RESUMO
BACKGROUND: Severe prolonged hypocalcemia may occur in neonates whose parathyroid hormone production has been blocked by maternal hyperparathyroidism. This report describes such a case. CASE REPORT: A 7 day-old girl was admitted suffering from dyspnea and repeated convulsions that had continued for 2 days. Her birthweight was 3,500 g and her height 50 cm. Her mother had been given an iron preparation and calcium during pregnancy. Clinical examination of the newborn at birth revealed a cleft palate and micrognathia. The baby had been given milk-formula plus ergocalciferol, 1,200 IU/day. At admission, the baby was hypotonic. Her serum total calcium was 1.27 mmol/l; total proteins 61 g/l; ionized calcium 1.1 mmol/l; phosphorus 2.14 mmol/l; intact PTH 21 pg/ml (N = 10-65) and 25(OH)D 8 ng/ml (N = 8-30). She was given intravenous calcium gluconate (1 g/m2/d), diazepam (0.5 mg/kg) rectally, intravenous phenobarbital (20 mg/kg) but intravenous phenytoin was needed to stop clinical and electrical seizures. Her blood calcium was normalized 5 days later. Her mother, who was clinically normal, had: total serum calcium: 2.72 and 2.77 mmol/l; total proteins: 71 g/l; phosphorus: 0.85 mmol/l; intact PTH: 73 pg/ml; 25(OH)D: 6 ng/ml; Ultrasonography showed an adenoma of the right parathyroid. Further studies on the baby showed no signs of Di George syndrome. CONCLUSION: Neonatal hypocalcemia always requires investigation of both the infant and mother. Measurements of vitamin D metabolites and intact PTH are required to recognize maternal hyperparathyroidism.
Assuntos
Hiperparatireoidismo/complicações , Hipoparatireoidismo/etiologia , Convulsões/etiologia , Feminino , Humanos , Hipocalcemia/etiologia , Recém-Nascido , Troca Materno-Fetal , GravidezRESUMO
BACKGROUND: An enzyme deficiency can be demonstrated in 15 to 20% of cases of Leigh syndrome. A case of isolated sulphite oxidase deficiency is reported in a girl presenting with Leigh syndrome. CASE REPORT: An 8 month-old girl was admitted suffering from hypotonia and slow increase of head circumference (-1 SD). Examination showed spastic quadriplegia, dyskinesia, axial hypotonia and difficulties in swallowing. The patient had a coarse face, broad nasal bridge, long philtrum and ectopia lentis. Brain CT scan showed bilateral hypodensity of lenticular nuclei and moderate cortical atrophy. Amino acid chromatography showed accumulation of S sulfocysteine and low levels of cysteine. The sulphite test was positive. Sulphite oxidase activity in fibroblasts and liver was undetectable contrasting with a normal activity of xanthine oxidase. Progressive brain damage led to death at 1 year of age. Prenatal diagnosis of sulphite oxidase deficiency was made in two further pregnancies. CONCLUSIONS: The search for sulphite oxidase deficiency must be included in discussing the etiology of Leigh syndrome; the sulphite test is a simple method of screening such cases.
Assuntos
Doença de Leigh/enzimologia , Oxirredutases atuantes sobre Doadores de Grupo Enxofre/deficiência , Diagnóstico Diferencial , Feminino , Humanos , Lactente , Doença de Leigh/diagnóstico , Síndrome , Tomógrafos ComputadorizadosRESUMO
BACKGROUND: Dermatitis herpetiformis (DH) is a chronic papulovesicular immune-mediated disorder associated with gluten-sensitive enteropathy. We report eight cases in which DH appeared many years after celiac disease (CD) in child. PATIENTS AND METHODS: The diagnosis of CD was based on histological features of total or subtotal villous atrophy, full remission after withdrawal of gluten from the diet, and eventually circulating antibodies (IgA gliadin, antireticulin and antiendomysium) at the time of diagnosis and their disappearance under gluten-free diet. The diagnosis of DH was made from clinical findings, histological examination of the involved skin and direct immunofluorescence microscopy of normal or perilesional skin. HLA class II typing was performed in five patients. DRB1, DQA1, DQB1 and DBP1 alleles were studied. RESULTS: DH appeared between 3 and 22 years after the initial diagnosis of CD. Five patients did not show at that time any digestive symptoms. In three cases, a break in the gluten-free diet or a recent revival of the normal diet preceded the rash. In only one case, DH appeared while the patient was under gluten-free diet. In three patients, the rash appeared many years after the gluten-free diet had been stopped. Phenotype DR3 and/or DR7 of the celiac disease could be found in four of the five patients studied; three of them were found to bear DQW2. The DR2 allele was not found in any of the five tested patients. DISCUSSION: These eight cases illustrate the absence of precise nosological barrier between gluten-sensitive enteropathy of the DH and that observed in CD. The presence of the DR7 allele, and especially the absence of the DR2 allele, could explain the particularly severe and symptomatic course of the enteropathy in these patients. The delay in the appearance of DH, after a very variable period of normal diet, could correspond to the necessary time for progressive accumulation of IgA (or immune complex IgA-gluten) in the skin after a digestive sensitization to gluten. The preventive role of gluten-free diet is thus probable. CONCLUSION: CD and DH likely correspond to two different stages of the same disease, thus requiring a prolonged follow-up of both digestive and skin tissues. Long-term eviction of gluten to prevent eventual DH must be balanced with the demand and the cost of such a diet.