The anaesthetic management of patients with Morquio syndrome is complicated by a number of factors including odontoid hypoplasia, atlantoaxial instability, thoracic kyphosis, and deposition of mucopolysaccharides in the soft tissue of the oropharnyx. Herein we describe the anaesthetic considerations and management of a 26 year old adult with Morquio syndrome, ...

Refractory anaemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T) is a rare entity belonging to myeloproliferative/myelodysplastic syndromes. Myelodysplastic syndrome (MDS) with isolated del(5q) is a category of MDS characterized by better prognosis and specific morphology. Herein we describe a 69-year-old male with anaemia and thrombocytosis presenting with coexisting features ...

Wyburn-Mason is a rare vascular disorder, comprised of arteriovenous malformations (AVMs) of the midbrain and retina. It can cause visual symptoms depending on its localization and extension. Vitreous and intraretinal hemorrhage and neovascular glaucoma have been previously described. A case of rhegmatogenous retinal detachment in a patient with Wyburn-Mason syndrome ...

Traditional management of Gradenigo's syndrome requires aggressive and radical surgery without any attempt to preserve hearing. Recent reports, however, describe a successful outcome after conservative surgical intervention without labyrinthectomy. A similar outcome has also been reported in patients who were only prescribed with antibiotics and did not undergo myringotomy. We ...

Wernicke's encephalopathy is an acute, potentially fatal, neuropsychiatric syndrome resulting from thiamine deficiency. The disorder is still greatly under-diagnosed, and failure to promptly identify and adequately treat the condition can lead to death or to the chronic form of the encephalopathy - Korsakoff's syndrome. Wernicke's encephalopathy has traditionally been associated ...

Sweet's syndrome characterized by fever, blood neutrophilia and inflammatory skin lesions, is rarely diagnosed in children. It presents in three clinical settings: classical Sweet's syndrome, usually after a respiratory tract infection; malignancy-associated, frequently related to acute myelogeneous leukemia; and drug-induced. We present, to the best of our knowledge, the first ...

Vitreomacular traction syndrome has recently been recognized as a distinct clinical condition. It may lead to many complications, such as cystoid macular edema, macular pucker formation, tractional macular detachment, and full-thickness macular hole formation. We report a case of vitreomacular traction syndrome with eccentric traction at the macula and a ...

First described in 1956, stiff person syndrome is characterized by episodes of slowly progressive stiffness and rigidity in both the paraspinal and limb muscles. Although considered a rare disorder, stiff person syndrome is likely to be under-diagnosed due to a general lack of awareness of the disease in the medical ...

The syndrome of inappropriate antidiuresis is the most common cause of euvolemic hypo-osmolality. This syndrome is associated with a wide variety of diseases. However, its most frequent causes are related to malignancies, especially lung cancer. In this case report, we describe an unknown association of the syndrome of inappropriate antidiuresis ...

Overlap syndromes, such as scleromyositis, antisynthetase syndrome and mixed connective tissue disease, consist of a blend of clinical features involved in two separate autoimmune disorders. Scleromyositis, the most common overlap syndrome, is usually observed in adults, and has rarely been documented in childhood. Here, the case of a 10-year-old African ...

The main advantage of recognition and diagnosis of SAPHO syndrome is the avoidance of unnecessary prolonged antibiotic treatment and repeated invasive procedures. The combination of synovitis, acne, pustulosis, hyperostosis and aseptic osteitis is known as SAPHO syndrome. The most common site of the disease is the upper anterior chest wall, ...

Hyperimmunoglobulin D and periodic fever syndrome (HIDS) is a rare, hereditary autoinflammatory condition, characterized by recurrent inflammatory episodes. There is no proven treatment for HIDS, but various drugs including, non-steroidal anti-inflammatory drugs, colchicine, steroids, statins and thalidomide have all been tried. Recently, some patients have demonstrated a good clinical response ...

Poland's syndrome is a rare congenital entity characterized by unilateral partial or total hypoplasia of the major pectoralis muscle, breast and/or ipsilateral hand abnormalities. It has been reported in association with various structural and functional abnormalities. We report about a 23-year-old male kick-boxer with Poland's syndrome who presented in our ...

We report a case of Cronkhite-Canada syndrome (CCS) associated with myelodysplastic syndrome (MDS). A 54-year-old woman, diagnosed as MDS the prior year after evaluation of anemia, visited our hospital with the chief complaint of epigastric discomfort. She also had dysgeusia, alopecia, atrophic nail change, and pigmentation of the palm, all ...

A 6-year-old girl is described with a unique, rare type of tibial hemimelia known as Carraro syndrome (OIMI 275230). There are only two previous reports of this condition in the literature. In our patient, the tibia anomaly was associated with other skeletal abnormalities, hemivertebra and tetralogy of Fallot. This association ...

Facial hemiatrophy is a typical manifestation of Parry-Romberg syndrome, characterized by a slow progressive atrophy that appears in early stages of life, primarily affecting the subcutaneous tissue and subjacent fat on 1 side of the face. We describe the case of a 42-year-old female patient with stabilized moderate facial hemiatrophy ...

Prolonged hypocalcemia following parathyroidectomy, called hungry bone syndrome, is a common complication of parathyroid surgery seen in 13-30% of cases. In this article, we report the case of a 48-year-old woman with bone pain and multiple brown tumors as the first manifestation of primary hyperparathyroidism due to a large parathyroid ...

Lung involvement in Sjögren's syndrome (SS) can affect trachea, bronchus, small airways, pleura and may cause interstitial lung injury. It may also be associated with malignancies, particularly non-Hodgkin's lymphoma, which is a well-recognized complication of this disease. Here we describe the occurrence of localized amyloidosis presenting as pulmonary nodules in ...

BACKGROUND: Bing-Neel syndrome is an extremely rare neurologic complication of Waldenstr??m macroglobulinemia (WM) that was first described in 1936. It is associated with central nervous system infiltration by neoplastic lymphoplasmacytoid and plasma cells with or without cerebrospinal fluid (CSF) hyperglobulinemia. CASE REPORT: We report a case of a 69-year-old white ...

We describe a 10-year-old patient with naevoid basal cell carcinoma syndrome (NBCCS) which was diagnosed when she was 3 years old. She has developed multiple basal cell carcinomas (BCCs) over this time, in particular on her face and trunk. However, we are interested to report that at least two have ...

INTRODUCTION: Basal cell nevus syndrome (BCNS), also known as Gorlin-Goltz syndrome, comprises five main pathological features: nevoid basal cell carcinomas, keratocystic odontogenic tumors, congenital skeletal anomalies, calcification of the falx cerebri, and point skin depressions on the palms and/or soles. The disease exhibits a dominant autosomal hereditary trait, with implication ...

A case of a neonate with Rhesus hemolytic disease of the newborn who went on to develop bronze baby syndrome (BBS) is reported. During his admission, inconsistencies between pulse oximetry saturations (SpO(2)) and his arterial partial pressure of oxygen (PaO(2)) measurements raised the suspicion of interference with our SpO(2) monitoring. ...

Transurethral resection of the prostate (TURP) syndrome is a rare but potentially fatal syndrome with multifactorial pathophysiology that is now better understood. Unfortunately, despite this improved understanding, it is not yet obsolete and still remains a risk. Many reviews of TURP syndrome have been presented from an anesthetic perspective; this ...

Foix-Chavany-Marie Syndrome (FCMS) or bilateral opercular syndrome is characterised by faciopharyngoglossomasticatory diplegia with automatic voluntary dissociation and is a rare form of pseudobulbar palsy most commonly associated with occlusive cerebrovascular disease. We present a transient manifestation of the syndrome, in a patient who suffered two sequential traumatic brain injuries.

Platypnea is characterized by breathlessness in the upright position. Orthodeoxia is defined by arterial desaturation on standing. Herein we describe a case of platypnea-orthodeoxia syndrome in a patient who underwent a right pneumonectomy for adenocarcinoma of the lung. Closure of a patent foramen ovale, causing a right-to-left shunt, with an ...

The literature on grammatical skills in persons with Cri du chat syndrome (CCS) is very limited, and the need for more knowledge in this area is thus evident, in particular for speech and language therapists working with individuals with this syndrome. This case study report describes the syntactic skills of ...

Giant hemangiomas are rare in newborn babies and may cause some life-threatening complications such as congestive heart failure and coagulopathies including severe thrombocytopenia, microangiopathic hemolytic anemia and bleeding such as Kasabach-Merritt syndrome. We have presented here one infant case with a right lower brachial plexus paralysis due to giant hemangioma ...

Fetuses exposed to aminopterin during the 8th-9th week of development may show aminopterin embryophathy (AE). Surviving children have a specific phenotype that includes unusual face, skull, and skeletal abnormalities. Fraser et al. [Fraser et al. (1987); Clin Genet 32:28-34] described two children with multiple malformations characteristic of the aminopterin syndrome ...

Diaphyseal medullary stenosis is a rare skeletal dysplasia of unknown etiology with potential autosomal dominant genetic inheritance. A variant of diaphyseal medullary stenosis has been associated with a high risk of malignant transformation, specifically in the form of malignant fibrous histiocytoma. This potential combination of diaphyseal medullary stenosis and malignant ...

BACKGROUND: Cockayne syndrome is a rare autosomal recessive disorder with dwarfism, mental retardation, and otherwise clinically heterogeneous features. Classically, the onset of Cockayne syndrome starts in the second year of life. The failure of RNA synthesis to recover to normal rates after UV-C irradiation provides a useful diagnostic test and ...

The molar tooth sign is seen in very few conditions and is a very rare paediatric central nervous system congenital anomaly. Molar tooth sign is the result of cerebellar vermis hypoplasia, thick and maloriented superior cerebellar peduncles, and an abnormally deep interpeduncular fossa. In Joubert syndrome this is seen in ...

Hypocomplementemic urticarial vasculitis syndrome (HUVS) is an uncommon immune complex-mediated entity characterized by urticaria with persistent acquired hypocomplementemia. First described in 1973, HUVS is associated with several systemic findings including leukocytoclastic vasculitis, severe angioedema, laryngeal edema, pulmonary involvement, arthritis, arthralgia, glomerulonephritis, and uveitis. These manifestations should be present for at ...

A case report is presented of an aortic dissection in a patient with Turner's syndrome that went undiagnosed. A thorough discussion of this fatal condition in this group of patients is included.

Small cell lung cancer (SCLC) is an aggressive neuroendocrine carcinoma typically associated with smoking. The incidence of the disease has reduced in recent years in Western Europe as smoking habits have changed [1]. SCLC in never smokers is rare and aetiology unclear. Young's syndrome is another rare condition, characterized by ...

E.G. Muir and D. Torre independently described widespread cutaneous changes associated with internal malignancy, which are presently known as the Muir-Torre syndrome. This syndrome is defined as the coexistence of sebaceous adenomas, sebaceus carcinomas, keratoacanthomas, and pedunculated tumors, some with lobulated structure. The cutaneous involvement (sebaceous gland tumor) is associated ...

The Peutz-Jeghers syndrome (PJS) is an autosomal dominant hamartomatous poliposis describred in 1921. Hemminki in 1997 described the presence of LKB-1 mutation tumor-suppressor gen.The patients with PJS develop a higher cumulative incidence of gastrointestinal, pancreas and extraintestinal tumors, being occasion of a renew interest on hamartomatous polyposis syndromes regarding the ...

The somatosensory system is an integral component of the motor control system that facilitates the recognition of location and experience of peripheral stimuli, as well as body part position and differentiation. In chronic pain, this system may be disrupted by alterations in peripheral and cortical processing. Clinical symptoms that accompany ...

BACKGROUND: The diagnosis of Rubinstein-Taybi syndrome (RTS) is primarily clinical and based on the characteristic phenotype that is often combined with a variety of somatic anomalies and psychiatric disorders. SAMPLING AND METHODS: In this paper, a review is presented of the psychiatric and behavioural aspects of RTS. This is illustrated ...

Down syndrome is a complex condition that results from having a third copy of human chromosome 21. People with the syndrome experience problems with learning and memory that affect many aspects of their lives. In this issue of Science Translational Medicine, Salehi et al. report on successful drug treatment of ...

OBJECTIVE: To report a rare presentation of Swyer syndrome in a woman with pure 46,XY gonadal dysgenesis. DESIGN: Case report. SETTING: Academic gynecology and obstetrics department. PATIENT(S): A 28-year-old woman with primary amenorrhea. INTERVENTION(S): Laparoscopic gonadectomy. MAIN OUTCOME MEASURE(S): Age at diagnosis, risk of gonadal malignancy, bone mineral density, uterus ...

In this retrospective case series with historic control subjects, repeat administration of hCG after failure to retrieve oocytes from the first ovary in the setting of unexpectedly low serum hCG levels resulted in unsuccessful IVF outcomes. This represents the largest case series to date regarding repeat administration of hCG in ...

Cyclic vomiting syndrome is an increasingly recognized cause of nausea and vomiting in adults. We report the case of a 47-year-old man with recurrent episodes of intractable nausea and vomiting for one year. His symptoms persisted for 4-7 days and then resolved spontaneously, only to return after periods of time ...

The HGPS (Hutchinson Gilford Progeria Syndrome) is a rare genetic disorder with an incidence of 1 per 8 million live births. Originally described in 1886, less than 100 cases have been reported. The syndrome is characterized by premature aging with changes in many organs. The diagnosis is usually made by ...

The HGPS (Hutchinson Gilford Progeria Syndrome) is a rare genetic disorder with an incidence of 1 per 8 million live births. Originally described in 1886, less than 100 cases have been reported. The syndrome is characterized by premature aging with changes in many organs. The diagnosis is usually made by ...

Eighty years ago, the Austrian neurologist Josef Gerstmann 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 ...

Movement disorders are known to be associated with hyperthyroidism. However, the association of Meige's syndrome and hemichorea with hyperthyroidism has not been reported. We describe a young Chinese woman with hyperthyroidism, who presented with a unique combination of Meige's syndrome and hemichorea in the left limbs. Both neurologic manifestations were ...

Two new studies published in this issue of Developmental Cell by Derivery et al. and Gomez and Billadeau reveal that WASH (Wiskott-Aldrich syndrome protein and SCAR homolog) activates Arp2/3 on endosomes and plays a critical role in the fission of tubules that serve as transport intermediates during endosome sorting.

The immune reconstitution inflammatory syndrome (IRIS) is characterized by clinical deterioration occurring after the initiation of effective antiretroviral therapy (ART) and results from a disordered and exuberant immune response. The syndrome may present as paradoxical IRIS or unmasking IRIS, depending on whether an opportunistic infection was recognized and treated before ...

We report on the combination of biopsy-proven idiopathic livedo reticularis and mononeuropathy multiplex, mild to moderate in severity and remitting-relapsing in course, observed in a young otherwise healthy woman. Neurologic relapses were always accompanied or preceded by exacerbation of the skin lesion. After 18 years followup we did not detect ...

OBJECTIVE: The aim of this article is to present the imaging patterns of ulnocarpal impaction syndrome (Palmer class II lesions) on MDCT arthrography. CONCLUSION: MDCT arthrography is an excellent tool for imaging patients with clinically suspected ulnocarpal impaction syndrome, allowing identification of the spectrum of findings and proper classification according ...