ABSTRACT
OBJECTIVES@#To study the factors influencing the short-term (28 days) efficacy of initial adrenocorticotropic hormone (ACTH) therapy for infantile epileptic spasms syndrome (IESS), as well as the factors influencing recurrence and prognosis.@*METHODS@#The clinical data were collected from the children with IESS who received ACTH therapy for the first time in the Department of Pediatric Neurology, Xiangya Hospital of Central South University, from April 2008 to January 2018 and were followed up for ≥2 years. The multivariate logistic regression analysis was used to evaluate the factors influencing the short-term efficacy of ACTH therapy, recurrence, and long-term prognosis.@*RESULTS@#ACTH therapy achieved a control rate of seizures of 55.5% (111/200) on day 28 of treatment. Of the 111 children, 75 (67.6%) had no recurrence of seizures within 12 months of follow-up. The possibility of seizure control on day 28 of ACTH therapy in the children without focal seizures was 2.463 times that in those with focal seizures (P<0.05). The possibility of seizure control on day 28 of ACTH therapy in the children without hypsarrhythmia on electroencephalography on day 14 of ACTH therapy was 2.415 times that in those with hypsarrhythmia (P<0.05). The possibility of recurrence within 12 months after treatment was increased by 11.8% for every 1-month increase in the course of the disease (P<0.05). The possibility of moderate or severe developmental retardation or death in the children without seizure control after 28 days of ACTH therapy was 8.314 times that in those with seizure control (P<0.05). The possibility of moderate or severe developmental retardation or death in the children with structural etiology was 14.448 times that in those with unknown etiology (P<0.05).@*CONCLUSIONS@#Presence or absence of focal seizures and whether hypsarrhythmia disappears after 14 days of treatment can be used as predictors for the short-term efficacy of ACTH therapy, while the course of disease before treatment can be used as the predictor for recurrence after seizure control by ACTH therapy. The prognosis of IESS children is associated with etiology, and early control of seizures after ACTH therapy can improve long-term prognosis.
Subject(s)
Child , Humans , Infant , Adrenocorticotropic Hormone/therapeutic use , Spasms, Infantile/drug therapy , Treatment Outcome , Seizures , Electroencephalography/adverse effects , Spasm/drug therapyABSTRACT
OBJETIVO: Determinar los riesgos y beneficios del uso de vigabatrina comparada con hormona adrenocorticotrópica (ACTH) para el tratamiento de espasmos infantiles. MÉTODO: Se realizó una búsqueda en Epistemonikos. Se extrajeron datos desde las revisiones identificadas. Se realizó un metaanálisis a partir de estudios primarios y se utilizó el método GRADE para la presentación de resultados. RESULTADOS: Se identificaron nueve revisiones sistemáticas. Se observó que el uso de vigabatrina en comparación con ACTH disminuye la resolución de espasmos (RR 0,8, IC 95% 0,65 - 0,98) y podría disminuir la resolución de hipsarritmia (RR 0,71, IC 95% 0,48 - 1,05). No fue posible determinar si el uso de vigabatrina disminuye el riesgo de desarrollar efectos adversos (RR 0,75, IC 95% 0,23 - 2,45) por certeza de evidencia muy baja. CONCLUSIONES: La evidencia parece inclinarse a favor del uso de ACTH. Sin embargo debe considerarse la necesidad de nuevas investigaciones para esclarecer su seguridad.
OBJECTIVE: To determine the risks and benefits of the use of vigabatrin compared to ACTH for the treatment of infantile spasms. METHOD: A search in Epistemonikos was performed. Data were extracted from the identified reviews. A meta-analysis was performed from primary studies and the GRADE method was used to present the results. RESULTS: Nine systematic reviews were identified. Vigabatrin use compared to ACTH was found to decrease resolution of spasms (RR 0.8, 95% CI 0.65 - 0.98) and might decrease resolution of hypsarrhythmia (RR 0.71, 95% CI 0 .48 - 1.05). It was not possible to determine whether the use of vigabatrin reduces the risk of developing adverse effects (RR 0.75, 95% CI 0.23 - 2.45) due to very low certainty of evidence. CONCLUSIONS: The evidence seems to lean in favor of the use of ACTH. However, the need for new research should be considered to clarify its safety.
Subject(s)
Humans , Spasms, Infantile/drug therapy , Adrenocorticotropic Hormone/therapeutic use , Vigabatrin/therapeutic use , Anticonvulsants/therapeutic use , GRADE ApproachABSTRACT
Objective: To investigate the efficacy and safety of adrenocorticotropic hormone (ACTH) in children with frequently relapsing or steroid-dependent nephrotic syndrome. Methods: The clinical data of 38 children with frequently relapsing or steroid-dependent nephrotic syndrome who were admitted to the Department of Nephrology, the Children Hospital, Zhejiang University School of Medicine from January 2015 to December 2020 were retrospectively analyzed. The general information, clinical manifestations, laboratory data of the children and follow-up (till 12 months after treatment) were collected. The patients were divided into ACTH group and Glucocorticoid (GC) group according to treatment plan. Cumulative remission, average recurrence rate, GC dosage, height and weight change and peripheral blood CD19+B lymphocyte count were compared between the two groups to evaluate the efficacy and adverse reactions of ACTH. Fisher's exact test, t test or rank sum test was used for comparison between groups. Results: Among the 38 patients, 28 were male and 10 were female, aged 84 (24, 180) months; 19 were in ACTH group and 19 were in GC group. The cumulative remission rate of 12 months in ACTH group was higher than that in GC group (9/19 vs. 2/19,χ²=6.81,P=0.009), the average recurrence rate was lower than that in GC group ((0.7±0.8) vs. (1.7±1.1) times, t=-3.27, P=0.011), and the average dosage of GC was lower than that in GC group ((0.27±0.16) vs. (0.51±0.27) mg/(kg·d), t=-3.21, P=0.014). The increase in height was higher than that in the GC group (4 (3,5) vs. 3 (2, 3) cm/year, Z=2.58, P=0.010), and the peripheral blood CD19+B lymphocyte count was lower than that in the GC group ((223±149)×106 vs. (410±213)×106/L,t=-3.35, P=0.009). In safety, 19 cases had transient decreased urine volume, 7 cases had hyperglycemia, and 3 cases had hypertension during the infusion of ACTH, which could be relieved after drug withdrawal. Conclusion: ACTH has a better effect on children with frequently relapsing or steroid-dependent nephrotic syndrome, which can improve cumulative sustained remission rate, lower relapses rate and decrease the dosage of GC, with good safety.
Subject(s)
Adolescent , Child , Child, Preschool , Female , Humans , Male , Adrenocorticotropic Hormone/therapeutic use , Glucocorticoids/therapeutic use , Immunosuppressive Agents/therapeutic use , Nephrotic Syndrome/drug therapy , Recurrence , Retrospective Studies , Steroids , Treatment OutcomeABSTRACT
Pituitary immune-related adverse events induced by programmed cell death protein 1 inhibitors in advanced lung cancer patients: A report of 3 cases SUMMARY Programmed cell death protein 1 (PD-1) and its ligand 1 (PD-L1) have been widely used in lung cancer treatment, but their immune-related adverse events (irAEs) require intensive attention. Pituitary irAEs, including hypophysitis and hypopituitarism, are commonly induced by cytotoxic T lymphocyte antigen 4 inhibitors, but rarely by PD-1/PD-L1 inhibitors. Isolated adrenocorticotropic hormone(ACTH) deficiency (IAD) is a special subtype of pituitary irAEs, without any other pituitary hormone dysfunction, and with no enlargement of pituitary gland, either. Here, we described three patients with advanced lung cancer who developed IAD and other irAEs, after PD-1 inhibitor treatment. Case 1 was a 68-year-old male diagnosed with metastatic lung adenocarcinoma with high expression of PD-L1. He was treated with pembrolizumab monotherapy, and developed immune-related hepatitis, which was cured by high-dose methylprednisolone [0.5-1.0 mg/(kg·d)]. Eleven months later, the patient was diagnosed with primary gastric adenocarcinoma, and was treated with apatinib, in addition to pembrolizumab. After 17 doses of pembrolizumab, he developed severe nausea and asthenia, when methylprednisolone had been stopped for 10 months. His blood tests showed severe hyponatremia (121 mmol/L, reference 137-147 mmol/L, the same below), low levels of 8:00 a.m. cortisol (< 1 μg/dL, reference 5-25 μg/dL, the same below) and ACTH (2.2 ng/L, reference 7.2-63.3 ng/L, the same below), and normal thyroid function, sex hormone and prolactin. Meanwhile, both his lung cancer and gastric cancer remained under good control. Case 2 was a 66-year-old male with metastatic lung adenocarcinoma, who was treated with a new PD-1 inhibitor, HX008, combined with chemotherapy (clinical trial number: CTR20202387). After 5 months of treatment (7 doses in total), his cancer exhibited partial response, but his nausea and vomiting suddenly exacerbated, with mild dyspnea and weakness in his lower limbs. His blood tests showed mild hyponatremia (135 mmol/L), low levels of 8:00 a.m. cortisol (4.3 μg/dL) and ACTH (1.5 ng/L), and normal thyroid function. His thoracic computed tomography revealed moderate immune-related pneumonitis simultaneously. Case 3 was a 63-year-old male with locally advanced squamous cell carcinoma. He was treated with first-line sintilimab combined with chemotherapy, which resulted in partial response, with mild immune-related rash. His cancer progressed after 5 cycles of treatment, and sintilimab was discontinued. Six months later, he developed asymptomatic hypoadrenocorticism, with low level of cortisol (1.5 μg/dL) at 8:00 a.m. and unresponsive ACTH (8.0 ng/L). After being rechallenged with another PD-1 inhibitor, teslelizumab, combined with chemotherapy, he had pulmonary infection, persistent low-grade fever, moderate asthenia, and severe hyponatremia (116 mmol/L). Meanwhile, his blood levels of 8:00 a.m. cortisol and ACTH were 3.1 μg/dL and 7.2 ng/L, respectively, with normal thyroid function, sex hormone and prolactin. All of the three patients had no headache or visual disturbance. Their pituitary magnetic resonance image showed no pituitary enlargement or stalk thickening, and no dynamic changes. They were all on hormone replacement therapy (HRT) with prednisone (2.5-5.0 mg/d), and resumed the PD-1 inhibitor treatment when symptoms relieved. In particular, Case 2 started with high-dose prednisone [1 mg/(kg·d)] because of simultaneous immune-related pneumonitis, and then tapered it to the HRT dose. His cortisol and ACTH levels returned to and stayed normal. However, the other two patients' hypopituitarism did not recover. In summary, these cases demonstrated that the pituitary irAEs induced by PD-1 inhibitors could present as IAD, with a large time span of onset, non-specific clinical presentation, and different recovery patterns. Clinicians should monitor patients' pituitary hormone regularly, during and at least 6 months after PD-1 inhibitor treatment, especially in patients with good oncological response to the treatment.
Subject(s)
Aged , Humans , Male , Middle Aged , Adenocarcinoma of Lung/drug therapy , Adrenocorticotropic Hormone/therapeutic use , B7-H1 Antigen/therapeutic use , Hydrocortisone/therapeutic use , Hyponatremia/drug therapy , Hypopituitarism/drug therapy , Immune Checkpoint Inhibitors , Lung Neoplasms/pathology , Methylprednisolone/therapeutic use , Nausea/drug therapy , Pituitary Gland/pathology , Pneumonia , Prednisone/therapeutic use , Programmed Cell Death 1 Receptor/therapeutic use , Prolactin/therapeutic useABSTRACT
Los glucocorticoides participan en importantes procesos biológicos del organismo. El síndrome de resistencia a los glucocorticoides, o síndrome de Chrousos, es una afección genética causada por mutaciones en el gen del receptor de los glucocorticoides humano. Se caracteriza por la disminución en la sensibilidad tisular al cortisol, con aumento compensatorio en la actividad del eje hipotálamo-hipófisis-adrenal, lo que provoca una elevación de los mineralocorticoides, el cortisol y los andrógenos suprarrenales. El cuadro clínico es variable: asintomático, leve, o con manifestaciones más graves, con hipertensión e hiperandrogenismo. Para el diagnóstico, deben estar ausentes las manifestaciones cushingoides, y demostrarse el hipercortisolismo bioquímico, y la resistencia del eje hipotálamo-hipófisis-adrenal a la supresión con dexametasona. El objetivo del tratamiento es frenar la secreción excesiva de la hormona adrenocorticotropa mediante glucocorticoides que no tengan actividad mineralocorticoide, como es el caso de la dexametasona. En el futuro se espera estén disponibles terapias que permitan corregir directamente los defectos genéticos en el gen del receptor de los glucocorticoides humano(AU)
Glucocorticoids are involved in important biological processes of the body. The glucocorticoid resistance syndrome or Chrousos's syndrome is a genetic disease caused by the human glucocorticoid receptor gene mutations. It is characterized by reduced tissue sensitivity to cortisol and compensatory increase of the hypothalamus-hypophysis-adrenal axis activity, which leads to a rise of minrealocorticoids, cortisol and adrenal androgens levels. The clinical picture is variable, going from asymptomatic, mild or severe manifestations to hypertension and hyperandrogenism. For a right diagnosis, there should be no Cushing-like manifestations and biochemical hypercortisolism as well as hypothalamus-hypophysis-adrenal axis resistance to dexamethasone suppression have to be proven. The objective of the treatment is to halt the excessive secretion of the adrenocorticotrope hormone through glucocorticoids that do not present mineralocorticoid action as it happens with dexamethasone. In the near future, corrective therapies are expected to be available in order to directly fix genetic defects in the human glucocorticoid receptor gen(AU)
Subject(s)
Humans , Dexamethasone/therapeutic use , Adrenocorticotropic Hormone/therapeutic use , Receptors, GlucocorticoidABSTRACT
Adrenocorticotropic hormone (ACTH) has a long track record for the treatment of infantile spasms. However, there is paucity of data on the use of ACTH in the treatment of epilepsy beyond infantile spasms. We report the use of ACTH in two children with refractory generalized epilepsy. Both patients responded well. ACTH may be considered as a useful adjunctive therapy in patients with intractable generalized seizures. Side effects and cost however, remain important concerns.
Subject(s)
Adrenocorticotropic Hormone/therapeutic use , Child , Child, Preschool , Electroencephalography , Epilepsy, Generalized/diagnosis , Epilepsy, Generalized/drug therapy , Humans , MaleABSTRACT
OBJECTIVES: To assess the seizure and developmental outcome in children with West syndrome with respect to treatment lag. METHODS: Twenty-six children satisfying inclusion criteria of West syndrome i.e., infantile spasms, psychomotor retardation and abnormal EEG pattern were prospectively evaluated. Response to treatment was assessed based on seizure control, EEG, developmental assessment and parental observations. RESUltS: The time lag from onset of seizures to appropriate treatment was <1 month in 11 children; 1-6 months in 8 children; and >6 months in 7 children. Children with treatment lag <1 month fared better than those who had a large treatment lag (P<0.05). Children with good seizure control also showed better developmental improvement (P<0.05). CONCLUSION: Children with West syndrome have better seizure control and development, if the treatment is started within 1 month of onset of symptoms.
Subject(s)
Adrenocorticotropic Hormone/therapeutic use , Anticonvulsants/therapeutic use , Brain/physiopathology , Child, Preschool , Cognition Disorders/diagnosis , Electroencephalography , Female , Humans , Infant , Male , Neuropsychological Tests , Prospective Studies , Severity of Illness Index , Spasms, Infantile/complications , Valproic Acid/therapeutic useABSTRACT
A healthy 5 year old boy developed aphasia, attention disorder and hyperkinesia preceded by transient formed visual hallucinations and emotional outburst, immediately after a stressful event of forced separation from his father. EEG showed generalized epileptiform activity. He was diagnosed as Landau-Kleffner syndrome (LKS). CT and MRI of the brain were normal. SPECT showed left mesial temporal hypoperfusion. He improved on antiepileptics and ACTH.
Subject(s)
Adrenocorticotropic Hormone/therapeutic use , Anticonvulsants/therapeutic use , Child, Preschool , Electroencephalography , Humans , Landau-Kleffner Syndrome/diagnosis , Male , Tomography, Emission-Computed, Single-PhotonSubject(s)
Humans , Infant , Female , Spasms, Infantile/complications , Corpus Callosum/abnormalities , Eye Abnormalities/complications , Spasms, Infantile/diagnosis , Spasms, Infantile/etiology , Chorioretinitis/complications , Chorioretinitis/etiology , Adrenocorticotropic Hormone/therapeutic use , Fundus Oculi , Intellectual Disability/complications , Intellectual Disability/etiologyABSTRACT
Em estudo retrospectivo avaliamos a evoluçao clínica e eletrencefalográfica das formas criptogênica e sintomática da síndrome de West e analisamos a eficácia do hormônio adrenocorticotrófico, vigabatrina, prednisona, ácido valpróico e nitrazepam no controle dos espasmos. Participaram do estudo 70 pacientes, acompanhados por período maior que 2 anos. Doze (17 por cento) eram criptogênicos e 58 (83 por cento) sintomáticos. O grupo criptogênico apresentou percentagem significativamente maior de pacientes que frequentavam escola regular e desenvolvimento motor normal, melhor controle das crises epilépticas, tendência menor a evoluir para síndrome de Lennox Gastaut e 83,3 por cento tiveram controle completo dos espasmos (72,4 por cento dos pacientes do grupo sintomático obtiveram controle completo dos espasmos). O hormônio adrenocorticotrófico e a vigabatrina foram as drogas mais eficazes, controlando 68,75 por cento e 60 por cento dos espasmos, respectivamente, quando utilizados como droga de primeira escolha e 75 por cento e 50 por cento, respectivamente, como drogas de segunda escolha
Subject(s)
Humans , Male , Female , Child, Preschool , Child , Adolescent , Adult , Adrenocorticotropic Hormone/therapeutic use , Anticonvulsants/therapeutic use , Glucocorticoids/therapeutic use , Prednisone/therapeutic use , Spasms, Infantile/drug therapy , Electroencephalography , Follow-Up Studies , Nitrazepam/therapeutic use , Retrospective Studies , Treatment Outcome , Valproic Acid/therapeutic use , Vigabatrin/therapeutic useABSTRACT
Os espasmos infantis são crises típicas da primeira infância e constituem patologia grave, com prognóstico sombrio. Apresentamos a experiência no tratamento de 13 casos novos atendidos no Serviço de Neurologia Infantil do Centro Geral de Pediatria FHEMIG de Belo Horizonte no ano de 1997, bem como revisão da literatura sobre o assunto. Após propedêutica adequada encontramos 12 casos considerados sintomáticos e 1 criptogenético. Todos os casos foram tratados com ACTH durante 6 semanas, associado a drogas antiepilépticas orais de manutenção em mono ou politerapia. Os resultados com o ACTH foram excelentes num momento inicial, com resposta completa em todos os casos e efeitos colaterais que não contra-indicaram o tratamento. Porém houve índice de recorrência de 55 por cento, sendo usada como droga de segunda linha a vigabatrina em 5 casos, com controle de 4 deles. Todos os casos apresentaram atraso do desenvolvimento neuropsicomotor.
Subject(s)
Humans , Male , Female , Infant , Adrenocorticotropic Hormone/therapeutic use , Anticonvulsants/therapeutic use , Spasms, Infantile/drug therapy , Vigabatrin/therapeutic use , Prognosis , Recurrence , Spasms, Infantile/diagnosis , Spasms, Infantile/etiology , Treatment OutcomeSubject(s)
Humans , Male , Female , Adrenocorticotropic Hormone/therapeutic use , Anesthesia, Spinal/adverse effects , Caffeine/therapeutic use , Cerebrospinal Fluid/metabolism , Sodium Chloride/therapeutic use , Dextrans/therapeutic use , Dura Mater/pathology , Epidural Space , Fluid Therapy , Headache/chemically induced , Headache/etiology , Headache/prevention & control , Needles , Sumatriptan/therapeutic use , TravelABSTRACT
La encefalopatía opsomioclónica infantil o síndrome de Kinsbourne, es una entidad poco frecuente, que asocia clínicamente opsoclonus, polimioclonias y ataxia. Existen casos idiopáticos o vinculados a infecciones virales o a neuroblastoma. Se presenta el caso de una niña de 13 meses, que instala en forma aguda dicha sintomatología. Los estudios etiológicos confirman la presencia de un neuroblastoma torácico. Se realiza la resección tumoral y hormonoterapia, con buena respuesta clínica inicial. Presentamos la revisión bibliográfica, comentando los aspectos más importantes de la enfermedad
Subject(s)
Humans , Female , Infant , Brain Diseases/drug therapy , Brain Diseases/etiology , Neuroblastoma/complications , Neuroblastoma/surgery , Thoracic Neoplasms/complications , Thoracic Neoplasms/surgery , Adrenocorticotropic Hormone/therapeutic use , Brain Diseases/physiopathology , Myoclonus/etiologyABSTRACT
La clasificación de síndromes epilépticos es un apoyo útil para la epileptología pediátrica y de los adolescentes por que favorece s detección oportuno. De acuerdo a su expresión clínica, los síndromes epilépticos se clasifican en crisis localizadas y generalizadas. Respecto a su etiología, ellos se dividen en idiopáticos y sintomáticos. Aquí se describen los síndromes pediátricos mejor conocidos que se analizan de acuerdo a la edad de prevención, las manifestaciones clínicas, las características de encefalograma EEG y la respuesta positiva al tratamiento farmacológico, sobre todo al valproato. No obstante, en algunos casos, las crisis son resistentes al tratamiento, lo que hace necesaria la investigación de nuevos fármacos
Subject(s)
Valproic Acid/therapeutic use , Adrenocorticotropic Hormone/therapeutic use , Anticonvulsants , Carbamazepine/therapeutic use , Epilepsy/physiopathology , Status Epilepticus/classification , Spasms, Infantile/therapyABSTRACT
Los niños con encelopatias cronicas pueden presentar retraso del desarrollo psicomotor y en algun momento de su evolucion, crisis de espasmos con tazado electroencefalografico hipsarritmico, constituyendo un sindrome de west sintomatico. Presentamos un analisis y seguimiento evolutivo de 9 niños que, si presentaron hipsarritmia, no sufrieron espasmos. Prevaleciendo en mujeres (8:1), la hipsarritmia comenzo en la mayoria de los pacientes (77.8 por ciento) antes de los meses. El factor etiologico fue, en todos los pacientes, un daño encefalico previo. Clinicamente los niños presentaron examen neurologico anormal, solo 6 niños presentaron convulciones y ninguno presento crisis de espasmos. Los electroencefalogramas mostraron algun tipo de hipsarritmia. Se evalua el resultado del tratamiento con ACTH instaurado. Resaltamos la existencia de hipsarritmia sin crisis de espasmos y destacamos que 3 niños de nuestra serie presentaron, como caracteristica propia distintiva, la ausencia de manifestaciones convulsivas
Subject(s)
Humans , Child , Spasms, Infantile/complications , Spasms, Infantile/diagnosis , Spasms, Infantile/etiology , Spasms, Infantile/nursing , Spasms, Infantile/pathology , Adrenocorticotropic Hormone , Adrenocorticotropic Hormone/adverse effects , Adrenocorticotropic Hormone/analysis , Adrenocorticotropic Hormone/chemical synthesis , Adrenocorticotropic Hormone/pharmacology , Adrenocorticotropic Hormone/therapeutic use , Adrenocorticotropic Hormone/toxicityABSTRACT
Se analizaron 22 historias clínicas con diagnóstico de Síndrome de West, que ingresaron en las Clínicas Pediátricas "B" y "C" del Centro Hospitalario Pereira Rossell en el período de 2 años. Representaron el 9.5 por ciento de las epilepsias infantiles. El rango etario fue de 1 a 10 meses. La demora en el diagnóstico fue promedialmente de 1 mes. Las hipótesis diagnósticas iniciales fueron erróneas en el 72 por ciento de los niños. El 77 por ciento de los casos fueron de causa sintomática. El EEG inicial fue normal en el 9 por ciento de los niños. La terapéutica controló los espasmos infantiles en el 64 por ciento de los casos. El 80 por ciento de los niños presentaron secuelas. La ausencia de secuelas se asocian en forma significativa con West idiopáticos. Concluimos en la importancia de promover el diagnóstico y tratamiento precoz de esta entidad, pues del mismo dependerá el futuro de estos niños, especialmente los idiopáticos
Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Spasms, Infantile , Adrenocorticotropic Hormone/therapeutic use , Clonazepam/therapeutic use , Prednisone/therapeutic use , Spasms, Infantile/complications , Spasms, Infantile/diagnosis , Spasms, Infantile/drug therapy , Spasms, Infantile/etiologyABSTRACT
Se describen dos niñas con crisis epilépticas en los primeros meses de vida, que evolucionaron a espasmos infantiles; agenesia de cuerpo calloso; coriorretinopatía caracterizada por atrofia lacunar; severo retardo del desarrollo psicomotor y malformaciones vertebrales, asociación que corresponde al síndrome de Aicardi, de herencia dominante ligado al cromosoma X y probablemente producido por una mutación reciente. Puesto que los criterios mayores que definen el síndrome pueden verse también, cuando aparecen por separado, en otras afecciones genéticas o metabólicas, es necesario efectuar un cuidadoso diagnóstico diferencial
Subject(s)
Infant , Chorioretinitis/complications , Corpus Callosum/abnormalities , Spasms, Infantile/complications , Adrenocorticotropic Hormone/therapeutic use , Diagnosis, Differential , Eye Abnormalities , Fundus OculiABSTRACT
Um pseudohermafrodita masculino de 14 anos de idade apresentou-se com hipertensäo sistêmica e hipocalemia. Níveis plasmáticos de progesterona, deoxicorticosterona, corticosterona, 18-hidroxicorticosterona e 18-hidroxideoxicorticosterona encontravam-se elevados, enquanto os de cortisol, aldosterona e de andrógenos estavam todos reduzidos. Estímulo com ACTH produziu incrementos adicionais nos níveis dos esteróides já elevados mas näo nos de cortisol, aldosterona e andrógenos. Supressäo aguda e prolongada (1 mês) do ACTH endógeno com dexametasona normalizaram os níveis plasmáticos dos esteróides elevados. Estímulo postural näo elevou significativamente os níveis de aldosterona. Estruturas gonadais removidas durante cirurgia revelaram testículos com espessamento da túnica albugínea e atrofia dos túbulos seminíferos. A terapia de reposiçäo prolongada (6 meses) com glicocorticóides e estrógenos normalizou a pressäo sanguínea e os níveis séricos de potássio, e produziu um desenvolvimento mamário adequado.
Subject(s)
Humans , Male , Adolescent , Adrenal Hyperplasia, Congenital/etiology , Disorders of Sex Development , Hypertension/etiology , Hypokalemia/etiology , Steroid 17-alpha-Hydroxylase/deficiency , Adrenocorticotropic Hormone/therapeutic use , Disorders of Sex Development/pathology , Estrogens/therapeutic use , Glucocorticoids/therapeutic use , Hypertension/drug therapy , Hypokalemia/drug therapyABSTRACT
Diez lactantes portadores de espasmos masivos (EM) e hispsarritmia recibieron un esquema de tratamiento con ACTH sintético 0,05 mg*kg*dosis 3 veces por semana por 2 semanas. En seis casos se obtuvo remisión completa de las crisis y cambios dramáticos en el electroencefalograma, en tres casos hubo una respuesta parcial. En cinco casos la respuesta completa ocurrió durante la primera semana de tratamiento. Se observó una relación significativa entre precocidad del tratamiento y respuesta favorable (Fisher p < 0,02). Este esquema de tratamiento no produjo efectos laterales severos en paciente alguno. Durante el seguimiento (X: 6,2 meses) se observó recaída en un caso de respuesta completa, en tanto que cinco pacientes mantienen su respuesta inicial con un desarrollo normal o levemente retardado. Los cinco pacientes restantes presentan un retardo severo y crisis de difícil tratamiento. Futuros estudios debieran abordar la eficacia de otros esquemas de tratamiento, balanceando éxito y efectos laterales