that avoided any deterioration in motor development and muscular wasting.Outcomes:A multidisciplinary follow-up was initiated. The genetician that followed the patient for DS was supported by the neurologist, the physiotherapist, the pulmonologist, and the cardiologist.Lessons:This peculiar “double trouble” case exemplifies the value of careful clinical evaluation and adequate clinical experience to identify the concomitance of 2 different genetic syndromes in the same patient, and it points out the significance of muscular strength assessment in DS patients to make the most correct prognosis, and, consequently, to organize the best long-term care.

Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically

“…In addition, nonsense mutations in the dystrophin gene can, in some cases, be rescued by in-frame exon skipping, carrying a milder BMD phenotype [4]. A similar case with the concurrent identification of a very mild myopathic phenotype caused by DMD exon 15 skipping in a patient with Down syndrome has been recently reported [16]. Immunohistochemistry of dystrophin showed the correct dystrophin localization at the sarcolemma, with only weaker immunostaining with rod-domain specific antibodies.…”

Co-Occurrence of Myotonic Dystrophy Type 1 and Limb-Girdle Muscular Dystrophy Type 2B: A Case Report

“…Starosta [Starosta et al, 2022] described a case of a child diagnosed with Pompe disease and sickle cell anemia. Lerario [Lerario et al, 2016] reported a boy with Down syndrome and increased CK levels that yielded a co-diagnosis of Becker muscular dystrophy. Xia [Xia et al, 2021] reported variants in two genes in a patient presenting with both manifestations of spinal muscular atrophy and Duchenne muscular dystrophy.…”

A new allelic variant of periventricular nodular heterotopia type 7 in a patient with adrenogenital syndrome due to a 21-hydroxylase deficiency

“…В результате применения МПС стали выявляться как сочетания заболеваний, клинические проявления которых уже отмечены у больных, так и сочетания заболеваний, одно из которых манифестирует в более позднем возрасте и диагностируется до развития клинических проявлений [1,2]. Кроме того, описано сочетание у одного больного моногенного заболевания и хромосомного синдрома [3,4]. Для уточнения диагноза могут быть использованы различные молекулярные и цитогенетические методы: аллель-специфичная мультиплексноая лигаза-зависимая ПЦР (MLPA), МПС, исследование кариотипа с использованием дифференциальной окраски и хромосомный микроматричный анализ.…”