Diagnosis of glycogenosis type II.

The diagnosis of glycogenosis type II is often complicated by the rarity of the condition and the heterogeneity of the clinical manifestations of the disease. It is a progressive, debilitating, and often fatal neuromuscular disorder that manifests as a continuum of clinical phenotypes, which vary with respect to organ involvement, age at onset, and severity. Early diagnosis requires both increased awareness among physicians regarding the clinical characteristics of the disease and fast and reliable acid alpha-glucosidase (GAA) enzyme activity assays to confirm the GAA deficiency. The clinical diagnosis of glycogenosis type II is confirmed by virtual absence (found in infants) and marked reduced activity (found in juveniles and adults) of GAA enzyme in blood samples, cultured fibroblasts, and muscle biopsies. This article specifically highlights the need for early recognition of the clinical manifestation of the disease in infants, juveniles, and adults. Descriptions of the main clinical features of the condition, as well as differential diagnosis are included. In addition, the tests required for a confirmed diagnosis are described, and use of muscle imaging to evaluate muscle pathology is reviewed.

Management and treatment of glycogenosis type II.

Glycogenosis type II is a multisystem disorder that requires management by a multidisciplinary team. The team should include several specialists, such as a metabolic disease specialist or biochemical geneticist, cardiologist, pulmonologist, neurologist, neuromuscular specialist, intensivist, orthopedist, respiratory therapist, physical therapist, occupational therapist, otolaryngologist speech therapist, audiologist, genetic counselor, and a metabolic dietician, who, as a team, will be capable of addressing the different manifestations of the condition. Aspects of functional assessment, rehabilitation, nutritional management, care coordination, nursing, genetic counseling, prenatal diagnosis, and screening are discussed in this article. In addition, treatment of glycogenosis type II is reviewed with attention to emerging therapeutic options.

[Pompe's disease: the role for early diagnosis and treatment]. / Malattia di Pompe: efficacia di una diagnosi precoce.

Pompe's disease (PD) is a glycogen storage disease characterized by the deposition of glycogen within body cells. This may lead to severe cardiac hypertrophy, with heart failure. The authors describe a female infant with PD, who developed severe cardiac hypertrophy, and was treated with recombinant human enzyme replacement therapy. This approach led to a progressive reduction of the heart hypertrophy, with improvement of the clinical condition.

Lack of effects of recombinant human growth hormone in a child with a complex cardiovascular malformation and dilated cardiomyopathy.

Recent studies have suggested the beneficial effects of GH treatment in patients with dilated cardiomyopathy. We have treated with recombinant human growth hormone (rhGH) a 6-year-old female with a complex congenital heart defect (severe tricuspid hypoplasia and malposition of the great arteries), who developed a progressive dilated cardiomyopathy of unknown etiology. rhGH treatment (0,1 U/kg/day, for 3 months) did not improve cardiac function, nor clinical symptoms, although we have no clear explanations for this. However, a trial with rhGH may be offered to children with dilated cardiomyopathy and waiting for heart transplantation.

[Importance of ultrasonographic monitoring in renal malformations]. / L'importanza del monitoraggio ecografico nelle malformazioni renali.

Routine ultrasound imaging in pregnancy reveals more abnormalities in the fetal urinary tract than any other system. The mild dilatation of the pelvi-caliceal system can be easily demonstrated approximately 80% of neonates with a prenatal diagnosis of uropathy shows neither symptom at birth. The follow-up study of four cases of mild fetal kidney abnormalities was taken to assess the postnatal morbidity of these children and to document the natural history of the ultrasound imaging.

[The surgical treatment of fixed aortic subvalvular stenosis]. / Trattamento chirurgico delle stenosi sottovalvolari aortiche fisse.

Over the past 5 years, 45 patients (11 adults and 33 children) have undergone operations for discrete and fixed subaortic stenosis. The resection of the subvalvular membrane or the fibromuscular collar was the procedure of choice. 28 patients underwent myectomy and/or myotomy. None patients died during operations. No significant symptoms and gradients remained after operation. We conclude that in the surgical management of fixed discrete subaortic stenosis myectomy and myotomy in addition to membranectomy produces better relief of the left ventricular outflow obstruction than do membranectomy alone.

[The clinical significance of fetal hydronephrosis of moderate extent]. / Significato clinico delle idronefrosi fetali di modesta entità.

Twelve fetuses with renal pelvis dilatation < 15 mm have been followed up until a year after birth. Dilatation cleared up in 59% of the cases within the last weeks of pregnancy and in 33% in the first months of life, while was asymptomatically detected in one case only a year after birth. A grade I and II vesico-ureteral reflux was diagnosed in two babies. Scheduled ultrasonographic examinations together with routine biochemical tests only are suggested by the kidney anatomical-functional normal parameters. Possible recurrent infections may be prevented through urine culture. Voiding cystourethrography is performed only when a recurrent infection is present because a reflux may be detected. Lacking a definite prognostic parameter, pre- and postnatal ultrasonographic follow-up is necessary although the little renal pelvis dilatation is to be considered negligible.

An aerosol generator system for inhalation delivery of pharmacologic agents.

Most commercially available aerosol generators widely used in medical applications produce aerosols characterized by a large mass median diameter in the 4-8 micron range and the particle size in the 0.1-10.0 microns range. The desirable size of therapeutic and diagnostic aerosols, however, is about 2-4 microns mass median diameter, and less than 2.0 geometric standard deviation; this size increases the reproducibility of inhalation tests and enhances drug efficacy. We combined the commercially available DeVilbiss Model 65 nebulizer with a dilution/mixing chamber developed in our laboratory. The characteristics of this aerosol generator system were examined over a range of operating conditions and concentrations of solutions of three bronchoconstrictive agents--histamine, carbachol, and methacholine. The aerosol generator system produced a polydispersed aerosol with a mass median diameter range of 1.7-2.4 microns and geometric standard deviation of 1.5. The reliable and reproducible operation of the aerosol generator system greatly increases the power of bronchial challenge tests with bronchoconstrictive drugs.

[Prognosis for newborns of very low birthweight (author's transl)]. / Destino dei neonati di peso molto basso alla nascita.

During the 5 years, 1975-1979, 144 infants weighing less than or equal to 1500 g (ranging from 400 to 1500 g) were admitted to the Neonatal Intensive Care Unit of Mantua. 57 (40%) survived the neonatal period. The principal cause of death was hypoxia and hyaline membrane disease. After leaving the hospital, all the children were seen regularly to 1 year of age and 47 (82%) to 5 years of age. The infants received a neurological and physical evaluation at variable intervals; severe neurological handicaps were found in 2 (3,5%) infants, mild handicaps were observed in 6 (10,5%) infants. Pathological EEG was found in 1 (1,7%) case. The DQ was evaluated by the Gesell test; the DQ was below 80 in 1 child, between 80 and 89 in 2 infants and above 89 in the remaining cases. Three children had strabismus, none had retrolental fibroplasia. Follow-up audiometry was normal in all the subjects. The Authors conclude that intensive care increases the survival and reduces the incidence of serious handicaps in the newborns of very low birthweight.