A More Precise Description of the AKT2 ‐Related Hypoinsulinemic Hypoglycemia and Overgrowth Syndrome Phenotype, Formerly Described Under the MORFAN Acronym

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The AKT2-related hypoinsulinemic hypoglycemia and overgrowth syndrome was initially described over 30 years ago as MORFAN syndrome which was an acronym for Mental retardation, pre- and post-natal Overgrowth, Remarkable Face, and Acanthosis Nigricans. Despite the limited possibility of confirming a diagnosis on the molecular level at that time, a comprehensive 30-year follow-up of a patient facilitated a detailed exploration of the syndrome's clinical trajectory. This article presents a case report spanning three decades, highlighting the significance of detailed clinical follow-up in understanding and studying this unique syndrome. Although initially associated with intellectual deficiency, the patient's intellectual abilities remain largely within the normal range. Neuropsychological examinations revealed selective neurocognitive impairment, with a predominant disruption in psychomotor speed and executive functions. Molecular genetic examination confirmed a pathogenic variant in the AKT2 gene, associated with impaired insulin metabolism and increased tumorigenesis risk. Neurooncological assessments revealed intracranial meningiomatosis, emphasizing the syndrome's potential oncological implications. Surgical interventions addressed various complications, including meningiomas and renal hamartomas. The presented case offers valuable insights into the long-term natural history of AKT2-related hypoinsulinemic hypoglycemia and overgrowth syndrome, suggesting the importance of regular oncological surveillance due to its predisposition to tumorigenesis, thereby providing clinical considerations for future cases based on long-term follow-up experience.

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