Mario Roggini

Ureaplasma urealyticum and pulmonary outcome in a neonatal intensive care population.

OBJECTIVE To determine whether the presence of Ureaplasma urealyticum in the respiratory tracts of very low birth weight infants is associated with increased risk of pneumonia, radiographic evidence of severe bronchopulmonary dysplasia during the second or third week of life (precocious) and oxygen dependency at 36 weeks of corrected postnatal gestational age. METHODS From October, 1993, to January, 1996, all infants who met the following entry criteria were enrolled in the study: birth weights < or = 1500 g; admission to the NICU within 24 h after birth; evidence on admission of respiratory distress; and no prior antibiotic treatment. Infants were cultured for mycoplasmas, viruses, chlamydiae and aerobic and anaeroic bacteria. RESULTS Ninety-four critically ill newborns constituted our study cohort. Within 7 days of birth more infants with U. urealyticum infection showed radiographic features of pneumonia (53.1%, 25 of 47) than infants without U. urealyticum infection (21.2%, 10 of 47). Infants with U. urealyticum were more likely to have radiographic evidence of precocious bronchopulmonary dysplasia than those without this isolate (22.5%, 9 of 40 vs. 2.3%, 1 of 42). The relative risk of oxygen dependency at 36 weeks of corrected age in U. urealyticum-positive infants was 11.0 times that in U. urealyticum-negative infants (95% confidence interval, 1.6 to 75.5). Association of U. urealyticum and chronic lung disease at this age was not weakened after adjustments were made in a multivariate analysis for other significant risk factors including gestational age and presence of a patent ductus arteriosus. CONCLUSIONS Isolation of U. urealyticum from respiratory tracts is associated with radiographic changes compatible with pneumonia within 7 days of birth, precocious bronchopulmonary dysplasia and severe pulmonary outcome.

Type II benign osteopetrosis (Albers-Schönberg disease) caused by a novel mutation in CLCN7 presenting with unusual clinical manifestations.

AbstractA 16-year-old male patient with type II autosomal dominant benign osteopetrosis (ADO) was genotyped and found to harbor a novel mutation in exon 25 of the gene encoding for the osteoclast-specific chloride channel, CLCN7, inherited from the father, who was asymptomatic. The patient had normal biochemical findings and acid-base balance, except for increased serum levels of creatine kinase, lactic dehydrogenase, and the bone formation markers bone alkaline phosphatase isoenzyme, osteocalcin and N-terminal type I collagen telopeptide/creatinine ratio. Unusual generalized osteosclerosis was observed together with a canonical increase in vertebral and pelvis bone mass. An affected first grade cousin presented with normal biochemical findings and a milder osteosclerotic pattern of the pelvis. At the cellular level, cultured osteoclasts from the patient showed increased motility, with lamellipodia, membrane ruffling and motile pattern of podosome distribution, all of which could have contributed to functional impairment of bone resorption. The present report documents a novel mutation of the CLCN7 gene causing osteopetrosis in a radiologically uncertain form of the diseases, with apparent incomplete penetrance.

VACTERL association and maternal diabetes: A possible causal relationship?

BACKGROUND Some factors(s)/features(s) of maternal insulin-dependent diabetes mellitus are considered common human teratogens. Although the variable association of cardiac, renal, and skeletal anomalies are commonly observed in infants from diabetic mothers, the relationship between VACTERL (i.e., the association of vertebral and cardiac defects, tracheo-esophageal fistula, renal/radial malformations, and other limb anomalies) and maternal diabetes has not been sufficiently emphasized in the literature. CASE We report on a 3-year-old boy presenting with a constellation of blastogenetic malformations strongly suggestive of VACTERL association. His mother was affected by insulin-dependent diabetes since she was 7 years old and pregnancy history disclosed very high glucose and HbA1c levels, especially during the first 2 gestational months. CONCLUSIONS In an attempt to properly counsel the parents, we reviewed the literature and identified four additional patients with VACTERL and first trimester exposure to maternal diabetes mellitus. Although this evidence does not strongly support a causal relationship between these two conditions, additional arguments may substantiate this hypothesis. The pathogenesis of diabetic embryopathy in relation to the VACTERL phenotype is also discussed.

Incidence and predisposing factors for severe disease in previously healthy term infants experiencing their first episode of bronchiolitis.

Aim:  To determine the incidence and predisposing factors for severe bronchiolitis in previously healthy term infants <12 months of age experiencing their first episode of bronchiolitis.

Management of primary megaureter in infancy

The natural history of primary megaureter was evaluated in 26 infants (20 boys, 6 girls) with 38 nonrefluxing primary megaureters. Prenatal ultrasound diagnosis had been made in 21 infants. In all patients, primary megaureter was associated with pelvicaliceal dilatation. Two patients with urinary tract infection and two with agenesis of the contralateral kidney underwent surgical treatment. Asymptomatic infants with good differential renal function on DTPA scanning were managed conservatively regardless of their postfurosemide drainage curve. One of these infants later developed a slight deterioration in function and was submitted to surgery. One patient was lost to follow-up. Twenty patients, after a period ranging from 4 months to 8 years, showed partial or complete regression of ureteral dilatation with stable good renal function. In conclusion, many asymptomatic primary megaureters in infancy improve spontaneously and do not require surgical treatment.

Spectrum of skeletal abnormalities in a complex malformation syndrome with "cutis tricolor" (Ruggieri-Happle syndrome).

Background:  The term cutis tricolor describes the combination of congenital hyper‐ and hypopigmented skin lesions in close proximity to each other in a background of normal complexion. This phenomenon has been reported: (i) as a purely cutaneous trait; (ii) as a part of a complex malformation syndrome (Ruggieri‐Happle syndrome ‐ RHS); (iii) as a distinct type [cutis tricolor parvimaculata]; (iv) in association with other (e.g. vascular) skin disturbances.

Apparent Cure of a Newborn with Malignant Osteopetrosis Using Prednisone Therapy

A newborn girl with hemorrhagic purpura, suspected neonatal sepsis, and pale and dry skin was lethargic with remarkable hepatosplenomegaly, convergent strabismus, severe anemia, and elevated alkaline phosphatase activity. Radiographs showed a generalized increase in bone density, small medullary cavities, sclerosis of the skull and vertebrae, transverse wavy stripes of sclerotic bone in the metaphyses, and bone‐in‐bone appearance in phalanges of hands and feet. On this basis, she was diagnosed with malignant infantile osteopetrosis. On the first day of life, the infant was given a blood transfusion and vitamin K (1 mg intravenously [iv]). Corticosteroid therapy was started with prednisone (2 mg/kg per day). She showed marked improvement of symptoms. On the 26th day and 42nd day of life, she received additional blood transfusions. On the 49th day, the patient was discharged and corticosteroid therapy was continued at a regimen of 5 mg/day. Subsequent blood sample analyses revealed normal values for age. At 1 year of life, a bone marrow sample showed normal white and red cell lineages. X‐ray confirmed attenuation of the bone sclerosis; therefore, bone marrow transplantation (BMT) was not implemented. At the age of 1.5 years, prednisone therapy was discontinued gradually and withdrawn before the age of 2 years. Subsequent follow‐up showed normalization of all radiological and hematologic parameters. At present, the patient is 3 years old and appears healthy with apparently complete regression of the disease.

Chlamydia trachomatis in neonatal respiratory distress of very preterm babies: biphasic clinical picture

We observed 12 very preterm infants (10 males) with a peculiar respiratory syndrome characterized by early onset soon after birth and by a biphasic course. The severe first phase was characterized by a clinical pattern mimicking the idiopathic respiratory distress syndrome of prematurity. Gradually, respiratory symptoms decreased and assisted ventilation with oxygen therapy was reduced. In the second phase, a significant worsening of respiratory signs and the appearance of apneic spells were observed. Chest X‐ray showed hypoexpansion of the lungs and the prevalence of a fine reticular pattern. Chlamydia trachomatis was identified in this second phase in conjunctival and pharyngeal swabs and/or on tracheal aspirates. Our data suggest that in the very preterm infants, chlamydial infection shows different clinical and laboratory features if compared with Chlamydia trachomatis pneumonia of infants born at term.

Complex malformation (Ruggieri–Happle) phenotype with “cutis tricolor” in a 10-year-old girl

The term cutis tricolor describes the combination of congenital hyper- and hypo-pigmented skin lesions in close proximity to each other in a background of normal complexion. It is currently regarded as a twin-spotting phenomenon and today is clear that not all cases of cutis tricolor represent one single entity. This phenomenon has been reported so far: (a) as an isolated skin manifestation; (b) as a part of a complex malformation syndrome (Ruggieri-Happle syndrome - RHS); (c) as a distinct phenotype [cutis tricolor parvimaculata]; (d) in association with other (e.g., vascular) skin disturbances. We report a novel case of cutis tricolor in a 10-year-old girl who had dysmorphic facial features [alike those seen in cases with syndromic (RHS) cutis tricolor], overall overgrowth [weight, length, and head circumference were >90th percentile; there was increased bone age], mild cognitive delay (current IQ=55), behavioural disturbances, febrile seizures and (later) partial complex epilepsy (currently under good control), and skeletal defects [i.e., posterior scalloping of the lumbar vertebrae]. We discuss the main similarities and differences between the various phenotypes in the spectrum of cutis tricolor and with other conditions sharing features with the present case.

Pigmentary Mosaicism, Subcortical Band Heterotopia, and Brain Cystic Lesions

A 10-year-old boy presented with a severe and diffuse mosaic skin hypopigmentation running (in narrow bands) along the lines of Blaschko associated with mosaic areas of alopecia, facial dysmorphism with midface hypoplasia, bilateral punctate cataract, microretrognathia, short neck, pectus excavatum, joint hypermobility, mild muscular hypotonia, generalized seizures, and mild mental retardation. Cranial magnetic resonance imaging revealed hypoplastic corpus callosum (primarily posterior), subcortical band heterotopia, and diffuse subcortical, periventricular cystic-like lesions. Similar dysmorphic features were observed in the childs mother, but with no imaging abnormalities. The facial phenotype coupled with the cysts in the brain was strongly reminiscent of the oculocerebrorenal Lowe syndrome. Full chromosome studies in the parents and the proband and mutation analysis on peripheral blood lymphocytes (and on skin cultured fibroblasts from affected and unaffected skin areas in the child) in the genes for subcortical band heterotopia (DCX (Xq22.3-q23)], lissencephaly (PAFAH1B1, alias LIS1, at 17p13.3), and oculocerebrorenal syndrome of Lowe (OCRL at Xq23-q24)] were unrevealing. This constellation of multiple congenital anomalies including skin hypopigmentation and eye, musculoskeletal, and nervous system abnormalities was sufficiently characterized to be regarded as a novel example of pigmentary mosaicism of the Ito type (i.e., hypomelanosis of Ito).