DOI: 10.1097/md.0000000000050052 ISSN: 0025-7974

Severe, rapidly progressive, atypical scoliosis with macrocephaly and a de novo phosphatase and tensin homolog missense variant: A case report

Chen Liu, Honggen Du, Yinling Sun, Xiaomin Chen, Kaiqi Wang, Junxiang Dong, Shao Chen
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Rationale:

Early-onset, rapidly progressive, markedly asymmetric, or otherwise atypical scoliosis should prompt evaluation for an underlying genetic etiology. Variants in phosphatase and tensin homolog ( PTEN ) are associated with macrocephaly and a broad spectrum of developmental phenotypes; however, their clinical relevance to severe atypical scoliosis remains infrequently described. This case highlights the potential diagnostic value of genetic evaluation in patients with atypical scoliosis accompanied by abnormal head growth.

Patient concerns:

A 13-year-3-month-old boy presented with scoliosis that was first recognized at 9 years of age and subsequently progressed markedly. He exhibited early-onset, rapidly progressive, markedly asymmetric scoliosis accompanied by macrocephaly.

Diagnoses:

Exome sequencing identified a heterozygous PTEN missense variant, NM_000314.8:c.276C>A (p.D92E), classified as pathogenic. Parental testing showed wild-type alleles in both parents, supporting a de novo origin. The overall findings were consistent with severe, rapidly progressive atypical scoliosis accompanied by macrocephaly and a de novo PTEN variant.

Interventions:

Because the family declined surgical treatment, multimodal conservative management was initiated, consisting of a Chêneau brace worn for 21 hours per day, physiotherapeutic scoliosis-specific exercises for 2 hours per day, and adjunctive manual therapy.

Outcomes:

During the 12 months of follow-up, no further radiographic progression was observed, and the trunk appearance remained relatively stable. No major treatment-related adverse events were reported.

Lessons:

Early genetic evaluation should be considered in patients with scoliosis characterized by early onset, rapid progression, marked asymmetry, and atypical curve patterns, particularly when accompanied by macrocephaly. A de novo PTEN variant may provide an important diagnostic clue in such cases. For patients with severe scoliosis harboring a PTEN variant who decline surgery, multimodal conservative treatment may serve as a bridging strategy to achieve short-term curve stability, while continued multidisciplinary assessment, genetic counseling, and long-term surveillance for potential PTEN -related manifestations remain essential.

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