Search

Children and adolescents with localized scleroderma (LS) are at high risk for extracutaneous-related functional impairment including hemiatrophy, arthropathy, seizures, and vision impairment. Compared with adult-onset LS, pediatric disease has a higher likelihood for poor outcome, with extracutaneous involvement twice as prevalent in linear scleroderma, disease relapses more common, and disease duration more than double. Consensus among pediatric rheumatologists on treating patients at risk for significant morbidity with systemic immunosuppressants has led to major improvements in outcome. This review discusses recent progress in assessment and treatment strategies and in our understanding of key disease pathways.

El síndrome de Eagle es una patología poco frecuente causada por un proceso estilohioideo elongado osificado. La estiloides elongada es habitualmente asintomática. Se diagnostica por su presentación clínica y se confirma por imágenes. La estiloides está elongada cuando mide más de 30 mm. Pero sin correlación entre el largo con la intensidad de la clínica. La correlación entre el largo de la estiloides y los síntomas es escasa o nula. El síndrome fue descripto originalmente como dolor tonsilar/facial post amigdalectomía. Desde entonces aparecieron comunicaciones de otras patologías asociadas a la elongación del proceso estiloideo como dolor dental, disección carotídea, estenosis de la vena yugular interna, signo de Horner aislado o acompañado, muerte súbita, aneurismas carotídeos, neuralgia trigeminal de 3ª rama, hemiatrofia lingual y fasciculaciones y otros. Discutimos los diagnósticos imagenológicos y tratamientos, especialmente quirúrgicos y enfatizamos el escaso alerta para incluir esta patología entre los diagnósticos zonales.

Introduction. Infantile hemiconvulsion?hemiplegia and epilepsy (IHHE) syndrome is defined as a specific syndrome in patients < 2 years of age, presenting as a new onset refractory status epilepticus with unilateral motor seizures and acute imaging abnormalities, fever, hemiparesis > 24 hours, and excluding infectious encephalitis. Case outline. We present the results of a follow-up in a 11-year-old girl with IHHE, associated with GRIN2A mutation. The girl had normal development until the first febrile hemiconvulsive status epilepticus at the age of seven months. Neuroimaging initially showed right hemisphere edema, followed by progressive right side hemiatrophy. The patient has resistant epilepsy, left side hemiparesis, and good language and cognitive development. Conclusion. Despite IHHE described many years ago, some syndrome?s features, including etiology, have remained unexplained. The association between IHHE and GRIN2A mutation stated in the current manuscript is described in scientific literature for the first time.

The objective of our study was to improve the diagnosis of maxillofacial lesions in children with juvenile scleroderma. We performed a dental examination of 41 children from 4 to 17 years old with juvenile scleroderma. Based on the clinical X-ray examination we identified the main diagnostic signs of the maxillofacial damage in children with juvenile scleroderma, including partial hemiatrophy, plaque or linear facial lesions, reduced salivation, atrophic glossitis, plaque spots of mucous tongue atrophy, ischemia or shortening of the sublingual bridle, local recession of the gums of the lower jaw, dystopia and tooth supraposition, disocclusion, delay teething, spontaneous resorption of the permanent teeth roots, one-sided delay in the development of jaw bones. Using this complex of symptoms a dentist at the first visit can pre-diagnose scleroderma, which is especially important for the selection of adequate methods of treatment and prevention.

Background In sub-Saharan Africa, encephalitis of various etiologies is a major public health problem and Rasmussen syndrome is rarely diagnosed due to under-medicalization. The objective of this study is to describe the clinical and neuroradiological forms, especially since this affection is little known in sub-Saharan Africa as evidenced by the scarcity of publications. Results A retrospective, descriptive and analytical study of six (6) cases of Rasmussen syndrome, shows that it is an unrecognized disease in Africa. Men were more represented with a frequency of 67% with a young age. The clinical picture dominated by 100% seizures, mental deterioration and hemiparesis. The etiology is still questionable, probably autoimmune in our study. Conclusion Rasmussen syndrome accounts for 3% in 219 patients hospitalized for epileptic conditions. This study shows a clinical profile dominated by recurrent epileptic seizures refractory to the drugs Phenobarbital, Valproic Acid and Carbamazepine, the only antiepileptics available in the country. These results are valid for therapeutic and prognostic discussion.

Introduction: Dyke-Davidoff-Masson syndrome (DDMS) is a rare condition in childhood with very few cases reported in sub-Saharan Africa. Typically, the patient presents with facial asymmetry, seizures, and hemiparesis. Radiological findings include cerebral hemiatrophy, ipsilateral lateral ventricular dilatation, and hypertrophy of the calvarium and sinuses. Case presentation: We present the report of a 3-year-old male with weakness of right upper and lower limbs, facial asymmetry, and seizures. Physical examination showed a well-nourished child with a squint of the right eye. There were brisk tendon reflexes with right-sided hemiplegia which is spastic with left limb preference. Computer tomography of the brain showed atrophy of the left cerebral hemisphere, ipsilateral lateral ventricular dilatation, and thickening of the ipsilateral cranium. The diagnosis of Dyke-Davidoff-Masson syndrome was made. He was treated with sodium valproate and lamotrigine and presently physiotherapy and he had remained seizure-free. Conclusion: Dyke-Davidoff-Masson syndrome still affects children despite being a rare condition. There is a need for appropriate clinical and radiological assessment for the diagnosis of DDMS. Early identification and appropriate treatment will improve the general outcome of children with DDMS.

We report a case of 8-year-old boy with unexplained desaturation and clubbing. Echocardiography showed anomalous drainage of right superior vena cava into left atrium. He did not have any neurological symptoms preoperatively. Some perioperative observations and subtle postoperative behavioral changes prompted us to investigate him further. He was found to have extensive cerebral arteriovenous malformations and hemiatrophy of brain.

Background Parry-Romberg syndrome is characterized by progressive hemiatrophy of the skin, subcutaneous tissue, muscle and bones of the skull. Its incidence is low, with a progressive and slow course. Its etiology is unknown, but it has been associated with several factors. Its clinical presentation involves dermatological, musculoskeletal and neuropsychiatric manifestations. The treatment consists of medical and surgical strategies. The use of steroids, alone or in combination with immunomodulators, has the objective of slowing down progression. The surgical treatment lies in facial reconstruction or volumetric regeneration, to correct the appearance and function of facial structures. The objective is to show three cases of Parry-Romberg syndrome with the representative characteristics of the disease. Clinical cases 1) A 41-year-old woman with atrophy and right supraciliary hypochromia associated with seizures and headache. 2) A 43-year-old woman with parietal deformation and right supraciliary atrophy, associated with facial paralysis, depression and headache. 3) A 36-year-old woman with right hemifacial atrophy associated with ocular involvement and headache. The indicated treatment was based on a systemic steroid plus a cytostatic agent. The surgical treatment was evaluated according to the affection of facial structures. Conclusions Parry-Romberg syndrome is a rare disease, characterized by progressive atrophy. Clinical manifestations determine the diagnosis and early start of medical and surgical treatment.

Schizencephaly is a very rare neurological disorder usually discovered during radiological evaluation of children and young adults with seizure disorders or neurodevelopmental anomalies. We present a 66-year-old patient with right-sided hemiatrophy and paresis presenting with an adult-onset seizure disorder. Her seizure was satisfactorily controlled with a single-therapy antiseizure drug. Congenital brain lesions should be part of the differential diagnoses in patients with epilepsy who have body asymmetry dated back to childhood.

Parry-Romberg syndrome is a rare disorder with progressive hemifacial atrophy of unknown etiology. We reported 2 cases of progressive hemifacial atrophy with different neurological manifestations from Kuwait. The first case was a 14-year-old boy who initially presented with recurrent transient stroke-like episodes followed by focal seizures and hemifacial atrophy. Magnetic resonance imaging showed significant white matter changes and cerebral hemiatrophy. The second case was a 7-year-old girl who presented with complex partial seizures and hemifacial atrophy, her magnetic resonance imaging scan showed minimal changes in the hemiatrophy of the temporal cerebral lobe. Both patients’ disease activity was well controlled with immunosuppressive therapy and anticonvulsants. Parry-Romberg syndrome should be considered in any child with unexplained neurological symptoms.

We discuss the case of a 27-month-old girl afflicted with fibromuscular dysplasia. She presented with hemiatrophy of left upper and lower limbs, nail dystrophy, ulcers on the tips of her toes, cold and painful limbs, foot drop, and hypertension. The initial appearance started at 2 months of age and other diagnoses such as complex regional pain syndrome, reflex sympathetic syndrome, vasculitis and coagulation disorders had been considered. Angiography revealed that all the arterial branches of the left lower and upper limbs, from brachial to ulnar and radial, and from iliac and femoral to tibialis arteries were affected. Sural nerve biopsy confirmed the diagnosis. In the follow-up visits until 2 years after the patient’s discharge she did not develop any new problem and her blood pressure was controlled by enalapril and amlodipine.

Though brain hemiatrophy is not among the leading causes of symptomatic epilepsy; the problem remains important and is of great practical interest to neurologists and neurosurgeons in Russia. In this article; we present an example of successful surgical treatment of Dyke-Davidoff-Masson syndrome. Here; functional hemispherotomy was performed in a 22 years old female patient; as a result; the occurrence and intensity of epileptic seizures decreased. This clinical case provides hope for this procedure to show even better results if performed in early childhood.

Parry-Romberg syndrome (PRS) is characterized by hemiatrophy of facial structures, including skin, subcutaneous fat, muscle, bone, and cartilage. Complications associated with PRS include headaches, seizures, and chronic facial pain. Protocol for the treatment of chronic facial pain is not clear; reports on the use of botulinum toxin A injections for pain reduction in adults but not in the pediatric/adolescent population are available. Here, we discuss two pediatric PRS cases in which treatment with botulinum toxin A injections reduced or eliminated facial pain.

The basis of Central Research Institute of Dentistry and Maxillofacial Surgery in the period from 2015 to 2018 years there were 30 patients with primary hemiatrophy and patients with hemiatrophy after reconstructive operations who were examined and treated. The elimination of deformation of soft tissues was performed by combination of micro-, nano- and classical lipofilling in two stages with an interval of 6 months. To determine the deficit of tissue volume on the affected side before and at the treatment stages, a computer tomography was performed with the construction of the mathematical surface of the face. A study of the nature of the changes in the underlying structures in each group was carried out using ultrasound scanning and LDF studies. The use of non-invasive research methods allows us to track the dynamics of skin transformation. Based on the results of the treatment in the first and second groups, a combination of micro-, nano- and classical lipofilling did not only increase the volume and eliminate deformation, but also transform the quality of the skin. Thus, the combination of various lipofilling methods allowed to achieve a more stable result and increase the efficiency of treatment.

Brain atrophy is a condition associated with a reduction of brain volume. It is a common manifestation of aging even though it occurs in some childhood conditions and carried forward to pre-senile middle age. There are several causes of brain atrophy resulting in different patterns of brain volume loss which spans from focal, global, central, cortical, and hemiatrophy. These conditions are commonly associated with other neurodegenerative changes that lead to different dysfunctions. Neuroimaging is critical for the diagnosis, evaluation of lesions and quantification of the atrophy. However, radiological quantification of brain volume is done by both automated and manual methods to study brains basing a wide variation of cranial sizes and shapes. A multidisciplinary approach is the future of brain atrophy management. An extended scope of knowledge beyond image interpretation is inevitable.

Background There is no established pathogenesis of hemiparkinsonism-hemiatrophy syndrome (HPHA), and the varied clinical presentations have been reported in several case studies. To the best of our knowledge, the present report describes the first case of HPHA with unusual brain imaging findings. Case presentation A 20-year-old man presented with a 6-month history of weakness and clumsiness in his right limbs. He showed right-sided parkinsonism with dystonic hand posture; however, body asymmetry was not noted. Brain imaging revealed hemiatrophy of the left hemisphere subcortical structures and brainstem, and iron deposition in the left globus pallidus and substantia nigra. In addition, dopamine transporter imaging demonstrated normal presynaptic dopaminergic function. The patient was treated with levodopa, which had little to no effect. Conclusions This case demonstrates the unique imaging characteristics of HPHA associated with widespread brain hemiatrophy and iron deposition. Further studies are needed to elucidate the diagnostic criteria for this heterogeneous syndrome.

Highlights • Ten percentage of patient with RE has adult onset of symptoms. • Experience with IL-1Ra like anakinra in RE patients is limited. • 26 years after RE onset anakinra was introduced and led to complete seizure control. • Premature withdrawal of anakinra (2 months) caused relapse of seizures. • Our patient remains seizure free 13 months after 2nd course (7 months) of anakinra., Neuroinflammation has been considered an important pathophysiological process involved in epileptogenesis and may provide possibilities for new treatment possibilities. We present the case of a 45-year-old female with drug resistant epilepsy and progressive right-sided cerebral hemiatrophy associated with adult onset Rasmussen’s encephalitis. Over a period of 26 years, she was treated with 14 different antiseizure medications, intravenous immunoglobulins, glucocorticosteroids, underwent two operations with focal resection and subpial transections, and tried out trigeminal nerve stimulation. Extensive blood tests, including antibodies relevant for autoimmune encephalitis, and brain biopsy did not show any signs of neuroinflammation. Eventually, the patient received the interleukin-1 receptor antagonist, anakinra. Within 1–2 days after injection, seizure frequency decreased significantly, and, after one week, the seizures stopped completely. Anakinra treatment was continued for 2 months. Stopping medication led to a relapse of seizures after 2 weeks, with a frequency of up to 45 seizures per day. Reintroduction of anakinra led to rapid recovery. Treatment with anakinra was continued for 7 months. The treatment was discontinued in April 2020, and the patient has been completely seizure free since then. There have been no other changes in antiseizure medication.

Background: Parry-Romberg syndrome (PRS) is a rare disease that causes hemiatrophy of the face. The pathophysiological mechanisms involved in its etiology are unknown, but several previous reports suggest the involvement of autoimmune factors. Herein we describe the case of a patient with PRS who was initially misdiagnosed as having multiple sclerosis (MS). The relevant literature is briefly reviewed, and some previous reports suggesting associations between PRS and autoimmunity are discussed. Case Presentation: A 34-year-old man presented with recurrent paroxysmal weakness of the right hand, a 3-years history of unilateral tinnitus, and headache for 6 months. MS was initially diagnosed but the patient was subsequently diagnosed as having PRS on the basis of clinical manifestations and radiological findings. Conclusions: PRS may be associated with autoimmune pathogenesis, but the present case does not support that theory.

OBJECTIVE To characterize a cohort of children with epilepsia partialis continua (EPC) and develop a diagnostic algorithm incorporating key differential diagnoses. METHODS Children presenting with EPC to a tertiary pediatric neurology center between 2002 and 2019 were characterized. RESULTS Fifty-four children fulfilled EPC criteria. Median age at onset was 7 years (range 0.6-15), with median follow-up of 4.3 years (range 0.2-16). The diagnosis was Rasmussen encephalitis (RE) in 30 of 54 (56%), a mitochondrial disorder in 12 of 54 (22.2%), and magnetic resonance imaging (MRI) lesion-positive focal epilepsy in 6 of 54 (11.1%). No diagnosis was made in 5 of 54 (9%). Children with mitochondrial disorders developed EPC earlier; each additional year at presentation reduced the odds of a mitochondrial diagnosis by 26% (P = .02). Preceding developmental concerns (odds ratio [OR] 22, P

Hemiparkinsonism-hemiatrophy syndrome (HPHA) and hemidystonia-hemiatrophy syndrome (HDHA) are rare movement disorders composed of hemidystonia or hemiparkinsonism that present with unilateral limb, face, trunk, or cerebral hemiatrophy and mostly occur following head trauma or postanoxic events. However, relatively little is known about the pathogenesis of these conditions. In our case series, we present three HPHA patients and one HDHA patient who underwent detailed neuropsychological, radiological, motor, and non-motor functional assessments with a mean follow-up of 2 years. We followed two patients who showed differences in their progression for more than 2 years: one barely progressed with no treatment, and the other exhibited levodopa-induce dyskinesia (LID) and definitive progression while receiving multiple adjunctive therapies. In addition, we performed positron emission tomography (PET) with 18F-fluorodeoxyglucose (FDG) and 18F-dihydroxyphenylalanine (DOPA) in one HPHA patient who showed bilaterally symmetrical uptake of FDG with no significant increase or decrease in the cerebral hemispheres, including the striatum, but exhibited a significant reduction in the uptake of 18F-DOPA in the contralateral posterior striatum. In this study, we followed HPHA patients who showed different disease courses to explore the clinical characteristics and pathogenesis of HPHA and HDHA and illustrate the clinical heterogeneity of these diseases.

Hemispherectomy was primarily introduced for the treatment of malignant gliomas. Early experience with this procedure showed beneficial effects on seizures. Thus, already from the 1950s on, hemispherectomy has been recognized as a valuable tool for the surgical treatment of a subgroup of epileptic patients who show a diffuse pathology affecting one hemisphere which coincides with infantile hemiplegia. Hemispherical procedures have been improved over decades, all aiming at the best seizure control with the lowest morbidity. All techniques available follow common principles: disruption of the descending and ascending fibers through the corona radiata and internal capsule, removal of the mesial temporal structures, and callosotomy. Resective procedures include anatomical hemispherectomy and hemidecortication/hemicorticectomy. Disconnective strategies comprise transsylvian and vertical hemispherotomy. Combined resective/disconnective approaches include Rasmussen’s functional hemispherectomy and its modifications. Today, anatomical hemispherectomy and hemidecortication/hemicorticectomy have been largely abandoned. The transsylvian-transventricular key-hole approach is ideal for atrophic hemispheres and enlarged ventricles. Modified Rasmussen’s techniques are suitable for patients with atrophic, normal, and enlarged hemispheres. Vertical hemispherotomy constitutes a good alternative to combined resective and disconnective strategies that works well in almost all conditions. The value of resection of the insula is still unproven. It should be emphasized that the choice of the surgical approach within the limits given by different techniques and the patient’s situation depends to major parts on the individual training and experience of the surgeon. Systematic reviews and meta-analyses consistently demonstrate seizure-free (Engel I) outcome in around 70% of patients with best results achieved with acquired pathologies and Sturge–Weber syndrome mainly causing hemiatrophy, while seizure outcome with developmental pathologies, in particular hemimegalencephaly, is less favorable.

Cutis marmorata telangiectatica congenita is characterized by the presence of a bluish-purple reticulated cutaneous vascular network on the skin intermixed with telangiectasia and occasionally prominent veins at birth. Areas of the skin within the reticulated cutaneous vascular network may be normal, erythematous, atrophic, and, at times, ulcerated. Areas of ulcerations and focal cutaneous and subcutaneous atrophy occasionally occur resulting in body asymmetry. On the other hand, cutaneous and subcutaneous atrophy, extensive and severe enough leading to hemiatrophy, of the entire limb is rare. A search of the English literature revealed only eight documented cases to which we are adding two more cases.

Hypoglossal nerve palsy (HNP) is a common finding in neurologic diseases when associated with other cranial nerve palsies or further pathology and exhibits characteristic clinical manifestations, including unilateral atrophy of the musculature of the tongue. It occasionally appears as the initial or solitary sign of an intracranial or extracranial space-occupying lesion, head or neck injury, or vascular abnormality of the internal carotid artery. There are few cases of idiopathic isolated unilateral HNP, which should be diagnosed through exclusion. This report describes 2 patients who had different outcomes and presents a literature review of idiopathic isolated unilateral HNP. Case 1 was a 71-year-old man who was referred with a 1-month history of dysphagia and speech impairment. Intraoral examination disclosed marked left-side hemiatrophy of the tongue and deviation toward the left on protrusion. At coronal Tl-weighted magnetic resonance imaging, left-side hemiatrophy of the tongue was clearly visible through deviation of the median septum to the left. The patient was diagnosed with idiopathic isolated unilateral HNP through exclusion and was treated with steroids and mecobalamin, but he did not recover. Case 2 was a 32-year-old man complaining of tongue weakness for 2 days. On examination, left HNP was evident, with deviation of the tongue to the left on protrusion. He was diagnosed with idiopathic isolated unilateral HNP through exclusion and was treated with steroids. After 3 weeks, the patient had completely recovered. To the best of the authors' knowledge, this is the first detailed literature review on idiopathic isolated unilateral HNP. This condition is very rare but should be considered for diagnosis. It warrants a thorough and stepwise approach for etiologic diagnosis.

Dyke Davidoff- Masson syndrome is a rare disorder of hemiatrophy of the cerebral hemisphere and clinically manifests as hemiparesis, seizures disorder, mental retardation and facial asymmetry and has various perinatal or post natal etiologies and has characteristic radiological appearance on brain imaging. It is important to recognize the clinical and radiological features of this condition for the neurologists as well as the radiologists. We are discussing our case as this patient presented very late although his symptoms seem to present since his birth which is very unusual with this disorder.

Rationale: Dyke-Davidoff-Masson syndrome (DDMS) is a rare syndrome commonly occurring in children and characterized by cerebral hemiatrophy, hypertrophy of the skull, epilepsy, and mental retardation.[1,2] However, few have been reported in China, especially in teenagers. This case investigated its possible cause and explored a relative effective solution. Patient concerns: A 24-year-old female came to department having experienced recurrent seizures for 12 years. Diagnosis: DDMS was diagnosed from its manifestations, biochemistry indexes, and imaging (computed tomography angiography, magnetic resonance venography, and so on). Interventions: Several drugs are used to treat the disease, including valproate, carbamazepine, topiramate, and ginkgo biloba extract. Outcomes: Under the medicine treatment of magnesium valproate with carbamazepine, the patient experienced partial seizures approximately once per month that lasted 30 to 60 seconds each without any complications observed during a follow-up period of 24 months. Conclusion: The imaging and clinical features of DDMS in this teenager were similar to those in classic infantile-onset cases. A potential cause of the disease could be brain trauma, which impaired the middle cerebral artery and reduced cerebral blood supply, leading to epilepsy and hemiatrophy. Lessons: It was concluded early diagnosis and pharmacotherapy are the keys to preventing intellectual decline in DDMS patients. Moreover, the combination of magnesium valproate and carbamazepine could significantly reduce the frequency and duration of seizures, despite not eliminating them completely.

Incontinentia pigmenti (IP) is a rare X-linked multisystem disease caused because of mutation in the IKBKG (inhibitor of kappa-B kinase gamma, previously NEMO) gene. Involvement of central nervous system is seen in approximately one-third of these patients. Ischemic strokes, symptomatic seizures, and encephalopathy can be seen during neonatal or early infancy age group. Typically, early bilateral brain involvement is seen with periventricular white matter injury, hemorrhagic infarction, and multifocal cortical injury. We reported a patient who did not have early encephalopathic presentation, but presented with right hemiparesis and intellectual impairment. Magnetic resonance imaging of the brain revealed extensive left cerebral white matter volume loss and encephalomalacia with Wallerian degeneration of the left cortical spinal tract. This case highlights a rare presentation of unilateral cerebral atrophy with no definite episode of acute encephalopathy during infancy to suggest pure intrauterine injury. Microvascular occlusion, inflammatory cerebral vasculopathy, and recurrent silent strokes possibly produced this extensive neurologic manifestation antenatally. We also reviewed the complex pathogenic mechanisms involved in IP.

BACKGROUND: Hemi masticatory spasm (HMS) is a rare movement disorder affecting muscles of mastication attributed to dysfunction of motor branch of trigeminal nerve and is characterized by painful spasm of masticatory muscles. Microvascular compression leading to focal demyelination of motor branch of trigeminal nerve is the most speculated on mechanism of HMS. Treatment options range from medical to surgical approaches, but botulinm toxin (BTX) has now become the preferred treatment. CASES: We report a retrospective review of 7 cases of HMS, supported by electrophysiological and clinical findings. All the cases had excellent response to BTX therapy. DISCUSSION AND CONCLUSION: In this article, we highlight the delay in diagnosis of HMS attributed to rarity, long course of illness, association with hemiatrophy, “Lichen Sclerosus et Atrophicus,” and scleroderma/morphea. Considering the favorable outcome to BTXs, surgical treatment can be avoided or delayed in majority except secondary cases.

ObjectiveTo determine the temporal evolution, morphology, and frequency of macular ganglion cell atrophy in patients with retrochiasmal lesions of the visual pathway.MethodsIn a consecutive retrospective case series, we identified 47 patients with homonymous hemianopia and accessible macular optical coherence tomography scans. We estimated the time of lesion onset and the location of the lesion within the afferent visual pathway. Using semiautomatic layer segmentation, we determined ganglion cell layer thickness in areas projecting to the side of the retrochiasmal lesion and compared it with ganglion cell layer thickness on the healthy side.ResultsWe found that retrochiasmal lesions at any level may be associated with an atrophy of ganglion cells. This atrophy respects the vertical midline through the fovea and thus the anatomic separation of the nasal and temporal visual field. The vertical line separating the affected from the unaffected side has significantly less tilt as compared with the disc–fovea angle. Lesions of the optic tract are associated with earlier macular ganglion cell atrophy than retrogeniculate lesions. Macular ganglion cell atrophy may be present in cases with normal peripapillary nerve fiber layer analysis and vice versa.ConclusionsMacular ganglion cell layer thickness shows a topographic hemiatrophy in retrochiasmal lesions, which manifests earlier for tract lesions than for retrogeniculate lesions. This additional examination of ganglion cell homonymous hemiatrophy has a higher sensitivity in detecting retrograde transsynaptic degeneration than the analysis of the peripapillary nerve fiber layer alone.

Dyke-Davidoff-Masson syndrome (DMMS) is a non-inherited rare condition with a clinical constellation of hemiparesis/hemiplegia, facial asymmetry, intellectual disability, and epilepsy. The radiological features can be including unilateral cerebral atrophy, calvarial thickening, and hyper pneumatization of the paranasal sinuses. The condition can either be congenital or acquired. The presentation usually occurs during childhood or early adolescents, but there have been adult cases reported. Here we report a 48-year-old male who was a known poorly controlled epileptic that contracted SARS-CoV-2 with subsequently developed status epilepticus and, when worked up, was shown to have features of DDMS. This case is unique as the patient had hemiatrophy and epilepsy but managed to lead a normal, physically demanding, and high functioning academic career and presented late in life. Perhaps only due to coronavirus disease 2019 (COVID-19) was this diagnosis picked up. This report contains a case presenting atypical DDMS in status epilepticus and COVID -19 plus other complications. From our knowledge, this is the first case presenting these comorbidities reported to the medical literature.

Dyke–Davidoff–Masson syndrome (DDMS) is an uncommon congenital/pediatric disorder diagnosed only with the help of imaging. Clinical features associated with it are hemiparesis, seizures, facial asymmetry, and mental retardation. We here present a case of DDMS diagnosed antenatally at 29 weeks gestational age during routine antenatal ultrasound examination. The patient was further evaluated and followed using both ultrasound and magnetic resonance imaging during antenatal and postnatal periods. The infant had unilateral hemiatrophy with the absence of anterior and middle cerebral arteries. We hereby also want to coin the term “shifted falx sign” as a diagnostic indicator for DDMS for the first time. To our knowledge, this is the earliest antenatally sonologically diagnosed case of the said pathology.

It is difficult to diagnosis early stage germ cell tumors originating in the basal ganglia, but early recognition is important for better outcome. To evaluate serial MR images of basal ganglia germ cell tumors, with emphasis on the features of early stage tumors. We retrospectively reviewed serial MR images of 15 tumors in 14 children and young adults. We categorized MR images of the tumors as follows: type I, ill-defined patchy lesions (

Removal of an eye may be indicated in cases of congenital abnormality, severe trauma, or disease such as an infection, tumor, or malignancy. The disfigurement associated with a loss of an eye is often accompanied with physical problems, psychological trauma, and a poor quality of life. A prosthetic replacement is the treatment of choice to return the individual to his normal vocation by producing an acceptable and life-like appearance. This article describes prosthetic rehabilitation of a 19-year-old male suffering from facial hemiatrophy with the loss of his left eye due to retinoblastoma when he was 2-year-old using medically graded silicone material. The technique used is simple, cost effective, and easy way for fabrication and rehabilitation of an orbital defect using silicone prosthesis where retention is achieved by a combination of silicone adhesives and tapes, and to a very small extent by bony and soft tissue undercut, hence providing better esthetic and psychological outcome. The acrylic part of the prosthesis was adhered to the socket with the help of a two-way silicon adhesive tape. Since the patient had lost his eye when he was 2-year-old, the development of eye and periorbital tissue on the defect side lead to hemiatrophy; in our approach, we have attempted to build the prosthesis in par with the normal side so that the fullness on the defect side was restored to that of the contralateral side. The fabricated facial prosthesis was durable, esthetic, and had good retention.

Patients with tongue hemiatrophy and/or hypoglossal nerve palsy are rarely encountered in clinical dental practice. Here we report our case of a 69-year-old woman with a 5-year history of hemiatrophy of the tongue presenting with hypoglossal nerve palsy. Following examination by the dentists and neurologists, she was found to have a left hypoglossal tumor and was diagnosed as having hypoglossal schwannoma. In view of the indolent nature of the tumor, a neurosurgical approach was not considered necessary unless the tumor became larger and/or symptomatic. Some patients may consider these symptoms serious in the early stages, but these tumors are slow growing and have a benign nature. However, the possible oral manifestations of this neurologic disorder and rare nature of this condition should be kept in mind during routine examination.

Dyke-Davidoff-Masson syndrome (DDMS) was first described in 1933 as a clinical condition characterized by hemiatrophy, hyperpneumatization of paranasal sinuses, contralateral hemiparesis, facial asymmetry, seizures, and mental retardation.1 DDMS can be of 2 types: congenital and acquired. The congenital type can be caused by various conditions experienced during fetal or early childhood development, including ischemia, infarction, trauma, infections, and hemorrhage. The acquired type is mostly associated with hemorrhage, trauma, and infections experienced after 1 month of age. DDMS can manifest alone or can be accompanied by crossed cerebellar atrophy (CCA) which is a newly discovered radiological marker characterized by prominent cortical sulci and loss of cerebellar parenchyma. The congenital type of DDMS is known to be accompanied by ipsilateral cerebellar atrophy and the acquired type is known to be accompanied by contralateral cerebellar atrophy.2,3 Supratentorial events may lead to destruction in the cortico-ponto-cerebellar pathways, mostly in the contralateral side of the body (80%) due to decussation.4 In this report, we present 2 cases of DDMS accompanied by CCA to emphasize the possibility that the DDMS cases with severe intrauterine hemorrhage can be accompanied by contralateral CCA and migratory abnormalities rather than ipsilateral CCA and clinical survey.

Dyke-Davidoff-Masson Syndrome (DDMS) is a rare condition usually diagnosed in paediatric patients with clinical features of hemiparesis, seizures, mental retardation and contralateral cerebral hemiatrophy on neuroimaging. This report follows the case of a 22-year-old man presenting with seizures and hemiatrophy and hemiparesis. On review of cases the most common neuroimaging findings were cerebral hemiatrophy (100%) followed by hemicalvarial thickening (71.4%) and hyperpneumatisation of sinuses (71.4%). Apart from our patient, all nine cases with data on epilepsy control had drug-resistant epilepsy. The onset of seizures in adulthood, block vertebra, short stature, absence of mental retardation and well-controlled epilepsy on monotherapy makes our case exceptional-even bringing to mind the possibility of a DDMS variant. This report exhaustively reviews the wide range of clinical and radiological manifestations of DDMS in the adult, thereby adding to the literature on an unusual syndrome that causes significant neurological morbidity.

Purpose: Cerebral hemiatrophy is a common childhood disease. It clinically manifests with seizures, hemiparesis and mental retardation. Materials and Methods: In this prospective study, previously untreated patients with seizures and cerebral hemiatrophy were recruited. Cerebral hemiatrophy was diagnosed on the basis of hemispheric ratio. Patients with acquired hemiconvulsion, hemiplegia, and epilepsy (HHE) syndrome were included in group A. Group B included patients with congenital HHE syndrome. Patients were followed up for 6 months for seizure recurrence. Results: Out of 42 patients 26 were in group A and 16 were in group B. After 6 months, there was significant reduction in seizure frequency (P < 0.0001) in both the groups. At least 50% reduction in seizure frequency was noted in all the patients. Complete seizure freedom was observed in 15 (35.7%) patients. Seizure recurrences were significantly higher (P = 0.008) in group A. On univariate analysis, predictors of seizure recurrences were history of febrile seizures (P = 0.013), hippocampal sclerosis (P = 0.001), thalamic atrophy (P = 0.001), basal ganglia atrophy (P = 0.001), cerebellar atrophy (P = 0.01), ventricular dilatation (P = 0.001), epileptiform discharges at presentation (P = 0.023), complex partial seizures (P = 0.006) and status epilepticus (P = 0.02). On multivariate analysis, hemispheric ratio was the only significant factor for seizure recurrence. Conclusion: Patients with congenital hemiatrophy had better seizure control than that in patients with HHE syndrome.

Dyke-Davidoff-Masson syndrome (DDMS) is a rare clinical condition characterized by seizures, facial asymmetry, contralateral spastic hemiplegia or hemiparesis, with learning difficulties. It is also called as cerebral hemiatrophy. It is commonly diagnosed in the presence of associated radiologic findings which include cerebral hemiatrophy with homolateral hypertrophy of the skull and sinuses. Here, we report a case of DDMS in a 25-year-old male patient who presented with seizures and mental retardation. Computed tomography of the brain showed hemiatrophy involving the left cerebral hemisphere.

Haberland syndrome, also known as encephalocraniocutaneous lipomatosis, is a rare, congenital neurocutaneous disorder. It is characterized by unilateral central nervous system, cutaneous, and ocular anomalies. We report here a case of 28-year-old female presented with history of intermittent episodes of generalized tonic–clonic type convulsions for 3 years, soft lipomatous swelling over the right temporal area with nonscarring alopecia of the part of frontal and parietal region, and ipsilateral scleral dermoid. Computed tomography findings were lipomas and calcification of falx. Magnetic resonance imaging showed right-sided hemiatrophy, two intracranial cysts, and enlargement of the right lateral ventricle. We report this case because of its rarity.

Parry-Romberg syndrome (PRS) is an uncommon disorder characterized by progressive hemiatrophy of the skin and soft tissue of the face. It can also involve atrophy of deeper structures, such as muscles, cartilage, and bones1. Intraoral involvement may occur with hemiatrophy of the mandible, teeth, and tongue2. We describe striking mucosal involvement of the tongue …

Context: Clinicoradiological variability expansion in Dyke-Davidoff-Masson syndrome (DDMS) or hemiplegia, hemiatrophy and epilepsy (HHE) patients. Aims: To explore clinicoradiological features, associated abnormalities and refractoriness issues to antiepileptic drugs (AED) on such kind of epilepsy syndrome. Settings and Design: Prospective and retrospective observational hospital based cohort study. Materials and Methods: Thirty-two patients of HHE were enrolled and interviewed. They were divided into 4 groups congenital versus acquired and seizure control group (SCG) versus seizure refractory group (SRG). We used Naranjo adverse drug reaction (ADR) probability scale for analyzed phenytoin and other drugs adverse reaction. All patients underwent clinicoradiological examination, electroencephalograms, magnetic resonance imaging for parenchymal and skeletal changes. Statistical Analysis Used: Fisher's exact and Student's t-test applied for P value. Results: A total of 32 patients (21 males, 11 females) out of 1182 epilepsy patients were enrolled with mean age of 26.84 ± 9.71 (range: 8-42) years. Twenty-eight patients presented with DDMS, three Rasmussen encephalitis and two HHE syndromes. Congenital type and seizure refractory groups were common presentation. Left lateralization with holo-hemispheric atrophy, cerebellar atrophy, calvarial thickening with frontal sinus hyperpneumatization were significant (P < 0.05) magnetic resonance imaging (MRI) findings. Epileptiform activity was concordant to lesion. Phenytoin adverse effects were significantly (P < 0.03) associated with HHE patients. Remarkable findings of our study included cerebral hemispheric plus cerebellar atrophy (28.12%), hippocampal sclerosis (16%), dystonia, hemiparkinsonism, mirror movement and Dandy-Walker syndrome (DWS). Conclusions: DDMS/HHE can present protean clinicoradiological manifestation, cerebellar atrophy, hippocampal sclerosis and phenytoin intolerance may be one of them.