MyChart Login. Savant Syndrome Savant syndrome is a rare condition in which persons with various developmental disorders, including autistic disorder, have an amazing ability and talent.
How common is savant syndrome? What causes savant syndrome? What is the range of savant skills? Savant skills exist over a spectrum of abilities. The most common savant abilities are called splinter skills. These include behaviors such as obsessive preoccupation with, and memorization of, music and sports trivia, license plate numbers, maps, historical facts, or obscure items such as vacuum cleaner motor sounds, for example.
Talented savants are those persons in whom musical, artistic, mathematical or other special skills are more prominent and highly honed, usually within an area of single expertise, and are very conspicuous when viewed against their overall handicap. The term prodigious savant is reserved for those very rare persons in this already uncommon condition where the special skill or ability is so outstanding that it would be spectacular even if it were to occur in a non-handicapped person.
There are probably fewer than 75 prodigious savants living worldwide at the present time who would meet this high threshold of special skill.
What are typical savant skills? Musical Talent. Artistic Talent. Calendar Calculating. Other Skills. The special skills and abilities the savant demonstrates, however, can be used as a useful tool in the overall treatment and rehabilitation efforts directed toward overcoming or lessening the handicaps from the more basic developmental disorder, injury or disease.
In many cases those extraordinary abilities can be used as a way of engaging the handicapped person in improved communication capacity, improved social interaction, and improved mastery of even daily living skills with movement, than, toward greater independence overall.
Each of those leads, then, to greater independence overall. Your email address will not be published. Save my name, email, and website in this browser for the next time I comment. Your Name. Your Email. They present with symptoms, often quite severe in the neonatal period. Patients with classic Bartter syndrome type 3 present later in life and may be sporadically asymptomatic or mildly symptomatic.
The severe, steady-state hypokalemia in Bartter syndrome and Gitelman syndrome may abruptly become life-threatening under certain aggravating conditions.
Clinicians need to be cognizant of such renal tubular disorders, and promptly treat at-risk patients. Gorlin-Goltz Syndrome. Full Text Available Gorlin-Goltz syndrome , also known as basal cell nevus syndrome , is an uncommon autosomal dominant inherited disorder characterized by numerous basal cell carcinomas, odontogenic keratocysts, and musculoskeletal malformation.
It is occasionally associated with aggressive basal cell carcinoma and internal malignancies. Hence, present a case report and a review of Gorlin-Goltz syndrome. Proteomic and genomic characterization of a yeast model for Ogden syndrome. Ser37Pro variant in NAA Stress tests and proteomic analyses suggest that the S37P mutation disrupts Naa10 function and reduces cellular fitness during heat shock, possibly owing to dysregulation of chaperone expression and accumulation.
Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness. X-linked syndromes associated with developmental delay and sensorineural hearing loss SNHL have been characterized at the molecular level, including Mohr-Tranebjaerg syndrome and Norrie disease. In this study we report on a novel X-linked recessive, congenital syndrome in a family with developmental delay and SNHL that maps to a locus associated with mental retardation MR for which no causative gene has been identified.
The X-linked recessive inheritance and congenital nature of the syndrome was confirmed by detailed clinical investigation and the family history. Linkage mapping of the X-chromosome was conducted to ascertain the disease locus and candidate genes were screened by direct sequencing and STRP analysis. The recessive syndrome was mapped to Xp The choroideremia CHM gene was also screened and a novel missense change was identified. Prenylation of Rab proteins was investigated in patients and the location of REP-1 expression in the brain determined.
Although the causative gene at the MR locus in this family has not been identified, there are a number of genes involved in syndromic and nonsyndromic forms of MR that are potential candidates.
Copyright Wiley-Liss, Inc. Cross- syndrome comparisons offer an important window onto understanding heterogeneity in mathematical learning disabilities or dyscalculia. The present study therefore investigated symbolic numerical magnitude processing in two genetic syndromes that are both characterized by mathematical learning disabilities: Turner syndrome and 22q Using an innovative approach, data were gathered from a prodigious musical savant Derek Paravicini, who attempted to reproduce a novel composition on the piano at the same time as hearing it.
The piece was designed to minimise the impact of expectations that may arise from patterns within groups of notes and those that may be perceived as a consequence of tonality, whereby different pitch transitions are felt to occur with different probabilities according to their level of past exposure.
The design of the study was informed by zygonic theory Ockelford, , b, which holds that expectation in music is attributable to the capacity of structural regularities to suggest future continuations, whose perceived likelihood of occurrence, it is believed, is proportional to the number of ways in which their existence is implied in what has gone before. It was hypothesised that the higher the implication factor, the more likely Derek would predict its occurrence and therefore play it correctly at the appropriate point in time.
Establishment and characterization of Roberts syndrome and SC phocomelia model medaka Oryzias latipes. The medaka mutant carrying the homozygous mutation at R80S in the conserved region of ESCO2 exhibited clinical variety i. Moreover, widespread apoptosis and downregulation of some gene expression, including notch1a, were detected in the R80S mutant.
Goldenhar Syndrome in Association with Duane Syndrome. Duane retraction syndrome DRS is a congenital disorder of ocular motility characterized by limited abduction, adduction or both. Keywords: Duane retraction syndrome ; goldenhar syndrome , refractive error.
Research note: exceptional absolute pitch perception for spoken words in an able adult with autism. Autism is a neurodevelopmental disorder, characterised by deficits in socialisation and communication, with repetitive and stereotyped behaviours [American Psychiatric Association Diagnostic and statistical manual for mental disorders 4th ed.
Whilst intellectual and language impairment is observed in a significant proportion of diagnosed individuals [Gillberg, C. The biology of the autistic syndromes 3rd ed. Autistic disorder. Barkley Eds. New York: Guildford Press], the disorder is also strongly associated with the presence of highly developed, idiosyncratic, or savant skills [Heaton, P. Journal of Child Psychology and Psychiatry, 45 5 , ]. We tested identification of fundamental pitch frequencies in complex tones, sine tones and words in AC, an intellectually able man with autism and absolute pitch AP and a group of healthy controls with self-reported AP.
The analysis showed that AC's naming of speech pitch was highly superior in comparison to controls. The results suggest that explicit access to perceptual information in speech is retained to a significantly higher degree in autism. Kallmann syndrome and ichthyosis: a case of contiguous gene deletion syndrome. Full Text Available Kallmann syndrome is a genetically heterogeneous form of hypogonadotropic hypogonadism caused by gonadotropin-releasing hormone deficiency and characterized by anosmia or hyposmia due to hypoplasia of the olfactory bulbs; osteoporosis and metabolic syndrome can develop due to longstanding untreated hypogonadism.
Kallmann syndrome affects 1 in 10 men and 1 in 50 women. Defects in 17 genes, including KAL1, have been implicated. Kallmann syndrome can be associated with X-linked ichthyosis, a skin disorder characterized by early onset dark, dry, irregular scales affecting the limb and trunk, caused by a defect of the steroid sulfatase gene STS. We report the case of a year-old man with ichthyosis referred for evaluation of excessive height 2. We diagnosed Kallmann syndrome with ichthyosis due to a deletion in Xp Wolf-Hirschhorn 4p- syndrome with West syndrome.
Wolf-Hirschhorn syndrome WHS is a chromosome disorder 4p- syndrome which is characterized by craniofacial features and epileptic seizures. Here, we report a case of WHS with West syndrome , in whom the seizures were refractory to several antiepileptic drugs but were responsive to the addition of lamotrigine.
The patient had epileptic spasms at age seven months. The interictal electroencephalogram was hypsarrhythmic. After adding lamotrigine, seizures decreased remarkably, and spasms disappeared. We have identified and described the very rare case of a girl with WHS who also developed West syndrome. In this case, adding lamotrigine to her medications effectively treated the spasms.
Revesz syndrome. Full Text Available Revesz syndrome is a rare variant of dyskeratosis congenita and is characterized by bilateral exudative retinopathy, alterations in the anterior ocular segment, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation, bone marrow failure, cerebral calcification, cerebellar hypoplasia and psychomotor retardation.
Few patients with this syndrome have been reported, and significant clinical variations exist among patients. This report describes the first Brazilian case of Revesz syndrome and its ocular and clinical features.
Genetics Home Reference: Usher syndrome. Description Usher syndrome is a condition characterized by partial or total Antiphospholipid syndrome is characterized by venous or arterial thrombosis, foetal loss and positivity of antiphospholipid antibodies, namely lupus anticoagulant, anticardiolipin antibodies and anti-beta2-glycoprotein I. Anticardiolipin antibodies was reported in auto-immune thyroid disorders, particularly in Grave's disease.
Antiphospholipid syndrome associated to Grave's disease was reported in only three cases. To describe a case report of association of Grave's disease and antiphospholipid syndrome.
We report the first case of Grave's disease associated with antiphospholipid syndrome , revealed by Budd Chiari syndrome. Our observation is particular by the fact that it is about a patient presenting a Grave's disease associated with antiphospholipid syndrome revealed by Budd Chiari syndrome. This triple association has never been reported in literature. Although association between antiphospholipid syndrome and Grave's disease was previously described, further studies evaluating the coexistence of these two affections in the same patient would be useful.
Characterization of symptoms and edema distribution in premenstrual syndrome. Physiotherapy is often sought by many patients for the treatment of edema; however, for an adequate prescription of physiotherapeutic procedures, the distribution of edema throughout the body has yet to be characterized.
Objective: To determine the most frequent symptoms and body regions that present with edema in women during the premenstrual period.
Subjects and methods: Sixty women with a mean age of Results: Premenstrual syndrome was identified in Edema was detected in the following areas: facial, epigastric, mammary, umbilical, and pubic, the mid-third of the arms, distal forearm, in both thighs and in the mid-third of the legs determined by circumference measurements, and in both upper and lower limbs, according to the estimated volume. Conclusion: In this study population, the most frequent symptoms were irritability, physical symptoms, and anxiety, with distribution of edema in the face, breast, abdomen, pubic area, distal.
While a great deal of research has been conducted on prodromal risk syndromes in relation to help-seeking individuals who present to the clinic, there is a lack of research on prodromal risk syndromes in the general population.
The current study aimed first to establish whether prodromal risk syndromes could be detected in non-help-seeking community-based adolescents and secondly to characterize this group in terms of Axis-1 psychopathology and general functioning. Between 0. As any other delusional disorder, the Capgras syndrome is characterized by stability despite the indisputable arguments against fault views.
Initially, this syndrome was considered as a presentation of schizophrenia but later it has been described in brain organic disorders, primarily in elderly patients with dementia. Identification and characterization of a novel XK splice site mutation in a patient with McLeod syndrome.
McLeod syndrome is a rare X-linked neuroacanthocytosis syndrome with hematologic, muscular, and neurologic manifestations. McLeod syndrome is caused by mutations in the XK gene whose product is expressed at the red blood cell RBC surface but whose function is currently unknown. A variety of XK mutations has been reported but no clear phenotype-genotype correlation has been found, especially for the point mutations affecting splicing sites.
A man suspected of neuroacanthocytosis was evaluated by neurologic examination, electromyography, muscle biopsy, muscle computed tomography, and cerebral magnetic resonance imaging. The McLeod RBC phenotype was disclosed by blood smear and immunohematology analyses and then confirmed at the biochemical level by Western blot analysis.
This is the first reported example of a XK point mutation affecting the 3' acceptor splice site of Intron 1, and it was demonstrated that this mutation indeed induces aberrant splicing of XK RNA and lack of XK protein at the RBC membrane. The detailed characterization at the molecular biology level of this novel XK splice site mutation associated with the clinical description of the patient contributes to a better understanding of the phenotype-genotype correlation in the McLeod syndrome.
Duane retraction syndrome type 1 with Usher syndrome type 2: an unreported association. Duane retraction syndrome is characterized by globe retraction and palpebral fissure narrowing on adduction, with restriction of abduction, adduction, or both. Usher syndrome type 2 consists of congenital bilateral sensorineural hearing loss and retinitis pigmentosa.
The authors present a case with a yet unreported association between Duane retraction syndrome type 1 and Usher syndrome type 2. Gorlin-goltz syndrome. Multiple jaw cysts are a characteristic manifestation of basal cell nevus Gorlin syndrome. Gorlin-Goltz syndrome is characterized by symptoms primarily involving the skin, central nervous system, and skeletal system. This patient showed recurrent jaw and maxillary cysts, for which he was followed for 2 years. Roberts-SC syndrome , a rare syndrome and cleft palate repair.
Full Text Available Roberts SC syndrome is a rare syndrome with only 17 previously recognized patients reported in medical literature. The syndrome is characterized by multiple malformations, particularly, symmetrical limb reduction, craniofacial anomalies such as bilateral cleft lip and palate, micrognathia, and severe growth and mental retardation. Our patient, a young child of five years having Roberts-SC, was successfully operated for cleft palate under general anesthesia.
The main features of the syndrome and the technical problems of anesthesia and surgery are discussed in this report. Urofacial syndrome. Full Text Available The urofacial syndrome is characterized by functional obstructive uropathy asso-ciated with an inverted smile.
The importance of the subject is that it sheds light, not only on the muscles of facial expression, but also on the inheritance of voiding disorders and lower urinary tract malformations. We report a year-old-male patient who had the urofacial syndrome. Early diagnosis of the urofacial syndrome is important to avoid upper urinary tract damage and renal failure.
Renal involvement in primary antiphospholipid syndrome. The kidney is a major target organ in both primary and secondary antiphospholipid syndrome. This review describes several aspects of the renal involvement in the primary form of the syndrome , in particular the histological pattern of the so-called antiphospholipid syndrome nephropathy APSN.
APSN is a vascular nephropathy characterized by small vessel vaso-occlusive lesions associated with fibrous intimal hyperplasia of interlobular arteries, recanalizing thrombi in arteries and arterioles, and focal atrophy, a constellation of morphological lesions suggestive of primary antiphospholipid syndrome. Ambras syndrome.
Full Text Available Ambras syndrome , a form of congenital hypertrichosis lanuginosa, is extremely rare in neonates. It is characterized by typical pattern of hair distribution, dysmorphic facial features and a familial pattern of inheritance. We report a case of Ambras syndrome in a preterm neonate with history of consanguinity and positive family history. The human deafness-pigmentation syndromes , Waardenburg syndrome WS type 2a, and Tietz syndrome are characterized by profound deafness but only partial cutaneous pigmentary abnormalities.
Both syndromes are caused by mutations in MITF. These findings may provide insight into the mechanism of melanocyte and hearing loss in human deafness-pigmentation syndromes such as WS and Tietz syndrome and illustrate differences between otic and follicular melanocytes. Lemierre's syndrome. This is a systematic review of cases with Lemierre's syndrome LS in the past 5 years.
LS is characterized by sepsis often evolving after a sore throat or tonsillitis and then complicated by various septic emboli and thrombosis of the internal jugular vein. LS in this day and age appears to be low, however the syndrome is difficult to recognize, and still requires the full attention of the clinician Symptoms include sepsis, pain, and Laboratory findings show elevated infectious parameters and radiological findings show thrombosis of the internal jugular vein and emboli in the lungs or other organs.
The syndrome is often associated with an infection with Fusobacterium Klippel-Feil Syndrome. View Full Definition Treatment Treatment for Klippel-Feil Syndrome is symptomatic Foix-Chavany syndrome. The Foix-Chavany syndrome is a neurological entity characterized by linguo-bucco-facial apraxia almost always caused by disturbed cerebral circulation. Three typical cases of this syndrome are described and the role of the CT scan to obtain a definite diagnosis is emphasized. The syndrome is characterized by increased predisposition to develop a basal cell carcinoma and associated with multiorgan anomalies.
To present a case of GGS and explain modern standards of care for patients with this syndrome. Authors report the case of a year-old patient who was admitted to the Plastic Surgery Clinic due to numerous basal cell carcinomas. Previously patient underwent an orthopaedic, neurologic, dermatologic, stomatologic and surgery treatment due to particular anomalies which characterize this syndrome.
Comprehensive interview and broadening of the diagnostics enabled to diagnose GGS and to introduce the appropriate treatment. GGS is a multidisciplinary problem and widespread knowledge of this syndrome could accelerate the diagnosis process.
Early diagnosis of GGS allows to introduce the secondary prophylaxis and to apply the appropriate treatment to slow the progress of the syndrome.
Congenital hypoventilation syndrome and Hirschsprung's disease - Haddad syndrome : A neonatal case presentation. Congenital central hypoventilation syndrome CCHS is an uncommon cause of apnea in the newborn characterized by the occurrence of apnea predominantly during sleep. We report a newborn with Haddad syndrome that had a family history of spinal muscular atrophy and discuss aspects of CCHS and important considerations in the evaluation of apnea in the term newborn.
Cowden syndrome. Full Text Available Cowden syndrome or multiple hamartoma syndrome is an autosomal dominant condition with variable expressions that result mainly from mutation in the PTEN gene on arm 10q. It is characterized by multiple hamartomatous neoplasms of the skin, oral mucosa, gastrointestinal tract, bones, CNS, eyes, and genitourinary tract. Mucocutaneous features include trichilemmomas, oral mucosal papillomatosis, acral keratosis, and palmoplantar keratosis.
Here we present a case of Cowden syndrome in a year-old female patient with the chief complaint of multiple oral papillomatous lesions. We also investigated the MLH1 p. LeuPro VUS located in the PMS2 interaction domain and our results revealed that this variant displayed no defective function in terms of cellular location and heterodimer interaction.
Additionally, we assessed the tumor phenotype of a subset of patients and also the frequency of CRC and extra-colonic tumors in 2, individuals of the families, generating the first comprehensive portrait of the genetic and clinical aspects of patients suspected of LS in a Brazilian cohort.
Characterizing genetic syndromes involved in cancer and radiogenic cancer risk. The current report describes a recent update of the survey in light of two years of further progress in the Human Genome project, and is intended to supply a comprehensive list of those genetic syndromes , genes, DNA sequences and map locations that define genes likely to be involved in cancer risk.
Of the syndromes so linked, have been mapped to a chromosome, and have been mapped to a chromosome and had a DNA sequence associated with their messenger RNA or cDNA sequences. In addition, 35 syndromes have sequences not associated with map locations, and the remaining have neither been mapped nor sequenced.
We supply the list of the various genetic syndromes sorted by chromosome location and by OMIM descriptor, together with all the associated but unmapped and unsequenced syndromes. Mazabraud syndrome associated with McCune-Albright syndrome : a case report and review of the literature. Mazabraud syndrome is a very rare benign disorder characterized by the association of monostotic or polyostotic fibrous dysplasia and one or multiple intramuscular myxomas.
The association of Mazabraud syndrome and McCune-Albright in the same patient is an anecdotal event. We report the case of a year-old girl with Mazabraud syndrome associated with McCune-Albright syndrome.
Our literature review shows that in these patients there is a higher risk of malignant transformation of fibrous dysplasia into osteosarcoma, confirming previous reports. Conversely, no malignant transformation has been reported for myxomas in isolated Mazabraud syndrome or in the association with McCune-Albright syndrome. We conclude that these patients should be scheduled to a close and long-term follow-up.
The syndrome , characterized by increased predisposition to develop basal cell carcinoma and associated multiorgan anomalies, has a high level of penetrance and variable expressiveness. GGS is a multidisciplinary problem, early diagnosis of which allows introduction of secondary prophylaxis and following an appropriate treatment to delay the progress of the syndrome.
The following report emphasizes the need for awareness of the diagnostic criteria of this syndrome in cases with no typical skin lesions. Further insights into the allan-herndon-dudley syndrome : Clinical and functional characterization of a novel MCT8 mutation.
Here we report a novel MCT8 mutation identified in 4 generations of. X-linked Alport syndrome. Alport syndrome AS is a type IV collagen hereditary disease characterized by progressive hematuric nephritis, hearing loss, and ocular changes. Mutations in the COL4A5 collagen gene are responsible for the more common X-linked dominant form of the disease characterized by much less severe disease Data concerning families, of them with an X Because of the absence of genotype-phenotype correlation and the large intrafamilial phenotypic heterogeneity, early prognosis of the disease in X-linked Alport syndrome carriers remains moot.
Risk factors for developing renal failure have been identified Anxiety and catastrophizing remained increased in all groups. Symptom duration was associated Sjogren's syndrome is the only connective tissue disease that has been associated with sensory neuronopathy. The syndrome of painful legs and moving toes consisting of pain in the lower limbs with spontaneous movements of the toes or feet. Nevoid basal cell carcinoma syndrome , or basal cell nevus syndrome Gorlin syndrome , is a rare autosomal dominantly inherited disorder that is characterized by development of basal cell carcinomas from a young age.
Other distinguishing clinical features are seen in a majority of patients, and include keratocystic odontogenic tumors formerly odontogenic keratocysts as well as dyskeratotic palmar and plantar pitting.
A range of skeletal and other developmental abnormalities are also often seen. The disorder is caused by defects in hedgehog signaling which result in constitutive pathway activity and tumor cell proliferation. As sporadic basal cell carcinomas also commonly harbor hedgehog pathway aberrations, therapeutic agents targeting key signaling constituents have been developed and tested against advanced sporadically occurring tumors or syndromic disease, leading in to FDA approval of the first hedgehog pathway-targeted small molecule, vismodegib.
The elucidation of the molecular pathogenesis of nevoid basal cell carcinoma syndrome has resulted in further understanding of the most common human malignancy. Enamel renal syndrome : A rare case report. Full Text Available Enamel renal syndrome is a very rare disorder associating amelogenesis imperfecta with nephrocalcinosis.
It is known by various synonyms such as amelogenesis imperfecta nephrocalcinosis syndrome , MacGibbon syndrome , Lubinsky syndrome , and Lubinsky-MacGibbon syndrome.
It is characterized by enamel agenesis and medullary nephrocalcinosis. This paper describes enamel renal syndrome in a female patient born in a consanguineous family. Bartter syndrome represents the group of renal disturbances characterized by hypokaliemia and metabolic alkalosis. Some diseases could display hypokalemic metabolic alkalosis without primary tubular dysfunction. These disorders are called pseudo-Bartter syndrome.
In this paper we present 2 cases of pseudo-Bartter syndrome related among to other things to overuse of diuretic drugs. Hypertension og det metaboliske syndrom. The metabolic syndrome is a relatively prevalent condition characterized by co-existence of several metabolic and cardiovascular risk factors including hypertension.
Patients with hypertension have an increased risk of developing the metabolic syndrome which, in turn, increases the cardiovascular Udgivelsesdato: Jun In the present study, we evaluated the systemic expression of gal-1, together with the angiogenic factors, placental growth factor PlGF and soluble fms-like tyrosine kinase 1 sFlt-1 in conjunction with HELLP syndrome severity.
Systemic levels of gal-1 and sFlt-1 were elevated in patients with both early- and late-onset HELLP syndrome as compared to healthy controls. Our results show that HELLP syndrome is associated with increased circulating levels of gal-1; integrating systemic gal-1 measurements into the diagnostic analyses of pregnant women may provide more effective prediction of HELLP syndrome development. Genetics Home Reference: acral peeling skin syndrome.
Description Acral peeling skin syndrome is a skin disorder characterized by Genetics Home Reference: hyperparathyroidism-jaw tumor syndrome. Description Hyperparathyroidism-jaw tumor syndrome is a condition characterized by Full Text Available Gorlin-Goltz syndrome also known as nevoid basal cell carcinoma syndrome NBCCS is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness.
It is characterized by keratocystic odontogenic tumors KCOT in the jaw, multiple basal cell carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic examination in the first decade of life, as KCOTs are usually one of the first manifestations of the NBCCS syndrome. This article reports the case of a year-old girl with Gorlin-Goltz syndrome , emphasizing its clinical and radiographic manifestation. This study highlights the importance of health professionals in the early diagnosis of this syndrome and a multidisciplinary approach to provide a better diagnosis and prognosis.
Churg Strauss syndrome. The Churg-Strauss syndrome , also called allergic granulomatosis and angiitis, is a multisystem disorder characterized by allergic rhinitis, asthma, and prominent peripheral blood eosinophilia. The most common organ involved is the lung, followed by the skin. The Churg-Strauss syndrome , however, can affect any organ system, including the cardiovascular, gastrointestinal, renal, and central nervous systems.
Bartter syndrome associated with nephropathic cystinosis. Bartter syndrome is a rare inherited defect in the thick ascending limb of the loop of Henle. It is characterized by low potassium levels hypokalaemia , increased blood pH alkalosis and normal to low blood pressure. There are three types of Bartter syndrome : neonatal, the classic type and Gitelman syndrome.
Nephropathic cystinosis is an autosomal recessive disorder characterized by accumulation of free cystine in lysosomes due to disorder of lysosomal transport that can lead to end stage renal failure within 10 years and multiorgan impairment. We report a 5 year 9 month old child with Bartter syndrome associated with nephropathic cystinosis, hypothyroidism and rickets.
Hitherto, only a handful of similar cases have been reported in the literature. Goldenhar syndrome. Full Text Available Goldenhar syndrome is a syndrome of complex structures developing from first and second branchial arches during blastogenesis.
The etiology of this rare disease is not fully understood, as it has shown itself variable genetically and of unclear causes. The disorder is characterized by a wide spectrum of symptoms and physical features that may vary greatly in range and severity from case to case. Here we present a unique case of Goldenhar syndrome with absence of left condyle, hypoplasia of the zygomatic bone, no pneumatization of the mastoid process, underdeveloped mandible, bifid tongue and the skin tags in the preauricular area.
Cardiac involvement in antiphospholipid syndrome associated with Sneddon syndrome : a challenging diagnosis. Sneddon syndrome is a rare clinical entity characterized by the association of ischemic cerebrovascular disease and livedo reticularis. The authors report a case of stroke and myocardial infarction in a year-old man with Sneddon syndrome and antiphospholipid syndrome who subsequently met some criteria for systemic lupus erythematosus, highlighting the complexity of cardiovascular involvement in systemic diseases.
Nevoid basal cell carcinoma syndrome Gorlin-Goltz syndrome. The Gorlin-Goltz syndrome , also known as nevoid basal cell carcinoma syndrome NBCCS , is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by odontogenic keratocysts in the jaw, multiple basal cell nevi carcinomas and skeletal abnormalities.
This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the odontogenic keratocysts are usually one of the first manifestations of the syndrome.
This case report presents a patient diagnosed as NBCCS by clinical, radiographic and histological findings in a year-old boy. This paper highlights the importance of early diagnosis of NBCCS which can help in preventive multidisciplinary approach to provide a better prognosis for the patient.
Full Text Available The Gorlin-Goltz syndrome , also known as nevoid basal cell carcinoma syndrome NBCCS, is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. Eagle's Syndrome. Summary Introduction:? Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma.
Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is diffic Waardenburg Syndrome : A Case Report. Introduction: Auditory-pigmentary syndromes are a group of diseases that effect the skin, hair, eyes and the cochlea. Waardenburg syndrome is one of the members of these autosomal dominantly inherited diseases. Waardenburg syndrome is characterized by white forelock, congenital sensorineural hearing loss, hypopigmented skin and anomalies of the intraocular tissues.
How ever all these diagnostic features may not be seen in all patient. In addition, there are four subtypes of the syndrome in ea Description SOX2 anophthalmia syndrome is a rare disorder characterized by abnormal Hearing impairment in genotyped Wolfram syndrome patients. Plantinga, R. We sought to study the audiometric data of genotyped Wolfram syndrome patients with sensorineural hearing impairment. The Capgras syndrome in paranoid schizophrenia.
Capgras syndrome is characterized by a delusion of impostors who are thought to be physically similar but psychologically distinct from the misidentified person. This syndrome is generally thought to be relatively rare. Most of our knowledge about Capgras syndrome derives from single case studies and small series of cases usually from diagnostically heterogeneous groups.
In this article, a series of 31 patients suffering from both paranoid schizophrenia and Capgras syndrome is described. Issues pertaining to the phenomenology of Capgras syndrome , the possible relation between Capgras syndrome and other delusional misidentification syndromes , and a neurobiological hypothesis aimed at explaining Capgras syndrome are discussed.
Characterization of thrombosis in patients with Proteus syndrome. Patients with overgrowth and complex vascular malformation syndromes , including Proteus syndrome have an increased risk of thromboembolism.
Proteus syndrome is a mosaic, progressive overgrowth disorder involving vasculature, skin, and skeleton, and caused by a somatic activating mutation in AKT1. We conducted a comprehensive review of the medical histories and hematologic evaluations of 57 patients with Proteus syndrome to identify potential risk factors for thrombosis.
Of the remaining 47 living patients, six had thromboembolic events that all occurred postoperatively and in an affected limb.
Eleven of 21 patients had an abnormal hypercoagulable panel including Factor V Leiden heterozygotes, antithrombin III deficiency, positive lupus anticoagulant, or Protein C or S deficiencies.
0コメント