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.

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.

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.

[Axial computed tomography in anorectal malformations: a pre- and postoperative indication?].

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.

[Importance of computerized tomography in the early diagnosis of Bourneville's tuberous sclerosis].

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 postoperative evaluation].

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).

[Computed tomography and anorectal malformations. Their preoperative evaluation].

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.

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.

[The radiologic picture of total colonic aganglionosis].

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.

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.

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.