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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., (© 2024 Japanese Society of Neuropathology.)

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.

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., (Copyright © 2020 He, Zhang, Li, Li, Huang, Wang and Zhang.)

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., (© Association of Otolaryngologists of India 2016.)

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 (group 1) and patients with hemiatrophy after reconstructive operations (group 2) who were examined and treated. The elimination of deformation of soft tissues was performed by combination of micro-, nano- and classical lipofilling in two sessions 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 2 groups, a combination of micro-, nano- and classical lipofilling did not only increase the volume and eliminate deformation soft tissue, 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.

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.

Competing Interests: The authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Dyke-Davidoff-Masson syndrome is a rare entity characterized by hemi cerebral atrophy/hypoplasia secondary to brain insult in fetal or early childhood period along with ipsilateral compensatory osseous hypertrophy and contralateral hemiparesis. We present two cases of this uncommon condition and discuss its imaging features, differential diagnosis, treatment options and prognosis.

We present a case of hemihypoplasia of the striatum with ipsilateral cerebral hemispheric atrophy. The head of the caudate nucleus and putamen were hypoplastic, and gray matter cell bridges between them located in the anterior limb of the internal capsule were sparse. Cerebral atrophy was accompanied by ipsilateral mesial temporal sclerosis without thalamic atrophy. The anterior limb of the internal capsule showed no signal abnormalities or volume loss. These imaging findings and the hyperintensity at the fundus striati suggest an early embryonic insult of lateral striatal elevation., (Copyright © 2014 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.)

A fundamental question in developmental biology is how a chimeric animal such as a bilateral gynandromorphic animal can have different phenotypes confined to different lateral body halves, and how mutation-induced phenotypes, such as genetic diseases, can be confined to one lateral body half in patients. Here, I propose that embryos of many, if not all, bilaterian animals are divided into left and right halves at a very early stage (which may vary among different types of animals), after which the descendants of the left-sided and right-sided cells will almost exclusively remain on their original sides, respectively, throughout the remaining development. This embryonic left-right separation mechanism allows (1) mutations and the mutation-induced phenotypes to be strictly confined to one lateral body half in animals and humans; (2) mothers with bilateral hereditary primary breast cancer to transmit their disease to their offspring at twofold of the rate compared to mothers with unilateral hereditary breast cancer; and (3) a mosaic embryo carrying genetic or epigenetic mutations to develop into either an individual with the mutation-induced phenotype confined unilaterally, or a pair of twins displaying complete, partial, or mirror-image discordance for the phenotype. Further, this left-right separation mechanism predicts that the two lateral halves of a patient carrying a unilateral genetic disease can each serve as a case and an internal control, respectively, for genetic and epigenetic comparative studies to identify the disease causations., (© 2013 Wiley Periodicals, Inc.)