Abstract Inborn errors of metabolism are rare disorders with few therapeutic options for their treatments, which can make patients suffer with complications. Therefore, compounded drugs might be a promising option given that they have the ability of meeting the patient’s specific needs, (i) identification of the main drugs described in the literature; (ii) proposal of compounding systems and (iii) calculation of the budgetary addition for the inclusion of these drugs into the Brazilian Unified Health System. The research conducted a literature review and used management data as well as data obtained from official Federal District government websites. The study identified 31 drugs for the treatment of inborn errors of metabolism. Fifty eight percent (58%) (18) of the medicines had their current demand identified, which are currently unmet by the local Health System. The estimated budget for the production of compounded drugs was of R$363,16.98 per year for approximately 300 patients. This estimated cost represents a budgetary addition of only 0.17% from the total of expenditures planned for drug acquirement. There is a therapeutic gap for inborn errors of metabolism and compounding pharmacies show potential in ensuring access to medicine therapy with a low-cost investment.

Resumo Objetivo: Relatar caso de neonato com episódios de apneias recorrentes, diagnosticado com síndrome de hipoventilação central congênita (SHCC) associada à doença de Hirschsprung (DH), o que configurou síndrome de Haddad. Descrição do caso: Terceiro filho de casal não consanguíneo, nascido a termo, parto normal sem intercorrências, peso e comprimento adequados para idade gestacional. Logo após o nascimento apresentou bradipneia, bradicardia e cianose, foi submetido à intubação orotraqueal e iniciada antibioticoterapia empírica devido à suspeita de sepse neonatal precoce. Durante internação em UTI neonatal evoluiu com dificuldade de extubação devido a episódios de dessaturação durante sono e vigília. Apresentou quadros recorrentes de hipoglicemia, hiperglicemia, acidose metabólica, distensão abdominal, leucocitose, aumento de proteína C reativa, com hemoculturas negativas e suspeita de erro inato do metabolismo. Aos dois meses foi diagnosticada doença de Hirschsprung de segmento longo, foi submetido à ressecção do segmento e colostomia à Hartmann. Feita pesquisa genética por reação em cadeia da polimerase para pesquisa de SHCC, que evidenciou alelo mutado do gene PHOX2B e confirmou o diagnóstico. Comentários: Trata-se de doença genética rara, de herança autossômica dominante, causada por mutação no gene PHOX2B, localizado na banda cromossômica 4p12, que resulta em disfunção do sistema nervoso autônomo. A SHCC também pode cursar com doença de Hirschsprung e tumores derivados da crista neural. Há correlação entre fenótipo e genótipo, além de grande variabilidade fenotípica intrafamiliar. No período neonatal pode simular quadros de sepse e erros inatos do metabolismo.

Abstract Objective: To report the case of a newborn with recurrent episodes of apnea, diagnosed with Congenital Central hypoventilation syndrome (CCHS) associated with Hirschsprung's disease (HD), configuring Haddad syndrome. Case description: Third child born at full-term to a non-consanguineous couple through normal delivery without complications, with appropriate weight and length for gestational age. Soon after birth he started to show bradypnea, bradycardia and cyanosis, being submitted to tracheal intubation and started empiric antibiotic therapy for suspected early neonatal sepsis. During hospitalization in the NICU, he showed difficulty to undergo extubation due to episodes of desaturation during sleep and wakefulness. He had recurrent episodes of hypoglycemia, hyperglycemia, metabolic acidosis, abdominal distension, leukocytosis, increase in C-reactive protein levels, with negative blood cultures and suspected inborn error of metabolism. At 2 months of age he was diagnosed with long-segment Hirschsprung's disease and was submitted to segment resection and colostomy through Hartmann's procedure. A genetic research was performed by polymerase chain reaction for CCHS screening, which showed the mutated allele of PHOX2B gene, confirming the diagnosis. Comments: This is a rare genetic, autosomal dominant disease, caused by mutation in PHOX2B gene, located in chromosome band 4p12, which results in autonomic nervous system dysfunction. CCHS can also occur with Hirschsprung's disease and tumors derived from the neural crest. There is a correlation between phenotype and genotype, as well as high intrafamilial phenotypic variability. In the neonatal period it can simulate cases of sepsis and inborn errors of metabolism.

OBJETIVO: Comparar a acurácia diagnóstica da histerossonografia (HSN) com a da ultrassonografia transvaginal convencional (USG) na avaliação da cavidade uterina de mulheres inférteis candidatas às técnicas de reprodução assistida (TRA). MÉTODOS: Realizou-se estudo transversal comparativo com 120 mulheres inférteis candidatas à TRA, acompanhadas no Centro de Reprodução Assistida (CRA) do Hospital Regional da Asa Sul (HRAS), Brasília - DF, no período compreendido entre agosto de 2009 e novembro de 2010. A HSN foi realizada com infusão de soro fisiológico em sistema fechado. Comparou-se o achado da HSN com o resultado da USG prévia. A cavidade uterina foi considerada anormal quando se visualizava: endométrio com espessura superior à esperada para a fase do ciclo; pólipo endometrial; mioma submucoso e alteração do formato da cavidade do útero. A análise estatística foi feita utilizando-se frequências absolutas, valores percentuais e o teste χ² com nível de significância de 5%. RESULTADOS: Observamos que 92 (76,7%) mulheres inférteis, candidatas à TRA, apresentavam cavidade uterina normal pela HSN e em 28 (23,3%) foram detectadas as seguintes alterações: 15 pólipos (12,5%), nove alterações no formato da cavidade uterina (7,5%), 6 miomas submucosos (5%), 4 espessura endometrial anormal (3,3%) para a fase do ciclo menstrual e 2 septos uterinos (1,7%); 5 mulheres apresentavam mais de uma alteração (4,2%). Enquanto a USG observou alterações da cavidade uterina apenas em 5 (4,2%) mulheres, a HSN confirmou 4 das 5 alterações detectadas pela USG e detectou alterações na cavidade uterina em outras 24 mulheres que não tinham sido detectadas na USG, ou seja, a HSN foi capaz de detectar mais alterações na cavidade uterina do que a USG, com diferença significativa (p=0,002). CONCLUSÃO: A HSN tem maior acurácia que a USG na avaliação da cavidade uterina, neste grupo de mulheres inférteis candidatas às TRA. A HSN poderá ser facilmente incorporada à propedêutica das candidatas às TRA e contribuir para reduzir as falhas de implantação embrionária.

PURPOSE: To compare the diagnostic accuracy of sonohysterography (HSN) and conventional transvaginal ultrasound (USG) in assessing the uterine cavity of infertile women candidate to assisted reproduction techniques (ART). METHODS: Comparative cross-sectional study with 120 infertile women candidate to ART, assisted at Centro de Reprodução Assistida (CRA) of Hospital Regional da Asa Sul (HRAS), Brasília - DF, from August 2009 to November 2010. Sonohysterography was performed with saline solution infusion in a close system. The sonohysterography finding was compared to previous USG results. The uterine cavity was considered abnormal when the endometrium was found to be thicker than expected during the menstrual cycle and when an endometrial polyp, a submucous myoma and an abnormal shape of the uterine cavity were observed. The statistical analysis was done using absolute frequencies, percentage values and the χ², with the level of significance set at 5%. RESULTS: HSN revealed that 92 (76.7%) infertile women candidate to ART had a normal uterine cavity, while 28 (23.3%) had the following abnormalities: 15 polyps (12.5%), 9 cases of abnormal shape of the uterine cavity (7.5%), 6 submucous myomas (5%), 4 cases of inadequate endometrial thickness for the menstrual cycle phase (3.3%), and 2 cases of uterine septum (1.7%); 5 women presented more than one abnormality (4.2%). While USG showed alteration in the cavity only in 5 (4.2%) women, the sonohysterography confirmed 4 out of the 5 abnormalities shown by USG and detected an abnormal uterine cavity in 24 other women, who had not been detected by USG. This means that sonohysterography was able to detect more abnormalities in the uterine cavity than USG, with a statistically significant difference (p=0.002). CONCLUSION: The sonohysterography was more accurate than USG in the assessment of the uterine cavity of this cohort of infertile women candidate to ART. The sonohysterography can be easily incorporated into the investigation of these women and contribute to reducing embryo implantation failures.