Anaplastic large cell lymphoma (ALCL), anaplastic lymphoma kinase (ALK)-positive, is uncommon in infancy. We present an unusual occurrence of infant ALCL, ALK-positive, associated with hemophagocytic syndrome. To the best of our knowledge, there have been no cases of infant ALCL, ALK-positive, described that have been associated with hemophagocytic syndrome. Particularly ...

PURPOSE: Parry-Romberg syndrome (PRS) is a rare disease of unknown etiology and pathogenesis, characterized by progressive hemifacial atrophy. Diverse ocular manifestations were reported in association with PRS, including enophthalmos, lid retraction, blepharoptosis, restrictive strabismus, ocular motor nerve dysfunction, Horner syndrome, reduced corneal sensitivity, band keratopathy, episcleritis, uveitis, neuroretinitis, and retinal ...

Transient left ventricular dysfunction syndrome (TLVDS), or Tako-Tsubo cardiomyopathy (TC), is a clinical entity in which patients present with features of acute coronary syndrome, electrocardiogram abnormalities, and transient left ventricular (apical or mid-ventricular) dysfunction. Patients usually recover from this condition four to six weeks after the event. The etiology or ...

OBJECTIVE: To describe the first reported case of a patient with POEMS syndrome (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes) in conjunction with the endocrinologic manifestation of panhypopituitarism due to a large clinically nonfunctioning pituitary adenoma. METHODS: We present the clinical, laboratory, and radiologic details of the case and ...

Floating-Harbor syndrome is a rare syndrome of unknown etiology, which was first described in 1973. A triad of main features characterizes Floating-Harbor syndrome: short stature, characteristic face, and an expressive speech delay. We present a patient in whom the hearing thresholds improved insufficiently after placement of grommets. High-resolution CT scan ...

Floppy eyelid syndrome is a distressing condition that can cause significant morbidity and vision loss. Many systemic and ocular associations have been proposed, most notably keratoconus and obstructive sleep apnea-hypopnea syndrome. Although conservative treatments can sometimes be effective, a wide variety of surgical treatments to tighten the upper eyelid have ...

Introduction. Nail-patella syndrome (NPS) is a rare genetic disorder that is characterized by a pleiotropic malformation affecting the nail, the skeleton, and occasionally the central nervous system and the kidneys. Case Presentation. We report two paediatric cases, which are of two sisters, who aged, respectively, two and five years. They ...

The DiGeorge Syndrome was first described in 1968 as a primary immunodeficiency resulting from the abnormal development of the third and fourth pharyngeal pouches during embryonic life. It is characterized by hypocalcemia due to hypoparathyroidism, heart defects, and thymic hypoplasia or aplasia. Its incidence is 1:3000 live births and, despite ...

Acute septic thrombophlebitis of the internal jugular vein (IJV), better known as Lemierre syndrome, is a rare entity which poses several challenges in management. Treatment involves prompt use of intravenous antibiotics over a prolonged period of time, typically 6-8 weeks. The use of anticoagulation is controversial, but indicated for some. ...

Macular edema (ME) and choroidal neovascularization (CNV) can complicate the course of several inflammatory chorioretinal diseases, leading to a severe visual function impairment. The most frequently involved clinical entities include for example multifocal choroiditis, presumed ocular histoplasmosis syndrome, Beçhet's disease, multiple evanescent white dot syndrome, birdshot chorioretinopathy, acute multifocal posterior ...

The finding of intraoral telangiectasias in two patients previously diagnosed with Raynaud disease is reported. Neither patient exhibited any other feature of CREST syndrome, namely, calcinosis cutis, esophageal dysfunction, or sclerodactyly. To the authors' knowledge, this is the first time intraoral telangiectasias has been reported in conjunction with Raynaud disease ...

Objective. This report describes a severe case of hyperglycemic hyperosmolar syndrome complicated by rhabdomyolysis, acute kidney injury, hyperthermia, and hypovolemic shock, with management centred upon fluid administration. Design. Case report. Setting. Pediatric intensive care unit in university teaching hospital. Patients. 12 years old adolescent female presenting with hyperglycemic hyperosmolar syndrome ...

Alagille syndrome is largely unknown to the general internist because the diagnosis is usually made by a paediatrician. Nevertheless, it is important to be aware of this syndrome because it sometimes manifests later in life with a great variability in clinical presentation and important consequences for the individual patient. We ...

Juvenility was previously defined as a distinct clinical life history stage, characterized by adrenarche, decelerating growth and accelerating adiposity. This review presents the theory of evolutionary predictive adaptive strategies for premature juvenility in response to (mostly) energy supply, but also to other environmental cues. In the absence of longitudinal adrenal ...

It is remarkable to uncover a new aspect of congenital epibulbar solid dermoids and lipodermoids. We describe a dramatic central epicorneal polypoidal lipodermoid coloboma accompanied by an upper eyelid coloboma that was not associated with Goldenhar syndrome. Histopathologically the excised lesion displayed superficial layers of epidermis and a thin dermis ...

Purpose. Collet-Sicard syndrome is a very rare condition characterised by unilateral palsy of the IX-XII cranial nerves. It is distinguished from Villaret syndrome by lack of presence of sympathetic involvement. Current literature contains only two cases of Collet-Sicard syndrome due to idiopathic internal jugular vein thrombosis. Method and Results. We ...

Acute kidney injury (AKI) is a common clinical syndrome defined as a sudden onset of reduced kidney function manifested by increased serum creatinine or a reduction in urine output. This clinical syndrome has been called by 25 different names and at least 35 definitions. As a result of this deficiency ...

Mucocutaneous papillomas can be manifestations of an autosomal dominant condition known as Cowden syndrome (CS). We report the case of a 22-year-old man with oral and cutaneous papules and a past history of thyroid malignancy. It is important to recognize oral manifestations of CS; they can lead to early diagnosis ...

The patient with Capgras' syndrome claims that people very familiar to him have been replaced by impostors. I argue that this disorder is due to the destruction of a representation that the patient has of the mind of the familiar person. This creates the appearance of a familiar body and ...

We present here two girls with cystinosis initially diagnosed as Bartter syndrome. Both cases were admitted with hypokalemic, hypochloremic alkalosis. Their proximal tubular functions, ophthalmologic and bone marrow examinations were normal. They were started on therapies with the diagnosis of Bartter syndrome. The first patient developed signs of rickets, and ...

SUMMARY: In patients with Down syndrome, cancers like leukemia and testicular tumors are frequent, but association with central nervous system tumors is rare. Only 1 case of ependymoma has been observed as an incidental autopsy finding in a 19-week-old female fetus. We herein report the second case of ependymoma and ...

Macrophage activation syndrome in rheumatological disorders is rare. A 3-year-old girl with incomplete Kawasaki disease complicated by macrophage activation syndrome is reported.

Overlap syndrome has been introduced to the field of hepatology to describe the coexistence of two or more autoimmune hepatic conditions in the same individual. This is a rare clinical case of a patient diagnosed with primary biliary cirrhosis (PBC) who later developed primary sclerosing cholangitis (PSC). This is a ...

OBJECTIVE: Wyburn-Mason syndrome is a rare disease associated with multiple arteriovenous malformations of the brain, orbit, and face resulting from an insult occurring during embryonic development. CASE REPORT: We present the clinical and radiological features of a 47-year-old-man with Wyburn-Mason syndrome who suffered from recurrent bleeding episodes primarily at the ...

Williams syndrome is a complex syndrome characterized by developmental abnormalities, craniofacial dysmorphic features, and cardiac anomalies. Sudden death has been described as a very common complication associated with anesthesia, surgery, and procedures in this population. Anatomical abnormalities associated with the heart pre-dispose these individuals to sudden death. In addition to ...

The yellow nail syndrome is an uncommon condition characterised by dystrophic nails, pulmonary disturbances and lymph oedema. In Brazil as well as in India, this syndrome has been scarcely described, at least in part due to diagnosis pitfalls related with darker skin pigmentation. A case of adnexal malignancy developing several ...

Restless legs syndrome (RLS) is one of the most common neurological disorders. The diagnosis is mainly based on the patient's report of the characteristic symptoms and further on the response to dopaminergic treatment. In the past years, transcranial B-Mode sonography (TCS) of the mesencephalic brainstem has been introduced as a ...

A 24-year-old woman presented with right face pain and blurry vision. Examination revealed right pupil-sparing third nerve palsy and decreased sensation in the second and third divisions of the right trigeminal nerve. MRI demonstrated right cavernous sinus enhancement. Infectious, rheumatologic, and neoplastic evaluation was negative, and the patient was diagnosed ...

A 10-month-old Chinese boy presented with delayed motor development for seven months. Blood and biochemistry investigations revealed no abnormalities. The physical examination showed poor postnatal growth (below -2 standard deviation from the mean at diagnosis), preservation of the occipitofrontal head circumference with delayed closure of the anterior fontanel, a classical ...

A ureteral stump, which is the segment of the ureter left in place after nephrectomy, may occasionally give rise to a pathologic process called ureteral stump syndrome, which is clinically interpreted as febrile urinary tract infections, lower quadrant pain, and hematuria. Empyema of the ureteral stump, which belongs to this ...

OBJECTIVE: To report a case of refeeding syndrome in a Kuwaiti child, its clinical presentation and management. CLINICAL PRESENTATION AND INTERVENTION: A 13-month-old Kuwaiti boy presented with acute severe malnutrition in the form of marasmic kwashiorkor. On admission, blood sugar and serum electrolytes were normal but on the 3rd day ...

The platypnea-orthodeoxia syndrome is a rare clinical presentation. The differential diagnosis is short and includes cardiac, hepatic, and pulmonary causes, with right-to-left intracardiac shunt being the most common. A secondary process is usually present in conjunction with an intracardiac shunt in order for platypnea and orthodeoxia to develop. We present ...

Growth hormone insensitivity syndrome, also known as Laron syndrome, is an autosomal recessive disorder caused by defects the of growth hormone receptor gene and may lead to increased growth hormone levels. This syndrome's main clinical features are: dwarfism; acromicria; organomicria; cervical spinal stenosis; early osteoarthritic changes of the atlantoaxial joint; ...

Here we report the association of giant aplasia cutis congenita in a newborn black male with Goltz syndrome. The cutis aplasia defect is extensive and circonscript at the vertex. The cerebral structures are visible through the lesions. In addition, the patient has a low birth weight, syndactyly, adactyly, cutaneous atrophy, ...

The glucagonoma syndrome is a rare disorder, characterized by necrolytic migratory erythema, elevated serum glucagon levels, abnormal glucose tolerance, weight loss, and anemia in association with a glucagon-secreting alpha-cell tumor of the pancreas. We present a 67-year-old diabetic patient with extensive cutaneous lesions, weight loss, and poor glycemic control. The ...

Laugier-Hunziker syndrome is a rare benign condition characterized by diffuse oral hyperpigmentation associated with pigmentation of the nails. The syndrome must be included in the differential diagnosis of diffuse oral pigmentation to exclude other conditions with systemic implications. We describe a 43-year-old white woman with the clinical and histological features ...

The authors describe the frequency and characteristics of Cotard syndrome among neurological and psychiatric inpatients at a tertiary referral center. All inpatients from the National Institute of Neurology of Mexico (March 2007-May 2009) requiring neuropsychiatric consultation were reviewed. Among 1,321 inpatient consultations, 63.7% had neurological disease and one (0.11%) had ...

Lemierre syndrome, which can result from a recent oropharyngeal or odontogenic infection, is characterized by clinical or radiographic signs of thrombosis of the internal jugular vein, distant infected emboli and the presence of anaerobic pathogens, usually Fusobacterium necrophorum. The septic emboli resulting from the infected thrombophlebitis of the internal jugular ...

BACKGROUND: Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis has been recently reported as autoimmune/paraneoplastic encephalitis, affecting mostly young females. OBJECTIVE: To describe opsoclonus-myoclonus syndrome in association with anti-NMDAR antibodies. DESIGN: Case report. SETTING: Geneva University Hospital. Patient A 23-year-old woman with opsoclonus-myoclonus syndrome. RESULTS: Two weeks after an episode of gastroenteritis, the patient ...

Ataxia-telangiectasia (A-T) is a complex multisystem disorder characterized by progressive neurological impairment, variable immunodeficiency and oculo-cutaneous telangiectasia. A-T is a member of chromosomal breakage syndromes and it is caused by a mutation in the ataxia-telangiectasia mutated (ATM) gene. Because of a wide clinical heterogeneity, A-T is often difficult to diagnose ...

BACKGROUND: Vohwinkel syndrome or keratoderma hereditaria mutilans is a rare autosomal dominant palmoplantar keratosis which manifests in infants and becomes more evident in adulthood. Patients with this mutation present hyperkeratosis of the palms and soles, constricting bands of the digits, usually at the fifth, and starfish-shaped hyperkeratosis on the dorsal ...

Gorlin syndrome, also known as Basal Cell Nevus Syndrome (BCNS), is a rare autosomal dominant disorder with complete penetrance and variable expressivity. This syndrome is characterized by developmental anomalies, such as odentogenic keratocysts of the mandible and postnatal tumors, especially multiple basal cell carcinomas (BCCs). The prevalence of this syndrome ...

Swyer James syndrome is a rare condition clinically characterized by bronchiolitis and pneumonitis early in life. A 2 year old girl referred to us with complaints of wheezing, chronic cough and fever since birth time. Based to her clinical symptoms and radiograph and CT scan findings, diagnosis of Swyer James ...

We provided clinical and electrical descriptions of the piriformis syndrome, contributing to better understanding of the pathogenesis and further diagnostic criteria. Between 3550 patients complaining of sciatica, we concluded 26 cases of piriformis syndrome, 15 females, 11 males, mean age 35.37 year-old. We operated 9 patients, 2 to 19 years ...

BACKGROUND: Spontaneous rupture of the esophagus (Boerhaave's syndrome) is a rare, well-defined clinical syndrome caused by a longitudinal perforation of the esophagus. It is a life-threatening condition that necessitates rapid diagnosis and treatment. Patients typically present acutely with a history of vomiting followed by chest or abdominal pain. However, the ...

Psychiatric disorders in primary Sjögren's syndrome constitute a possible clinical reality that each practitioner must be able to recognise and treat. In this article, two case reports of mental disorder as clinical presentation of primary Sjögren's syndrome are presented, suggesting that psychiatric manifestations in primary Sjögren's syndrome can occur not ...

The Rapunzel syndrome is an unusual form of trichobezoar found in patients with a history of psychiatric disorders, trichotillomania (habit of hair pulling) and trichophagia (morbid habit of chewing the hair), consequently developing gastric bezoars. The principal symptoms are vomiting and epigastric pain. In this case report, we describe this ...

The Kearns-Sayre syndrome is a mitochondrial disorder (generally due to mitochondrial DNA deletions) that causes ophthalmoplegia, retinopathy, ataxia and brain abnormalities such as leukoencephalopathy. In this syndrome, the choroid plexus epithelial cells, unlike brain cells, are greatly enlarged and granular, consistent with their inability to adequately transport folate from blood ...

Some patients awaken from coma (that is, open the eyes) but remain unresponsive (that is, only showing reflex movements without response to command). This syndrome has been coined vegetative state. We here present a new name for this challenging neurological condition: unresponsive wakefulness syndrome (abbreviated UWS). Many clinicians feel uncomfortable ...

Stiff limb syndrome is a clinical feature of the stiff person syndrome, which is a rare and disabling neurologic disorder characterized by muscle rigidity and episodic spasms that involve axial and limb musculature. It is an autoimmune disorder resulting in a malfunction of aminobutyric acid mediated inhibitory networks in the ...