Macrophage activation syndrome (MAS) is a systemic disorder with a high mortality, commonly associated with rheumatological conditions, but which can also occur as a complication of several infections. Here we present a case of MAS following Acinetobacter baumannii sepsis. Early institution of therapy with prednisolone, cyclosporine, colistin, and polymyxin resulted ...

We report, for the first time, a primary oral presentation of a germ cell yolk sac tumor in a 4-year-old girl with Aicardi syndrome. The diagnosis, differential diagnosis, and histogenesis are discussed.

Background  Recent advances in genetics are particularly relevant in the field of intellectual disability (ID), where sub-microscopic deletions or duplications of genetic material are increasingly implicated as known or suspected causal factors. Data-driven reports on the impact of providing an aetiological explanation in ID are needed to help justify widespread ...

Antiphospholipid syndrome (APS), more common in females, manifests clinically as thrombosis and/or recurrent fetal loss. Hemolytic autoimmune anemia and neurological, cardiac and cutaneous manifestations are common. This is the case report of a male patient whose first manifestation of the disease was gangrene of the auricle. The diagnosis of APS ...

Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterized by pancreatic exocrine insufficiency and bone marrow failure, often associated with neurodevelopmental and skeletal abnormalities. Mutations in the SBDS gene have been shown to cause SDS. The purpose of this document is to provide draft guidelines for diagnosis, evaluation of organ and system ...

Sustained clinical cytopenia is a frequent laboratory finding in ambulatory and hospitalized patients. For pathologists and hematopathologists who examine the bone marrow (BM), a diagnosis of cytopenia secondary to an infiltrative BM process or acute leukemia can be readily established based on morphologic evaluation and flow cytometry immunophenotyping. However, it ...

OBJECTIVE: Polycystic ovarian syndrome is one of the most frequent endocrine dysfunctions in women in their fertile age. To date, a clear definition of the disease remains controversial among experts, partly because study results concerning diagnostics and therapy are incoherent. In this survey, we intend to give an insight into ...

INTRODUCTION: Corticobasal syndrome (CBS) has a heterogeneous clinical presentation with no specific pathologic substratum. Its accurate diagnosis is a challenge for neurologists; in order to establish CBS definitively, postmortem confirmation is required. Some clinical and radiological features can help to distinguish it from other neurodegenerative conditions, such as Creutzfeldt-Jakob disease ...

We report a case of recurrent knee valgus deformity in a patient with Ellis-van Creveld syndrome. Varus osteotomy, distraction osteogenesis, or epiphyseal stapling is one treatment option for valgus malalignment to improve appearance, gait, and function. However, surgical correction of valgus knee deformity by varus osteotomies of the proximal tibia ...

Medial tibial stress syndrome is a common overuse injury characterized by pain located on the medial side of the lower leg during weight bearing activities such as gait. The purpose of this study was to apply linear and nonlinear methods to compare the structure of variability of midfoot kinematics and ...

Ellis-van Creveld Syndrome (EVC) is a rare autosomal recessive disorder. In 1940 Richard W. Ellis and Simon van Creveld first reported on a rare skeletal dysplasia, which to emphasize the main clinical characteristics, was termed "chondro-ectodermal dysplasia". The ectodermal involvement includes the skin, hair and nails while the chondrodysplastic characteristics ...

Abstract Background: Higher cardiorespiratory fitness (CRF) and muscle fitness (MF) attenuate metabolic syndrome prevalence in men. However, associations of CRF and MF with metabolic syndrome were poorly understood in South Korean men. Therefore, this study aimed to examine the independent and joint associations of CRF and MF on metabolic syndrome ...

The aim of this study was to quantify the gait patterns of adults with joint hypermobility syndrome/Ehlers-Danlos syndrome (JHS/EDS-HT) hypermobility type, using Gait Analysis. We quantified the gait strategy in 12 JHS/EDS-HT adults individuals (age: 43.08+6.78years) compared to 20 healthy controls (age: 37.23±8.91years), in terms of kinematics and kinetics. JHS/EDS-HT ...

A 62year old man developed a compartment syndrome of the thigh after total knee arthroplasty. Twelve years previously he had a HTO of the same knee complicated by a compartment syndrome of the calf. The clinical diagnosis was confirmed with intracompartmental pressure measurement. Following fasciotomy pressures were normalized and further ...

The purpose of this manuscript is to review the knowledge of scapular positioning at rest and scapular movement in different anatomic planes in asymptomatic subjects and patients with shoulder impingement syndrome (SIS) and glenohumeral shoulder instability. We reviewed the literature for all biomechanical and kinematic studies using keywords for impingement ...

Bone abnormalities and nerve compression are sparsely reported features of amniotic band syndrome. No studies of the vascular architecture of limbs affected by this syndrome have been published. Patients with amniotic band syndrome affecting the limbs were evaluated in the period between 1997 and 2007. The arterial blood supply was ...

We report on a female patient with blepharophimosis mental retardation syndrome of Say/Barber/Biesecker/Young-Simpson (SBBYS) type. Main findings in her were marked developmental delay, blepharophimosis, ptosis, cleft palate, external auditory canal stenosis, small and malformed teeth, hypothyroidism, hearing impairment, and joint limitations. We performed diffusion tensor magnetic resonance imaging (MRI) and ...

Ehlers-Danlos syndrome (EDS) type III is a inherited connective tissue disorders characterized by extensibility of the skin, hypermobility of the joints, chronic pain, tissue fragility, easy bruising, and delayed wound healing with result of atrophic scars. The patients report commonly a history of recurrent dislocations of the shoulders and knees ...

Intersection syndrome of the forearm is a painful condition in the area where the muscle bellies of the abductor pollicis longus and extensor pollicis brevis cross the common wrist extensors. A similar case of the foot with marked fibrosis at the interconnection of flexor hallucis longus and flexor digitorum tendons ...

ABSTRACT: Study Design: Case report and review of the literatureObjective: We report a case of Grisel´s syndrom with a delayed diagnosis. The patients first presentation in our pediatric orthopedics department was two month after surgery (cochlea implantation) with a persistent torticollis. Radiographs revealed a subluxated atlantoaxial joint. We treated our ...

We describe a case of bilateral weakness of the lower limbs, sensory disturbance and intermittent urinary incontinence, secondary to untreated Gitelman's syndrome, in a 42-year-old female who was referred with presumed cauda equina syndrome. On examination, the power of both legs was uniformly reduced, and the perianal and lower-limb sensation ...

Sotos syndrome is caused by a gene deletion with an autosomal dominant pattern of inheritance. Cerebral gigantism, hypotonia and joint hyperextensibility are characteristic features of this syndrome. A percentage of these patients develop progressive scoliosis early in life. In the literature, few studies on the evolution of scoliosis in Sotos ...

The terminology of Achilles tendon pathology has become inconsistent and confusing throughout the years. For proper research, assessment and treatment, a uniform and clear terminology is necessary. A new terminology is proposed; the definitions hereof encompass the anatomic location, symptoms, clinical findings and histopathology. It comprises the following definitions: Mid-portion ...

Coronary heart disease (CHD) is still the leading cause of death for adults worldwide. Traditional Chinese medicine (TCM) has a history of 1000 years fighting against the disease and provides a complementary and alternative treatment to it. Syndrome is the core of TCM diagnosis and it is traditionally diagnosed based ...

The causes of brachial plexus palsy in neonates should be classifed according to their most salient associated feature. The causes of brachial plexus palsy are obstetrical brachial plexus palsy, familial congenital brachial plexus palsy, maternal uterine malformation, congenital varicella syndrome, osteomyelitis involving the proximal head of the humerus or cervical ...

This article discusses the importance of acupuncture practice utilizing diagnosis and distribution of various meridians and connecting channels based on meridian theory. The meridian system is considered as basic anatomy for acupuncture, so the corresponding pathways and related syndromes of different channels should play a key role in differentiation, known ...

Patellofemoral Pain Syndrome is one of the most common knee disorders among physically active young women. Despite its high incidence, the multifactorial etiology of this disorder is not fully understood. To investigate the influence of Patellofemoral Pain Syndrome on plantar pressure distribution during the foot rollover process (i.e., the initial ...

Escobar syndrome is a rare autosomal recessive disorder which is characterized by growth retardation, axillary, antecubital, popliteal digital, and intercrural joint flexion contracture, pterygium in the eyes, cleft palate, decreased lung capacity, genital abnormalities, and spinal deformity. In this case, we presented the anesthesic management of a 2-year-old child undergoing ...

Polycystic ovary syndrome (PCOS) is recognized as the most common endocrinopathy in reproductive-aged women. The symptoms of PCOS vary with age, race, weight, and medications, adding to the challenges of accurate diagnosis. Adolescent patients pose particular diagnostic problems because characteristics of normal puberty often overlap with signs and symptoms of ...

Grisel's syndrome designates subluxation of atlanto-axial joint unrelated to trauma or bone disease. Atlanto-axial subluxation is seen after the upper neck inflammatory processes of head and neck region. Moreover, this rare clinical entity has been observed after various otolaryngological surgical approaches including adenoidectomy, tonsillectomy and mastoidectomy. An 8-year-old girl and ...

BACKGROUND: A greater Q-angle has been suggested as a risk factor for Patellofemoral Pain Syndrome. Greater frontal plane knee moment and impulse have been found to play a functional role in the onset of Patellofemoral Pain Syndrome in a running population. Therefore, the purpose of this investigation was to determine ...

Porcine circovirus-2 (PCV-2) is the main agent related to post-weaning multisystemic wasting syndrome (PMWS) and it is also associated with other syndromes affecting pigs. Not all pigs infected with PCV-2 will develop PMWS and the incidence of PMWS is higher when coinfecting viral and bacterial pathogens are present. In this ...

Compartment syndrome of the foot is a rare complication of injury to the foot. Treatment by decompression of the compartments is debatable. The debate surrounding decompression stems from the rarity of the condition, the lack of consensus regarding the anatomy of the foot compartments and whether to accept the inevitable ...

Fat embolism syndrome is a rare and potentially lethal complication most commonly seen in long bone fractures and intramedullary manipulation. The clinical triad of fat embolism syndrome consists of mental confusion, respiratory distress, and petechiae. This study reports a case of cerebral fat embolism syndrome following elective bilateral total knee ...

A 17-month-old previously healthy child presented with a 2-day history of inability to fully open his eyes and slight gait ataxia. In the month preceding admission, he had had low grade, intermittent fevers, followed by a nonproductive cough and sneezing. During hospital admission he lost deep tendon reflexes and was ...

Thoracic outlet syndrome is uncommon in adolescence. Cervical rib fracture is an extremely rare cause of thoracic outlet syndrome in this age group. We report an unusual case of thoracic outlet syndrome in a 14-year-old girl caused by pseudarthrosis of the cervical rib. A magnetic resonance imaging scan showed significant ...

Self-fertilization is classically thought to be associated with propagule dispersal because self-fertilization is a boon to colonizers entering environments devoid of pollinators or potential mates. Yet, it has been theoretically shown that random fluctuations in pollination conditions select for the opposite association of traits. In nature, however, various ecological factors ...

Posterior ankle impingement syndrome is the term attributed to the clinical disorder characterized by posterior ankle pain that occurs in forced plantar flexion. In this review article, we discuss the anatomy, aetiology, clinical and radiological features of posterior ankle impingement syndrome and consider the conservative and surgical management and the ...

Ulceration of non-caseating granulomas is a rare cutaneous presentation of sarcoidosis. Granulomatous vasculitis is classically associated with Wegener's granulomatosis, lymphomatoid granulomatosis or Churg-Strauss syndrome. It is also commonly noted in pulmonary sarcoidosis, but has seldom been reported in cutaneous sarcoidosis, particularly the ulcerative variant. We present a rare case of ...

Bone marrow edema syndrome is a condition of unknown etiology, presenting with painful limping. It is characterized by normal radiographs, but magnetic resonance imaging findings change with bone marrow edema. When there is osteopenia in the radiographs, the condition is called transient osteoporosis. The term migratory bone marrow edema syndrome ...

Knee pain is a common complaint in clinical practice, and pes anserinus tendino-bursitis syndrome (PATB) has been frequently diagnosed based only on clinical features that may cause equivocal interpretations. Patients complain of characteristic spontaneous medial knee pain with tenderness in the inferomedial aspect of the joint. Studies with different imaging ...

Thoracic outlet syndrome (TOS) is a frequently overlooked peripheral nerve compression or tension event that creates difficulties for the clinician regarding diagnosis and management. Investigators have categorized this condition as vascular versus neurogenic, where vascular TOS can be subcategorized as either arterial or venous and neurogenic TOS can subcategorized as ...

Sporotrichosis is a fungal disease usually restricted to the cutaneous and lymphatic systems. Visceral involvement is unusual. To date, only 21 cases of sporotrichosis meningitis have been reported, some of these associated with immunosuppression. According to the reported cases, difficulty establishing the correct diagnosis is almost the rule which, undoubtedly, ...

Dislocation of the condyle of the mandible is a common condition that may occur in an acute or chronic form. It is characterised by inability to close the mouth with or without pain. Dislocation has to be differentiated from subluxation which is a self reducible condition. Dislocation can occur in ...

Cushing's syndrome is characterized by excessive elevation of glucocorticoid concentrations. In rare cases, the treatment of Cushing's syndrome may result in unmasking or aggravation of diseases responsive to glucocorticoid medication. We report two cases of sarcoidosis following Cushing's syndrome. A 43 year-old male developed cutaneous sarcoidosis and mediastinal lymphadenopathy after ...

Löfgren's syndrome is a rare variant of sarcoidosis characterized by the triad of hilar adenopathy, acute polyarthritis, and erythema nodosum. It can be the first presentation of underlying sarcoidosis. Also, the initial presentation of Löfgren's syndrome may be confused with cellulitis. This is a self-limiting disease with a very good ...

We present a patient with longstanding ankylosing spondylitis complicated with cauda equina syndrome. The patient suffered from increasing pain in the leg with reduced sensitivity and extremely cold feet associated with incontinence. Diagnostic workup revealed dural ectasia, arachnoiditis and a spinal inflammatory mass leading to extensive vertebral bone destruction. Of ...

A 73-year-old woman developed subacute meningitis-retention syndrome (MRS), dermatitis, and latent pneumonitis likely due to the herbal medicines Shinbu-Tou and Rikkunshi-Tou. The responsible site of lesions for urinary retention seemed to be the spinal micturition pathways and, to a lesser extent, the sacral spinal cord. All of her clinical manifestations ...

A case of antiepileptic hypersensitivity syndrome presenting as an acute septic illness is reported. A 67-year-old man, with a history of essential hypertension (treated with amlodipine) and recently diagnosed nocturnal epilepsy (treated with phenytoin), presented initially with an acute pneumonic illness with periorbital oedema. This was treated successfully with antibiotics ...

Progressive multifocal leukoencephalopathy (PML) is a severe demyelinating disease of the central nervous system caused by the JC virus; the mortality rate is high and it is usually refractory to treatment. In non-HIV patients, PML occurs as a late consequence of hematologic malignancies or during prolonged immunosuppression for transplantation or ...