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Ertem Deniz - - 2002
Solitary rectal ulcer syndrome (SRUS) is an unusual disorder of childhood, which usually presents with rectal bleeding, mucous discharge, prolonged straining, tenesmus, and localized pain in the perineal area. After the first description by Cruveilhier, Madigan and Morson further detailed the clinical and pathologic features of SRUS in 1969. The ...
Alfadley Abdullah - - 2002
Keratosis follicularis spinulosa decalvans is a rare, X-linked disorder affecting both the skin and eyes. There are few reports about this entity. The aim of this report is to describe 2 brothers with progressive scarring alopecia of the scalp, hypotrichosis with follicular prominence of the eyelashes, and extensive keratosis pilaris. ...
Teitelbaum J E - - 2002
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome is a rare disorder that presents in childhood; however, marked delay in diagnosis is common. We report a case and review the literature describing the typical features that should alert pediatricians to the diagnosis. We also describe a novel management strategy for providing symptomatic relief.
Rocha Jaime Luis Lopes - - 2002
Vancomycin has been used with increased frequency during the past 15 years and the most common toxicity with this drug is the red man syndrome . Other adverse effects include neutropenia, fever, phlebitis, nephrotoxicity, ototoxicity, thrombocytopenia, interstitial nephritis, lacrimation, linear IgA bullous dermatosis, necrotizing cutaneous vasculitis and toxic epidermal necrolysis. ...
de Paula Rodrigues Giselle Helena - - 2002
The Hutchinson-Gilford progeria syndrome (HGPS) is a very rare, but well known inherited condition of uncertain etiology in which features of premature and accelerated aging are mixed with those of delayed maturity and immaturity. Appearance at birth and birth weight are usually normal but growth typically slows after 1 year. ...
Jenkins Mary - - 2002
PURPOSE: This paper highlights the hemiparkinsonism-hemiatrophy (HPHA) syndrome as a unique presentation of the parkinsonian state. Clinically relevant diagnostic and treatment aspects are reviewed. METHOD: We report a case of HPHA, in a 21-year-old, otherwise healthy, woman. Clinical and radiographic features of our case are presented. We also review the ...
Barbey Jean T - - 2002
CONTEXT: Adverse cardiac events, typically long QT syndrome, have been reported in patients treated with the gastrointestinal prokinetic agent cisapride. OBJECTIVE: To analyze cases of cisapride-associated long QT syndrome and ascertain the degree of confidence in the diagnosis of long QT syndrome and the presence of risk factors. DESIGN: Review ...
Moore Brian A - - 2002
Lemierre's syndrome is characterized by thrombosis of the internal jugular vein that develops following an oropharyngeal infection. Sepsis and septic metastases frequently ensue and affect the lungs, the musculoskeletal system, and occasionally the liver. Most cases are caused by infection with Fusobacterium necrophorum. This infection responds to antibiotic therapy with ...
Favara Blaise E - - 2002
Macrophage activation and secondary hemophagocytic syndrome are rarely reported in association with Langerhans cell histiocytosis (LCH). The authors reviewed their pathology files for cases of LCH in which evidence of macrophage activation coexisted and report 30 such cases indicating that the association is not that rare and may even be ...
Subramanian N - - 2002
Kallmann's syndrome is a neuroendocrine disorder, characterized by hypogonadotropic hypogonadism with hyposmia. We report a 27 year old male who presented with short stature and pain in the lumbar region. On detailed evaluation he had growth retardation, features of hypothalamic hypogonadism as evidenced by endocrimological tests and anosmia since birth. ...
Zakzook S I - - 2002
Hyperviscosity syndrome (HVS) is characterised by high serum viscosity and the involvement of multiple organs, commonly causing retinal haemorrhage, bleeding diathesis, pulmonary hypertension, congestive heart failure (CHF), neurologic deficits and death. It has been reported that HVS is mostly encountered in Waldenström's macroglobulinaemia (80%-90% of all HVS cases) and occasionally ...
Zaytoun George M - - 2002
The oto-palato-digital (OPD) syndrome is a rare but well-defined disorder characterized by a skeletal dysplasia of the hands and feet, hearing loss, and anomalies of the palate. Since it was first described by Taybi in 1962, a little over 30 cases have been reported in the literature. A more lethal ...
Mewasingh Leena D - - 2002
Visual symptomatology in childhood often presents diagnostic difficulties. Recurrent paroxysmal visual complaints, although typically associated with migraine, may also signal other disorders. We describe a 9-year-old partially sighted male with paroxysmal zoopsias resulting from Charles Bonnet syndrome. This condition is characterized by paroxysmal visual hallucinations occurring in patients with chronic ...
Cassidy E M - - 2001
We present the case of a 31-year-old woman with recent refractory bipolar disorder who developed a malignant syndrome preceded by catatonic motor features. This resistant case of lethal catatonia responded selectively to high-dose olanzapine treatment. The case illustrates the need to consider lethal catatonia in apparent cases of neuroleptic malignant ...
Fukuyama Y - - 2001
The West syndrome (WS) is a distinct age-dependent global encephalopathy which encompasses manifold problems of developing brain, and because of this, WS stands out as a symbolic syndrome for child neurology as a whole. It is unanimously recognized that this syndrome was first described by Dr W.J. West of Tunbridge, ...
Lee S - - 2001
Hemifacial hypertrophy is a rare condition characterized by unilateral enlargement of all tissues of the face. We describe three patients who exhibit hemifacial hyperplasia of the muscles of facial expression with no other organ system involvement. These three cases, in addition to six other cases identified in the literature, describe ...
Mathews P V - - 2001
Compartment syndrome in the well leg as a complication of prolonged positioning in a hemilithotomy position is a serious complication that is rarely reported in the orthopaedic literature. A similar entity has been well described in urologic, gynecologic, and general surgery literature but, to the authors' knowledge, has been reported ...
Daly S E - - 2001
A retrospective review of cases at a level I pediatric trauma center from 1995 through 1999 was conducted to identify cases of suspected shaken baby syndrome. Cases were included if the primary diagnosis was associated with shaken baby syndrome, such as retinal hemorrhage or subdural hematoma. The daily temperature and ...
Garcia-Minaur S - - 2001
We report on three European cases of urofacial (Ochoa) syndrome. This entity was originally described in Colombian patients and very few cases have been reported from other countries. It is likely that they may be missed because of variability of the urinary problems and failure to recognize the characteristic facial ...
Bhaskaranand Kumar - - 2001
Three patients with pachydermoperiostosis are reported. All patients presented with moderate pain and swelling in multiple joints unresponsive to treatment, characteristic facial features which were marked in two cases, clubbing of nails and enlargement of distal parts of the extremities. One patient had spondylolisthesis of L5-S1 vertebrae, an association not ...
Mittal D - - 2001
Trichotillomania represents a syndrome of hair pulling in which patients compulsively and ritualistically pluck their hair in response to a sense of tension or urgency. This report documents a case of hair pulling associated with dementia. Neuropsychological testing demonstrated the deficits to be localized predominantly to the frontal lobe dysfunction.
Fleck B J - - 2001
To clarify the phenotypic variability of Coffin-Siris syndrome, we present a review of the literature and 18 new cases. We performed a questionnaire study of patients ascertained through an international support group. Information on their sibs was available for comparison. The most frequent findings include some degree of mental retardation ...
Breuer G S - - 2001
Guillain-Barré syndrome (GBS) is often preceded by an infectious disease. A case of GBS after hepatitis A in a pregnant woman is described. The patient was treated with intravenous immunoglobulin and had full recovery with no neurologic sequelae. She gave birth in term to a healthy baby. This is the ...
Orrico A - - 2001
In this report, we present a 14-year-old girl, born to consanguineous parents, who presented with severe mental retardation, hypotonia, short stature, and congenital joint contractures. The craniofacial features were scaphocephaly, thin/long and immobile face, marked hypoplasia of the midface, temporal narrowness, blepharophimosis, palpebral ptosis, and strabismus. The combination of such ...
Lasch H M - - 2001
Hepatopulmonary syndrome (HPS) is defined by the presence of the triad of liver disease, arterial hypoxemia, and intrapulmonary vascular dilatation. The clinical implication of this disorder is impairment of gas exchange. Numerous reports in the literature show that this condition is reversible with orthotopic liver transplantation (OLT). However, patients with ...
Bradley E - - 2001
We present a case of persistent right umbilical vein with Noonan's syndrome. Persistence of the right umbilical vein with no intrahepatic portion is an uncommon finding with a review of the literature revealing only five other cases. In these cases drainage was directly into the right atrium, inferior vena cava ...
Apostolakis L W - - 2001
BACKGROUND: The nasogastric tube syndrome is a potentially life-threatening complication of an indwelling nasogastric (NG) tube. The syndrome is thought to result from ulceration and infection of the posterior cricoid region with subsequent dysfunction of vocal cord abduction. This dysfunction may present as complete loss of vocal cord abduction manifested ...
Arazi M - - 2001
We report a child with de Barsy syndrome, which is a very rare, genetically transmitted clinical entity associated with mental and growth retardation, severe cutis laxa, joint laxity and various ocular and skeletal system findings. The patient was operated to treat her orthopedic disabilities. Typical findings of this case with ...
Danzer E - - 2000
The authors report the case of a 6-week-old boy with the Smith-Lemli-Opitz-syndrome (SLOS) and review the literature on the subject. Intersexuality was suspected and a laparoscopy performed. Abnormalities of the gastrointestinal tract, the lower extremities, and the face prompted DNA analysis, which found a defect of cholesterol biosynthesis in the ...
Pager C K - - 2000
The short life of Baby P is reviewed. Baby P was an infant girl who was born with hypoplastic left heart syndrome and died at the age of 30 days. Effective, aggressive surgical treatment for this condition is rapidly developing in some countries, but is rarely available or successful in ...
Gurwood A S - - 2000
BACKGROUND: Duane's retraction syndrome (DRS), also known as Stilling-Turk-Duane syndrome, is defined as a congenital miswiring of the lateral and medial recti muscles, resulting in an impaired ocular motility syndrome that includes palpebral fissure narrowing. The incidence of DRS is approximately 1% of the total cases of strabismus. Eighty percent ...
Wynants H H Institute of Tropical Medicine, Nationalestraat 155, 2000 Antwerp, - - 2000
Severe eosinophilia may be complicated by acute or chronic visceral damage. The underlying origin of the hypereosinophilia may be infectious, allergic, toxic, malignant or systemic (the secondary or reactive hypereosinophilic syndrome), but in a number of cases no cause can be found (the idiopathic hypereosinophilic syndrome). We describe 4 cases ...
Nafday SM - - 2000
A 15-year-old Indian boy from Guyana presented with episodes of syncope for past 4 years. Klippel-Trenaunay was entertained based on presence of capillary hemangioma and gross venous malformation of left leg. Unusual features noticed were "orthostatic hypotension as a presentation," atrophy of leg as contrasted to common finding of hypertrophy, ...
Lascar T - - 2000
Fifty-three cases of cubital tunnel syndrome were treated by anterior subcutaneous transposition of the ulnar nerve. All patients were assessed by an independent examiner at a mean follow-up of 32 months. McGowan's rating scale, as modified by Goldberg, was used preoperatively and at follow-up. Preoperatively, five cases were classified grade ...
Sathasivam S - - 2000
We describe a case of the Brown-Vialetto-Van Laere syndrome, which is a rare disorder characterized by progressive pontobulbar palsy associated with sensorineural deafness. More than 30 cases have been reported since the first case was described in 1894. We review the literature of this condition, comparing our case with those ...
Larrègue M - - 2000
Olmsted syndrome is a rare keratinization disorder; 18 cases have been published so far. It associates a mutilating cogenital palmoplantar keratoderma with periorificial erythematokeratotic lesions. We report herein two new unrelated male children with Olmsted syndrome (OS), one of whom was studied by light and electron microscopy. Our histological, immunohistochemical, ...
Azar T - - 2000
We present a case of a young boy with clinical manifestations of lacrimo-auriculo-dental-digital syndrome (LADD) with the additional finding of a hypoplastic epiglottis that caused airway obstruction at birth. We also reviewed the 30 cases of LADD that have been reported since 1967. It is a rare syndrome that includes ...
Védie C - - 2000
The authors describe the cases of three patients presenting a major extrapyramidal symptom with rising CPK, inconstant hyperthermia and autonomic dysfunction. Through a brief review of the literature, the authors question the unity of the malignant syndrome. If hypertonia is quite constant, the rise in the seric CPK is aspecific ...
Marques-de-faria A P - - 2000
We report a male infant with an association of hypothyroidism and unusual facies, including blepharophimosis, which is similar to the dysmorphic features observed in the condition first described by Young and Simpson [(1987) J Med Genet 24:715-7161. On the other hand, the patient also shares many features with those reported ...
Kapoor A - - 2000
Chediak Higashi anomaly is a very rare disorder in which patients suffer frequent and severe pyogenic infections that are secondary to abnormal functions of polymorphonuclear leukocytes, associated with albinism and bleeding tendency. Blume RS and Wolff SM (1972) reported that only 59 cases were diagnosed after the first description of ...
Kent D - - 2000
PURPOSE: Antiphospholipid syndrome (APS), as an acquired prothrombotic disorder, is increasingly being recognised as an important cause of systemic venous and arterial thrombosis. The defining feature of the condition is the presence of raised levels of antibodies to negatively charged phospholipids in the serum. METHODS: We describe 2 cases of ...
Lees M - - 2000
We describe the clinical findings in two previously unreported, unrelated cases with aplasia cutis congenita and epibulbar dermoids, similar to the cases reported by Toriello et al. [1993]. In addition, one patient had bladder exstrophy with epispadias. These cases provide further evidence for the identification of the oculo-ectodermal syndrome as ...
Hisham A N - - 2000
Hungry bone syndrome (HBS) following successful parathyroid surgery is a well described phenomenon. However, few studies have clearly addressed this syndrome or looked at the outcome of perioperative management. We report a case of HBS following successful parathyroid surgery. The perioperative management is discussed and literature pertaining to this interesting ...
Kluijt I - - 2000
Six cases of Kabuki syndrome (KS) with ocular anomalies are reported and the variety of ocular features reported in the literature for this syndrome is described. Routine ocular examinations are recommended for every patient with KS because of the high proportion of ocular anomalies found in these patients, the presence ...
Miller M K - - 2000
Using case reports and a review of the literature, the clinical features of envenomation by the genus of Australian funnel web spiders known as Hadronyche, are characterised. Five cases are reported here, including the first life-threatening envenomation by Hadronyche species 14 (the Port Macquarie funnel web). Two severe envenomations by ...
Satko S G - - 2000
Immunoglobulin A (IgA) nephropathy is the commonest type of primary glomerulonephritis worldwide. It has previously been reported in association with the seronegative spondyloarthropathies (ankylosing spondylitis, Behcet's syndrome, psoriatic arthritis, Reiter's syndrome and the postenteritic arthritides). Since this condition was first described in 1968, 5 previous case reports of biopsy-proven IgA ...
Litvyakova L I - - 2000
BACKGROUND AND CONCLUSION: A case of a 41-year-old patient with a 5-year history of chronic recurrent angioedema, refractory to conservative treatment is presented. The results of the case report suggest that in differential diagnosis of angioedema, in addition to usual causes, the allergist-immunologist needs to consider Melkersson-Rosenthal syndrome, which can ...
Ayache D - - 2000
Microangiopathy of the inner ear, retina, and brain was first described in 1979 by John O. Susac. Since then, approximately 60 cases have been reported. Otolaryngologists must be aware of this syndrome, in which cochleovestibular symptoms are an important part of the diagnosis. In this article, we report a new ...
Barakat K - - 2000
Although transvenous pacing is a safe treatment modality for bradyarrhythmias, serious thrombotic and embolic complications are reported to occur in 0.6-3.5% of cases. We describe 5 cases of pacemaker-associated thrombosis, 3 with a superior vena cava syndrome (SVC), 1 with an axillary vein thrombosis and 1 with a thrombus attached ...
Danon O - - 2000
Rhombencephalosynapsis is an unfrequent malformation of the posterior fossa essentially characterized by vermian agenesis or hypogenesis, fusion of the cerebellar hemispheres and fusion of the dentate nuclei. Supratentorial abnormalities are usually associated. No specific clinical syndrome can be described in relation with this disorder. We report a case diagnosed by ...
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