Adult Presentation of Dyke–Davidoff–Masson Syndrome, a Radiological Enigma: A Case Report

TL;DR

A rare neurological condition, Dyke–Davidoff–Masson syndrome, was diagnosed in an adult woman after being typically identified in children.

Contribution

This case report highlights the rare adult presentation of DDMS and emphasizes the importance of early diagnosis.

Findings

MRI confirmed DDMS features in a middle-aged woman, including cerebral hemiatrophy and hyperpneumatization.

Late diagnosis of DDMS can affect lifestyle due to delayed medical consultation.

Symptomatic management is the primary treatment approach for DDMS.

Abstract

Introduction and Importance: Dyke–Davidoff–Masson syndrome (DDMS) is a rare neurological condition characterized by focal or generalized drug-resistant epilepsy, hemiparesis, face or body asymmetry with atrophy, and cognitive impairment in early childhood and adulthood. DDMS is generally diagnosed in the paediatric age group. Neuroimaging shows skull bone thickening with cerebral hemiatrophy and hyperpneumatization of sinuses.

Case Presentation: Here is a case of a middle-aged female presenting with a history of multiple episodes of seizure since childhood. MRI showed diffuse atrophy of the left cerebral hemisphere with hypertrophy of the contralateral hemisphere, hyperpneumatization of the left frontal sinus, and thickened calvaria, all characteristics of DDMS. Based on the history, clinical findings, and MRI reports, it was diagnosed as a case of DDMS.

Discussion: DDMS can be due to injury to the brain, either intrauterine or during early childhood. The features can be confused with other conditions like Rasmussen encephalitis, hemiconvulsion-hemiplegia-epilepsy (HHE syndrome), Sturge–Weber syndrome, Silver–Russell syndrome, basal ganglia germinoma, Fishman syndrome, and linear nevus syndrome. Before making a diagnosis, a proper antenatal and postnatal history with early childhood presentations should be taken. Occupational therapy, physiotherapy, and seizure control improve the patient's quality of life.

Conclusion: Though DDMS is usually diagnosed during early childhood, a few missed cases lead to later findings in life, resulting in late medical consults and affecting an individual's lifestyle. Management includes only symptomatic relief. Paediatricians, radiologists, neurologists, and gynaecologists need to be well-informed about the case for its early diagnosis and management.

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