Aortic atresia with aortopulmonary window and interruption of the aortic arch

Summary The cross-sectional echocardiographic and postmortem appearances of the heat from a patient with the rare association of aortic valve atresia, aortopulmonary window, and interrupted aortic arch are described. Differentiation of this anomaly from truncus arteriosus with interrupted aortic arch is important.     

Aortic atresia with interruption of the aortic arch and an aortopulmonary fistulous tract: Case report

We present a case of interruption of the aortic arch (IAA) in association with aortic atresia. A pulmonary artery to ascending aorta fistulous channel at the level of the sinuses of Valsalva of the pulmonary artery was present and supplied the ascending aorta and coronary arteries. The communication had a significant length, so embryologically it is not an aortopulmonary window. There have been only three reported cases in the literature of IAA with aortic atresia; in none was a pulmonary artery to ascending aorta fistulous tract present.     

Zinc deficiency acts as a co-teratogen with alcohol in fetal alcohol syndrome

Because alcoholism has adverse effects on zinc nutrition and many pregnant women consume less than the recommended dietary allowances of zinc, we postulated that zinc deficiency acts as a co-teratogen with alcohol in the fetal alcohol syndrome. We compared the effects of alcohol on progeny of pregnant mice fed a zinc-deficient diet compared to those fed a diet with adequate zinc. Pregnant CBA mice (n = 66) were fed the Lieber-DeCarli liquid diet with 0, 15, or 20% ethanol-derived calories containing 0.3 (low) or 8.5 (high) micrograms zinc/ml. Dams were sacrificed on day 18 of gestation. Resorptions, malformations, and individual fetal weights were recorded. Analysis of fetuses included assays for zinc, assessment of soft tissue malformations, and alizarin red staining for skeletal malformations. Fetal weights were lower in the groups fed the zinc-deficient diet for each concentration of alcohol (p less than 0.005). The groups fed the combination of low zinc plus alcohol had 37-52% resorptions, while the animals on the zinc-deficient diet without alcohol or the high zinc diet with alcohol had 0-2% resorptions. Skeletal malformations were related to alcohol concentration but not zinc intake, while external malformations were higher in those maintained on the low zinc-ethanol diet. These results suggest that zinc deficiency potentiated the teratogenic effects of alcohol and that nutritional intervention for alcoholic women during pregnancy might reduce the incidence or severity of fetal alcohol syndrome.     

Successful treatment with an unrelated-donor bone marrow transplant in an HLA-deficient patient with severe combined immune deficiency ("bare lymphocyte syndrome")

An 8-month-old white female infant with Pneumocystis carinii pneumonia had a normal blastogenic response to mitogens but no response to a variety of antigens, as well as a poor response to allogeneic cells in one-way mixed lymphocyte culture assays. The patient's mononuclear cells had defective class I (HLA-A, -B, -C) and absent class II (HLA-D) antigen expression on their surface, thus establishing the diagnosis of HLA-deficient severe combined immune deficiency (bare lymphocyte syndrome). Family HLA typing, in vitro stimulation of patient mononuclear cells, and sequence-specific oligonucleotide probe hybridization allowed the patients HLA phenotype to be determined. An unrelated bone marrow donor whose phenotype matched at all but a single A locus was found. The patient was conditioned with busulfan and cyclophosphamide, followed by infusion of T-cell-depleted bone marrow cells. The patient has been infection free with a successful marrow graft documented by HLA typing and chromosomal analysis. Sequence-specific oligonucleotide probe hybridization allows determination of the HLA phenotype in patients with HLA-deficient severe combined immune deficiency which, in turn, makes marrow transplantation an option for the reconstitution of these patients' immune system.     

Persistence of hypoplastic and recoarcted fifth aortic arch associated with type A aortic arch interruption: Surgical and balloon angioplasty results in an infant

Summary A rare aortic malformation, the persistence of the fifth aortic arch (PFAA) associated with coarctation of the aorta, is reported in a 3-month-old male infant who underwent an emergency surgical intervention at 10 days of life, to relieve a severe aortic coarctation by pericardial patch technique.A successful balloon angioplasty was performed 2 months later eliminating a recoarctation. The gradient fell from 77 mmHg to 0, but a definitive surgical intervention for recoarctation was necessary 14 months after angioplasty.     

Female pseudohermaphroditism with phallic urethra in the offspring of a mother with an adrenal tumor

BACKGROUND: Female pseudohermaphroditism is a disorder in which 46,XX females with ovaries do not develop as normal women. This disorder is caused by overexposure of a female fetus to androgens during intrauterine life. We describe a masculinized female infant who was born to a mother who had virilizing signs. PATIENT REPORT: The patient had a normally formed phallus and a completely fused scrotum. Baseline as well as stimulated adrenal hormones and testosterone values were in the normal range in the infant. No androgens were given to the mother during pregnancy. Serum 17-OHP, DHEA-S, and testosterone levels were all elevated in the mother. Imaging studies revealed a tumor mass over the left kidney pole. Histologically it was an adrenal tumor. CONCLUSIONS: Although a maternal adrenal tumor is a rare cause of female pseudohermaphroditism, the physician must bear this in mind when confronted with a newborn or infant with 46,XX karyotype and cryptorchidism with a phallic urethra.     

Hyperuricemia in an infant with Taussig-Bing anomaly and interruption of the aortic arch

Summary Hyperuricemia is commonly recognized in adolescents and adults with cyanotic congenital heart disease. We report a case of a male infant with hyperuricemia, Taussig-Bing anomaly, and interruption of the aortic arch. The patient underwent correction of interrupted aortic arch and pulmonary arterial banding at the age of 7 days. Hyperuricemia appeared when he was 2 months old (max 17.7 mg/dl) and persisted until he underwent a Jatene operation at the age of 10 months. The hyperuricemia improved gradually after the disappearance of hypoxia and polycythemia. The laboratory findings suggest that hyperuricemia can result from uric acid overproduction due to secondary polycythemia, impairment of uric acid excretion by the kidney, or the acceleration of anaerobic metabolism. Allopurinol and benzbromarone together were partially effective treatments for hyperuricemia in this patient with cyanotic congenital heart disease.     

Transient proteinuria in an infant born to a mother with HELLP syndrome

The syndrome of haemolysis, elevated liver enzymes and low platelet count (HELLP syndrome) is a severe form of pre-eclampsia and eclampsia associated with poor maternal and neonatal outcome. We report here the case of an infant born to a mother with HELLP syndrome. The infant was initially diagnosed as having nephrotic syndrome but after a follow-up period of 25 days proteinuria and oedema had disappeared. CONCLUSION: to our knowledge, transient proteinuria with maternal HELLP syndrome has not been previously described in the literature.     

Management of severe feeding dysfunction in children with fetal alcohol syndrome

In the past three years, we have seen three children who required prolonged inpatient admissions for severe feeding dysfunction resulting in nutritional and growth problems. The pregnancies were significant for severe maternal alcohol abuse during the entire pregnancy. All of the subjects had multiple physical findings and dysmorphic features seen in children with mild to severe fetal alcohol syndrome. Feeding evaluations showed significant delays in oral motor development. Specific oral motor dysfunction was not a commonality and did not appear to be a major determinant in delays in feeding development. Continued assessment revealed that the babies had limited suck patterns and were consistently noted to tire easily. Each required feeding by either gastrostomy and/or nasogastric feeding for prolonged periods of time. They started initial feeding by mouth at about 8 to 10 months. The times for complete oral feeding were 14, 17 and 18 months.     

Occurrence of an aortic arch anomaly in two siblings born to a diabetic mother

A patient with interruption of aortic arch type A, born to a diabetic mother, is described. The patient, a male infant, was the fourth child of a 29-year-old mother, and had a sibling with coarctation of the aorta. The mother had been treated for insulin-dependent diabetes mellitus for the previous 10 years. The infant died on the 3rd day of life after symptoms of cardiogenic shock. To our knowledge, interruption of aortic arch type A has not been previously described in infants of diabetic mothers. The relevance of the case is discussed and the literature reviewed.     

Familial 22q11.2 deletion: an infant with interrupted aortic arch and DiGeorge syndrome delivered from by a mother with tetralogy of Fallot

When a mother with tetralogy of Fallot has a conotruncal anomaly face, her child might have a 22q11.2 deletion and severe congenital heart disease.     

Features of Antley-Bixler syndrome in an infant born to a mother with pregnancy luteoma

We report a female newborn with characteristic signs of Antley-Bixler syndrome (ABS) such as midface hypoplasia, radiohumeral synostosis and multiple joint contractures. The newborn also presented ambiguous genitalia, stage Prader V, and congenital adrenal hyperplasia. The mother experienced midterm virilization due to a pregnancy luteoma. Her elevated androgen levels and virilization symptoms normalized post partum without treatment. The newborn had elevated serum testosterone and 17-OH-progesterone levels which remained elevated because of a 21-hydroxylase deficiency. The child's treatment in order of priority was: hydrocortisone substitution, craniofacial/skeletal anomaly management and surgical correction of the external genitalia. Mutations in the genes for fibroblast growth factor (FGF) 8 and receptors FGFR1, FGFR2, and FGFR3 were not detected. Conclusion A newborn girl with manifestations of the Antley-Bixler syndrome showed severe virilization probably caused by the association of a mild 21-hydroxylase deficiency and maternal hyperandrogenism due to a pregnancy luteoma. Abnormalities of androgen metabolism may be responsible for virilization reported in other cases of the Antley-Bixler syndrome. Received: 14 May 1999 / Accepted: 3 August 1999     

主肺动脉窗合并右肺动脉起源于主动脉和主动脉弓离断患儿诊治分析

目的探讨主肺动脉窗(APW)合并右肺动脉起源于主动脉(AORPA)及主动脉弓离断(IAA)患儿的诊断与治疗。方法回顾性分析1例APW合并AORPA及IAA患儿的临床资料。结果患儿,女,4个月,外院诊断为室间隔缺损,保守治疗无效,无法撤离呼吸机,入院后超声心动图提示为APW、AORPA、动脉导管未闭、重度肺动脉高压;外科手术后患儿出现少尿,上、下肢动脉压差大,经CT检查提示合并IAA,再次外科手术矫治;术后患儿顺利恢复并出院,随访28个月,生长发育与同龄儿无明显差别。结论 APW合并AORPA及IAA患儿一经诊断需尽早手术治疗,一期外科纠治效果满意,术前应完善心血管造影等检查防止漏诊。