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The first postmortem neuropathological findings of a hemiparkinsonism and hemiatrophy (HPHA) patient are presented. A 50‐year‐old man developed resting tremors affecting the right hand and leg, followed by mild clumsiness of the right hand. On examination, he exhibited muscle atrophy of the right leg extremity, accompanied by right‐sided parkinsonism. Brain magnetic resonance imaging was normal. Based on the clinical and radiological findings, HPHA syndrome was diagnosed, showing a good response to L‐DOPA. He gradually developed muscular atrophy of the right distal upper extremity. Thirteen years after the onset of the disease, left‐sided parkinsonism appeared. The patient died of Trousseau's syndrome associated with a rapidly emerging pancreatic tumor. The total duration of the disease was 14 years. Neuropathologically, the substantia nigra showed markedly left‐predominant neuronal loss, along with almost symmetrical Lewy body (LB) pathology. These findings indicated that the patient originally had fewer neurons in the left substantia nigra than in the right, probably caused by congenital or childhood cerebral injury, followed by the development of unilateral parkinsonism due to the progression of LB pathology. Despite our extensive neuropathological analysis, we could not specify the etiology or anatomical substrate responsible for the development of right upper and lower extremity atrophy. Further clinicopathological studies are needed to elucidate the pathoanatomical areas causing hemiparkinsonism and hemiatrophy. [ABSTRACT FROM AUTHOR]

Abstract 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.

Abstract 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.

Pediatric cerebral hemiatrophy is a rare entity with widespread etiology. Imaging in form of computed tomography and magnetic resonance imaging is helpful in differentiating between the etiologies of hemiatrophy. We describe imaging findings in three different cases of hemiatrophy due to Sturge-Weber syndrome, Dyke-Davidoff-Masson syndrome, and Rasmussen encephalitis.

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. [ABSTRACT FROM AUTHOR]

Pediatric cerebral hemiatrophy is a rare entity with widespread etiology. Imaging in form of computed tomography and magnetic resonance imaging is helpful in differentiating between the etiologies of hemiatrophy. We describe imaging findings in three different cases of hemiatrophy due to Sturge-Weber syndrome, Dyke-Davidoff-Masson syndrome, and Rasmussen encephalitis. [ABSTRACT FROM AUTHOR]

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: 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. [ABSTRACT FROM AUTHOR]

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.

Our objective is to report a female carrier of Duchenne muscular dystrophy (DMD) presented with remarkable asymmetric limb weakness and atrophy caused by a heterozygous point mutation in DMD gene. The patient was born in a non-consanguineous marriage. She experienced slowly progressive weakness and atrophy of her right limbs for approximately 20 years. The thigh muscle magnetic resonance imaging (MRI) showed obvious atrophy with fatty replacement on the right thigh compared with the left, and the ‘trefoil with single fruit sign’ was observed. Muscle pathology revealed decreased dystrophin protein expression in scattered fibers. The multiplex ligation-dependent probe analysis (MLPA) analysis did not detect any large rearrangements. Subsequent whole exome sequencing (WES) identified a heterozygous nonsense mutation, c.1471C>T (p. Q491* ) of dystrophin (DMD) gene in the patient. This report highlights that marked hemiatrophy can occur in a female manifesting carriers of DMD and WES should be considered in MLPA-negative patients. Muscle MRI can serve as an adjunct to diagnose dystrophinopathies. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Linear scleroderma is a variant of localized scleroderma. We report a 43‐year‐old woman who had developed left arm weakness and linear scleroderma on her back during pregnancy at 25 years of age, followed by left hemifacial atrophy and left leg weakness. She had multiple linear scleroderma lesions on her trunk and left limbs, left eyelid ptosis, impairment of vertical movement and abduction of the left eye, left hemifacial atrophy, and weakness and atrophy of the sternocleidomastoid, trapezius, and proximal limb muscles on the left side. On serology, antibodies to U1‐ribonucleoprotein and Jo‐1 were positive; anti‐scleroderma‐70 antibody was negative. Skin biopsy demonstrated increased hypertrophic collagen fibers without inflammatory infiltrates. Needle electromyography of left limb muscles revealed mild neurogenic patterns; left quadriceps muscle biopsy showed chronic neurogenic changes. Brain magnetic resonance imaging revealed mild left hemispheric atrophy. This is a rare case of linear scleroderma and Parry–Romberg syndrome presenting with widespread ipsilateral neurogenic manifestations. [ABSTRACT FROM AUTHOR]

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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.

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. View Supplementary Video 1 [ABSTRACT FROM AUTHOR]

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.

Introduction: Hemiatrophy of the brain is the radiological finding, in the patients with seizure and/ or mental retardation and hemiparesis, usually due to insult to developing brain in fetal and early childhood. Other imaging feature is the compensatory osseous hyperplasia. This condition, also known as Dyke-Davidoff-Masson Syndrome is a rare entity and we report two such cases. JSSN 2015; 18 (1), Page: 26-28

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.

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. [ABSTRACT FROM AUTHOR]

Despite various neurologic symptoms of Poland syndrome (PS), parkinsonism was never reported in PS, and the response to the treatment of parkinsonism was not studied before. We report a case of ipsilateral parkinsonism in PS, similar to hemiatrophy-hemiparkinsonism, with a good response to levodopa and subthalamic deep brain stimulation. [ABSTRACT FROM AUTHOR]

Parry Romberg syndrome is a rare condition with unknown etiopathogenesis characterized by unilateral hemiatrophy of face leading to cosmetic disability which may be complicated by neurological features such as epilepsy, headache, trigeminal neuralgia etc. Management comprises of reconstructive surgery and symptomatic treatment. Prognosis is variable, it may progress to involve entire face with neck or it may stop in progression to some extent. [ABSTRACT FROM AUTHOR]

• Rasmussen's encephalitis may present with progressive cortical deficits like apraxia. • In adult-onset cases, seizures may not occur in RE unlike the pediatric population. • RE should be considered when progressive hemiatrophy dominates the clinical picture. [ABSTRACT FROM AUTHOR]

Morphea is a variant of localized scleroderma in which lesions are usually limited to the skin and subcutaneous tissue. Pansclerotic morphea is a rare atrophying and sclerosing type of morphea. It can follow a comparatively benign course with spontaneous resolution of symptoms, or sometimes can lead to a variety of complications resulting in progressive disability. We report a case of Pansclerotic morphea in an 8-year-old male child involving one lower extremity with extension to the lower trunk. It was associated with deformity and hemiatrophy of that limb, leading to restriction of normal day-to-day activity. The case is being reported in view of its rare occurrence in conjunction with other rarer features.

Unilateral destructive brain lesions of early development can result in compensatory thickening of the ipsilateral cranial vault. The aim of this study was to determine the frequency of these bone changes among patients with epilepsy and precocious destructive lesions, and whether a relationship exists between these changes and epileptiform discharges lateralization. Fifty-one patients had their ictal / interictal scalp EEG and skull thickness symmetry on MRI analyzed. Patients were divided into three main groups according to the topographic distribution of the lesion on the MRI: hemispheric (H) (n=9); main arterial territory (AT) (n=25); arterial borderzone (Bdz) (n=17). The EEG background activity was abnormal in 26 patients and were more frequent among patients of group H (p= 0.044). Thickening of the skull was more frequent among patients of group H (p= 0.004). Five patients (9.8%) showed discordant lateralization between epileptiform discharges and structural lesion (four of them with an abnormal background, and only two of them with skull changes). In one of these patients, ictal SPECT provided strong evidence for scalp EEG false lateralization. The findings suggest that compensatory skull thickening in patients with precocious destructive brain insults are more frequent among patients with unilateral and large lesions. However, EEG lateralization discordance among these patients seems to be more related to EEG background abnormalities and extent of cerebral damage than to skull changes.

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. [ABSTRACT FROM AUTHOR]

Dyke-Davidoff-Masson Syndrome (DDMS) is characterized by seizures, facial asymmetry, contralateral hemiplegia and mental retardation. The characteristic radiologic features are cerebral hemiatrophy with homolateral hypertrophy of the skull and sinuses. Here we report a case of a 16 years young girl who presented with seizures severe mental retardation and weakness of left upper-limb and on CT brain was diagnosed to have DDMS. DOI: http://dx.doi.org/10.3126/jonmc.v1i2.7306 Journal of Nobel Medical College (2012), Vol.1 No.2 p.84-86

Dyke-Davidoff-Masson Syndrome (DDMS) is characterized by Seizures, facial asymmetry, contralateral hemiplegia and Mental Retardation. Characteristic Radiological features are Cerebral hemiatrophy with homolateral hypertrophy of skull and sinuses? We report a Case of DDMS in a 21yr old male who presented with Generalised Tonic Clonic Seizures, Hemiparesis of the left hand and leg with deformity of the left upper limb and left lower limb and also deviation of the mouth to left.