Use of the trans-abdominal rectus abdominis flap in sacrum surgery

The authors describe the method used to reconstruct the posterior wall of the pelvis using a flap taken from the rectus abdominis muscle after resection of the sacrum to treat neoplasm.     

Cutis tricolor: congenital hyper- and hypopigmented lesions in a background of normal skin with and without associated systemic features: further expansion of the phenotype

The term cutis tricolor describes the uncommon co-existence of congenital hyper- and hypopigmented macules, in close proximity to each other, in a background of normal skin so far seen in a 17-year-old patient with various other congenital defects. The suggested explanation for this phenomenon is allelic twin spotting. We report on two boys, aged 6 and 11 years, with an unusual combination of three different degrees of pigmentation, one of whom had in addition, psychomotor delay, dysmorphic features, musculoskeletal abnormalities and subcortical and periventricular white matter high signal lesions on brain neuroimaging. In both cases a search for mosaicism in peripheral blood lymphocytes and cultured fibroblasts was negative. In contrast to the previously reported case, the two children had large streaks or patches of hyper- and hypopigmented skin lesions, in close proximity to each other, involving large areas of the body. The rest of the skin had a normal intermediate pigmentation. Conclusion This combination of three degrees of pigmentation in association with systemic defects in one child and the lack of such association in the other confirms and further expands the clinical phenotype of cutis tricolor. Received: 9 December 1999 and in revised form: 10 April 2000 / Accepted: 11 April 2000     

Multiple coronary artery aneurysms in a child with neurofibromatosis type 1

A number of frequently unrecognised vascular manifestations have been described in patients with neurofibromatosis type 1 (NF1), including involvement of the great vessels, cerebral, visceral and renal arteries. Rarely, changes in the coronary arteries have been reported in adults with NF1. We report on a 16-year-old boy affected by NF1 with dysmorphic features and three aneurysms in the mid-portion of the left descending coronary artery disclosed by chance during investigation for a malignant peripheral nerve sheath tumour. Molecular analysis detected a gross de novo deletion in the NF1 gene. The boy had had no previous cardiac symptoms but died suddenly after developing signs and symptoms suggestive of myocardial infarction. Conclusion To the best of our knowledge, this represents the first report of multiple lesions in the coronary arteries in a child affected by neurofibromatosis type 1 with a known deletion of the neurofibromatosis type 1 gene. Received: 11 November 1999 and in revised form: 9 January 2000 / Accepted: 9 January 2000     

Aneurysmal bone cyst of the sacrum

A series of five cases of sacral aneurysmal bone cyst is presented. There were three females and two males, the youngest patient being 11 years old, the oldest 41 years old. All patients had pain of long duration with varying signs of nerve root compression. Three patients had micturitional problems. Four patients had a palpable mass which was tender. All had standard radiographs. Tomograms, computed tomography (CT) scans or MRI (magnetic resonance imaging) were obtained in some patients. In all patients a definite histologic diagnosis was established. Four lesions healed after resection (two cases) or curettage (two cases). One patient is considered to have a stable lesion which is not progressing.Supported in part by Speical Project Oncology, National Council for Research grant n^o 87.02810.44     

Benign paroxysmal positional vertigo and post-treatment quality of life

Benign paroxysmal positional vertigo is probably the most common cause of vertigo. It is characterized by acute short-lived episodes of severe vertigo in association with change in the position of the head. This condition is benign, and after the repositioning procedure, the cure rate is between 70 to 80%. Numerous studies describe the association between vertigo and social handicap and emotional disturbance. In our study, we report for the first time the level of anxiety and social consequences, tested with the Hamilton anxiety scale and vertigo handicap questionnaire, in a group of patients who had suffered only from positional vertigo and were clinically cured when the questionnaires and test were administered. The important role played by psychological factors in maintaining or increasing the social consequences and perception of vertigo is revealed in this study.     

Callosal anomalies with interhemispheric cyst: expanding the phenotype

AIM: To determine the frequency and clinical features of corpus callosum hypoagenesis, dysgenesis or hypoplasia in conjunction with extraparenchymal interhemispheric cyst. METHODS: A retrospective study of clinical files and imaging records of all 2500 children referred to the University Department of Paediatrics, Catania, Italy, who underwent neuroimaging by ultrasound, computerized tomography or magnetic resonance imaging in 1992-2003. Five children (all girls, aged 2-18 y) were found to have abnormalities of the corpus callosum associated with interhemispheric cyst. RESULTS: Three cases were type 2b, one type 2c and one mixed type 2b and 2c according to the classification proposed by Barkovich et al. The onset of clinical symptoms was very early, with severe neurological involvement, seizures that were difficult to treat and profound psychomotor retardation. CONCLUSIONS: In callosal anomalies with cysts, a prevalence in females is not confined to type 2b cysts, the spectrum of abnormalities of the corpus callosum is more varied than previously recorded, and the natural history and outcome of the condition are poor with profound developmental delay and drug-resistant seizures. The finding that all the cases were of type 2 suggests that the overall phenotype is more widespread than previously thought and may present in association with other complex syndromes.     

LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect

OBJECTIVE: To determine if laminin-alpha2 deficiency is due to mutations in the LAMA2 gene or secondary to mutations in other congenital muscular dystrophy genes. METHODS: We performed molecular analysis of LAMA2, by single-strand conformation polymorphism and sequencing, in 15 patients with undetectable or greatly reduced laminin-alpha2 expression. We also performed 4 prenatal diagnoses and investigated a founder effect. RESULTS: We found 1 known and 9 previously undescribed LAMA2 mutations spanning all protein domains. These were nonsense or frameshifts causing laminin-alpha2 absence or, in 1 case, a homozygous missense mutation producing partial protein expression and milder phenotype. LAMA2 mutations were undetected in 5 patients, in 2 of whom FKRP mutations explained the phenotype. In 3 prenatal cases, the fetus was heterozygous for the mutation of interest and pregnancy continued; in 1 case, the fetus was affected and aborted. In 2 patients, the Cys967Stop mutation and identical haplotypes flanking the LAMA2 gene indicated a founder effect. CONCLUSIONS: The clinical phenotype was severe in most patients with LAMA2 mutations and associated with undetectable protein expression. One case with no protein and another with partial expression had milder phenotypes. Typical white matter alterations on magnetic resonance imaging were found in all patients with LAMA2 mutations, supporting the utility of magnetic resonance imaging in differential diagnosis. The founder mutation (Cys967Stop) probably originated in Albania. Genetic characterization of affected families is mainly of use for prenatal diagnosis.