Arachnoid cyst: adversity ans plasticity

We report four cases of surgically treated intracranial arachnoid cysts, one with cyst-peritoneal shunt and three with craniotomy and arachnoid membrane resection. Their classification and etiopathogeny are discussed, and especially the different methods of treatment comparing the drastic complications (adversities) with the favorable solutions in severe clinical cases (plasticity) treated at our institution.

Novel DMRT1 3'UTR+11insT mutation associated to XY partial gonadal dysgenesis

The Y-chromosome-located SRY gene encodes a small testis-specific protein containing a DNA-binding motif known as the HMG (high mobility group) box. However, mutations in SRY are not frequent especially in cases of 46,XY partial gonadal dysgenesis. Several sex-determining genes direct the fate of the bipotential gonad to either testis or ovary. In addition, heterozygous small deletions in 9p can cause complete and partial XY gonadal dysgenesis without other symptoms. Human DMRT1 gene, which is located at 9p24.3, is expressed in testis and ovary and has been considered, among others, a candidate autosomal gene responsible for gonadal dysgenesis. In this report we describe a nucleotide insertion in DMRT1 3'UTR in a patient of XY partial gonadal dygenesis. The 3'UTR+11insT is located within a conserved motif important for mRNA stabilization.

The use of fluorescence in situ hybridization in the diagnosis of hidden mosaicism: apropos of three cases of sex chromosome anomalies

FISH has been used as a complement to classical cytogenetics in the detection of mosaicism in sex chromosome anomalies. The aim of this study is to describe three cases in which the final diagnosis could only be achieved by FISH. Case 1 was an 8-year-old 46,XY girl with normal female genitalia referred to our service because of short stature. FISH analysis of lymphocytes with probes for the X and Y centromeres identified a 45,X/46,X,idic(Y) constitution, and established the diagnosis of Turner syndrome. Case 2 was a 21-month-old 46,XY boy with genital ambiguity (penile hypospadias, right testis, and left streak gonad). FISH analysis of lymphocytes and buccal smear identified a 45,X/46,XY karyotype, leading to diagnosis of mixed gonadal dysgenesis. Case 3 was a 47,XYY 19-year-old boy with delayed neuromotor development, learning disabilities, psychological problems, tall stature, small testes, elevated gonadotropins, and azoospermia. FISH analysis of lymphocytes and buccal smear identified a 47,XYY/48,XXYY constitution. Cases 1 and 2 illustrate the phenotypic variability of the 45,X/46,XY mosaicism, and the importance of detection of the 45,X cell line for proper management and follow-up. In case 3, abnormal gonadal function could be explained by the 48,XXYY cell line. The use of FISH in clinical practice is particularly relevant when classical cytogenetic analysis yields normal or uncertain results in patients with features of sex chromosome aneuploidy. Arq Bras Endocrinol Metab. 2012;56(8):545-51

46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene

Deficiency of the enzyme P450 oxidoreductase is a rare form of congenital adrenal hyperplasia with characteristics of combined and partial impairments in steroidogenic enzyme activities, as P450 oxidoreductase transfers electrons to CYP21A2, CYP17A1, and CYP19A1. It results in disorders of sex development and skeletal malformations similar to Antley-Bixley syndrome. We report the case of a 9-year-old girl who was born with virilized genitalia (Prader stage V), absence of palpable gonads, 46,XX karyotype, and hypergonadotropic hypogonadism. During the first year of life, ovarian cyst, partial adrenal insufficiency, and osteoarticular changes, such as mild craniosynostosis, carpal and tarsal synostosis, and limited forearm pronosupination were observed. Her mother presented severe virilization during pregnancy. The molecular analysis of P450 oxidoreductase gene revealed compound heterozygosis for the nonsense p.Arg223*, and the novel missense p.Met408Lys, inherited from the father and the mother, respectively. Arq Bras Endocrinol Metab. 2012;56(8):578-85

Contribuição da tomografia computadorizada no diagnóstico e no estudo pós-operatório dos tumores selares

The computerized tomography (C.T.) of 18 pacients with sellar tumours were analysed. The C.T. made before surgery in 6 cases was positive in 3 and the type of tumour suggested by C.T. was confirmed in 3. Twelve pacients had a C.T. investigation after surgery and the examination suggest recurrent tumour in 5. Two of these were re-operated. One pacient with colesteatoma had the recurrent tumour verified by surgery and the other, with a pituitary adenoma during re-operation was noted only cicatricial tissue at sellar region.

Hemiparesia congênita avaliação neuropsicológica complementar utilizando computador

We present the neuropsychological assessment with computer aid of six cerebral palsy children. Three children had right hemiparesis and three, left hemiparesis. The tomographic examination showed parietal cavities (porencephalic cyst in 4 children, ischemic injury in 1 case and subarachnoid cyst in 1 case). We have proposed to assess the visuo-spatial function since we suspected the children could have disturbance of this function. We did not detect this disturbance. On the other hand, the children had astereognosia and the right hemiparetic children preferred to execute signs on the right part of the computer visor. We discuss and propose explanations for both findings.