Journal Article

A Patient Case of Malan Syndrome Involving 19p13.2 Deletion of NFIX with Longitudinal Follow-Up and Future Prospectives

Makker, Simran, Mougios, Vivian, Hanna, Anne, Trew, Isabella, Gagnon, Bernadine R., Cale, Jessica M., McIntosh, Craig S.

2024

Overview

Background and Objectives: Malan syndrome is a rare overgrowth syndrome resulting from NFIX haploinsufficiency due to heterozygous loss-of-function mutations or microdeletions of NFIX on chromosome 19 at p13.2. Phenotypic presentation can vary but is characterized by macrocephaly, long and slender body habitus, skeletal abnormalities, and intellectual disability. Methods: Here, we report on the presentation, management, and development of a patient with Malan syndrome, highlighting the clinical and behavioral aspects of this syndrome, therapeutic interventions employed, and the course of disease over a 15-year period. We review medical records, cytogenetic analysis and neuropsychologic testing results, as well as speech pathology, optometric, and medical reports. In addition, we discuss personalized therapeutic strategies that could potentially be exploited in the future for such overgrowth syndromes. Results: To our knowledge, this is the first longitudinal follow-up report of a case of Malan syndrome to highlight the clinical course, interventions employed, and resulting improvements in neurocognitive function over time. Conclusions: This case highlights the importance of early diagnosis, intervention, and preventative care in overgrowth syndromes, as well as the potential for therapeutic intervention in the future.

• Publisher: MDPI AG,MDPI
• Subject: Age / Care and treatment / Case Report / Case studies / Core curriculum / Diagnosis / Executive function / Genetic disorders / Language / Memory / Mutation / Reading comprehension / Special education / Transcription factors