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We present the case of two twin brothers with surfactant protein C deficiency who were treated with hydroxychloroquine for three years, with apparent success. The exact physiopathology of this disease is not known and there is no specific treatment for it. There is merely news from a few previous descriptions in the literature about the use of hydroxychloroquine for surfactant protein C deficiency with satisfactory results. Two years after the treatment was withdrawn, the twins were evaluated once again: they presented no new infections, growth and general state were normal and chest CT showed a notable additional reduction in the interstitial pneumopathy. These data seem to cast some doubt on the efficacy of hydroxychloroquine, and they suggest that the clinical improvement was simply the natural evolution of the disease.

Background: Statins and sildenafil have been shown to exert beneficial effects in cardiac injury. We hypothesized that antenatal maternal administration of simvastatin and/or sildenafil might also promote benefits in cardiac remodeling of congenital diaphragmatic hernia (CDH). Therefore, we performed micro-CT image analysis and histology of the heart after antennal treatment in experimental nitrofen-induced CDH. Methods: At 9.5 days post conception (dpc), pregnant rats were exposed to nitrofen. At 16 and 20 dpc fetuses were treated with simvastatin and/or sildenafil. At 21 dpc postmortem micro-CT and autopsy were performed. Results: All nitrofen-treated fetuses had a lower birth weight compared to controls; in the simvastatin-treated group, a significant improvement in CDH was noted. Impairment of the lung and liver was also noted in CDH. Compared to controls, CDH rats showed lower ventricular mass, with greater left ventricular thickness; simvastatin decreased the ventricular mass and improved wall thickness. CDH rats exhibited myocardial hypotrophy, severe vascular depression in the left ventricle, and intense interstitial edema compared to controls and nitrofen-exposed animals without CDH. In CDH, the cardiac morphology appeared deformed with left ventricular wall verticalization. Simvastatin improved cardiac myocyte appearance and heart morphology. Conclusion: The potential to treat CDH with antenatal simvastatin may improve the management of this malformation.

Introduction: We assessed the post-mortem micro-CT utility to evaluate fetal cardiac impairment in nitrofen-induced congenital diaphragmatic hernia (CDH). Methods: At 9.5d postconception (dpc), pregnant rats were exposed to nitrofen. At +18 and +21dpc, fetuses were harvested by cesarean section. Postmortem micro-CT and autopsy were performed. Fetuses were assigned to three experimental groups: Control group (C), Nitrofen group (N, exposition to nitrofen without CDH), CDH group. Cardio-pulmonary indices were evaluated. Results: An accurate morphological evaluation of the lung and heart was obtained. Early cardiac impairment was present in the N and CDH groups. At term pregnancy, an increased maximum diameter and decreased minimum diameter of the ventricles and increased interventricular septal thickness were noted in CDH. Histology showed a myocardial “disarray” and an high density of mitotic myocytes in CDH at midgestation. Conclusions: The potential utility of post-mortem fetal micro-CT examination in CDH was introduced. The results highlighted the presence of cardiac adaptation in affected fetuses.

Purpose Congenital cystic malformations of the lung are more frequently diagnosed before birth, but guidelines for surgical management of asymptomatic cases are lacking. The aim of this article is to review our 10-year results with antenatally diagnosed congenital cystic adenomatoid malformations (CCAMs) to debate indications for early postnatal surgical management in asymptomatic patients. Method Twenty-four cases were reviewed; of these, 18 were operated on before 15 days of life for respiratory distress or mediastinal shift, whereas 6 were submitted to elective surgery at 3 months of age. Results Twenty lobectomies and 4 atypical resections were performed. Two of the latter required a second surgery for incomplete primary perinatal resection. No postsurgical complications were reported. Nineteen (19/24) of the resected specimens showed signs of chronic inflammation. In the perinatal period, 100% (8 cases) of CCAM type II and 50% (8 cases) of CCAM type I resulted to be inflamed. Of the asymptomatic cases, 50% (3/6) were also found to be affected. No infections were detected at bacteriologic culture and bacterial debris was stained in 3 specimens. Conclusion In this series, a 79% incidence of pulmonary inflammation was detected. The CCAM type II resulted to be always involved in this process of inflammation. This was an unexpected finding, particularly in cases without mediastinal shift or respiratory distress. In light of these results, early postnatal treatment, at around 3 to 6 months of age, could be considered even in asymptomatic patients.

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An 11-year-old boy was admitted to hospital in 1999, because he had been failing to grow over the previous 3 years. His growth curve had fallen from the 55th to the 15th centile during this time. His bone age was 9 years (as judged by the Greulich and Pyle method) and his bodyweight was slightly increased. His performance at school had not changed during this period. The growth curve suggested a growth hormone defect secondary to a pituitary tumour. We did stimulatory tests for growth hormone secretion with clonidine and arginine. Growth hormone was reduced (peak level 2·2 ng/mL), with low concentrations of insulin-like growth factor 1. MRI showed a large pituitary mass typical of a pituitary adenoma (figure). We found nothing abnormal on ophthalmological examination. The patient had no other symptoms or signs of pituitary enlargement. We tested the child’s pituitary function and found very high concentrations of thyroid-stimulating hormone (TSH; 646 mU/L, normal range 0·5–5·0) and very low concentrations of free tri-iodothyronine (0·045 pmol/L; 3·4–6·3) and free thyroxine (0·13 pmol/L; 10·3–19·4). Prolactin was also increased. Concentrations of basal luteinising hormone and follicle-stimulating hormone were in the prepubertal range, and the response to the gonadotropin-releasing hormone test was blunted. Adrenocorticotropic hormone and cortisol were normal. Thyroid antibodies were increased (416 IU/mL, positive when � 75 IU/mL), and ultrasonography showed that the thyroid gland was reduced in volume, with mild dishomogeneity. These findings suggested Hashimoto’s thyroiditis. We started treatment with levothyroxine at a dose of 100 � g per day. After a few days of treatment the patient presented with headache, abdominal pains, nausea, insomnia, and diarrhoea. We reduced the dose and his symptoms regressed. Treatment was then restarted, slowly increasing the dose to 100 � g per day. The patient’s growth velocity increased and his bodyweight decreased. After 6 months of therapy, MRI showed complete regression of the adenoma (figure), and concentrations of TSH and prolactin were in the normal range. Only after 6 years of therapy (in 2005, when the patient was 17 years old) did we observe definitive pubertal development and a complete recovery of growth to the 55th percentile. Our patient was last seen in May, 2005, when he was still taking 175 � g per day of levothyroxine. We suggest that the patient’s hypothyroidism was caused by transitory damage of the pituitary, secondary to the compressive effect of adenomatous hyperplasia of the TSH cells, with slow progression of growth and development. A pituitary adenoma may be secondary to target-organ failure: ovary, adrenal, or thyroid insufficiency. In the past 30 years, non-functional pituitary adenomas have been described in only a few patients younger than 10 years; of 16 patients, most of whom were female, affected by primary hypothyroidism, 1 only three had