Síndrome de Savant / Savant syndrome

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[The evaluation of gonadal function in postpubertal patients treated for cryptorchism in childhood]. / Evaluación de la función gonadal en pacientes postpuberales tratados de criptorquidia en la infancia.

OBJECTIVE: Descent of the testes is essential for normal function, with cryptorchidism being associated with defective spermatogenesis. The postpubertal function of cryptorchid testicles seems to be related to the original location of the undescended testis and the age at the moment of treatment. The objective of this study was to evaluate the pubertal development and gonadal function in postpubertal patients treated for cryptorchidism during childhood. PATIENTS AND METHODS: Twenty postpubertal males with a mean age of 17.35 years (range: 15-21 years) and treated for cryptorchidism during childhood were evaluated for pubertal development and gonadal function. A hormonal study which included basal determinations of testosterone, luteinizing hormone (LH) and follicle-stimulating hormone (FSH), testicular volume assessed by Prader's orchidometer and semen analysis was performed on each patient. RESULTS: Complete virilization was observed in all patients. The start and development of puberty were normal in all cases (except one patient that started puberty at 10 years of age). Basal studies in all patients showed normal levels of LH and testosterone. FSH levels were increased in 3 patients and normal in the other 17 patients. Fourteen patients achieved normal spermatogenesis with more than 20 million spermatozoa/ml. In the other 7 patients (35%), 5 with unilateral cryptorchidism and 2 with bilateral cryptorchidism, the sperm count remained below 20 million with a range of 0.8 to 18.4 x 10(6) spermatozoa/ml. The three males with elevated levels of FSH also presented oligospermia. CONCLUSIONS: The results obtained show that pubertal development is normal after cryptorchidism. Impaired spermatogenesis is a major factor in undescended testes. Basal SH levels can be useful in predicting germinal damage secondary to cryptorchidism.

[Septo-optic dysplasia: report of 6 patients studied with MR and discussion on its pathogenesis]. / Displasia septo-óptica: presentación de seis pacientes estudiados mediante RM y discusión de su patogenia.

OBJECTIVE: Septo-optic dysplasia, which consists of the association of the hypoplasia of the optic nerves and the agenesis of the septum pellucidum, is frequently associated with deficiency of hypothalamic releasing factors. In Magnetic Resonance (MR) of these patients, anomalies in the form and size of the pituitary stalk, adenohypophysis and neurohypophysis are found. Some cases show schizencephaly and it has been proposed as an added component of the syndrome by some authors. This fact has been refuted by others. PATIENTS AND METHODS: We present the clinical and neuroanatomic revision of six children with septo-optic dysplasia studied by MR imaging over the last five years in our Department of Neuropediatrics. The aim was, that through the neuroembryological discussion of the morphopathological aspects of the patients, to determine the malformation and the time in which the injury, which was the underlying cause, occurred. RESULTS: From the six cases, in two only disruptive signs were evident with the optic nerves being affected asymmetrically, disruption of the corpus callosum, falx cerebri indemnity and effects in the cortex conformation. This was opposed to the dysgenic features in the other four cases which had no disruptive features. CONCLUSIONS: Our findings suggest that this entity could be the result of at least two different pathogenic processes, that is, a minor form of holoprosencephaly (dysgenesis) or a disruption which, therefore, occurs later in gestation.

[Differentiated thyroid carcinoma in childhood]. / Carcinoma diferenciado de tiroides en la edad pediátrica.

We report the cases of 6 patients, all younger than 14 years of age, with differentiated thyroid carcinoma. None of the patients had a previous history of radiation exposure. All patients presented with an enlarged thyroid gland as a solitary nodule, with or without cervical nodes. The fine-needle aspiration cytological examination was found to be the most sensitive and specific, evidencing 5 pure papillary adenocarcinoma and 1 follicular. Our standard preoperative evaluation included thyroid scintiscan and ultrasound examination, laboratory studies of thyroid function and serum calcitonin, chest x-ray, fine needle aspiration and vocal cord examination. The treatment was total thyroidectomy and bilateral modified neck dissection. A whole body scan (WBS) with 131I was performed 6 weeks after surgery, followed by radioiodine therapy for ablation of thyroid remnants and treatment of metastases when present. Patients then began thyroid replacement treatment. The follow-up of the patients consisted of thyroglobulin and WBS. The microscopic carcinoma was found in the contralateral lobe in 100%. Lung metastases were detected in 2 patients. All of the patients have survived during a follow-up period ranging from 6 to 108 months.

[Graves' disease in childhood]. / Enfermedad de Graves infantil.

Authors describe clinic and therapeutic results in seven hyperthyroid Graves' disease patients between ages of three and a half an 15 and a half (x: 11.2) years relating their results with those of literature. Most peculiar aspects of these cases were pretibial myxedema in two patients and lack of goiter in one of them. Results include T4 greater than 18.5 mcg/100 ml in five, T3 greater than 645 ng/100 in three and a relationship between T3/T4 greater than or equal to 20 in five. These results have been evaluated as signs of a bad prediction. After a two years treatment with antithyroid drugs remission was obtained in five cases, two of which relapsed again (40%). Authors recommend as initial treatment anti-thyroids drugs in high dosages with an individual lasting period of treatment using specific markers of remission (antibodies directed the receptor for TSH, triiodothyronine suppression test, relationship okt4/okt8).

[Recurrence of Cushing's disease in a child after transsphenoidal excision of a pituitary adenoma: hypothalamic change?]. / Recidiva de la enfermedad de Cushing en un niño adenomectomizado por vía transesfenoidal: alteración hipotalámica?

A case of Cushing disease in a 5 4/12 year-old boy is reported. After adenomectomy was performed, he was considered as "cured" but he relapsed after nineteen months. In a second transsphenoidal surgery a 2 X 3 mm piece of pituitary tissue with adenomatous aspect, was removed. It was histologically constituted by normal pituitary cells and Crooke cells. As the patient was in a cortisol-deficient state a remission was established. Nowadays, since the cortisol response to hypoglycemia was positive, we are paying attention to the risk of relapse. We discuss the possibility of a hypothalamic lesion as the cause and different therapeutic strategies in order to be more selective.

[Cushing's disease in childhood: apropos of a case cured after trans-sphenoidal adenomectomy]. / Enfermedad de Cushing en la infancia: a propósito de un caso curado tras adenomectomía transesfenoidal.

Authors describe one case of Cushing's disease in a old eight-year boy, with growth deficiency, pubic hair and obesity. He had hypercortisolism unresponsive to dexamethasone suppression (1 mg). The more interesting fact for localization of the lesion was the more than 50% suppression with 8 mg of dexamethasone, while tomographic studies of sella turcicaland CAT were normal. A 3 mm microadenoma was removed at transsphenoidal surgery. After surgery the patient had diabetes insipida and adrenal insufficiency. One year later all endocrinologic studies were normal. This fact underlines the importance that transsphenoidal surgery can have in the treatment of Cushing's disease.