The aim of the study was to investigate the incidence and type of orofacial clefts associated with congenital defects in a well-defined Lithuanian population. These data are weighty for the further international population-based investigations. Patients and methods. Material of the study comprised 235 cases with orofacial clefts and one or ...

Our objective is to report a rare coexistence of Parry-Romberg disease and ischemic stroke. Here, we report the case of a 34-year-old woman with Parry-Romberg syndrome who developed cerebral infarction. This patient developed sudden left-sided weakness and was admitted to our hospital. Magnetic resonance imaging revealed acute cerebral infarction in ...

Abstract Objectives: To explore the relationships between traditional Chinese medicine (TCM) syndromes and disease severity and prognoses after ischemic stroke, such as neurologic deficits and decline in activities of daily living (ADLs). Methods: The study included 211 patients who met the inclusion criteria of acute ischemic stroke based on clinical ...

We report imaging findings during, between, and after 2 stroke-like episodes in a 45-year-old woman with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome with an A32243G mitochondrial mutation 6 years before. In November 2010, for a first episode, she showed mixed aphasia with logorrhea, disinhibition, agitation, euphoria, ...

OBJECTIVE: To investigate whether Chinese medicine (CM) syndrome is associated with particular molecular mechanism, we explored the correlation between CM syndrome and changes of intercellular adhesion molecule-1 (ICAM-1), matrix metalloproteinase 9 (MMP-9) and heat shock protein 70 (HSP70) in patients with ischemic stroke, which were reported to play an important ...

Myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) is a multisystem clinical syndrome manifested by mitochondrial myopathy, encephalopathy, lactic acidosis and recurrent stroke-like episodes. A 27-year-old female with MELAS syndrome presented with cerebral infarction. Echocardiography revealed a thrombus attached to the apex of the hypertrophied left ventricle, with decreased systolic ...

To investigate the somatosensory findings of pusher syndrome in stroke patients. Twelve pusher patients and twelve non-pusher patients were enrolled in this study. Inclusion criteria were unilateral stroke, sufficient cognitive abilities to understand and follow instructions, and no visual problem. Patients were evaluated for pusher syndrome using a standardized scale ...

We describe 4 patients with stroke caused by hypereosinophilic syndrome, all of whom presented with border zone infarcts, and discuss the possible underlying mechanism. Cardioembolism (endomiocardial fibrosis) would coexist with impaired washout (perfusion disturbance due to high eosinophil count and/or eosinophil-derived substances), explaining the watershed characteristics of the infarcts.

: Small thalamic infarcts can present with a variety of sensory deficits that can be difficult to diagnose clinically because of their seemingly disconnected manifestations. : Here we report a case of a 55-year-old man presenting with the clinical findings of Cheiro-Oral syndrome, a pure sensory thalamic lacunar syndrome that ...

Lateral medullary infarction (LMI) or Wallenberg syndrome is a type of brain stem stroke, more specifically, a type of crossed brain stem syndrome. LMI is a well-described entity with several documented typical characteristics including pain and temperature impairment in the ipsilateral to the lesion side of the face and the ...

In India, Atlantoaxial dislocation (AAD) is the commonest skeletal craniovertebral junction (CVJ) anomaly, followed by occipitalisation of atlas and basilar invagination. The usual presentation is progressive neurological deficit (76-95% cases) involving the high cervical cord, lower brainstem and cranial nerves. The association between vertebro-basilar insufficiency and skeletal CVJ anomalies is ...

A 62-year-old man presented with a 2-day history of headache, nausea and dizziness on a background of recently diagnosed stage 2c prostate carcinoma and controlled hypertension. Imaging confirmed bilateral cerebellar strokes; on further investigations, he was found to have undiagnosed subclavian steal syndrome following severe injury to his left arm ...

Prompt and accurate diagnosis of acute ischemic stroke is critical to seek acute therapy. In traditional Chinese medicine (TCM) science, there is a comprehensive system of diagnosis and medical care of acute ischemic stroke. Here we introduce a two-level model for the analysis of TCM syndrome of acute ischemic stroke. ...

Acute ataxia is a fairly common emergency that confronts the pediatric neurologist in daily life. The differential diagnosis of acute pediatric ataxia is wide, but informed history and careful clinical examination can narrow it and help target investigations. This review discusses various etiologies of acute pediatric ataxia, focusing on clinical ...

PURPOSE OF REVIEW: The aim of this study is to review the recent findings on the prevalence, clinical features, and diagnosis of vertigo from brainstem and cerebellar strokes. RECENT FINDINGS: Patients with isolated vertigo are at higher risk for stroke than the general population. Strokes involving the brainstem and cerebellum ...

Acquired partial lipodystrophy (PL) (Barraquer-Simons syndrome) is a rare condition with onset in childhood, and it is characterized by progressive loss of subcutaneous fat in a cephalocaudal fashion. This report describes a case of acquired PL in a 16-year-old girl, who had progressive loss of facial fat since 3 years. ...

Gerstmann in 1924. observed in a few patients a concomitant impairment in discriminating their own fingers, writing by hand, distinguishing left from right and performing calculations. He claimed that this tetrad of symptoms constituted a syndromal entity, assigned it to a lesion of the dominant parietal lobe. Since than, Gerstmann`s ...

A 5-year-old right-handed boy was having breakfast with his mother when he suddenly vomited, slumped to the right, and his speech became slurred. The only past medical history of interest was that he suffered from Down syndrome with moderate mental retardation but no other complications. The child did not suffer ...

BACKGROUND:: An association between Moyamoya disease and Down syndrome appears to exist based on reported anecdotal cases in the literature. OBJECTIVE:: To determine the prevalence of Down syndrome associated with Moyamoya disease in inpatients and to identify the demographic and clinical features of Moyamoya disease that may be unique when ...

Although the carotid artery stump as an embolic source for ischemic stroke has been well described, there have been few systematic reports of a similar syndrome in the posterior circulation (PC) after vertebral artery (VA) origin occlusion. The aim of this study was to identify the incidence and characteristics of ...

A 76-year-old man with a history of pontine, cerebellar infaction suddenly became speechless during the procedure of percutaneous coronary intervention. On examination, he was unable to close his mouth voluntarily, but spontaneous closing was preserved when smiling. He had anarthria and hypophonia, although his comprehension was preserved. He also had ...

Recurrent thunderclap headaches, seizures, strokes, and non-aneurysmal subarachnoid haemorrhage can all reveal reversible cerebral vasoconstriction syndrome. This increasingly recognised syndrome is characterised by severe headaches, with or without other symptoms, and segmental constriction of cerebral arteries that resolves within 3 months. Reversible cerebral vasoconstriction syndrome is supposedly due to a ...

Spontaneous coronary artery dissection (SCAD) is an unusual cause of acute coronary syndrome or sudden cardiac death. SCAD has most frequently been described as presenting as an acute coronary syndrome in females during the peripartum period. It may also be associated with autoimmune and collagen vascular diseases, Marfan's syndrome, chest ...

Grange syndrome is a disorder characterized by arterial occlusive disease, hypertension, congenital cardiac defects, bone fragility, brachysyndactyly, and learning disabilities. It was first described in four members of the same family and in two sporadic cases thereafter, suggesting the possibility of various patterns of inheritance. We report on the case ...

We conducted a study to evaluate arterial stiffness markers in subjects with acute ischemic stroke and metabolic syndrome and in relation to TOAST subtype of stroke. We enrolled 130 patients with acute ischemic stroke and metabolic syndrome, 127 patients with acute ischemic stroke without metabolic syndrome and 120 control subjects ...

Many guidelines recommend emergency assessment for patients with ≥2 TIAs within 7 days, perhaps in recognition of the capsular warning syndrome. However, it is unclear whether all patients with multiple TIAs are at high early risk of stroke and whether treatable underlying pathologies are more prevalent in this group. We ...

The toxic leukoencephalopathy syndrome is increasingly recognized, but rarely presents as an acute cerebrovascular syndrome. We report a 23-year-old man with sudden onset of a right hemispheric sensorimotor syndrome and final diagnosis of HIV-induced toxic leukoencephalopathy.

To investigate the effect of correspondence of prescriptions and the traditional Chinese medicine (TCM) syndrome of ischemic stroke. Based on standard syndrome diagnosis and a series of effective formulas, a randomized, double-blind, parallel-controlled clinical trial on correspondence of prescriptions and the TCM syndrome of ischemic stroke was conducted. The formulas ...

Strategic regions correspond to associative, limbic and paralimbic structures and related circuits, that underpin cognitive/behavioral functions. Strokes in these eloquent sites produce pictures of vascular dementia with syndromic features due to specific site lesion and/or interruption of their interconnections. This study aims at analysing subcortical strategic strokes that express similar ...

Stroke should not solely be considered a disease of the elderly, and racial disparities are most evident among young adults. Acute stroke can present at any age and it is important to be familiar with the evaluation and treatment of stroke to provide timely care. The National Institute of Health ...

An interesting and rare case of name syndrome is reported here. A young patient presented with stroke (left side hemiperesis due to cardiac embolic stroke) and cutaneous lesions. Further investigations revealed that left atrial myxoma was the cause of cardioembolic stroke. Skin lesions were also present which included, nevi, ephelides ...

Hypereosinophilic syndrome is a rare disorder of the hematopoietic system. The disease is characterized by continuously high number of eosinophils (>1.5 x 10(9)/L) for more than six months. Other possible causes of hypereosinophilia, such as allergic and parasitic diseases, malignant disease, Churg-Strauss disease and infection should be eliminated. The most ...

The metabolic syndrome has known as an independent risk factor of stroke. The occurrence of this syndrome is due to genetic factors and lifestyle. This study was performed on the frequency of metabolic syndrome prevalence in ischemic stroke patients compare to control. one hundred ischemic stroke patients and 100 controls ...

The clinical hallmark of viral encephalitis is an acute febrile illness, but stroke-like presentations have been rarely described. We report a patient who arrived at A&E with an acute right middle cerebral artery syndrome, without fever. Following thrombolytic treatment, clinical deficit almost disappeared and a critical ipsilateral carotid stenosis was ...

A 68-year-old man was referred to our hospital for a dysphagia evolving for 10 days. Clinical examination had found neurological signs as contralateral Horner's syndrome, ipsilateral palatal paresis, gait ataxia and hoarseness. Video-fluoroscopy showed a lack of passage of contrast medium to the distal esophagus. Esogastroduodenoscopy was normal. The cranial ...

OBJECTIVE: Metabolic syndrome has emerged as a novel risk factor in cardiovascular disease due to its potential for predicting stroke in population-based studies. We investigated the relationship of metabolic syndrome with stroke recurrence. METHODS: This was a retrospective analysis of Chinese patients enrolled in the prospective Abnormal gluCose Regulation in ...

Vascular (type IV) Ehlers-Danlos is an autosomally dominant inherited condition that results from a defect in type III collagen production. It can result in vascular complications such as rupture and dissection, as well as gastrointestinal and uterine rupture. We present the case of a 17-year-old girl who presented with transient ...

Churg-Strauss syndrome (CSS), a systemic vasculitis accompanied by asthma and eosinophilia, almost invariably affects the lung and is frequently associated with cutaneous involvement. It rarely has cardiac involvement. We report an unusual case of CSS with myocardial involvement and stroke. A 16-year old female suffered of allergic asthma for 4 ...

  The objective of the study was to catalog hair shaft abnormalities in individuals with ectodermal dysplasia (ED) syndromes using light microscopy and to compare findings with those in unaffected controls. Light microscopy was performed in a nonblinded manner on hair shafts from 65 participants with seven types of ED ...

BACKGROUND: McCune-Albright syndrome is a relatively rare disease characterized by the trio of fibrous dysplasia, café-au-lait pigmentation, and endocrine disturbances. It predominantly affects females and may be associated with sarcomatous degeneration in 0.4% to 4% of the cases. CASE REPORT: This article reports on the case of a 24-year-old female ...

Abstract We describe an endoscopic transsphenoidal excision of a GH-PRL-secreting pituitary adenoma and remodeling of frontotemporal fibrous dysplasia in a patient with McCune-Albright syndrome. Sphenoid dysplasia rendered transsphenoidal surgery challenging, but a study of the radiological anatomy and good surgical planning made this feasible. Medical therapy and radiation was required ...

Ectodermal dysplasia-skin fragility (EDSF) syndrome is a rare and first described inherited disorder of desmosomes. It occurs due to loss-of-function mutations in PKP1 gene resulting in poorly formed desmosomes and loss of desmosomal and epidermal integrity. We report a case of a 2-year-old Indian male child who presented with palmoplantar ...

Joubert syndrome (JS) is a rare developmental disorder of the central nervous system, characterised by brainstem and cerebellar malformations, hypotonia, episodic hyperapnea and apnea and mental retardation. It may be associated other systemic abnormalities like ocular (e.g., retinal dysplasia, etc.), oculomotor, musculoskeletal and renal (e.g., cystic dysplasia, nephronophthisis), with renal ...

Schöpf-Schulz-Passarge syndrome (SSPS; MIM224750) is a rare autosomal recessive form of ectodermal dysplasia that was recently shown to result from mutations in the WNT10A gene. We now report a 59-year-old woman with SSPS in whom a homozygous nonsense mutation (p.Cys107X) in WNT10A was detected. Mutations in this gene may also ...

Congenital pulmonary valvular dysplasia is an unusual condition typically associated with Noonan syndrome. Among its other cardiac manifestations, occasional patients with Noonan syndrome have been demonstrated to have hypertrophic nonobstructive cardiomyopathy, which may be biventricular. We report a unique case of pulmonary valvular dysplasia, dynamic right ventricular outflow tract obstruction ...

Systemic contact dermatitis is a condition that occurs when an individual sensitized to a contact allergen is exposed to that same allergen or a cross-reacting molecule through a systemic route. Systemic exposure to allergens can include transcutaneous, transmucosal, oral, intravenous, intramuscular, and inhalational routes. Baboon syndrome is perhaps the most ...

Genitopatellar syndrome is characterized by absent/hypoplastic patellae, genital and renal abnormalities, dysmorphic facial features, and mental retardation. Cardiac anomalies, ectodermal dysplasia, and radio-ulnar synostosis have been suggested as additional features. We report on additional female patient with sensorineural hearing loss, cleft palate, and hypothyroidism in addition to known anomalies. Findings ...

The oto-spondylo-mega-epiphyseal-dysplasia (OSMED) phenotype is an autosomal recessive trait that is a skeletal dysplasia with the hallmark findings of limb shortening, multiple skeletal and radiological abnormalities, mid-face hypoplasia with a flat nasal bridge, small upturned nasal tip, and sensorineural hearing loss. A 3.5-year-old girl born to consanguineous Turkish parents had ...

We performed an immunomorphological study of mast cells from undamaged skin in women with phenotypical evidence of undifferentiated connective tissue dysplasia syndrome, patients of cosmetological clinics. It was found that the numerical density of mast cells containing chymase granules in this condition 1.7-fold surpassed the corresponding parameter in patients without ...

Background  Individuals with Angelman syndrome appear strongly motivated by social contact, but there have been few studies that have examined the relationship between sociability and familiarity. In this study we compared social behaviour in Angelman syndrome when in contact with mothers and strangers. Methods  We systematically manipulated adult familiarity, eye ...