Fontaine-Farriaux craniosynostosis: second report in the literature.

Craniosynostosis is determined by the precocious fusion of one or more calvarial sutures leading to an abnormal skull shape. Additionally, nodular heterotopia is a disorder of neuronal migration and/or proliferation. We describe a very rare multiple congenital anomalies (MCA) syndrome in which craniosynostosis is associated with bilateral periventricular nodular heterotopia (BPNH) of the gray matter and other malformations involving hands, feet, and the gut. Clinical findings and further investigations suggest the diagnosis of craniosynostosis Fontaine-Farriaux type. To the best of our knowledge, this case is only the second report of this MCA syndrome. Based on the clinical and radiological data of the two cases reported, we hypothesize that this malformative complex may be considered a new BPNH/MCA syndrome and propose to classify it as BPNH/craniosynostosis. Previous studies demonstrated that at least two BPNH/MCA syndromes have been mapped to the Xq28 chromosomal region in which a causative gene for isolated BPNH is located. The same authors hypothesized that other BPNH syndromes could be due to microrearrangements at the same Xq28 region. Our case presents several overlapping features with some BPNH/MCA syndromes and it is possible that this new complex disorder may be caused by rearrangements at the same chromosomal region that could alter expression of different genes in Xq28.

Four year follow-up of a case of fucosidosis treated with unrelated donor bone marrow transplantation.

Fucosidosis is a rare autosomal recessive lysosomal disorder caused by alpha-fucosidase deficiency. We report a child with fucosidosis, second daughter of non-consanguineous parents, for whom biochemical diagnosis followed clinical evidence of the disease in her older sister. Based on previous experiences, the indication to transplant was considered. Since she lacked a matched sibling, an unrelated marrow donor was found. At pre-hematopoietic stem cell transplantation evaluation, first signs of neurological involvement were clinically detectable. MRI showed diffuse hypomyelination and auditory brainstem responses and somatic-sensorial evoked potentials were altered. Visual evoked potentials were normal, tortuosity in the retinal veins and peripapillary hemorrhages were detected. Bone marrow transplantation conditioning was with a regimen of busulphan, thiotepa and cyclophosphamide; in vivo Campath 1G, cyclosporin A and short course methotrexate were given to prevent graft-versus-host disease. The patient engrafted rapidly and her post-transplant course was complicated by moderate graft-versus-host disease, transient episodes of idiopathic thrombocytopenic purpura, repeated septic complications and recurrent episodes of Sweet's syndrome. Sequential short tandem repeat polymorphisms on peripheral blood and bone marrow cells documented the persistence of donor engraftment. Follow-up showed a progressive rise of enzymatic levels. Psychomotor development improved, as confirmed by evaluation of evoked potentials and by MRI scanning.

Is chemotherapy effective therapy for intracranial immature teratoma? A case report.

BACKGROUND: Intracranial immature teratomas (IT) are very rare germ cell tumors (GCT). The value of chemotherapy in their treatment has not been defined. METHODS: A child was referred to our hospital for consultation regarding the need for adjuvant treatment after being operated upon twice (at the age of 7 months and 11 months) for a large supratentorial intracerebral mass. The patient was staged and the tumor specimens reviewed. Histology was that of an IT with no other type of malignant GCT. RESULTS: Considering the age, lack of any sign of residual tumor by computed tomography and magnetic resonance imaging, absence of tumor cells in the spinal fluid or elevation of tumor markers, and based on the reported poor response of such tumors to chemotherapy, a policy of "wait and see" was adopted. One month later, the child presented with a rapidly growing intracranial mass invading the cranial bones on the left side. Chemotherapy consisting of 4 cycles of carboplatin, etoposide, and bleomycin followed by another 4 cycles of ifosfamide, vincristine, and dactinomycin alternating with carboplatin and etoposide, achieved complete remission, and 24 months after discontinuation of treatment, the patient continued free of disease. CONCLUSIONS: This report indicates that chemotherapy may be effective therapy for intracranial IT. In our patient, chemotherapy modified the natural aggressive behavior of this disease and achieved a persistent, complete remission. Given the minimal information available in the literature concerning the response of IT to chemotherapy, this case addresses the issue of whether chemotherapy alone is adequate to treat intracranial germ cell tumors.

[Axial computed tomography in anorectal malformations: a pre- and postoperative indication?]. / Tomografia axial computerizada en las malformaciones anorectales: una indicacion pre y postoperatoria?

Ten patients with anorectal malformations were studied by preoperative CT: well developed sphincteric muscular structures (puborectal sling of levator ani, muscular striated complex and external sphincter) were present in six patients. In three patients muscular structures were poorly developed (case 2a with rectovaginal fistula, case 5a with rectocloacal fistula and case 7a with prostatic fistula). In one case with bladder fistula, the sphincteric musculature was not identified at all. Eleven patients were postoperative studied by pelvic CT: Two of 11 cases had a good sphincteric control. The other nine patients were incontinent. In three of the nine incontinent patients, the colon was appropriately place, but puborectal muscle and sphincteric complex were hypoplastic. In the other six cases CT showed a pulled through colon out of the sphincteric structures. Four of them presented major bony sacral abnormalities and/or lesion of the sphincteric muscle structures. The remaining two patients with an evident pulled-through colon out of a normally developed sphincteric region and without sacral anomalies, were selected for a secondary PSARP procedure. In one of these two patients the operation brought about a complete resolution of the fecal incontinence. The pelvic CT is a useful examination in the anorectal malformation for the preoperative prognostic evaluation of continence, while postoperative CT is essential in selecting those incontinent patients who need a secondary PSARP for the treatment of fecal incontinence.

[Importance of computerized tomography in the early diagnosis of Bourneville's tuberous sclerosis]. / Importanza della tomografia computerizzata nella diagnosi precoce della sclerosi tuberosa di Bourneville.

CT findings in a series of 23 cases of tuberous sclerosis are presented. The great importance of CT screening for the early diagnosis of this disease and the opportunity of CT follow-up of subependymal nodules, for their high malignant potential are underlined.

[Computed tomography and anorectal malformations. Their preoperative evaluation]. / Tomografia computerizzata e malformazioni anorettali. Valutazione preoperatoria.

The anatomical patterns of anorectal malformations have so far been studied according to the principles which inspire Peña's technique for the surgical treatment of anorectal anomalies. Thus, the diagnostic study of anorectal malformations has by the authors been considered a work of classification, but of identification. Among the diagnostic procedures in use in our Institute, preoperative CT of pelvis is performed to assess the presence and to define the development of muscular sphincteric structures towards prognostic evaluation of continence, the major long-term goal. Seven patients, aged 1-30 months, with anorectal anomalies were studied with preoperative CT of the pelvis. CT scans showed well-developed sphincteric muscles in 3 patients (2 with rectoureteral and 1 with rectovestibular fistulas), poorly developed muscular structures in 3 patients (with rectovaginal, cloacal and prostatic fistulas), absence of muscular structures in 1 case (with rectovesical fistula). CT findings were always confirmed at surgery, except for the case with rectovesical malformation where CT scans did not allow to identify the thin sphincteric musculature. The authors believe preoperative CT of the pelvis, together with other clinical and radiological examinations, to be a valid mean in the prognostic evaluation of continence.

[Computed tomography and anorectal malformations. Their postoperative evaluation]. / Tomografia computerizzata e malformazioni anorettali. Valutazione postoperatoria.

In spite of great progress in surgical treatment of anorectal malformations, fecal incontinence is still, in variable degrees, a frequent and unpleasant postsurgical sequela. The most frequent causes of incontinence are: i) the incorrect placement of the pulled-through colon in the levator ani and sphincteric muscular complex during abdominoperineal surgical procedures; ii) the poor development of sphincteric musculature; iii) the associated sacral anomalies. Postoperative CT helps to evaluate all the above-mentioned conditions, in view of possible new surgical procedure for improving continence (besides postoperative CT can help in choosing the more suitable surgical technique). Nine patients, aged 3 to 13 years, (2 with good continence and 7 with various degrees of incontinence), were studied with pelvic postoperative CT. In the cases (2) with good continence the CT picture was: good development of sphincteric musculature and neo-anorectum correctly placed into sphincteric musculature; in the cases (3) with low degree of continence: neoanorectum correctly placed, but hypoplastic puborectal muscle; in the cases (4) with complete incontinence, neoanorectum incorrectly placed and poor development of sphincteric musculature. A further posterior sagittal anorectoplasty (according Peña) is only suitable in the incontinence cases with: i) neoanorectum seriously misplaced; ii) good development of sphincteric musculature; iii) absence of sacral anomalies. Postoperative CT is a valid mean for demonstrating all the above-mentioned conditions and for choosing the best surgical technique in each case.

[The radiologic picture of total colonic aganglionosis]. / Quadro radiologico dell'aganglia totale del colon.

The radiological findings pathognomonic of Hirschsprung's disease have been known for quite a long time. However, in addition to those diseases characterized by rectum or rectum-sigmoid aganglionosis (as in the classic form of Hirschsprung's disease), in pediatric pathology of surgical interest severe affections exist characterized by aganglionosis extending from the rectum to the entire colon, and exceptionally as far as the small bowel (ultra-long Hirschsprung's disease). The authors report on the results they obtained in radiological studies of 6 cases of total colonic aganglionosis by means of the current radiological procedures, i.e. plain abdominal films and barium enema. As for total colonic aganglionosis, no diagnostic radiological parameters have been assessed yet. The authors compare their results with those taken from international literature: microcolon with reflux into mega-ileum (2 out of 6 cases) appears to be the most suggestive X-ray finding for total colonic aganglionosis. Finally, the role is discussed of radiological studies in the diagnostic approach to total colonic aganglionosis. The authors conclude that, even though radiological investigations are indispensable, they are often not conclusive. Therefore, an accurate evaluation of the proximal extension of aganglionosis can be made only at surgery.

Leigh disease: value of CT in presymptomatic patients and variability of the lesions with time.

Three cases of Leigh disease (subacute necrotizing encephalomyelopathy) have been investigated recently in our institute by CT. Bilateral, low attenuation areas were observed in the basal ganglia in all cases. These areas corresponded to the typical necrosis areas seen pathologically in this disease. In our study there were further interesting CT appearances: the peripheral enhancement of low-density zones and the discovery of the lesions before the clear onset of clinical symptoms.

CT of anorectal malformation--a postoperative evaluation.

In spite of the progress in the field of surgical treatment of anorectal malformations, faecal incontinence is, in variable degrees, still an unpleasant and frequent postoperative sequela. Postoperative CT demonstrate the location of the pulled-through intestine, including whether it had been correctly placed through the levator ani and in the spincteric muscular complex. In our nine patients we discovered a correlation between the CT findings and the clinical picture. The cases of incontinence whether associated with sacral anomalies or not were characterized either by marked hypoplasia of musculature or by the pull-through having missed the sphincteric musculature. CT scans could be of use in planning further surgery.

Computed tomography (CT) in children with herpes simplex encephalitis.

Computed Tomography (CT) scans were obtained from nine infants with herpes simplex virus encephalitis (HSE). The early CT findings were generalized or localized edematous change and a mass effect was also seen in two cases. In the follow-up study two patients showed bilateral gyriform calcification, a rare occurrence in association with intracranial infection. The appearance of multicystic encephalomalacia was evident in one patient 3 months after the onset of disease. It is shown that the CT findings of neonates and young children with HSE are different from those of adults.