RESUMO
An 11-month-old female Saanen goat, weighing 12.7 kg, was taken to the Veterinary Hospital of the Federal University of Minas Gerais because of sternal recumbency. On clinical examination, the animal was much smaller than expected and had hair similar to that of puppies and areas of hyperpigmentation on the head and dorsocervical and dorsothoracic cranial regions. Radiographic examination revealed fractures in both femurs and severe generalized osteoporosis. Given the unfavourable prognosis, the animal was euthanized. Necropsy revealed generalized pallor, muscular atrophy of the pelvic limbs and little reserve of subcutaneous adipose tissue. Both femurs had complete and closed diaphyseal fractures. The second lumbar vertebra was severely reduced in length as a result of a fracture, with dorsal displacement of the vertebral body towards the vertebral canal and compression of the spinal cord. Long bones and vertebrae had severe cortical thinning, enlargement of the medullary canal and reduced resistance. The thyroid gland was not in its normal anatomical location. A pale red nodule (1.0 × 0.4 cm) in the serosa of the middle third of the trachea, close to the thoracic entrance, was confirmed as ectopic thyroid tissue. Microscopically, the bones had evidence of growth arrest and severe osteoporosis. The ectopic thyroid nodule was hyperplastic with severe hypertrophy of follicular cells. The spinal cord was compressed by vertebral fractures and had focally extensive and severe myelomalacia. Based on the pathological features, the case was diagnosed as thyroid dysgenesis characterized by eutopic thyroid agenesis and ectopic thyroid tissue, associated with interruption of bone growth with dwarfism, osteoporosis and spontaneous secondary fractures with compression of the lumbar spinal cord.
Assuntos
Nanismo , Doenças das Cabras , Cabras , Osteoporose , Animais , Feminino , Doenças das Cabras/patologia , Nanismo/veterinária , Nanismo/complicações , Nanismo/patologia , Osteoporose/veterinária , Osteoporose/complicações , Fraturas Espontâneas/veterinária , Glândula TireoideRESUMO
Stunting is a significant public health problem in low- and middle-income countries. This study assessed the prevalence of stunting and associated risk factors of stunting among preschool and school-going children in flood-affected areas of Pakistan. A cross-sectional study was conducted by visiting 656 households through multi-stage sampling. Respondent's anthropometric measurements, socio-demographic information and sanitation facilities were explored. A logistic regression model was used to determine determinants of stunting, controlling for all possible confounders. The overall prevalence of stunting in children was 40.5%, among children 36.1% boys and 46.3% of girls were stunted. The prevalence of stunting in under-five children was 50.7%. Female children (OR=1.35, 95% CI:0.94-2.0), children aged 13-24 months (OR=6.5, 95% CI: 3.0-13.9), mothers aged 15-24 years (OR=4.4, 95% CI: 2.6-7.2), joint family (OR=2.1, 95% CI: 1.4-3.0) did not have access to improved drinking water (OR=3.3, 95% CI: 1.9-5.9), and the toilet facility (OR=2.8, 95% CI, 1.9-4.3), while the children from district Nowshera (OR=1.7, 95% CI: 0.9-3.2) were significantly (P<0.05) associated in univariate analysis. The regression model revealed that child age, maternal age, family type, quality of water, and toilet facility, were the significant (P<0.05) factors contributing to child stunting in the flood-hit areas. Identification of key factors might be helpful for policymakers in designing comprehensive community-based programs for the reduction of stunting in flood-affected areas. In disasters such as flood, the detrimental consequences of the stunting problem could be even more on children. Evidence-based education and care must be provided to the families in the flood-affected regions to reduce the stunting problem. The determinants of stunting should [...].(AU)
A baixa estatura é um problema significativo de saúde pública em países de baixa e média renda. Este estudo avaliou a prevalência de nanismo e os fatores de risco associados de nanismo entre crianças em idade pré-escolar e em idade escolar em áreas afetadas por inundações do Paquistão. Foi realizado um estudo transversal visitando 656 domicílios por meio de amostragem em múltiplos estágios. As medidas antropométricas do entrevistado, informações sociodemográficas e instalações de saneamento foram exploradas. Um modelo de regressão logística foi usado para determinar os determinantes do nanismo, controlando todos os possíveis fatores de confusão. A prevalência geral de baixa estatura em crianças foi de 40,5%, entre as crianças 36,1% dos meninos e 46,3% das meninas com baixa estatura. A prevalência de baixa estatura em crianças menores de 5 anos foi de 50,7%. Crianças do sexo feminino (OR = 1,35, IC de 95%: 0,94-2,0), crianças de 13-24 meses (OR = 6,5, IC de 95%: 3,0-13,9), mães de 15-24 anos (OR = 4,4, IC de 95%: 2,6-7,2), família conjunta (OR = 2,1, IC 95%: 1,4-3,0) não tiveram acesso a água potável de qualidade (OR = 3,3, IC 95%: 1,9-5,9) e a banheiro (OR = 2,8, IC de 95%, 1,9-4,3), enquanto as crianças do distrito de Nowshera (OR = 1,7, IC de 95%: 0,9-3,2) foram significativamente (P < 0,05) associadas na análise univariada. O modelo de regressão revelou que a idade da criança, idade materna, tipo de família, qualidade da água e banheiro foram os fatores significativos (P < 0,05) que contribuíram para a baixa estatura infantil nas áreas afetadas pelas enchentes. A identificação de fatores-chave pode ser útil para os formuladores de políticas no planejamento de programas comunitários abrangentes para a redução da baixa estatura em áreas afetadas pelas enchentes. Em desastres como enchentes, as consequências prejudiciais do problema de baixa estatura podem [...].(AU)
Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Criança , Nanismo/complicações , Nanismo/diagnóstico , Fatores de Risco , Desnutrição/complicações , Inundações , Estudos TransversaisRESUMO
Stunting is a significant public health problem in low- and middle-income countries. This study assessed the prevalence of stunting and associated risk factors of stunting among preschool and school-going children in flood-affected areas of Pakistan. A cross-sectional study was conducted by visiting 656 households through multi-stage sampling. Respondent's anthropometric measurements, socio-demographic information and sanitation facilities were explored. A logistic regression model was used to determine determinants of stunting, controlling for all possible confounders. The overall prevalence of stunting in children was 40.5%, among children 36.1% boys and 46.3% of girls were stunted. The prevalence of stunting in under-five children was 50.7%. Female children (OR=1.35, 95% CI:0.94-2.0), children aged 13-24 months (OR=6.5, 95% CI: 3.0-13.9), mothers aged 15-24 years (OR=4.4, 95% CI: 2.6-7.2), joint family (OR=2.1, 95% CI: 1.4-3.0) did not have access to improved drinking water (OR=3.3, 95% CI: 1.9-5.9), and the toilet facility (OR=2.8, 95% CI, 1.9-4.3), while the children from district Nowshera (OR=1.7, 95% CI: 0.9-3.2) were significantly (P<0.05) associated in univariate analysis. The regression model revealed that child age, maternal age, family type, quality of water, and toilet facility, were the significant (P<0.05) factors contributing to child stunting in the flood-hit areas. Identification of key factors might be helpful for policymakers in designing comprehensive community-based programs for the reduction of stunting in flood-affected areas. In disasters such as flood, the detrimental consequences of the stunting problem could be even more on children. Evidence-based education and care must be provided to the families in the flood-affected regions to reduce the stunting problem. The determinants of stunting should [...].
A baixa estatura é um problema significativo de saúde pública em países de baixa e média renda. Este estudo avaliou a prevalência de nanismo e os fatores de risco associados de nanismo entre crianças em idade pré-escolar e em idade escolar em áreas afetadas por inundações do Paquistão. Foi realizado um estudo transversal visitando 656 domicílios por meio de amostragem em múltiplos estágios. As medidas antropométricas do entrevistado, informações sociodemográficas e instalações de saneamento foram exploradas. Um modelo de regressão logística foi usado para determinar os determinantes do nanismo, controlando todos os possíveis fatores de confusão. A prevalência geral de baixa estatura em crianças foi de 40,5%, entre as crianças 36,1% dos meninos e 46,3% das meninas com baixa estatura. A prevalência de baixa estatura em crianças menores de 5 anos foi de 50,7%. Crianças do sexo feminino (OR = 1,35, IC de 95%: 0,94-2,0), crianças de 13-24 meses (OR = 6,5, IC de 95%: 3,0-13,9), mães de 15-24 anos (OR = 4,4, IC de 95%: 2,6-7,2), família conjunta (OR = 2,1, IC 95%: 1,4-3,0) não tiveram acesso a água potável de qualidade (OR = 3,3, IC 95%: 1,9-5,9) e a banheiro (OR = 2,8, IC de 95%, 1,9-4,3), enquanto as crianças do distrito de Nowshera (OR = 1,7, IC de 95%: 0,9-3,2) foram significativamente (P < 0,05) associadas na análise univariada. O modelo de regressão revelou que a idade da criança, idade materna, tipo de família, qualidade da água e banheiro foram os fatores significativos (P < 0,05) que contribuíram para a baixa estatura infantil nas áreas afetadas pelas enchentes. A identificação de fatores-chave pode ser útil para os formuladores de políticas no planejamento de programas comunitários abrangentes para a redução da baixa estatura em áreas afetadas pelas enchentes. Em desastres como enchentes, as consequências prejudiciais do problema de baixa estatura podem [...].
Assuntos
Masculino , Feminino , Humanos , Pré-Escolar , Criança , Desnutrição/complicações , Fatores de Risco , Inundações , Nanismo/complicações , Nanismo/diagnóstico , Estudos TransversaisRESUMO
Kenny-Caffey syndrome (KCS) is a rare hereditary skeletal disorder involving hypoparathyroidism. The autosomal dominant form (KCS2), caused by heterozygous pathogenic variants in the FAM111A gene, is distinguished from the autosomal recessive form (KCS1) and Sanjad-Sakati syndrome (SSS), both caused by pathogenic variants in the tubulin folding cofactor E (TBCE) gene, by the absence of microcephaly and intellectual disability. We present a patient with KCS2 caused by a de novo pathogenic variant c.1706G>A (p.Arg569His) in FAM111A gene, presenting intellectual disability and microcephaly, which are considered to be typical signs of SSS. We suggest that KCS1, KCS2, and SSS may not represent mutually exclusive clinical entities, but possibly an overlapping spectrum.
Assuntos
Anormalidades Múltiplas/patologia , Nanismo/patologia , Transtornos do Crescimento/patologia , Hiperostose Cortical Congênita/patologia , Hipocalcemia/patologia , Hipoparatireoidismo/patologia , Deficiência Intelectual/patologia , Mutação , Osteocondrodisplasias/patologia , Fenótipo , Receptores Virais/genética , Convulsões/patologia , Anormalidades Múltiplas/genética , Adolescente , Nanismo/complicações , Nanismo/genética , Transtornos do Crescimento/complicações , Transtornos do Crescimento/genética , Humanos , Hiperostose Cortical Congênita/complicações , Hiperostose Cortical Congênita/genética , Hipocalcemia/complicações , Hipocalcemia/genética , Hipoparatireoidismo/complicações , Hipoparatireoidismo/genética , Deficiência Intelectual/complicações , Deficiência Intelectual/genética , Masculino , Osteocondrodisplasias/complicações , Osteocondrodisplasias/genética , Convulsões/complicações , Convulsões/genéticaRESUMO
BACKGROUND: Mucopolysaccharidosis type I (MPS I) results in significant disease burden and early treatment is important for optimal outcomes. Recognition of short stature and growth failure as symptoms of MPS I among pediatric endocrinologists may lead to earlier diagnosis and treatment. CASE PRESENTATION: A male patient first began experiencing hip pain at 5 years of age and was referred to an endocrinologist for short stature at age 7. Clinical history included recurrent respiratory infections, sleep apnea, moderate joint contractures, mild facial dysmorphic features, scoliosis, and umbilical hernia. Height was more than - 2 SD below the median at all time points. Growth velocity was below the 3rd percentile. Treatment for short stature included leuprolide acetate and recombinant human growth hormone. The patient was diagnosed with MPS I and began enzyme replacement therapy with laronidase at age 18. CONCLUSIONS: The case study patient had many symptoms of MPS I yet remained undiagnosed for 11 years after presenting with short stature. The appropriate path to MPS I diagnosis when patients present with short stature and/or growth failure plus one or more of the common signs of attenuated disease is described. Improved awareness regarding association of short stature and growth failure with attenuated MPS I is needed since early identification and treatment significantly decreases disease burden.
Assuntos
Nanismo/complicações , Nanismo/diagnóstico , Mucopolissacaridose I/complicações , Mucopolissacaridose I/diagnóstico , Adolescente , Criança , Pré-Escolar , Diagnóstico Diferencial , Nanismo/genética , Humanos , Masculino , Mucopolissacaridose I/genéticaRESUMO
Context: Genetic evaluation has been recognized as an important tool to elucidate the causes of growth disorders. Objective: To investigate the cause of short stature and to determine the phenotype of patients with IHH mutations, including the response to recombinant human growth hormone (rhGH) therapy. Patients and Methods: We studied 17 families with autosomal-dominant short stature by using whole exome sequencing and screened IHH defects in 290 patients with growth disorders. Molecular analyses were performed to evaluate the potential impact of N-terminal IHH variants. Results: We identified 10 pathogenic or possibly pathogenic variants in IHH, an important regulator of endochondral ossification. Molecular analyses revealed a smaller potential energy of mutated IHH molecules. The allele frequency of rare, predicted to be deleterious IHH variants found in short-stature samples (1.6%) was higher than that observed in two control cohorts (0.017% and 0.08%; P < 0.001). Identified IHH variants segregate with short stature in a dominant inheritance pattern. Affected individuals typically manifest mild disproportional short stature with a frequent finding of shortening of the middle phalanx of the fifth finger. None of them have classic features of brachydactyly type A1, which was previously associated with IHH mutations. Five patients heterozygous for IHH variants had a good response to rhGH therapy. The mean change in height standard deviation score in 1 year was 0.6. Conclusion: Our study demonstrated the association of pathogenic variants in IHH with short stature with nonspecific skeletal abnormalities and established a frequent cause of growth disorder, with a preliminary good response to rhGH.
Assuntos
Nanismo/genética , Proteínas Hedgehog/genética , Hormônio do Crescimento Humano/uso terapêutico , Anormalidades Musculoesqueléticas/genética , Mutação , Adolescente , Adulto , Criança , Pré-Escolar , Estudos de Coortes , Análise Mutacional de DNA , Nanismo/complicações , Família , Feminino , Frequência do Gene , Terapia de Reposição Hormonal , Humanos , Lactente , Masculino , Anormalidades Musculoesqueléticas/complicações , Linhagem , Resultado do Tratamento , Adulto JovemAssuntos
Anormalidades Múltiplas/diagnóstico , Paralisia Cerebral/diagnóstico , Nanismo/diagnóstico , Quadriplegia/diagnóstico , Paralisia Cerebral/complicações , Pré-Escolar , Pé Torto Equinovaro/diagnóstico , Diagnóstico Diferencial , Nanismo/complicações , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Espasticidade Muscular/fisiopatologia , Quadriplegia/etiologia , Medição de Risco , Escoliose/congênito , Escoliose/diagnósticoRESUMO
Seckel syndrome is a rare autosomal recessive disease, genetically heterogeneous, characterized by short stature, prenatal microcephaly, intellectual disability, dysmorphic features, chromosomal instability, and hematological disorders. We report the case of a six-yr-old boy with Seckel syndrome and aplastic anemia who underwent successful allogeneic bone marrow transplantation from ten of ten HLA matched unrelated donor. Currently the patient is on D+771, in good health conditions and with no further complications. In conclusion, this case indicates that bone marrow transplantation is an acceptable therapeutic option for Seckel syndrome complicated by hematological alterations.
Assuntos
Anemia Aplástica/terapia , Nanismo/terapia , Microcefalia/terapia , Transplante de Células-Tronco/métodos , Alelos , Anemia Aplástica/complicações , Transplante de Medula Óssea , Criança , Ciclosporina/uso terapêutico , Nanismo/complicações , Fácies , Feminino , Antígenos HLA , Humanos , Doadores Vivos , Masculino , Microcefalia/complicações , Pessoa de Meia-Idade , Condicionamento Pré-Transplante , Transplante Homólogo/métodos , Resultado do TratamentoRESUMO
El Síndrome de Ellis Van Creveld es poco frecuente, hereditario de carácter autosómico recesivo no habiendo predilección por sexo. Se caracteriza por acortamiento acromesomélico, polidactilia postaxial bilateral de manos, condrodisplasia de huesos largos y displasia ectodérmica de uñas y dientes. El conocimiento de la misma es imperativo para un diagnóstico temprano y manejo multidisciplinario oportuno que permita una mejor calidad de vida de estos pacientes.
The Ellis Van Creveld syndrome is rare, hereditary autosomal recessive, without no sex predilection. It is characterized by short-limbed dwarfism, bilateral postaxial hand polydactyl, chondrodysplasia of long bones and ectodermic dysplasia affecting fingernails and teeth. The knowledge of it is essential for early diagnosis and appropriate multidisciplinary management that allows a better quality of life for these patients.
Assuntos
Humanos , Feminino , Pré-Escolar , Criança , Nanismo/complicações , Nanismo/fisiopatologia , Genes Recessivos/genética , Síndrome de Ellis-Van Creveld/fisiopatologia , Síndrome de Ellis-Van Creveld/genética , Doenças Genéticas Inatas , OdontopediatriaRESUMO
Hundreds of different human skeletal disorders have been characterized at molecular level and a growing number of resembling dysplasias with orthologous genetic defects are being reported in dogs. This study describes a novel genetic defect in the Brazilian Terrier breed causing a congenital skeletal dysplasia. Affected puppies presented severe skeletal deformities observable within the first month of life. Clinical characterization using radiographic and histological methods identified delayed ossification and spondyloepiphyseal dysplasia. Pedigree analysis suggested an autosomal recessive disorder, and we performed a genome-wide association study to map the disease locus using Illumina's 22K SNP chip arrays in seven cases and eleven controls. A single association was observed near the centromeric end of chromosome 6 with a genome-wide significance after permutation (p(genome)=â0.033). The affected dogs shared a 13-Mb homozygous region including over 200 genes. A targeted next-generation sequencing of the entire locus revealed a fully segregating missense mutation (c.866C>T) causing a pathogenic p.P289L change in a conserved functional domain of ß-glucuronidase (GUSB). The mutation was confirmed in a population of 202 Brazilian terriers (pâ=â7,71×10(-29)). GUSB defects cause mucopolysaccharidosis VII (MPS VII) in several species and define the skeletal syndrome in Brazilian Terriers. Our results provide new information about the correlation of the GUSB genotype to phenotype and establish a novel canine model for MPS VII. Currently, MPS VII lacks an efficient treatment and this model could be utilized for the development and validation of therapeutic methods for better treatment of MPS VII patients. Finally, since almost one third of the Brazilian terrier population carries the mutation, breeders will benefit from a genetic test to eradicate the detrimental disease from the breed.
Assuntos
Osso e Ossos/anormalidades , Glucuronidase/genética , Mucopolissacaridose VII/enzimologia , Mucopolissacaridose VII/genética , Mutação de Sentido Incorreto , Sequência de Aminoácidos , Animais , Sequência de Bases , Cromossomos de Mamíferos/genética , Cães , Nanismo/complicações , Feminino , Testes Genéticos , Estudo de Associação Genômica Ampla , Glucuronidase/química , Glucuronidase/metabolismo , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Dados de Sequência Molecular , Mucopolissacaridose VII/complicações , Mucopolissacaridose VII/patologia , Osteocondrodisplasias/complicações , Osteogênese/genéticaRESUMO
OBJECTIVE: To characterize, via clinical and molecul criteria, a cohort of patients with 3M syndrome and thereby increase awareness of this syndrome as a recognizable cause of proportionate short stature. STUDY DESIGN: We conducted a case series of patients referred to clinical genetics for proportionate short stature. CUL7, OBSL1, and CCDC8 genes were clinically phenotyped and sequenced. RESULTS: In 6 Saudi families with 3M syndrome, we identified three CUL7, one OBSL1, and one CCDC8 novel mutations, which we show result in a remarkably similar clinical phenotype. Despite their typical and easily discernible clinical phenotype, all these patients have been extensively investigated for alternative causes of their short stature and received erroneous diagnoses. CONCLUSION: Increased awareness about this syndrome among pediatricians and endocrinologists is needed to avoid a costly and unnecessary diagnostic odyssey.
Assuntos
Nanismo/etiologia , Deficiência Intelectual/complicações , Deficiência Intelectual/diagnóstico , Hipotonia Muscular/complicações , Hipotonia Muscular/diagnóstico , Adolescente , Adulto , Criança , Pré-Escolar , Nanismo/complicações , Nanismo/diagnóstico , Feminino , Humanos , Lactente , Masculino , Coluna Vertebral/anormalidadesRESUMO
Xeroderma pigmentosum is a rare genetic disease characterized by clinical and cellular hypersensitivity to ultraviolet radiation and DNA repair defects. Patients with xeroderma pigmentosum experience sun-induced cutaneous and ocular abnormalities, including cancer. Some develop neurological disorders. We describe the case of a 2 year-old child with DeSanctis-Cacchione's syndrome, with severe neurological deterioration associated with schizencephaly. In the current clinical classification of xeroderma pigmentosum, the term is reserved for cases with severe neurological disorders linked to dwarfism and immature sexual development. The association of xeroderma pigmentosum with schizencephaly has not to date been reported in the literature.
Assuntos
Nanismo/diagnóstico , Hipogonadismo/diagnóstico , Deficiência Intelectual/diagnóstico , Malformações do Desenvolvimento Cortical/diagnóstico , Xeroderma Pigmentoso/diagnóstico , Pré-Escolar , Nanismo/complicações , Humanos , Hipogonadismo/complicações , Deficiência Intelectual/complicações , Masculino , Malformações do Desenvolvimento Cortical/complicações , Xeroderma Pigmentoso/complicaçõesRESUMO
This communication presents a new alternative for the treatment of retarded growth and sexual development associated with spleno- megaly: subtotal splenectomy, preserving the upper splenic pole supplied only by the splenogastric vessels, to avoid adverse effects of total splenectomy. We performed this procedure associated with central splenorenal shunt or portal-variceal disconnection in 3 teenagers with portal hypertension due to Schistosomia-sis Mansoni, complicated by variceal bleedings. All of them presented retarded growth and sexual development. All patients had uneventful postoperative follow-up, and normal growth and sexual development after the surgery. Subtotal splenectomy should be considered for treatment dwarfism associated with splenomegaly.
Assuntos
Esplenectomia/métodos , Esplenomegalia/cirurgia , Adolescente , Nanismo/complicações , Humanos , Masculino , Puberdade Tardia/complicações , Esplenomegalia/complicaçõesRESUMO
OBJECTIVE: To evaluate post-transplant outcomes for patients treated with human growth hormone (rhGH) during the course of chronic renal insufficiency (CRI). STUDY DESIGN: Patients (the "cohort" group) were identified who had been enrolled in 2 controlled studies to determine the efficacy and safety of rhGH in growth-retarded children with CRI and were subsequently enrolled in the North American Pediatric Renal Transplant Cooperative Study (NAPRTCS) and received a renal transplant. Patient survival, graft survival, time to first acute rejection episode, causes of graft failure, adverse events, and serial growth data from transplant to 60 months were evaluated. Data from the cohort group of 102 patients were compared with data from 4913 primary transplants from "other NAPRTCS" recipients (the "control" group). RESULTS: No significant difference was seen in patient survival or graft survival, incidence of acute rejection episode, or time to first rejection episode between the cohort and control groups. No specific adverse events were attributable to previous rhGH treatment. Only 2 patients had post-transplant lymphoproliferative disease in the cohort group, with no other malignancies reported. The mean height z scores in the cohort group at baseline and 60 months after transplant were -1.92 and -1.90, and the Deltaz score at 60 months was +0.20 compared with the control group (-1.88 and -2.10). CONCLUSIONS: Treatment of growth-retarded patients with CRI does not adversely affect graft function after renal transplantation. "Catch-down" growth does not occur after renal transplantation.
Assuntos
Rejeição de Enxerto/induzido quimicamente , Rejeição de Enxerto/epidemiologia , Hormônio do Crescimento Humano/efeitos adversos , Falência Renal Crônica/complicações , Transplante de Rim , Adolescente , Criança , Pré-Escolar , Estudos de Coortes , Nanismo/complicações , Nanismo/tratamento farmacológico , Feminino , Sobrevivência de Enxerto , Hormônio do Crescimento Humano/uso terapêutico , Humanos , Lactente , Falência Renal Crônica/cirurgia , MasculinoRESUMO
Elevated sweat chloride concentration in a patient with Mauriac syndrome has been reported only once. The authors of that report regarded their patient's underlying malnutrition, and not Mauriac syndrome per se, as the cause of the elevated sweat chloride concentration. We describe a second example of transient elevation of sweat chloride concentration, which confirms that the malnutrition intrinsic to Mauriac syndrome, rather than the syndrome itself, was the probable cause of elevated sweat chloride values.
Assuntos
Cloretos/análise , Diabetes Mellitus Tipo 1/metabolismo , Diabetes Mellitus/metabolismo , Nanismo/metabolismo , Hepatomegalia/metabolismo , Distúrbios Nutricionais/metabolismo , Obesidade , Suor/química , Criança , Complicações do Diabetes , Diabetes Mellitus Tipo 1/complicações , Nanismo/complicações , Feminino , Hepatomegalia/complicações , Humanos , Distúrbios Nutricionais/complicações , SíndromeRESUMO
Relato de um caso de síndrome de Kniest, ressaltando os aspectos de ordem geral, bucal, psicológicos, como ainda a conduta ao tratamento odontológico
Assuntos
Humanos , Masculino , Criança , Doenças do Desenvolvimento Ósseo/diagnóstico , Nanismo/complicações , Dente Decíduo , Perda de Dente/complicaçõesRESUMO
On the basis of five cases personally observed and one previously reported, we describe a disorder characterized by skeletal dysplasia, rapidly progressive nephropathy, episodes of lymphopenia, and pigmentary skin changes. Defects of T-cell function were compatible with an autoimmune process. The disorder is probably of genetic origin and inherited as an autosomal recessive trait.
Assuntos
Doenças do Desenvolvimento Ósseo/complicações , Nanismo/complicações , Falência Renal Crônica/complicações , Transtornos da Pigmentação/complicações , Antígenos CD/análise , Doenças Autoimunes/congênito , Doenças Autoimunes/genética , Doenças Autoimunes/imunologia , Doenças do Desenvolvimento Ósseo/genética , Doenças do Desenvolvimento Ósseo/imunologia , Osso e Ossos/patologia , Criança , Pré-Escolar , Nanismo/genética , Nanismo/imunologia , Feminino , Humanos , Falência Renal Crônica/genética , Falência Renal Crônica/imunologia , Contagem de Leucócitos , Masculino , Transtornos da Pigmentação/genética , Transtornos da Pigmentação/imunologia , Linfócitos T/imunologia , Linfócitos T/fisiologiaRESUMO
Our experience with 12 patients with metatropic dysplasia has demonstrated two important and treatable complications: odontoid hypoplasia with subluxation of the first and second cervical vertebrae, and ventriculomegaly. Hypoplasia and lack of ossification of the odontoid process were noted in all cases. Subluxation of these two vertebrae was demonstrated in all six patients who had lateral flexion-extension radiographs; three had subluxation even in a neutral position, and sudden odontoid dislocation developed in another after a simple fall. Four individuals have had surgical fusion of the cervical vertebrae; one child died suddenly, 1 week before scheduled surgery. In the three patients in whom computed tomography scans of the head were obtained, enlarged ventricles were found; one had symptomatic increased intracranial pressure and required a shunt. We recommend that odontoid hypoplasia be evaluated in all patients with metatropic dysplasia. If subluxation is proved, atlantoaxial fusion should be performed before damage to the cervical part of the spinal cord results. Serial head circumference measurements and evaluation for hydrocephalus are also recommended.