BACKGROUND AND PURPOSE: Midbrain atrophy is a characteristic feature of progressive supranuclear palsy (PSP), although it is unclear whether it is associated with the PSP syndrome (PSPS) or PSP pathology. The aim of the present study was to determine whether midbrain atrophy is a useful biomarker of PSP pathology, or ...

MECP2 triplication syndrome is a rare and usually lethal genetic disorder characterized by progressive neurologic and cognitive regression. None of the four reported cases describe prenatal sonographic features of affected offspring. We report a second-trimester fetus with marked prefrontal and prenasal skin thickening, retrognathia, and later, third-trimester mild cerebral ventriculomegaly. ...

Although Mayer-Rokitansky-Küster-Hauser syndrome is a rare condition with a reported incidence of 1/4500 female live births, it represents the second most common cause of primary amenorrhea and has psychologically devastating consequences. The radiologist plays a pivotal role in both making the accurate initial diagnosis of this condition and assessing findings ...

BACKGROUND AND PURPOSE:X-linked α-thalassemia/mental retardation syndrome (Mendelian Inheritance in Man, 301040) is one of the X-linked intellectual disability syndromes caused by mutations of the ATRX gene and characterized by male predominance, central hypotonic facies, severe cognitive dysfunction, hemoglobin H disease (α-thalassemia), genital and skeletal abnormalities, and autistic and peculiar behavior. ...

BACKGROUND: The Dandy-Walker malformation (DWM) is one of the commonest congenital cerebellar defects, and can be associated with multiple congenital anomalies and chromosomal syndromes. The occurrence of overlapping 3q deletions including the ZIC1 and ZIC4 genes in few patients, along with data from mouse models, have implicated both genes in ...

Prenatal ultrasonographic detection of unilateral cerebral ventriculomegaly arises suspicion of pathological condition related to cerebrospinal fluid flow obstruction or cerebral parenchimal pathology. Dyke-Davidoff-Masson syndrome is a rare condition characterized by cerebral hemiatrophy, calvarial thickening, skull and facial asymmetry, contralateral hemiparesis, cognitive impairment and seizures. Congenital and acquired types are recognized ...

In a patient with a lesion of the right amygdala and temporal pole who had the characteristics of the gourmand syndrome, sensory and hedonic testing was performed to examine the processing of taste, olfactory, and some emotional stimuli. The gourmand syndrome describes a preoccupation with food and a preference for ...

Approximately 40% of males with the fragile X premutation develop fragile X-associated tremor/ataxia syndrome after age 50. Although the thalamus and basal ganglia play a crucial role in movement disorders, their involvement in fragile X premutation carriers has not been systematically investigated. The current study characterized structural abnormalities associated with ...

A 23-year-old woman presented to our hospital with 9 months history of progressive ataxia, visual loss since childhood due to retinitis pigmentosa and primary amenorrhea. On examination, there were also sparse scalp hair, very long and curled upwards eyelashes and short stature. Oliver-McFarlane syndrome was suspected. Brain MRI disclosed cerebellar ...

Purpose:To provide proof of concept for a diagnostic method to assess diffuse coronary artery disease (CAD) on the basis of coronary computed tomography (CT) angiography.Materials and Methods:The study was approved by the Cleveland Clinic Institutional Review Board, and all subjects gave informed consent. Morphometric data from the epicardial coronary artery ...

Children with chromosome 22q11.2 Deletion Syndrome (22q11.2DS), Fragile X Syndrome (FXS), or Turner Syndrome (TS) are considered to belong to distinct genetic groups, as each disorder is caused by separate genetic alterations. Even so, they have similar cognitive and behavioral dysfunctions, particularly in visuospatial and numerical abilities. To assess evidence ...

The megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) and megalencephaly-capillary malformation (MCAP) syndromes are highly recognizable and partly overlapping disorders of brain overgrowth (megalencephaly). Both syndromes are characterized by congenital or early postnatal megalencephaly, with a high risk for progressive ventriculomegaly leading to hydrocephalus and cerebellar tonsillar ectopia leading to Chiari malformation, and cortical brain ...

We describe a form of the autoimmune/autoinflammatory syndrome induced by adjuvants (ASIA syndrome) in commercial sheep, linked to the repetitive inoculation of aluminum-containing adjuvants through vaccination. The syndrome shows an acute phase that affects less than 0.5 % of animals in a given herd, it appears 2-6 days after an adjuvant-containing ...

Leukoencephalopathy is a syndrome of neurologic deficits, including alteration of mental status, caused by pathologic changes in the cerebral white matter. The term, toxic leukoencephalopathy, encompasses a wide variety of exposures and clinical presentations. The diagnosis in these Frontiers in Clinical Neurotoxicology syndromes is made by careful attention to the ...

Posterior fossa syndrome (PFS) due to vascular etiology is rare in children and adults. To the best of our knowledge, PFS due to cerebellar stroke has only been reported in patients who also underwent surgical treatment of the underlying vascular cause. We report longitudinal clinical, neurocognitive and neuroradiological findings in ...

Shapiro syndrome is a rare entity, comprising a triad of recurrent hypothermia, hyperhidrosis and congenital agenesis of the corpus callosum. Fewer than 50 cases have been described, almost invariably in patients presenting in childhood or early adulthood. We present a case of an 80year old woman presenting with recurrent bouts ...

Hypereosinophilic syndrome is characterized by unexplained hypereosinophilia involving different organ systems. The investigators present a patient diagnosed with hypereosinophilic syndrome in which cardiac magnetic resonance was pivotal in establishing the presence of cardiac involvement.

An array-CGH on 19-year-old male showed a proximal 1.11 Mb duplication and a distal 1.7 Mb deletion of 22q11.2 regions flanking the Velocardiofacial/DiGeorge syndrome region that remained intact. FISH analyses revealed both abnormalities to be on the same homolog 22. This double rearrangement lead to the co-existence of two syndromes: Cat eye ...

Accumulating data suggest that bone plays a role in energy metabolism through decarboxylation of osteocalcin. Thus, we aimed to study the association of circulating under--carboxylated osteocalcin (UC-OCN) and car-boxylated osteocalcin (C-OCN) with metabolic syndrome in middle aged Asian population.In this cross-sectional study, 131 middle aged Asian subjects were recruited. Circulating ...

Although in literature almost 150 patients with Lance-Adams Syndrome (LAS) have been reported, neuroradiological evaluations were often performed in late stages and there is no serial study evaluating LAS from early stages. We herein report a serial neuroimaging study demonstrating early and transient involvement of cerebellum and thalami in a ...

The 2p15-p16.1 microdeletion syndrome is a novel, rare disorder characterized by developmental delay, intellectual disability, microcephaly, growth retardation, facial abnormalities, and other medical problems. We report here on an 11-year-old female showing clinical features consistent with the syndrome and carrying a de novo 0.45 Mb long deletion of the paternally derived ...

Osmotic demyelination syndrome (ODS) is a recognized complication of rapid correction of hyponatremia. However, other medical conditions have been associated recently with the development of ODS in the absence of changes in serum sodium. We present a 23-year-old man who developed left hemiparesis and encephalopathy after treatment of hyperglycemia. MRI ...

OBJECTIVEActivating mutations in the KCNJ11 gene, encoding the Kir6.2 subunit of the KATP channel, result in permanent neonatal diabetes mellitus. They also may cause neurologic symptoms such as mental retardation and motor problems (iDEND syndrome) and epilepsy (DEND syndrome). Sulphonylurea (SU) treatment is reported to alleviate both the neurologic symptoms ...

BACKGROUND: Graph theory has been recently introduced to characterize complex brain networks, making it highly suitable to investigate altered connectivity in neurologic disorders. A current model proposes autism spectrum disorder (ASD) as a developmental disconnection syndrome, supported by converging evidence in both non-syndromic and syndromic ASD. However, the effects of ...

"Eight-and-a-half" syndrome is "one-and-a-half" syndrome (conjugated horizontal gaze palsy and internuclear ophthalmoplegia) plus ipsilateral fascicular cranial nerve seventh palsy. This rare condition, particularly when isolated, is caused by circumscribed lesions of the pontine tegmentum involving the abducens nucleus, the ipsilateral medial longitudinal fasciculus, and the adjacent facial colliculus. Its recognition ...

Neuropsychiatric syndromes are highly prevalent in Alzheimer's disease (AD), but their neurobiology is not completely understood. New methods in functional magnetic resonance imaging, such as intrinsic functional connectivity or "resting-state" analysis, may help to clarify this issue. Using such approaches, alterations in the default-mode and salience networks (SNs) have been ...

Klippel-Trenaunay syndrome (KTS) is a rare and sporadic disorder characterized by the triad of capillary malformations, venous varicosities, and limb hypertrophy. The clinical manifestations of KTS are heterogeneous. In this report, we present a unique case of KTS in combination with congenital dislocation of the hip (CDH) in a 4-day-old ...

A 21-year-old man with a history of bronchial asthma during childhood presented with left recurrent pneumothorax. Chest x-ray showed collapse of the left lung. Computed tomography showed hyperlucency and some bullae in the left upper lobe. Thoracoscopic bullectomy and pleurodesis were performed. Pneumothorax recurred twice, for which thoracoscopic bullectomy and ...

Barth syndrome is a complex metabolic disorder caused by mutations in the mitochondrial transacylase Tafazzin. Recently, an inducible Tafazzin shRNA knockdown mouse model was generated to deconvolute the complex bioenergetic phenotype of this disease. To investigate the underlying cause of hemodynamic dysfunction in Barth syndrome, we interrogated the cardiac structural ...

Non-mosaic trisomy 16 is rarely seen in later gestation. Herein, we report a fetus with uniparental complete trisomy 16 manifesting with asplenia syndrome, left hand deformity (only 3 deformed fingers on the left hand) and a left low-set ear. The pregnancy ended in severe placental abruption and resultant fetal demise, ...

Transient, repetitive occlusion stimulates coronary collateral growth (CCG) in normal animals. Vascular smooth muscle cells (VSMCs) switch to synthetic phenotype early in CCG, then return to contractile phenotype. CCG is impaired in the metabolic syndrome. We determined whether impaired CCG was attributable to aberrant VSMC phenotypic modulation by miR-145-mediated mechanisms, ...

BACKGROUND AND PURPOSE: To compare the diagnostic performance of arterial spin-labeling (ASL) and dynamic susceptibility contrast (DSC) perfusion in detecting cerebral blood flow (CBF) changes before and after endovascular recanalization in acute ischemic syndrome. METHODS: The inclusion criteria for this retrospective study were patients with acute ischemic syndrome who underwent ...

Spontaneous cervical epidural hematoma (SCEH) is an uncommon cause of acute nontraumatic myelopathy. SCEH presenting as Brown-Sequard syndrome is extremely rare. A 65-year-old man had motor weakness in the left extremities right after his mother's funeral. He received thrombolytic therapy under the impression of acute cerebral infarction at a local ...

Williams syndrome is a neurodevelopmental genetic disorder caused by a hemizygous deletion on chromosome 7q11.23, resulting in atypical brain structure and function, including abnormal morphology of the corpus callosum. An influence of handedness on the size of the corpus callosum has been observed in studies of typical individuals, but handedness ...

Visceral fat accumulation is located upstream of metabolic syndrome. Recent progress in adipocyte biology has clarified the molecular mechanism for pathophysiology of metabolic syndrome and its related disorders. In this review we summarize adiponectin and AQP7 in the role of metabolic syndrome and cardiovascular diseases.

ABSTRACT: This is a case of a 4-year-old female child with gross left lower extremity deformity detected at birth, including a giant cutaneous hemangioma from flank to foot. She was found to have no other associated abnormalities and was diagnosed with Klippel-Trénaunay syndrome. This is a rare entity and literature ...

Drug-induced hypersensitivity syndrome (DIHS) is a multi-system syndrome resulting from an idiosyncratic reaction to medication. While it commonly results in multi-organ involvement, particularly the liver, there are few reports of DIHS causing cerebral vasculitis and neurological deficits. We report the case of a 63-year old woman with DIHS secondary to ...

Stroke-like migraine attacks after radiation therapy (SMART syndrome) is a recently described clinical entity characterized by transient hemispheric dysfunction manifesting as, but not limited to: visuospatial deficits, confusion, hemisensory deficits, hemiparesis, aphasia, seizures and most prominently headache, in patients with a history of remote external beam radiation therapy to the ...

McCune-Albright syndrome (MAS) is an uncommon polyostotic manifestation of fibrous dysplasia in association with at least one endocrinopathy that is mostly associated with precocious puberty and hyperpigmented skin macules named café-au-lait spots. We present an atypical manifestation of McCune-Albright syndrome in a 19-year-old man with the uncommon association of polyostotic ...

The primary progressive aphasias (PPA) are a heterogeneous group of language-led neurodegenerative diseases resulting from large-scale brain network degeneration. White matter (WM) pathways bind networks together, and might therefore hold information about PPA pathogenesis. Here we used diffusion tensor imaging and tract-based spatial statistics to compare WM tract changes between ...

A patient with typical Lambert-Eaton myasthenic syndrome (LEMS) has a clinical manifestation of proximal muscle weaknesses, a larger-than-100% incremental change in repetitive nerve stimulation on high-rate stimulation electrophysiological testing, and a paraneoplastic origin from small cell carcinoma of the lung. Here, we present a patient with an atypical myasthenic syndrome ...

Some brain malformations have clinical and imaging features that are so specific they lend themselves readily to the diagnosis of a specific syndrome. The autosomal recessive pontocerebellar hypoplasias (PCH) fall into this category. These disorders feature postnatal progressive microcephaly combined with brainstem and cerebellar hemispheres that are hypoplastic at birth, ...

The ciliopathies are a group of heterogeneous diseases with considerable variations in phenotype for allelic conditions such as Meckel-Gruber syndrome (MKS) and Joubert syndrome (JBTS) even at the inter-individual level within families. In humans, mutations in TMEM67 (also known as MKS3) cause both MKS and JBTS, with TMEM67 encoding the ...

Reversible posterior leukoencephalopathy syndrome - a reversible subacute global encephalopathy clinically presenting with headache, altered mental status, visual symptoms such as hemianopsia or cortical blindness, motor symptoms, and focal or generalized seizures - is characterized by a subcortical vasogenic edema symmetrically affecting posterior brain regions. Complete reversibility of both ...

We present the biochemical and molecular diagnosis of dihydrolipoamide dehydrogenase deficiency (also known as E3 deficiency) and Leigh syndrome in a 14-year-old girl with learning disability and episodic encephalopathy and ketoacidosis. The diagnosis was based on values of plasma amino acids and urine organic acids, obtained during acute encephalopathy, lactic ...

ABSTRACT: Crouzon and Apert syndromes are frequently complicated by ocular abnormalities and patients with these syndromes often present with abnormal ocular morphology. The present study assesses orbital volume and ocular complications in patients associated with Crouzon and Apert syndromes.During an 8-year period starting in 2002, fronto-orbital advancement was used for ...

Various nerve anastomoses and anatomic variants in the nervous system have been described. It is important to be familiar with these anastomoses because they can mimic several clinical conditions, possibly leading to misdiagnosis. We report the case of a patient who experienced progressive loss of strength in his left hand ...

A case of a small left pontine tegmental hemorrhage that presented as cheiro-oral syndrome with a bilateral perioral sensory disturbance is described. An 83-year-old man suddenly developed numbness in his bilateral perioral area and right hand. Head CT and MRI (T(2)*-weighted image) revealed a small left pontine tegmental hemorrhage. The ...

Frontal lobe syndromes, better termed as frontal network systems, are relatively unique in that they may manifest from almost any brain region, due to their widespread connectivity. The understandings of the manifold expressions seen clinically are helped by considering evolutionary origins, the contribution of the state-dependent ascending monoaminergic neurotransmitter systems, ...

A young girl presented to the ENT acute clinic with a persistent cough and a bulge in the left oropharynx. As there were no clinical signs suggestive of a quinsy, an MRI was performed that showed a large mass extending from the base of the skull to the epiglottis medialising ...