RESUMO
We report a case of one boy with Niemann-Pick disease (type C). The manifestations are delayed but the clinical evolution is swift.
Assuntos
Doenças de Niemann-Pick/fisiopatologia , Adolescente , Anticonvulsivantes/uso terapêutico , Broncopneumonia/etiologia , Transtornos de Deglutição/etiologia , Nutrição Enteral/métodos , Humanos , Intubação Gastrointestinal , Masculino , Transtornos das Habilidades Motoras/etiologia , Doenças de Niemann-Pick/diagnóstico , Doenças de Niemann-Pick/terapia , Convulsões/terapia , SíndromeRESUMO
We described the case of a thirteen years old boy who came to our observation because of ematuria, orbital oedema, headache and hypertension (with renal symptoms). In few hours this syndrome evolved in a serious hypertensive encephalopathia with convulsions and emiparesis.
Assuntos
Glomerulonefrite/complicações , Encefalopatia Hipertensiva/etiologia , Adolescente , Glomerulonefrite/microbiologia , Humanos , MasculinoRESUMO
We described the case of a newborn, whose mother was affected by anti-phospholipids antibodies syndrome and had previously had several abortions. The newborn presented emispondilitis. (We suppose it is important to notice that cases like this have never been signalled in literature so far).
Assuntos
Síndrome Antifosfolipídica , Complicações na Gravidez , Coluna Vertebral/anormalidades , Anormalidades Congênitas/etiologia , Feminino , Humanos , Recém-Nascido , Masculino , GravidezRESUMO
We reported a case of Prader-Willi Syndrome. The simple chromosomic mapping is negative. The obesity and polifagye is not present (2 years old). The ipotony is improving, this case belongs to a possible light case.
Assuntos
Síndrome de Prader-Willi/diagnóstico , Pré-Escolar , Deleção Cromossômica , Humanos , Hipogonadismo/etiologia , Hipogonadismo/genética , Lactente , Recém-Nascido , Deficiência Intelectual/etiologia , Deficiência Intelectual/genética , Masculino , Síndrome de Prader-Willi/genética , Síndrome de Prader-Willi/psicologiaRESUMO
A case of Jarcho-Levin Syndrome is described which is characterized by severe costo-vertebrate anomalies. In our case signal severe cardiopathy.
Assuntos
Anormalidades Múltiplas , Dedos/anormalidades , Costelas/anormalidades , Coluna Vertebral/anormalidades , Tórax/anormalidades , Anormalidades Múltiplas/diagnóstico por imagem , Feminino , Humanos , Recém-Nascido , Radiografia Torácica , Costelas/diagnóstico por imagem , Coluna Vertebral/diagnóstico por imagem , Síndrome , Tomografia Computadorizada por Raios XRESUMO
Following article describes the case of a child with painful abdominal symptomatology showing characteristics of an acute abdomen. Following the laboratory tests abdominal crises have been classified as vessel occlusion crises with sickle cell anemia.
Assuntos
Abdome Agudo/etiologia , Anemia Falciforme , Anemia Falciforme/diagnóstico , Anemia Falciforme/terapia , Transfusão de Sangue , Criança , Diagnóstico Diferencial , Feminino , Humanos , Penicilina G Benzatina/uso terapêutico , Penicilinas/uso terapêuticoAssuntos
Hipocalcemia , Doenças do Recém-Nascido , Fatores Etários , Gluconato de Cálcio/uso terapêutico , Feminino , Humanos , Hipocalcemia/diagnóstico , Hipocalcemia/tratamento farmacológico , Recém-Nascido , Doenças do Recém-Nascido/diagnóstico , Doenças do Recém-Nascido/tratamento farmacológico , MasculinoRESUMO
OBJECTIVE: The clinical picture of thalassaemia major has changed progressively over the years. Our study is a retrospective analysis of data on growth in a group of patients who have completed puberty spontaneously and have attained their adult height. Our objective was to evaluate the effect of different transfusion regimes and desferrioxamine administration on the growth pattern in beta-thalassaemia major. DESIGN AND PATIENTS: We studied 64 patients (28 males and 36 females). The patients were divided into three groups (A, B and C) according to the different transfusion regimes and the schedules of chelating therapy. Group A consisted of 16 patients who were transfused regularly at low haemoglobin levels (on average 8.5 g/dl) from an early age and started subcutaneous chelation therapy during adolescence. Group B consisted of 19 patients who were transfused regularly at high haemoglobin levels (on average 10 g/dl) from an early age and started subcutaneous therapy during childhood. Group C consisted of 29 patients who were transfused regularly at high haemoglobin levels (on average 10.5 g/dl) from an early age and started subcutaneous chelation therapy very early, at a mean age of 2 years. Standard auxological measurements were made at 3-monthly intervals throughout childhood and puberty until adult height was achieved. For group C patients the data on linear growth are provided only until the age of 12 years. RESULTS: Our study indicates that group A male and female patients did not grow significantly better than those in group B. Group C male and female patients, surprisingly, grew no faster than those who started chelation therapy late in childhood (group A). The most striking feature in the majority of both group A and B patients was reduced spurt in height at puberty. In addition, in both groups, a reduced sitting height due to spinal growth abnormality was found. An inverse correlation between sitting height and serum ferritin levels was observed in group A patients (r = -0.55, P < 0.05), whereas there was a direct correlation in group B patients (r = 0.42, P < 0.05). CONCLUSIONS: These data suggest that an ideal therapeutic regime has yet to be found which avoids the toxic effect of iron overload and on the other hand avoids interference with growth, secondary to desferrioxamine. Therefore we recommend that the growth of thalassaemia patients be monitored routinely at every follow-up visit and documented on growth velocity charts in order to detect early changes in their growth pattern and to establish an appropriate protocol for investigation and treatment.
Assuntos
Transfusão de Sangue , Estatura , Terapia por Quelação , Desferroxamina/administração & dosagem , Ferro , Talassemia beta/terapia , Adulto , Estatura/fisiologia , Feminino , Crescimento/fisiologia , Humanos , Masculino , Puberdade/fisiologia , Estudos Retrospectivos , Resultado do Tratamento , Talassemia beta/fisiopatologiaRESUMO
To obtain further insight into gonadal function, a series of 50 prepubertal patients with beta-thalassaemia major (24 boys and 26 girls) aged from 12.6 to 18 years (mean 15 years) who had received a bone marrow transplantation (BMT) during childhood or the peripubertal period, at the age of 3.6-14.5 years (mean 10.8 years), were periodically re-evaluated at intervals of 6-12 months. The last evaluation was done 1-9 years (mean 4.2 years) after BMT. At each examination we measured height, pubertal stage, plasma gonadotrophins (LH and FSH) before and after the GnRH stimulation test (i.v.), sex steroids (total and free testosterone in males, and 17 beta-oestradiol in females), serum ferritin and bone age. Fourty percent of patients entered or passed through puberty normally despite clinical and hormonal evidence of gonadal dysfunction in most of them. A correlation was not found between the pubertal stage and age at BMT, and no statistical difference between patients who did not enter into puberty and patients with spontaneous pubertal development was found in serum ferritin levels. Our data confirm that gonads in male and female thalassaemic patients are exposed to the cytotoxic effects of the preparative transplant regime with alkylating agents. In some patients absence of pubertal development was due to gonadotrophin insufficiency, probably secondary to previous iron overload. These findings emphasize the need for a vigilant long-term follow up study of thalassaemic patients who have had BMT.
Assuntos
Transplante de Medula Óssea , Puberdade , Talassemia beta/fisiopatologia , Adolescente , Estatura , Criança , Desenvolvimento Infantil , Estradiol/sangue , Feminino , Hormônio Foliculoestimulante/sangue , Seguimentos , Hormônio Liberador de Gonadotropina , Gônadas/fisiopatologia , Humanos , Hormônio Luteinizante/sangue , Masculino , Testosterona/sangue , Talassemia beta/terapiaAssuntos
Purging da Medula Óssea/efeitos adversos , Transplante de Medula Óssea , Bussulfano/efeitos adversos , Ciclofosfamida/efeitos adversos , Puberdade Tardia/etiologia , Talassemia beta/terapia , Adolescente , Criança , Pré-Escolar , Feminino , Hormônio Foliculoestimulante/sangue , Seguimentos , Hormônio Liberador de Gonadotropina , Transtornos do Crescimento/etiologia , Humanos , Imunossupressores , Hormônio Luteinizante/sangue , Masculino , Puberdade Tardia/sangue , Talassemia beta/complicaçõesRESUMO
An uncommon case of aortal coartactation in an adult patient treated, since five years, for hypertension and faintness is described. The surgical treatment led to complete resolution of her symptomatology without drug therapy.
Assuntos
Coartação Aórtica/complicações , Hipertensão/etiologia , Síncope/etiologia , Adulto , Coartação Aórtica/fisiopatologia , Humanos , Hipertensão/fisiopatologia , Masculino , Síncope/fisiopatologiaRESUMO
Red cell carbonic anhydrase isoenzymes I and II have been measured by means of cellulose acetate membrane electrophoresis in patients with chronic renal failure and dependent on periodic hemodialysis; these patients showed a chronic anemia due to many factors. Carbonic anhydrase isoenzymes were higher in uremic and anemic patients than in the controls. Since hemoglobin can act as a protons acceptor from the active site of carbonic anhydrase during the hydratation of CO2 (and vice-versa), the increase of carbonic anhydrase can facilitate, via the Bohr effect, the transfer of the oxygen to the peripheral tissues. Therefore an increase of red cell carbonic anhydrase can constitute a compensating mechanism of anemic hypoxia in uremic patients.