Summary:Fucosidosis is a rare autosomal recessive lysosomal disorder caused by ␣-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 prehematopoietic 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. Over the last few years, several storage diseases have been treated with hematopoietic stem cell transplantation (HSCT). [3][4][5][6] The enzymatic activity of white blood cells has been proven to rise to normal levels after HSCT. 7 Moreover, the differentiation of donor monocytes into tissue-specific cells such as Kupfer cells, Ito cells, pulmonary or peritoneal macrophages, lymphoid or histiocytic cells of the spleen and lymph nodes or dendritic cells of the skin causes the clearance of the accumulated substrate in many organs. 8 The correction of enzymatic levels has also been demonstrated in the CNS where new microglia and astroglia were shown to originate in the donor's macrophagic system. 9-13 Persistence of engraftment makes it possible to maintain the turnover of these cells and accounts for clinical improvement after HSCT. Intracellular enzyme transfer and uptake of donor-derived enzyme in plasma contribute to improving the advantageous effects of HSCT in these diseases. In the canine model, early HSCT proved to be useful in preventing clinical onset of fucosidosis and in maintaining normal enzymatic levels. 14 Clinical improvement has been reported in human fucosidosis after HSCT. 15,16 In this paper we report on the long-term outcome of fucosidosis in a patient treated with unrelated donor (UD) HSCT. Case reportWe report on the outcome of the second daughter of nonconsanguineous parents, for whom diagnosis followed clinical evidence of the disease in her sister.At the age of 18 months, the patient's older sister underwent cranial MRI which showed a diffuse hypomyelination invo...
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.
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.
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.
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.
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