Assuntos
Articulação do Tornozelo , Cistos Ósseos/diagnóstico por imagem , Deformidades Adquiridas da Mão/microbiologia , Deformidades Articulares Adquiridas/microbiologia , Úlcera Cutânea/microbiologia , Tuberculose Osteoarticular/diagnóstico por imagem , Cistos Ósseos/microbiologia , Pré-Escolar , Deformidades Adquiridas da Mão/diagnóstico por imagem , Humanos , Deformidades Articulares Adquiridas/diagnóstico por imagem , Masculino , Radiografia , Úlcera Cutânea/patologia , Tuberculose Osteoarticular/complicaçõesAssuntos
Anormalidades Múltiplas/diagnóstico por imagem , Doenças do Colágeno/diagnóstico por imagem , Ossos Faciais/anormalidades , Luxações Articulares/diagnóstico por imagem , Ultrassonografia Pré-Natal , Anormalidades Múltiplas/genética , Adulto , Doenças do Colágeno/genética , Consanguinidade , Feminino , Humanos , Índia , Luxações Articulares/genética , Gravidez , SíndromeRESUMO
OBJECTIVE: The objectives of the study was to know whether the 'thinfat' phenotype exists in newborns, in Central Karnataka and to correlate various factors that contribute to this peculiar phenotype, with emphasis on genetic and maternal environmental factors. METHODS: For 1000 consecutive singleton term newborns, weight, length, head, mid arm, abdominal circumferences, biceps and subscapular skinfolds were measured at birth and compared with measurements of white Caucasian babies born in Southampton UK and Mysore babies at birth. RESULTS: The Davangere babies were significantly smaller in all measurements at birth (p < 0.001) compared to Southampton babies. The deficit varied according to the measurements; It was greatest for birth weight (-1.6 SD, CI -3.0, -0.2), mid arm circumference (-2.0 SD, CI -3.3, -0.8), head circumference (-1.8 SD, CI -3.1, -0.5) and least for length (-0.4 SD, CI -1.9, 1.1) and subscapular skin fold (-0.3 SD, CI -0.25, -0.12). Predictors of skinfold thickness were maternal body mass index (p < 0.05), maternal mid arm circumference (p < 0.001) and consanguinity (p < 0.05). CONCLUSION: Despite being small, truncal adiposity was present in Davangere neonates confirming the 'thinfat' phenotype. The role of consanguinity in other words, the role of genes, is important in determining this 'thinfat' phenotype in newborns.
Assuntos
Peso ao Nascer , Fenótipo , Antropometria , Índice de Massa Corporal , Humanos , Recém-Nascido , Idade Materna , Dobras Cutâneas , Adulto JovemRESUMO
Wharton's jelly is a specialized tissue which acts as supportive and protective structure substituting for the adventitia of the umbilical vessels. Absence of Wharton's jelly around the umbilical arteries is very rare and an unusual cause of perinatal mortality. We report a case of absent Wharton's jelly around the umbilical arteries with patent vitellointestinal duct--a rare association.
Assuntos
Artérias Umbilicais/anormalidades , Adulto , Feminino , Soropositividade para HIV , Humanos , Recém-Nascido , Masculino , Gravidez , Resultado da Gravidez , Ultrassonografia Pré-Natal , Artérias Umbilicais/patologia , Cordão Umbilical/patologiaRESUMO
Osteopetrosis is a collective term for a range of sclerosing bone diseases resulting from an absence or defective function of osteoclasts. The clinical expression is variable and includes skeletal, hematological and neurological manifestations. The common neurological manifestation includes cranial neuropathies involving optic, cochlear, facial and trigeminal nerves. Spastic quadriplegia occurring as a result of brain stem compression in osteopetrosis is uncommon. The association of Type 1 Arnold Chiari malformation with osteopetrosis resulting in brain stem compression syndrome is an extremely rare entity.
Assuntos
Malformação de Arnold-Chiari/complicações , Tronco Encefálico/patologia , Osteopetrose/complicações , Adolescente , Encefalopatias/etiologia , Humanos , Masculino , Osteopetrose/diagnóstico , Quadriplegia/etiologiaRESUMO
Eventration of the diaphragm, most often an isolated entity and detected incidentally, has been known to be associated with several genetic syndromes. Authors report their experience of seeing diaphragmatic eventration in association with Poland syndrome and wandering spleen syndrome and briefly discuss the literature.
Assuntos
Anormalidades Múltiplas/diagnóstico , Eventração Diafragmática/diagnóstico , Síndrome de Poland/diagnóstico , Criança , Feminino , Seguimentos , Humanos , Masculino , Radiografia Torácica , Fatores de Risco , Tomografia Computadorizada por Raios XRESUMO
OBJECTIVE: To determine the baseline Widal titres in apparently healthy children in Davangere. METHODS: Cross-sectional study was done on 250 children. Widal titers were found using tube agglutination test. RESULTS: Out of 250,64.2% had a titre of less than 1:20,22.4% had a titre equal to 1:20,9.6% had a titre of 1:40 and 3.6% had a titre of 1:80 to 'O' antigen and 67.2% had a titre of less than 1:20, 21.2% had a titre equal to 1:20, 8% had a titre of 1:40 and 3.6% had a titre of 1:80 to 'H' antigen of S. enterica subsp. enterica ser. Typhi. No children in age group 6 months-2 years had a titre of 1:80 to either antigen. All children in this age group had a titre of less than 1:20 to AH antigen and older children had a titre upto 1:40 dilution. CONCLUSION: Baseline titres for either S. enterica subsp. enterica ser. Typhi antigen in 6 month-2 year was 1:40 and older children was 1:80. Baseline titres for H antigen of S. enterica subsp. enterica ser. Paratyphi A in 6 month-2 year was less than 1:20 and for older children was 1:40 dilution.
Assuntos
Testes de Aglutinação , Doenças Endêmicas , Febre Paratifoide/imunologia , Febre Tifoide/imunologia , Fatores Etários , Aglutinação , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Incidência , Índia/epidemiologia , Lactente , Masculino , Febre Paratifoide/epidemiologia , Valores de Referência , Fatores de Risco , Salmonella paratyphi A/imunologia , Salmonella typhi/imunologia , Índice de Gravidade de Doença , Febre Tifoide/epidemiologiaRESUMO
Kallmann's syndrome is a rare genetic disorder due to abnormal migration of olfactory axons and gonadotropin releasing hormone producing neurons, characterized by hypogonadism and anosmia. The prevalence of Kallmann's syndrome is 1:10,000 to 1:60,000 with a male to female ratio of 5:1. The inheritance of Kallmann's syndrome may be X-linked, autosomal recessive or autosomal dominant with variable penetrance, mutation involving KAL-1 and KAL-2 gene respectively. We report a case of Kallmann's syndrome in a 19-year-old boy with characteristic clinical, biochemical and MRI findings.
Assuntos
Síndrome de Kallmann/diagnóstico , Síndrome de Kallmann/tratamento farmacológico , Testosterona/uso terapêutico , Adulto , Relação Dose-Resposta a Droga , Esquema de Medicação , Seguimentos , Humanos , Masculino , Índice de Gravidade de DoençaRESUMO
We treated a 5-year-old boy, in our hospital in south India, who had a history of recurrent respiratory infections, tuberculosis, and severe varicella infection. He was short in build and a radiological examination revealed evidence of spondylometaphyseal dysplasia. Investigation of the immune system was suggestive of compromised cellular immunity. Immunofluorescence and immunoblot assay for antibodies detected underlying multiple disorders such as systemic lupus erythematosus (SLE), autoimmune thrombocytopenia, and juvenile rheumatoid arthritis (JRA). Roifman et al. described a similar syndrome in 2000 and 2003, which was characterized by spondylometaphyseal dyplasia, combined immunodeficiency, and autoimmunity and called it Roifman-Costa syndrome (OMIM 607944). Hence a diagnosis of Roifman-Costa syndrome was made. Ours shall be the first report of such a condition from the Indian subcontinent and hence the communication.
Assuntos
Doenças Autoimunes/diagnóstico , Consanguinidade , Osteocondrodisplasias/diagnóstico , Imunodeficiência Combinada Severa/diagnóstico , Doenças Autoimunes/genética , Autoimunidade/genética , Pré-Escolar , Análise Mutacional de DNA , Humanos , Masculino , Osteocondrodisplasias/diagnóstico por imagem , Osteocondrodisplasias/genética , Radiografia , Imunodeficiência Combinada Severa/genética , SíndromeRESUMO
Fetal Valproate Syndrome results from prenatal exposure to valproic acid. It is characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction. Here we report a 4-year-old boy with typical facial features of Fetal Valproate Syndrome.
Assuntos
Anticonvulsivantes/efeitos adversos , Doenças do Recém-Nascido/induzido quimicamente , Efeitos Tardios da Exposição Pré-Natal/induzido quimicamente , Ácido Valproico/efeitos adversos , Pré-Escolar , Feminino , Humanos , Recém-Nascido , Masculino , Gravidez , SíndromeRESUMO
In this communication is reported a neonate with Yunis Varon syndrome, a rare autosomal recessive disorder, born to a consanguineously married couple who had microcephaly, wide cranial sutures, prominent eyes, hypertelorism, dysplastic ears, sparse hairs, cupid bow like upper lip with median pseudocleft and labio-gingival retraction. Bilateral hypoplasia of thumbs, absent great toes, short phalanges were other features. Additional features in this case included median pseudocleft unreported earlier and C.T. findings of underdeveloped gyri, ischemic changes in temperoparietal region and bilateral lacunar infarcts in middle cerebral artery territory.
Assuntos
Anormalidades Múltiplas/diagnóstico , Anormalidades Craniofaciais/diagnóstico por imagem , Dedos/anormalidades , Deformidades Congênitas do Pé/diagnóstico por imagem , Feminino , Humanos , Recém-Nascido , Radiografia , SíndromeRESUMO
Jarcho-Levin syndrome is an eponym that represents a spectrum of short trunk skeletal dysplasias with variable involvement of the vertebrae and ribs. Initially considered to be lethal, it is now accepted as compatible with life in its milder presentations. Here are reported two neonates with the lethal variety of this syndrome. One neonate had associated anomalies like hydrocephalus, hydroureteronephrosis and meningomyelocoele while the other had no additional anomalies. Also is reviewed the literature regarding this less understood disorder focusing on the applied clinical aspects that have stemmed out from the recent molecular research.
Assuntos
Doenças do Desenvolvimento Ósseo/congênito , Doenças do Desenvolvimento Ósseo/diagnóstico , Anormalidades Musculoesqueléticas/diagnóstico , Evolução Fatal , Feminino , Humanos , Recém-Nascido , Masculino , Costelas/anormalidades , Coluna Vertebral/anormalidadesRESUMO
Hyperekplexia is a rare, hereditary, non-epileptic disorder characterized by an exaggerated startle reaction to unexpected auditory, somatosensory and visual stimuli. The authors describe a one-day-old term neonate, who presented with jitteriness and episodic tonic spasms, and his elder sister with hyperekplexia. Hyperekplexia though is a rare disorder is one of the differential diagnoses for refractory tonic spasms in infancy. The prognosis is generally good in hereditary hyperekplexia. Recent molecular studies have revealed many associated mutations in the glycine receptor alpha and beta subunit genes.
Assuntos
Reflexo de Sobressalto/genética , Rigidez Muscular Espasmódica/genética , Anticonvulsivantes/uso terapêutico , Pré-Escolar , Clonazepam/uso terapêutico , Feminino , Humanos , Recém-Nascido , Masculino , Rigidez Muscular Espasmódica/tratamento farmacológico , Rigidez Muscular Espasmódica/fisiopatologiaRESUMO
Branchio-oculo-facial syndrome (BOFS) is a very rare autosomal dominant disorder with incomplete penetrance and variable expression; with phenotypic variation ranging from mild to severe forms, involving eye, ear, oral and craniofacial structure. We report three members of one family, showing great variability in its phenotypic expression and review the recent literature.
Assuntos
Síndrome Brânquio-Otorrenal/genética , Adolescente , Síndrome Brânquio-Otorrenal/diagnóstico , Criança , Feminino , Genes Dominantes , Humanos , Masculino , FenótipoRESUMO
Fibrochondrogenesis is a rare lethal short-limb skeletal dysplasia. Till now only fifteen cases have been reported since Lazzaroni-Fossati first described it in 1978. Hence reported a case of fibrochondrogenesis in a child born to a consanguineously married couple with characteristic physical and radiological features and discuss the incidence, inheritance, ultrasonographic, clinical, radiological and pathological characteristics of this disorder.
Assuntos
Nanismo , Osteocondrodisplasias , Consanguinidade , Nanismo/diagnóstico , Nanismo/genética , Genes Recessivos , Humanos , Recém-Nascido , Masculino , Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/genéticaRESUMO
Here it is reported a 4-year-old boy with Langer-Giedion syndrome (Trichorhino phalangeal syndrome-II), who had characteristic features of TRP II, associated with multiple renal cysts hitherto unreported. This could be a new association in this syndrome that may serve to support the concept of contiguous gene syndrome in patients with TRP II.
Assuntos
Doenças Renais Císticas/etiologia , Síndrome de Langer-Giedion/complicações , Pré-Escolar , Humanos , Síndrome de Langer-Giedion/diagnóstico , MasculinoRESUMO
Jatropha curcas is common plant found all over India more commonly in the southern parts. Though it is a common cause of accidental poisoning among children in these parts, standard texts rarely cover it. Gastrointestinal manifestations are predominant feature of poisoning with the seeds of Jatropha curcas. Mortality is rare.
Assuntos
Jatropha/intoxicação , Adolescente , Criança , Feminino , Humanos , Masculino , Intoxicação/diagnóstico , Intoxicação/terapiaRESUMO
Jatropha curcas is common plant found all over India more commonly in the southern parts. Though it is a common cause of accidental poisoning among children in these parts, standard texts rarely cover it. Gastrointestinal manifestations are predominant feature of poisoning with the seeds of Jatropha curcas. Mortality is rare.