Clinical characteristics and neuroimaging findings of seven patients with Dyke Davidoff Masson syndrome

Abstract

Background DDMS is a rare disease diagnosed by clinical and radiological characteristics. But the complexity of radiological and clinical manifestations of DDMS has become a challenge diagnostically. To date, the reported cases with DDMS had highly varied clinical manifestations including seizures, contralateral hemiplegia/hemiparesis, facial asymmetry, mental retardation, etc. In addition to typical clinical findings, some new characteristics have been recently added to the spectrum of DDMS. However, few cases have been reported to be associated with neuropsychiatric symptoms according to the literature. This study aimed to investigate the neuropsychiatric manifestations associated with Dyke-Davidoff-Masson syndrome (DDMS) and related imaging findings. Methods This study included 7 patients diagnosed with DDMS between 2014 and 2020. The clinical characteristics, neuropsychiatric manifestations, and radiological results were retrospectively evaluated. Results Seven patients (five males and two females) with a mean age of 28.0 ± 9.73 (range 15.0–41.0) years were included. Five patients were admitted to the psychiatric unit due to psychological and behavioral disorders. Two patients were referred to the neurology unit mainly due to epilepsy. Six patients had epileptic seizures, 4 had hemiplegia, 3 had mental retardation, 2 patients had external ear deformities, and 2 had facial asymmetry. Neuropsychiatric symptoms were presented in 6 (85.7 %) cases. Cases 2–6 developed affective disorders. Deficits in verbal communication, impairment of social interaction, lack of insight, adulia and hypobulia appeared in cases 1–4. Schizophrenia with apathy, and epileptic schizoid psychosis were observed in cases 4 and 5 respectively. Case 6 had behavioral disorders, hyperactivity, tic disorder, mental retardation, anxiety, catatonic symptoms and suicidal tendency. Case 7 had seizures and mental retardation, and no psychiatric symptoms were presented. Radiological examinations showed unilateral cerebral atrophy, enlarged lateral ventricles, and various compensatory hypertrophy of the skull in all cases. The midline structure has shifted to the affected side in 5(71.4 %) cases. Atrophy of the basal ganglia or brain stem was observed in 4(57.1 %) cases. Conclusions The hallmark imaging manifestations of DDMS facilitated the diagnosis in most cases. This study illustrated that a variety of psychoneurotic disorders and ear abnormalities were correlated with DDMS.

Dyke-Davidoff-Masson Syndrome as a Predecessor of Recurrent Seizures in an Adult Male: A Report of a Rare Case

“…Initially, he complained of headaches, followed by episodic complex partial seizures. This rare condition can be missed if not diligently sought for because these characteristic imaging findings become gradually evident with increasing age [5]. Especially the calvarial thickening suggests cerebral damage in the intrauterine period [6][7][8].…”

“…Nine patients with hemiparesis, facial asymmetry, seizures, intellectual disability, and findings of pneumatoencephalographic changes on skull radiography presented with DDMS, a rare neurological condition named after the three doctors who first described it in 1933 [ 4 ]. Although the exact cause of DDMS remains unknown, previous studies have linked the disorder to a brain injury that occurred either in utero or during early childhood as a result of trauma, ischemia, hemorrhage, or infection [ 5 ]. This condition is known as the congenital subtype and manifests in infants.…”

An unusual case of Dyke-Davidoff-Masson syndrome revealed by status epilepticus in a Malian patient

“…12 The clinical manifestations encompass a focal and/or generalized drugs-resistant epilepsy, hemiparesis or hemiplegia, facial or body asymmetry with atrophy and mental retardation as seen in our patient. 2,3 Besides these manifestations, rare cases may include cerebellar atrophy, neuropsychiatric disorders and ear malformations. 3 However, the disease phenotype can vary from one patient to another, and some may not present epilepsy, mental retardation or body asymmetry.…”

“…2,3 Besides these manifestations, rare cases may include cerebellar atrophy, neuropsychiatric disorders and ear malformations. 3 However, the disease phenotype can vary from one patient to another, and some may not present epilepsy, mental retardation or body asymmetry. 13 The patient was referred for convulsive status epilepticus that led to the diagnosis as seen in previous reports.…”

“…2 Some patients may present with additional symptoms including cerebellar and basal ganglia atrophy, ear malformations and neuropsychiatric disorders. 3,4 DDMS' etiologies are broadly categorized into congenital and acquired. 5 Congenital causes of DDMS include intrauterine vascular injury and cerebral hemispheric hypoperfusion and acquired causes mostly derive from birth trauma, periventricular leukomalacia, cerebral hemorrhage, cerebral infarction, cerebral infection, radiation, postictal cerebral hemiatrophy, and prolonged febrile seizures.…”