Dyke-Davidoff-Masson syndrome-A rare cause of recurrent seizures in adulthood.

It is important to consider DDMS as a differential diagnosis in any patient with early childhood onset of epilepsy. Early diagnosis and optimal management are key to reducing the disabling effect of DDMS.

Dyke-Davidoff-Masson syndrome: A case report of an 11-year-old child managed for Erb's Palsy.

Dyke-Davidoff-Masson syndrome (DDMS) is a rare neurological anomaly encompassing clinical features of seizures, contralateral hemiparesis, facial asymmetry, and intellectual dysfunction. Radiographic findings include cerebral hemiatrophy and ipsilateral calvarial thickening. We encountered an 11-year-old male who presented with new-onset seizures and a 4-year history of weakness in the abduction of his right arm, previously being managed as Erb's palsy. Brain MRI revealed atrophy of the left cerebral hemisphere with ipsilateral dilated ventricle and osseous thickening, consistent with the congenital form of DDMS. We present this case of an atypical presentation of DDMS.

Dyke-Davidoff-Masson Syndrome as a Rare Cause of Cerebral Hemiatrophy: Insights From a Case Series.

Dyke-Davidoff-Masson syndrome (DDMS) is an uncommon neurological condition marked by changes in the skeletal structure, cerebral hemiatrophy, and ventriculomegaly. Manifesting primarily in early life, DDMS presents with seizures, hemiplegia, facial asymmetry, and intellectual disabilities. There are congenital and acquired types of DDMS, with ischemia being the most common cause of the latter. Three cases are presented here to highlight the radiological and clinical characteristics of DDMS. The first case involves a 27-year-old male with generalized seizures and right-sided hemiparesis since childhood, along with developmental delays and facial asymmetry. The second case features a 20-year-old male with recurrent seizures and developmental delays. The third case involves a 25-year-old female with uncontrolled seizures and learning difficulties since childhood. The clinical and radiological characteristics of DDMS are demonstrated in all three cases, emphasizing the significance of early detection and differential diagnosis. Imaging techniques, such as computed tomography (CT) and magnetic resonance imaging (MRI), which demonstrate ipsilateral ventriculomegaly, brain atrophy, and associated bone abnormalities, are highly helpful in the diagnosis. Differential diagnoses include Sturge-Weber syndrome, linear nevus sebaceous syndrome (LNSS), Silver-Russell syndrome, Fishman syndrome, and Rasmussen encephalitis. Treatment aims at managing seizures and associated disabilities, with hemispherectomy considered for eligible cases. This case series underscores the significance of prompt diagnosis and multidisciplinary management in improving outcomes for individuals with DDMS.

A Rare Pediatric Neurological Case: Dyke-Davidoff-Masson Syndrome Unprecedented at 10 Months.

This case report presents a rare occurrence of Dyke-Davidoff-Masson Syndrome (DDMS) in a 10-month-old male child, highlighting the atypical presentation of this neurological disorder in early infancy. The child initially presented with irritability, loss of appetite, and right-sided weakness following episodes of fever. A comprehensive medical history revealed the sudden onset of generalized tonic-clonic seizures, prompting further investigation. Diagnostic imaging, including CT and MRI, confirmed features consistent with DDMS, including cerebral hemiatrophy, ventricular enlargement, and calvarial thickening. Notably, the child's seizures were successfully managed with antiepileptic medication, leading to stabilized vital signs. This case emphasizes the importance of considering rare neurological disorders in pediatric patients with unusual presentations and underscores the challenges in diagnosing and managing DDMS in infancy. Further research is warranted to elucidate the underlying mechanisms, contributing factors, and optimal management strategies for DDMS in this age group.

Evaluation of the contralateral hemisphere with DWI in pediatric patients with Dyke-Davidoff-Masson syndrome.

INTRODUCTION: Dyke-Davidoff-Masson Syndrome (DDMS) is a clinical syndrome that causes different clinical symptoms and is defined by volume decrement in one cerebral hemisphere. In this study, we aimed to evaluate the involvement of the normal-appearing contralateral hemisphere in 16 pediatric patients with DDMS using diffusion-weighted imaging (DWI). MATERIALS AND METHODS: Brain MRIs were retrospectively reviewed between January 2014 and January 2023. Sixteen pediatric patients radiologically compatible with DDMS were included in the study. Sixteen children who had undergone brain MRI, most commonly for headaches and whose MRI findings had been completely normal, were included as the control group. Apparent diffusion coefficient (ADC) values of the deep gray and white matter of the normal-appearing hemisphere in the patient group were calculated and compared with that of the control group. RESULTS: The ADC values of the gray and white matters of the patient and control groups were not statistically different. However, in the patient group, the ADC values of the gray and white matters in males were remarkably lower than in females (p = 0.038, p = 0.037, respectively). CONCLUSION: The difference in the ADC values of the contralateral hemisphere between females and males in the patient group suggests that the normal-appearing hemisphere may have been affected by DDMS. Although, the exact mechanism of this effect is not known. Therefore, in patients with DDMS, contralateral hemisphere involvement in cerebral hemiatrophy and hemispherectomy should be evaluated clinically and radiologically.

Presentation of Dyke-Davidoff-Masson Syndrome in a 32-Year-Old Female: Report of a Rare Case With a Literature Review.

Dyke-Davidoff-Masson syndrome (DDMS) is a rare congenital or acquired neurological disorder that most commonly affects the pediatric population but is also rarely reported in adults. DDMS results from brain injury in the intrauterine or early years of life. It is characterized by prominent cortical sulci, hyperpneumatization of the frontal sinus, unilateral cerebral hemiatrophy with ventricular dilation, and associated bony thickness of the cranial vault. Seizures and asymmetric hemiparesis are the most consistent findings in DDMS with facial asymmetry and mental retardation widely reported. Herein, we report a case of a 32-year-old female patient with DDMS presenting with a history of seizure and right-sided hemiparesis. Neuroimaging findings showed asymmetric cerebral encephalomalacia and gliosis with ex vacuo ventricular dilatation and calvarial diploic space widening. Our case report is unique in the sense that our patient presented with DDMS in adulthood with no signs of mental retardation or history of seizures during childhood and well-controlled seizures on monotherapy. Given the adult presentation of DDMS is unusual and rarely reported in the medical literature, our case report will help physicians to keep DDMS high on differential diagnoses in such cases. Awareness of the clinical features of DDMS on imaging can facilitate a timely and accurate diagnosis, thereby enabling appropriate and prompt management.

Dyke-Davidoff-Masson Syndrome: Main clinical and radiological findings- systematic literature review.

INTRODUCTION: Dyke-Davidoff-Masson syndrome (DDMS), or cerebral hemiatrophy, was first described in 1933. It is characterised by cerebral injury that causes hypoplasia in one of the cerebral hemispheres. The disease has different clinical degrees and two aetiologies: congenital and acquired. Radiological findings depend on the degree of injury and the patient's age at the time. OBJECTIVE: To provide information on the main clinical and radiological characteristics of this disease. METHODS: A systematic review of the PubMed, MEDLINE, and LILACS databases was conducted using only one keyword. Dyke-Davidoff-Masson syndrome. A total of 223 studies were identified, and the results are presented in tables and graphics. RESULTS: The mean age of the patients was 19.44 (0-83 years), and the majority were male (55.32%). The most common types of epileptic seizures were generalised tonic-clonic seizures (31 cases), focal impaired awareness seizures (20 cases), focal motor seizures (13 cases), focal to bilateral tonic-clonic seizures (nine cases), and focal myoclonic seizures (one case). The main features of the disease were rapid deep tendon reflexes and extensor cutaneous-plantar tendon reflexes (30 cases - 16%), contralateral hemiparesis or hemiplegia (132 cases - 70%), gait alterations (16 cases - 9%), facial paralysis (nine cases - 5%), facial asymmetry (58 cases - 31%), limb asymmetry (20 cases - 11%), delayed developmental milestones (39 cases - 21%), intellectual disability (87 cases - 46%), and language/speech disorders (29 cases - 15%). Left hemisphere atrophy was the most prevalent. CONCLUSION: DDMS is a rare syndrome, and several questions regarding this disease remain unanswered. This systematic review aims to elucidate the most common clinical and radiological aspects of the disease and emphasises the need for further investigation.

Dyke-Davidoff-Masson Syndrome: A Classic Case Report.

Dyke-Davidoff-Masson syndrome (DDMS) is a rare neurological disorder found in children as well as adults. It is characterized by hemi cerebral atrophy. To date, very few cases of this disorder have been reported. Radiological imaging including magnetic resonance imaging (MRI) and computed tomography (CT) are accurate tools for the diagnosis of DDMS. We present a case of a 13-year-old female child who came with complaints of multiple episodes of generalized tonic-clonic seizures. In our case, clinical history and imaging with CT and MRI were accurate enough to diagnose DDMS.

A Case Report on Dyke-Davidoff-Masson Syndrome: A Rare Cause of Hemiparesis.

Infantile hemiparesis resulting from Dyke-Davidoff-Masson syndrome (DDMS) is an uncommon condition, especially in patients with no positive natal history. The age of presentation is dependent on when the neurologic insult occurred, and distinctive alterations may not appear until puberty. The left hemisphere and the male gender are more frequently involved. Common findings that can be seen are seizures, hemiparesis, mental retardation, and facial changes. Characteristic MRI findings are dilation of the lateral ventricles, hemiatrophy of the cerebrum, frontal sinus hyperpneumatization, and compensatory hypertrophy of the skull. Here, we report a 17-year-old female patient who reported physiotherapy treatment after the attack of epilepsy, with the complaint of inability to use the right hand for functional activities and gait deviations. Patient examination revealed typical chronic hemiparesis of the right side with mild cognitive affection. Brain investigation confirms the diagnosis of DDMS.

Dyke-Davidoff-Masson Syndrome: A Case Report.

Dyke-Davidoff-Masson syndrome (DDMS) is a rare neurological entity that is predominantly seen in childhood. Here, we present the case of a 13-year-old girl who was brought to the pediatric ward for general examination with a previous history of seizures, speech difficulty, facial deviation, and progressive left-sided hemiparesis that started at the age of two, followed by delayed developmental milestones. Computed tomography (CT) and magnetic resonance imaging (MRI) of the brain showed right cerebral hemiatrophy, ventriculomegaly, hyperpneumatization of the sinus, the decreased caliber of cortical veins, and skull thickening on the right were all characteristic findings of DDMS. Based on the history, clinical presentation, and imaging findings from CT and MRI, DDMS was confirmed. Identifying DDMS in a clinical setting can be challenging because of low awareness of the condition and varied clinical presentations. Although CT and MRI imaging are the gold standards in diagnosing DDMS, the early manifestations of the disease cannot be well-appreciated on a CT and would likely require an MRI. Since there is no standardized protocol for managing DDMS, the treatment is primarily symptomatic. Early identification and diagnosis of the syndrome are essential to aid the child's mental and physical development through a multidisciplinary approach. There is also a need to improve awareness of DDMS so that the condition can be considered a potential differential diagnosis amongst other similar conditions and does not get misdiagnosed. The lack of a proper protocol for the management of DDMS prompts more research for a better understanding and early identification of the condition.

A Case of Dyke-Davidoff-Masson Syndrome with Hypoplasia of the Kidney: An Unusual Association.

Dyke-Davidoff-Masson syndrome (DDMS) is a rare neuro-osteal syndrome of childhood and a constellation of cerebral hemiatrophy, facial asymmetry, seizures, osseous changes, and hemiplegia. It commonly presents with seizures and hemiplegia. The involvement of the kidney in DDMS is not known in the available literature, except in a case report that described ectopic kidney in DDMS. We present the case of a 15-year-old boy who presented with recurrent seizures, right facial palsy, left hemiparesis, and advanced renal failure. The neuroimaging revealed diffuse right cerebral atrophy, dilatation of the ipsilateral lateral ventricle, and ipsilateral thickening of the calvaria. The nephrological evaluation suggested the diagnosis of chronic kidney disease stage VD, probably secondary to congenital hypoplasia of the kidney.

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

The Duke-Davidoff-Masson syndrome (DDMS) is a rare neurological condition with unknown prevalence, globally. To date, <100 cases have been reported worldwide. We report the case of an 18-year-old patient admitted for status epilepticus seizure, and who presented a right hemiparesis, body asymmetry, joints ankylosis, and mental retardation. Brain CT-scan revealed left hemisphere atrophy, skull bone thickening, and hyperpneumatization of the frontal sinuses; all consistent with DDMS. Seizures improved remarkably on Levetiracetam and Valproate. This is the first report of an unusual DDMS in Mali, and the diagnosis delay highlights the challenges for the management of these diseases in resource-limited settings.

Dyke-Davidoff-Masson syndrome: Imaging diagnosis in an asymptomatic adult.

Dyke-Davidoff-Masson syndrome (DDMS) was first described in 1933 as a cerebral condition of hemispheric atrophy characterized clinically by contralateral hemiparesis, facial-asymmetry, seizures, and mental retardation. Neuroimaging findings include asymmetric thickening of the calvarium and enlargement of frontal and ethmoid sinuses. There have been 21 reported cases described in the literature with the syndrome undiagnosed until adult age, likely due to less severe or absent clinical findings or symptoms as described in the case presented in this report. This article describes a case where the Dyke-Davidoff-Masson imaging features were identified as an incidental finding on a CT scan of the brain performed for non-seizure related symptoms. A 54-year-old woman presented with weakness and gait difficulty and only upon further evaluation was she found to have cranial deformities. CT and MRI demonstrate encephalomalacia in the right frontal lobe anteriorly with gliosis and moderate unilateral cerebral atrophy, and extensive hypertrophy of the right frontal calvarium, right ethmoid cells and frontal sinuses.

Dyke-davidoff-masson syndrome: A case report of an adolescent boy at a tertiary hospital in Adamawa, North-Eastern Nigeria.

Dyke-Davidoff-Masson Syndrome (DDMS) is a rare clinical condition in which atrophy or hypoplasia of one cerebral hemisphere occurs secondary to brain insult during fetal or early childhood, which results in variable clinical manifestations like hemiparesis, seizures, expressive aphasia, and mental retardation. This rare entity mainly presents in childhood and is unusual in adults. DDMS is a rare cause of epilepsy and should be considered and excluded in cases of refractory seizures. Few cases have been reported from a developing nation like Nigeria but not from the north-eastern part of Nigeria to the best of our knowledge. Though fewer specialists exist in Adamawa State, efforts to train more specialists and education of medical officers to manage this rare case need to be strengthened. Herein is a case of an adolescent boy with recurrent generalized tonic-clonic convulsions complicated by left-sided hemiparesis, expressive aphasia, and mental age equivalent of a six-year-old by the Goodenough draw-a-person test. Found to be obese with Body Mass Index (BMI) of 29 kg/m2 (Z-score >2 Standard deviation SD), microcephaly, Occipito-frontal Circumference (OFC) of 45 cm (Z-score > -3 SD), spastic left-sided hemiplegia and hemiplegic gait. Magnetic resonance imaging (MRI) of the brain showed hyper-intensity in the right cerebral hemisphere, extensive atrophy of the right cerebral hemisphere involving the ipsilateral fronto-temporoparietal lobes, cerebral peduncle, and a contralateral megalencephaly, ipsilateral lateral ventricular dilatation, hypertrophic calvarium, hyperpneumatization of sphenoidal sinuses and midline shift due to loss of volume on the right. A diagnosis of Dyke-Davidoff-Masson syndrome was made; the patient did well on carbamazepine and physiotherapy. Caregivers were counseled, and the patient was discharged home and is currently on a follow-up visit.

Dyke-Davidoff-Masson syndrome: A rare case of hemiatrophy of brain-Case report from Nepal.

Dyke-Davidoff-Masson syndrome (DDMS) is a rare neurological disorder that results from brain injury during intrauterine or early years of life. Prominent cortical sulci, dilated lateral ventricles, cerebral hemiatrophy, hyperpneumatization of the sinus, and compensatory hypertrophy of the skull are the characteristic findings. We describe a female patient who presented with a history of seizure, right-sided body weakness, and neuroimaging features of left cerebral hemiatrophy, dilatation of left lateral ventricle, left frontal sinus hyperpneumatization, asymmetric calvarial thickening, and elevation of the petrous ridge.

Dyke-Davidoff-Masson syndrome: A case report with a literature review.

Dyke-Davidoff-Masson syndrome (DDMS) is an uncommon neurological disease defined as cerebral hemiatrophy with a contralateral motor deficit, facial asymmetry, and seizures. Classic imaging findings are cerebral hypoplasia, ventriculomegaly, paranasal sinus hyper-pneumatization, and compensatory osseous enlargement. The diagnosis of DDMS is based on the correlation between clinical and neuroimaging features. The management of DDMS is based on anticonvulsant medication with physiotherapy. We describe an unusual case of DDMS presented with frequent and persistent seizures.

An Adult With Dyke-Davidoff-Masson Syndrome: A Case Report.

Dyke-Davidoff-Masson syndrome (DDMS) is a rare disease affecting the brain with almost 100 cases previously reported, with only 21 cases among adults. Due to the intricacy of clinical manifestations and radiological findings, it is difficult to reach the diagnosis. It usually includes atrophy of the cerebral hemisphere, dilation of the lateral ventricle, hypertrophy of skull bones, and hyperpneumatization of air sinuses. Herein, we present a case of a 55-year-old female patient who presented with a new-onset seizure. This case emphasizes the importance of considering DDMS in the differential diagnosis of adult-onset seizures, especially in patients with a previous history of brain insult, and demonstrates the possibility of developing this condition despite the lack of childhood symptoms. To our knowledge, this is the first case reported in Jordan.

A Novel Splice-Site Deletion in the POU1F1 Gene Causes Combined Pituitary Hormone Deficiency in Multiple Sudanese Pedigrees.

Pathogenic variants within the gene encoding the pituitary-specific transcription factor, POU class 1 homeobox 1 (POU1F1), are associated with combined pituitary hormone deficiency (CPHD), including growth hormone, prolactin, and thyrotropin stimulating hormone deficiencies. The aim of the study was to identify genetic aetiology in 10 subjects with CPHD from four consanguineous Sudanese families. Medical history, as well as hormonal and radiological information, was obtained from participants' medical records. Targeted genetic analysis of the POU1F1 gene was performed in two pedigrees with a typical combination of pituitary deficiencies, using Sanger sequencing, and whole-exome sequencing was performed in the other two pedigrees, where hypocortisolism and additional neurologic phenotypes were also initially diagnosed. In POU1F1 gene (NM_001122757.2) a novel homozygous splice-site deletion-namely, c.744-5_749del-was identified in all 10 tested affected family members as a cause of CPHD. Apart from typical pituitary hormonal deficiencies, most patients had delayed but spontaneous puberty; however, one female had precocious puberty. Severe post-meningitis neurologic impairment was observed in three patients, of whom two siblings had Dyke-Davidoff-Masson syndrome, and an additional distantly related patient suffered from cerebral infarction. Our report adds to the previously reported POU1F1 gene variants causing CPHD and emphasises the importance of genetic testing in countries with high rates of consanguineous marriage such as Sudan. Genetic diagnostics elucidated that the aetiologies of hypopituitarism and brain abnormalities, identified in a subset of affected members, were separate. Additionally, as central hypocortisolism is not characteristic of POU1F1 deficiency, hydrocortisone replacement therapy could be discontinued. Elucidation of a genetic cause, therefore, contributed to the more rational clinical management of hypopituitarism in affected family members.

Preserved visuospatial abilities in absence of the right hemisphere: A case of cerebral hemiatrophy with minimal cognitive impairment.

Cerebral hemiatrophy is a rare neurological condition, usually resulting in severe and diffuse cognitive impairment. In this paper we present a 69-year old woman with notable congenital hemiatrophy with strikingly preserved cognitive functions. Cognitive assessment indicated that although her executive functions were found impaired, the remaining cognitive domains were relatively unaffected. We argue that this unexpected cognitive profile may be explained by anomalous hemispheric lateralization, driven by neuroplasticity along the developmental course.